Abstracts from the 21st Annual Meeting of Child Neurology in Kanto District, Tokyo, 19 March 1994

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Brain & Development 1995; 17:442-57

Proceedings

Abstracts from the 21st Annual Meeting of Child Neurology in Kanto District, Tokyo, 19 March 1994 Compiled by Masaya Segawa * Segawa NeurologicalClinicfor Children, 2-8 Surugadai Kanda, Chiyoda-ku, Tokyo 101,Japan Received 8 May 1995; accepted 27 June 1995

The meeting mentioned above was held at the Toshi Center, Tokyo, on 19 March 1994 and the abstracts of all papers (except one) presented were compiled here by Dr. Masaya Segawa, the organizer of the meeting.

Keywords: C h i l d neurology; 21st A n n u a l M e e t i n g o f Child N e u r o l o g y ; A b s t r a c t s

A-1 A case of congenital rubella syndrome with diffuse white matter lesion on Mill

Yuri Saito, MD, Hiroyuki Sato, MD, Motohiro Hasegawa, MD, Tomoharu Hayashi, MD, Masaru Tatsuno, MD (Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan) (Abstract was not submitted by the authors.) A-2 A case of X-linked agammaglobulinemia with T cell infiltration to multi-organs, deficiency of CD4 + T-iymphocytes and PML-like CT scan finding

Minami Ouchi, MD, Yukio lnomata, MD, Reiko Sasaki, MD, Jun Inatomi, MD, Katsuya Watanabe, MD, Takashi Igarashi, MD, Tsutomu Iwata, MD and Hiroshi Hayakawa, MD (Department of Pediatrics, Mejirodai Campus, Tokyo University Hospital, Tokyo, Japan) A 21-year-old male with X-linked agammaglobulinemia, T-cell infiltration to multi-organs and deficiency of CD4 + T-lymphocytes was admitted for treatment of right-sided Kirisawa's uveitis (acute retinal necrosis) in April, 1992. Progressive left-sided muscle weakness, seizures, mental deterioration, speech disturbance, incontinence and intention tremor developed 2 months later. Brain CT scan demonstrated low density lesions of the fronto-parietal white matter with the scalloped feature similar to the characteristic findings of progressive multifocal leukoencephalopathy (PML). There was no enhancement with contrast material. CSF analysis was normal. He was diagnosed clinically as PML. PCR analysis for herpes simplex, herpes zoster, cy-

* Corresponding author. Fax: (81) (3) 3294-0290. 0387-7604/95/$09.50 © 1995 Elsevier Science B.V. All rights reserved SSDI 0387-7604(95)00073-9

tomegalovirus, enterovirus and JC virus were negative. HIV-1 antigen was not detected by PCR. Repeated intravenous and intrathecal administration of high-dose gammaglobulin preparation seemed to be effective because neurological symptoms did not deteriorate further. However he lost the right side vision 8 months after admission. A family of herpes viruses are thought to be causative agents of Kirisawa's uveitis. On the other hand, JC virus causes PML. The relationship between uveoretinitis and neurological symptoms in this case is not clear. It is natural to consider that the cause of infections of retina and brain is of monoviral origin. However it might be possible that each lesion might be caused by a different pathogen under the unusual immunocompromised condition. R.A. Duncan et al. reported idiopathic CD4 + T-lymphocytopenia, in four patients with opportunistic infections but wihout evidence of HIV infection (New Engl J Med 1993; 328: 329). This report might be suggestive for the etiology of CD4 + T-lymphocyte deficiency in this patient.

Keywords: Agammaglobulinemia; CD4 +

T-lymphocytopenia; T-cell infiltration; Progressive multifocal leukoencephalopathy; CT scan

A-3 A case of leukodystrophy with many caf~-au-lait spots

Masahiro Itoh a, MD, Mihoko Matsuzaki b, MD, Noboru Fueki b, MD, Kazutaka Yamada b, MD, Kiyoko Kurata b, MD, Kuniyasu Takada c, MD, Yoshio Morimatsu c, MD (aDepartment of Pediatrics, Tokyo Metropolitan Bokutoh General Hospital, Tokyo; bDepartment of Pediatrics, Metropolitan Medical Center of the Severely Handicapped, Tokyo; CDepartment of Clinical Neuropathology, Tokyo Metropolitan Institute for Neurosciences, Fuchu, Tokyo, Japan)

M. Segawa/Brain &Development 1995; 17:442-57 We present a 24-year-old man with suspected leukodystrophy with many caf6-au-lait spots. He had been previously diagnosed with cerebral palsy and von Recklinghausen disease. During the pregnancy course, his mother had severe morning sickness and fetal movement ceased for about 1 week at 5 months gestation. He was born at 41 weeks gestation with a body weight of 3070 g. He had asphyxia for about 15 s after birth and sucked poorly. Mental retardation was suspected at the age of 6 months and was diagnosed as cerebral palsy, epilepsy and von Recklinghausen disease, depending on caf6-au-lait spots, choreo-athetotic movement, nystagmus and EEG abnormality. From the age of 6 months to 3 years, he often suffered from cyanotic attacks of about 30 s after crying. He was admitted at the age of 7 years to the Tokyo Metropolitan Medical Center for the Severely Handicapped. He had no symptoms of neurofibromatosis I or II except for many caf6-au-lait spots. Although he had developed choreo-athetotic movements of the upper limbs, he could grasp objects purposefully but it gradually became impossible. Optic nerve atrophy and slow and incomplete light reflexes were observed on both sides. Examinations on serum, urine and cerebrospinal fluid including analysis of amino acids, organic acids, long-chained fatty acids, lysosomal enzymes and chromosomal study were normal except increase in serum NH 3. No point mutation in proteolipid protein (PLP) was detected. NCV and EMG were normal. EEG showed frequent central spikes bilaterally in sleep stages. Waves I and II at BAEP were well delineated but subsequent components were entirely absent. No VEP was recorded with flash stimuli. SSEP by median nerve stimulation showed normal Erb's and cervical 6 potential but no potentials were observed in the contralateral parietal area. Brain CT and MRI showed no destructive lesions or calcification, but Tl-weighted images revealed high signal intensity in the brain stem, cerebellum and basal ganglia, and T2weighted images revealed high signal intensity diffusely in the cerebral white matter. Hypoxic or anoxic encephalopathy during pregnancy was suggested from the disappearance of fetal movements, but it is difficult to rule out the existence of prenatal destructive lesions of the CNS because of the severe white matter lesion. In von Recklinghausen disease, areas of high signal intensity of brain on T2-weighted images are sometimes present in the globus pallidus, brain stem and cerebellar white matter, which are considered as areas of dysplasia, heterotopia, hamartoma, glioma and neurinoma. However, the clinical course, neurophysiological findings and high signal intensity in diffuse cerebral white matter on T2-weighted images observed in our patient are not compatible with von Recklinghausen disease and rather suggested Pelizaeus-Merzbacher disease (PMD) though the abnormality in the PLP gene was not found. Male cases of PMD without an abnormal PLP gene and even female cases have been reported. So the criteria for PMD need to be revised. Association of caf6-aulait spots or neurofibromatosis in this case may have pathognomonic importance.

Keywords: Leukodystrophy; Caf6-au-lait spots; Von Recklinghausen disease; Cerebral palsy; Pelizaeus-Merzbacher disease; Proteolipid protein

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A-4 Clinical neurophysiological studies in a female suspected as having cerebral dysmyelination

Atsuo Nezu, MD, Saori Uehara, MD, Hitoshi Osaka, MD, Takuya Kobayashi, MD, Mitsuyo Haraguchi, MD, Seiji Kimura, MD (Department of Pediatrics, Yokohama City University, School of Medicine, Yokohama, Kanagawa, Japan) A 13-year-old female suspected of suffering from cerebral dysmyelination was studied neurophysiologically to confirm having the same characteristics as those of Pelizaeus-Merzbacher disease (PMD). The parents were second cousins. She showed congenital nystagmus and spastic gait disturbance from the age of 10 years. The MRI findings were consistent with those in PMD. Spontaneous nystagmus was recognized at a rate of 8 Hz in EOG. BAEP showed prolonged interpeak latencies between III and V (4.45 ms). VEP showed prolonged latencies of N75 (93 ms). In SEP of the CNS, the latencies of N18 were prolonged to 28 ms and the earlier peaks were absent by temporal dispersion. Both R1 and R2 of the blink reflex (BR) were elicited with prolonged latencies. In MEPs of the thenar muscles by magnetic stimulation, normal MEPs were elicited by stimulation on the 5th cervical portion. On the other hand, no MEPs were recognized by stimulation on the cortical vertex even in the facilitated condition by voluntary contraction of the target muscles. These neurophysiological data of the case indicated extensive conduction aberration of the CNS which was less severe than that of our four patients with PMD. The case was suspected as having the same neurophysiological characteristics as those of the initial stage of PMD.

Keywords: Pelizaeus-Merzbacher disease; Dysmyelination A-5 A case of progressive calcification in white matter associated with hypergammaglobulinemia

Tomoko Abe, MD, Hajime Katayama, MD, Jakuhi Sei, MD, Yoichi Sakakihara, MD, Shigehiko Kamoshita, MD (Department of Pediatrics, University of Tokyo, Tokyo, Japan) She was the first baby to a healthy parent and body weight was 2030 g at full term. There was no severe asphyxia and all the titers of TORCH were normal. At the age of 14 days, she had an episode of respiratory arrest and convulsions with fever which needed mechanical ventilation and blood transfusion. After she recovered from this episode, serum level of GOT and GPT began to elevate gradually. At the age of 4-5 months, she had another convulsive status with fever. GPT further elevated up to 600 I U / m l and liver biopsy showed a non-specific inflammatory pattern. Her first brain CT at 6 months showed increased signals in the white matter of the cerebral cortex. Her motor and mental developments were slow. Then she developed gradually up to 3 years and became able to stand with support and say a few words. During these years, she had no convulsive attacks and serum level of her transaminase came down into the normal range. Her brain CT at age 3 showed diffuse calcification in the frontotemporal area bilaterally. From age 3 to 6, she had several episodes of convulsive status which resulted in severe psychomotor deterioration. Her serum level of gammaglobulin also began to elevate and her tonsils became hypertrophic with persistent positive CRP. Brain CT showed progressive

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expansion of the area of calcification to the occipital white matter, cerebellum and into spinal cord. She became bed-ridden with exaggeration of rigospasticity and postural instability. After tonsillectomy at age 6 years, these recurrent episodes of convulsion with fever subsided but her serum IgG level did not fall to lower than 4 g / d l . At age 8, the persistent hypergammaglobulinemia caused her to develop clubbed fingers due to the hyperviscostic symptoms, so we tried plasmapheresis and steroid pulse therapy to suppress the immunoreaction. But her neurological functions are slowly worsening, with extrapyramidal signs added. Some types of abnormal autoimmune responses might cause these hyperreactive inflammatory processes which resulted in severe calcification of white matter in the central nervous system and hypergammaglobulinemia.

A-6 A case of Pelizeus-Merzbacher disease with pendular nystagmus and developmental delay and diffuse dysmyelination on Mill

Noboru Kuyama, MD, Miyako Oguni, MD, Yasushi Ito, MD, Makoto Yoshida, MD, Shigeru Nagaki, MD, Makiko Osawa, MD, Yukio Fukuyama, MD (Department of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan) Pelizeus-Merzbacher disease (PMD) was previously diagnosed on the basis of both clinical symptoms and pathological findings of myelination deficiency. Recently, however, due to advances in neuroimaging, myelination deficiency can be more easily diagnosed and the number of suspected PMD cases has thus increased. We experienced a case, diagnosed as PMD, with typical clinical symptoms and characteristic BAEP and MRI findings. The case was an 8 month old male with an uneventful birth history and negative family history. His first symptom was horizontal pendular nystagmus at rest and startle myoclonus in the drowsy state at 3 months old. He gained the ability to smile between 2 and 3 months of age, but head control was not achieved until 6 months and he is not yet able to roll. On admission, no dysmorphic features were observed, eye pursuit was positive and facial expression was vivid. Reflexes were normal, but equinovarus posture of the bilateral ankles and mild opisthotonic posture when crying were noted, possibly suggesting a hypertonic tendency. Bilaterally symmetrical nystagmus was observed, recorded on ENG as an approximately 1-1.5 cycle relatively slow and fine horizontal pendular type. Routine blood examination, as well as both serum and CSF lactate and pyruvate, revealed normal values. The IgG index was within normal range, neither an oligoclonal band nor myelin basic protein (MBP) was detected in CSF. VMA, H V A and metabolic screening of urine also yielded normal values. Very long chain fatty acids and lysosomal enzymes showed normal patterns. Auditory evoked potential showed a normal I, II wave but disappearance of the potentials after wave III on both sides. On flash-visual evoked potential, waves N75 and P100 were observed on the left, but no obvious wave separation was recognized on the right. A diffuse T1 low signal and a T2 high signal pattern were observed in the brainstem, cerebellar pedunculi and capsula interna on MRI, and were thought to correspond to diffuse delayed myelination of white matter.

Myelination was insufficient in the dentate nuclei of the cerebellum, anterior portion of the capsula interna, dorsal nuclei of the pons, posterior horns of the lateral ventricle and in the corpus callosum. Myelination of the spinal cord was normal, the marked delay in myelination above the brainstem being characteristic of our case. Though no abnormal findings were observed in examining the phospholipid protein (PLP) exon, PMD was diagnosed on the basis of clinical and MRI findings. Slow and pendular nystagmus was thought to be characteristic of PMD, as a leukodystrophy, according to previous studies, but its origin remains to be elucidated. Nystagmus was first recognized at about 3 months of age, often accompanied by head tremor in the typical classical type of PMD. We consider the possible relationship between nystagmus and head control, in addition to the delayed maturation of eye movement control, due to diffuse dysmyelination of the brainstem and cerebellum. PLP gene analysis is not sufficiently sensitive to detect PMD, because only 1/3 of total examined cases have been reported to show an abnormal pattern. Thus, characteristic findings of delayed CNS myelination on MRI are thought to be the most reliable means of diagnosing PMD. We will continue to follow this case with MRI.

Keywords: Pelizeus-Merzbecher disease; Pendular nystagmus; Delayed CNS myelination; Phospholipid protein A-7 A case of adrenoleukodystrophy presenting a clinical course like malignant hyperthermia

Masako Tobita, MD, Sari Higuchi, MD, Noriko Hamade, MD, Haruko Naito, MD, Kenji Hihei, MD (Department of Neurology, National ChiMren's Hospital, Tokyo, Japan) A 14-year-old boy suffering from adrenoleukodystrophy (ALD) with a clinical sign similar to malignant hyperthermia was reported. Diagnosis of ALD was made by the elevation of very long fatty acid in the serum 2 years ago. The symptoms were progressive and he had recurrent attacks of muscle hypertonicity and profuse sweating. He was admitted to our hospital for control of these attacks. The fifth day after admission, he was noted to have a opisthotonic posture, profuse sweating and tachycardia with a pale face and respiratory distress. He had metabolic acidosis and marked elevation of serum creatine kinase and myoglobinemia. These laboratory findings revealed severe rhabdomyolysis with disseminated intravascular coagulation and multiple organ failure. Dantrolene, a muscular relaxant for malignant hyperthermia, was effective for these symptoms and laboratory findings were improved. Based on many experimental studies, malignant hyperthermia has been postulated as a result of an enhanced sensitivity (low threshold) of the Ca2+-induced Ca 2÷ release process due to excessive free fatty acid. In this case, it is suggested that the abnormal very long chain fatty acid accumulated in this disease reduced the Ca2+-induced CA 2÷ release threshold.

Keywords: Adrenoleukodystrophy; Malignant hyperthermia; Ca2+-induced Ca 2+ release; Very long chain fatty acid

M. Segawa/ Brain & Development 1995;17."442-57 A-8 Dipole tracing analysis in a patient with infantile neuroaxonal dystrophy

Naoyuki Tanuma, MD, Takeshi Hasegawa, MD, Jun Kohyama, MD, Masayuki Shimohira, MD, Yoshihide Iwakawa, MD (Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan) We report a 2-year-old male patient with infantile neuroaxonal dystrophy (INAD). He had slowly progressive psychomotor regression, left convergent strabismus, pendular nystagmus, bilateral optic atrophy, marked generalized hypotonia and bilateral pyramidal tract signs. T2-weighted MR imaging showed diffuse hyperintensity of the cerebellar cortex of both sides. Electron microscopic examination of biopsled skin specimen revealed tubular structures in the myelihated axons. E E G showed high voltage spindle-like fast rhythms that are known as the characteristic E E G pattern in INAD. These fast rhythms consisted of two different kinds of frequencies: 22 c / s temporo-occipitally and 14 c / s frontocentrally. By analysis with the dipole tracing (DT) method these fast rhythms were revealed to have low dipolarity and multiple sites in its origin. This is different from normal sleep spindles which show a single equivalent current dipole with high dipolarity in the thalamus. This result suggests that the fast rhythms may originate from multiple electrical sources in the brain.

Keywords: Infantile neuroaxonal dystrophy (INAD); Dipole tracing analysis; Fast rhythm; Equivalent current dipole

A-9 Sisters with a juvenile type of hereditary dentatorubro-pallidoluysian atrophy (DRPLA) diagnosed by DNA analysis

Sumimasa Yamashita, MD, Hiroko Iwamoto, MD, Yuri Shimasaki, MD, Koichi Higashi, MD, Shota Miyake, MD, Michiko Yamada, MD (Division of Child Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan) This paper described two sisters, a 16 year old and a 12 year old, who showed similar clinical courses. They showed mental retardation since early childhood, following ataxia. They suffered from astatic and tonic seizures from early school age, which gradually evolved to intractable epilepsies, and deteriorated both physically and mentally, with a progressive spasticity. They were revealed to be photosensitive, since convulsions were induced by the flickering of light. Myoclonic seizures and choreo-athetotic movements were also observed. They became bedridden by the latter part of elementary school age. Laboratory examinations were not contributory for suggesting metabolic disorders. Seizure discharges induced by photic stimulation were 3-4 Hz diffuse spike and wave short bursts during wakefulness and sleep. MRI of the elder sister at the age of 16 revealed marked diffuse brain atrophy. An analysis of the PCR-amplified products of D N A using peripheral white blood cells showed abnormally enlarged fragments on the short arm of the 12th chromosome. The younger sister died at the age of 12 years. The neuropathological study revealed degeneration of the neurons involved in the dentatorubral and the pailidoluysian pathways. Of them, gliosis and neuronal cell loss in the outer segment of globus pallidus and neuronal cell loss and grumose degeneration in the dentate nucleus were marked. The

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neuropathological findings of the present cases were compatible with those of a juvenile type of DRPLA. These cases suggest the possibility of premortem diagnosis of D R P L A by clinical and molecular genetic analyses.

Keywords: Dentatorubro-pallidoluysian atrophy; DNA analysis; Progressive myoclonic epilepsy; Photosensitivity A-10 Three types of multicystic encephalomalacia and the analyses of its risk factors

Seiichi Sugama a, MD, Kaoru Kusano a, MD, Akira Akatsuka a, MD, Yukikatsu Ochiai ~, MD, Shigenobu Tsuzura ~, MD, Kihei Maekawa b, MD (aDepartment of Pediatrics, Tokyo Metropolitan Kita Medical Rehabilitation Center for the Handicapped, Tokyo; bDepartment of Pediatrics, Tokyo Jikei University School of Medicine, Tokyo, Japan) Multicystic encephalomalacia (MCE) caused by perinatal asphyxia is one of the severest brain damages that occur in the perinatal period. MCE is usually regarded as one entity despite the great variation of severity and extent of the lesion. We classified MCE into three groups neuropathologically, according to the distribution of lesions: type I: both cerebral hemispheres are occupied by huge multiple cavities, whereas thalamus, brainstem and cerebellum are less affected despite destruction of cerebrum; type II: multiple cavities in the white matter of both cerebral hemispheres, with relatively well preserved basal ganglia and brainstem; type III: cerebral hemispheres are replaced by multiple cavities and furthermore, the basal ganglia and thalamus are involved symmetrically. Eighteen patients with MCE considered to be caused by perinatal asphyxia were classified according to these criteria. The gestational and birth histories of these patients were evaluated and assessed among the three types. The risk factors were as follows. Among prenatal factors, the incidence of toxemia, hyperemesis, and weak fetal movements were low in all groups, but that of threatened abortion was relatively high in both type I (43%) and type III (71%) as compared with type II (0%). During parturition, fetal distress was relatively high in type I and type III. Among postnatal factors, the frequency of asphyxia and poor sucking were high in type I (86% and 100% respectively) and type III (86% and 100% respectively), whereas these factors were low in type II (25% and 25% respectively). Other characteristic findings in their history of birth were that two patients with type III had complications with placental abruption. The pathogenesis of these brain injuries is discussed by evaluating the findings of CT scan and risk factors and referring to experimental studies on brain damages by hypoxic-ischemic brain insults.

Keywords: Multicystic encephalomalcia; Hypoxic-ischemic encephalopathy; Risk factors; CT scan A-11 A case of phacomatosis pigmentovascularis with SturgeWeber syndrome and Klippel-Weber syndrome

Yasuhiro Arai a, MD, Shinichi Niijima a, MD, Masahiro Saito ~, MD, Keiko Kuremoto a, MD, Keiichi Takahashi a, MD, Keijiro Yabuta ~, MD, Kiyoshi Sato b, MD, Tomoyuki

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Nakazawa c, MD, Hiroshi Takahashi c, MD, Kenichiro Kaneko c, MD, Chikaya Otsuka c, MD (aDepartment of Pediatrics, Juntendo University School of Medicine, Tokyo; bDepartment of Neurosurgery and CDepartment of Pediatrics, Juntendo Urayasu Hospital, Urayasu, Chiba, Japan) Phacomatosis pigmentovascularis (PPV) was described first as a syndrome by Ota in 1947. Patients with this syndrome show cutaneous hemangiomas associated with melanotic or epidermal nevi. The hemangiomas consist of partial nevus flammeus, while the melanocytic lesions may be persistent aberrant mongolian spots. The disorders are categorized into four types and each group is subgrouped further by presence (type b) or absence (type a) of systemic manifestations. We presented a case of PPV, type 2b, who was a 1-year-old girl with Sturge-Weber syndrome and KlippelWeber syndrome. She showed hemangioma and temporal lobe calcification on the right, hypertrophy of the upper extremity, hemiconvulsion on the left and mental retardation. Besides this she had glaucoma in the right eye. This is the twelfth case with the three above-mentioned neurophacomatoses reported in Japan.

Keywords: Phacomatosis pigmentovascularis (PPV); SturgeWeber syndrome; Klippel-Weber syndrome A-12 A case of pontine infarction in repeated Kawasaki disease

Masaaki Kobayashi, MD, Masatsune Date, MD, Yasuko Fujita, MD, Noriaki Funamoto, MD, Toshiaki Abe, MD, Kei Hachimori, MD (Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan) Kawasaki disease (KD) is a multisystem disorder with vasculitis of unknown etiology. Although it is clear that aseptic meningitis occurs frequently, association of other neurological manifestations are rare in KD. We reported one case of KD, combined with brain stem infarction during the clinical course of repeated KD. A 4-year-old boy was admitted to his local hospital with consciousness disturbance and quadriplegia occurred abruptly. He had had a history of four episodes of KD, complicated by aseptic meningitis or arthritis and coronary and axillary aneurysms were observed from the second attack. On admission, he was drowsy and irritable, and muscle hypertonus was observed on the left. Absence of corneal reflexes and positive Babinski reflexes were detected. Voluntary movements of the face, tongue, and palate were partially impaired. Laboratory tests revealed no abnormalities except for slightly elevated values of BUN and serum amylase on admission. CSF examinations showed no abnormalities. A contrast cranial CT scan on the next day demonstrated an irregular low density lesion in the pons, indicating infarction. Unfortunately, cerebral angiography was not performed due to his poor condition. He was treated with anticoagulant, and slowly improved over the next 8 days. After 1 month, he had the fifth recurrence of KD with thrombosis of the right axillary artery. He was transferred to our hospital with the sixth recurrence of KD at age 7 years. He showed left hemiparesis, and a cranial CT scan revealed a sharply demarcated lesion in the pons. MRI study demonstrated a lesion of the upper part of

the right pons, indicating an old infarction. Right carotid angiogram showed a small aneurysm of the branch of the angular artery. These findings revealed that this patient had widespread vascular changes of KD, which probably caused the pontine infarction. However, a basilar angiogram, which is useful for the diagnosis of pontine lesions, could not be performed because of his serious clinical condition. Patients with KD showing widespread vascular changes, neurological signs and symptoms should be carefully examined, and other studies including neuroimaging should be performed.

Keywords: Kawasaki disease; Pontine infarction; Vascular change; Neurological complication A-13 Suspected sagittal sinus thrombosis in a patient receiving continuous ambulatory peritoneal dialysis

Jiro Arita, MD, Tomohiro Gen, MD, Yoichiro Nakae, MD, Hiroshi Mochizuki, MD, Hiroshi Matsushima, MD, Nobuo Usui, MD, Kihei Maekawa, MD (Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan) The patient was a 14-year-old boy with chronic renal failure. He had been treated by continuous ambulatory peritoneal dialysis for 2 years. He developed the status of convulsions abruptly and had consciousness disturbance with spastic paralysis. Brain CT revealed low density areas on the bilateral parietal lobes. Therefore, we suspected him to have sagittal sinus thrombosis. He recovered rapidly on glycerol and heparin therapy. In MR angiography, there was no blood flow of the sagittal sinus in an early stage, though blood flow was detected in the later stage. Thus we speculated that the thrombosis had dissolved in the course of the episode. There was no evidence suggesting infection, hypercoagulative state, erythrocytosis or thrombocythemia. Although he had been given erythropoietin, the relationship between erythropoietin and this episode of sagittal sinus thrombosis was uncertain.

Keywords: Sagittal sinus thrombosis; Continuous ambulatory peritoneal dialysis; Erythropoietin; MR angiography A-14 Moyamoya disease with onset of neonatal convulsion and renal hypertension: a case report

Masaki Shimizu a, MD, Shin-ichiro Hamano a, MD, Takahiro Nara", MD, Kihei Maekawa b, MD (aDivision of Neurology, Saitama Children's Medical Center, lwatsuki; bDepartment of Pediatrics, Jikei University School of Medicine, Tokyo, Japan) A 2-year-old boy with moyamoya disease that started with neonatal convulsion was presented. Reports of moyamoya disease in infancy are rare. Moyamoya disease was suspected from clinical, neuroradiological, and EEG findings. Cerebral angiography confirmed this diagnosis as stenosis of both carotid siphons and a marked collateral circulation network in perforating arteries. An increase in immunoglobulin to cytomegalovirus was found in his serum, and cytomegalovirus DNA was detected by the PCR method in his blood and cerebrospinal fluid, which suggested a congenital or perinatal infection by cytomegalovirus. This may imply that some viral

M. Segawa/Brain & Development 1995; 17:442-57 infections, such as CMV, are involved in the pathogenesis of moyamoya disease. It was also noted that our case was complicated by renal hypertension, which resolved in 4 months. The incidence of renal hypertension by stenosis in the renal artery is about 2%. The renal hypertension is usually permanent. This is the first report of transient renal hypertension associated with moyamoya disease.

Keywords: Moyamoya disease; Cytomegaloviral infection; Renal hypertension

A-15 Spontaneous regression of cerebral arteriovenous malformation in a child case

Miho Igari, MD, Kenzo Hamano, MD, Nobuko Moriyama, MD, Takashi Fukushima, MD, Hitoshi Takita, MD (Department of Pediatrics, University of Tsukuba, Tsukuba, lbaraki, Japan) Spontaneous regression of cerebral arteriovenous malformation (AVM) usually occurs in adults. We experienced an 8-year-old girl with AVM which had almost regressed spontaneously at the age of 7 years. She was referred to our hospital because of a left facial port-wine stain and right hemiparesis at the age of 23 months. Radiologically, two AVMs and diffuse venous abnormalities were observed in the left hemisphere. Two AVMs were seen in the anterior and posterior parts of the basal ganglia. One was fed by a perforating artery from the left MCA and drained into the superior petrosal sinus, and the other was fed by a perforating artery from the basilar artery and drained through the vein of Rosenthal into an extremely dilated vein of Galen. Thereafter, the patient had been followed with repeated periodic CT and MRI. At the age of 7 years the disappearance of AVMs was suggested in CT and MRI. At the age of 8 years, regression of both of them and dilatation of the vein of Galen was confirmed by angiography, enhanced CT and MRI. EEG showed focal spikes at the left parieto-temporal area. Brain single photon emission computed tomography using lz3I-IMP showed a higher perfusion on the left side compared with the right. Several mechanisms for the regression of AVM have been considered: acute or gradual thrombosis, intracranial hemorrhage, activation of coagulation and so on. In this case the stagnant flow, microembolism or hemodynamic changes due to the angiography itself is thought to be the cause of the regression.

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and tachycardia. Laboratory examination including cerebrospinal fluid analysis and auditory brain stem response showed no abnormality. Although a brain computed tomographic scan showed no abnormality, brain MRI revealed a well demarcated and high signal lesion on a T2-weighted image in the tegmentum, from the lower pons to the medulla oblongata. The lesion shown on the MRI remained unchanged for 2 months, however, he recovered well and he was discharged from the hospital 2 months after admission with no sequelae. Two months after discharge, the MRI lesion gradually diminished in size and intensity, however, it was still present 1 year after the episode. Though the serum antibodies to various viruses were not increased significantly, we think that the lesion was postinfectious encephalitis localized only in the tegmentum of the pons and medulla oblongata, because the lesion gradually resolved spontaneously.

Keywords: Ataxic respiration; Localized encephalitis; Pontine encephalitis A-17 Progressive brainstem lesions in Kearns-Sayre syndrome

Eiji Nakagawa a, MD, Satoru Hirano a, MD, Hideo YamanouchU, MD, Yu-ichi Goto a, MD, Sachio Takashima b, MD, Ikuya Nonaka a, MD (aDivision of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo; bDepartment of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan) In an l 1-year-old boy with Kearns-Sayre syndrome, proton density and T2-weighted sequences obtained on cranial MRI revealed bilateral high signal intensity areas in the tegmentum of the midbrain, pons, reticular formation of the brainstem, medial longitudinal fasciculus in the midbr~in and pons, inferior colliculus, globus pallidus, thalamus, and white matter of the cerebrum and cerebellum. The size and intensity of these lesions increased for 2 years, in parallel with neurophysiological findings of the progression including a reduced auditory brainstem response. These findings suggest that brainstem lesions may play a role in the neurogenic origin of the external ophthalmoplegia in addition to the primary defect of the extraocular muscle involvement in KSS.

Keywords: Kearns-Sayre syndrome; MRI; External ophthalmoplegia

Keywords: Arteriovenous malformation A-16 A case of pontine encephalitis representing ataxic respiration

A-18 Type lI Arnold-Chiari malformation: factors affecting anoxic attacks

Takuya Kobayashi, MD, Seiji Kimura, MD, Hitoshi Osaka, MD, Saori Uehara, MD (Department of Pediatrics, Urafune Hospital of Yokohama City University, Yokohama, Kanagawa, Japan)

Katsuaki Hirai a'b, MD, Hisamichi Tagami a, MD, Yoshitake Sato ~, MD, Tohru Seki b, MD (aGeneral Ohta Hospital, Ohta, Gunma; bDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

A 3-year-old boy was admitted to our hospital because of drowsiness which occurred abruptly. One week before admission, he had had an upper respiratory tract infection. At admission, he showed an ataxic respiration, and drowsiness due to CO 2 narcosis. His level of consciousness improved with the assistance of ventilation, however, his ataxic respiration persisted for about 1 month. He also had hypertension

Type II Arnold-Chiari malformation (ACM) is frequently associated with anoxic attacks. In the following two case studies of ACM, we note the change in frequency and severity of the anoxic attacks. Case 1: A boy weighing 3.0 kg, born at the end of a normal, 37-week pregnancy, had a midlumbar meningomyelocele which was surgically closed at 6 days of age. A ventriculoperi-

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toneal (V-P) shunt was placed at 8 days of age, and posterior fossa decompression was performed at 3 months of age. An MRI at 1 year of age showed herniation of the cerebellum and syringomyelia. A syringosubarachnoid (S-S) shunt operation was performed at 13 months of age. His first afebrile generalized clonic convulsion occurred at 1 month of age and his first anoxic attack was noticed 3 days later. The attacks continued with a frequency of 5-10 per day, both awake and asleep. The attacks increased their frequency markedly immediately after each operation. Infection and stress aggravated the attacks. The frequency of the attacks decreased gradually from 10 months of age until 3 years of age. From 2 years of age, the attacks became milder. The development of his mental and motor functions was about 1 year behind those of normal children. Direct laryngoscopy revealed no abnormalities. Auditory brainstem responses at the age of 18 months and 25 months showed no abnormalities. Case 2: A girl weighing 2.6 kg, born at the end of a normal, 40-week pregnancy, had a midlumbar meningomyelocele which was surgically closed at 3 days of age. Her first anoxic attack was noticed at 2 days of age. A V-P shunt was placed at 33 days of age. Anoxic attacks with bradycardia occurred 5-8 times per day. Theophylline and phenobarbital were not effective in controlling the attacks. Dyspnea and heart failure developed at 3 months of age. Intubation and mechanical ventilation were necessary to treat the severe dyspnea until age 17 months. The frequency of attacks decreased gradually from 3 to 5 years of age. Steroids were administered at 1 year of age to assist extubation, and were found effective for decreasing the frequency of anoxic attacks. A decrease in dose of steroid led to an increase in the frequency of attacks. The attacks were often associated with crying or eating. The following factors seem to modulate anoxic attacks: (1) aging; (2) steroids; (3) operations; (4) infections; (5) stress and (6) reproofs. The first two are beneficial factors; that is, with age the frequency of attacks decreased markedly, probably due to the maturation of the brainstem, and steroids were also effective for reducing their frequency. Factors 3-6 aggravate the attack. Therefore intensive care during infancy is important in preventing death from severe anoxic attacks. Steroids are the only drug effective for the attacks. The V-P shunt operation and the posterior fossa decompression were not effective.

totally excised by surgery. After surgery the neurological deficit improved gradually. This case is unusual because of the tumor's lumbar location and cauda equina origin, and because of the relatively young age of the patient.

Keywords: Arnold-Chiari malformation; Anoxic attacks;

Kazuo Ejiri a, MD, Yasufumi Utsumi a, MD, Osami Okubo b, MD, Kensuke Harada b, MD (aDepartment of Pediatrics, Tokyo Metropolitan Hiroo General Hospital, Tokyo; bDepartment of Pediatrics, Nihon University School of Medicine, Tokyo, Japan)

Steroids A-19 A 5-year-old female case with extramedullary spinal meningioma

Takafumi Honda, MB, Norihiko Ishiwada, MB, Katsunori Fujii, MB, Katsuo Sugita, MD, Masazumi Murakami, MD (Departments of Pediatrics and Orthopedics, Faculty of Medicine, University of Chiba, Chiba, Japan) A 5-year-old female case of extramedurally spinal meningioma was presented. She showed slowly progressive muscle weakness of the lower extremities at 3 years of age. Spinal magnetic resonance imaging (MRI) demonstrated an extramedullary mass extending from T h l 2 to L5 which was

Keywords: Extramedullary meningioma; Spinal tumor A-20 A case of Goldenhar syndrome

Yukio Noguchi a, MD, Osami Okubo ~, MD, Yukihiko Fujita a, MD, Tatsuo Fuchigami a, MD, Kazuo Hiyoshi a, MD, Hiroshi Kanamaru ~, MD, Miyako Endho a, MD, Kensuke Harada ~, MD, Yoshio Yamazaki b, MD, Shigeru Mori b, MD, Yoshio Kukimoto c, MD (aDivision of Pediatrics, bDivision of Ophthalmology and CDivision of Otolaryngology, Nihon University School of Medicine, Tokyo, Japan) Goldenhar syndrome (GS), which has hemifacial microsomia and many other anomalies, was first reported by Von Arlt in 1845. At present, the triad of this syndrome are optic dermoid/lipodermoid, malformed ears and vertebral defect. In this report, a case of GS having optic nerve hypoplasia and hemimicrocephaly in addition to the triad is described. The patient was a 2 month old girl. She was born by vacuum vaginal delivery and asphyxia (Apgar score 3 points) at 39 weeks gestation. At birth, she had facial anomalies which consisted of left hemifacial microsomia, left facial nerve palsy, cleft palate, micrognathia, and ear and optic anomalies (left microtia with hearing deficit, left epibulbar dermoid cyst and optic nerve hypoplasia). A roentgenogram showed a vertebral defect between cervical and thoracic vertebrae. In addition, a CT scan revealed left microcephaly. At 17 months she was able to sit, at 20 months is able to stand but still cannot utter any distinguishable words. Encephalocele, hydrocephaly, Arnold-Chiari malformation and cerebral dermoid have been reported as CNS anomalies of GS, while the hemimicrocephaly and optic nerve hypoplasia observed in this case have not been reported.

Keywords: Goldenhar syndrome; Optic dermoid/lipodermoid; Vertebral defect; Hemimicrocephaly; Optic nerve hypoplasia A-21 Successive MR[ findings of tuberculous meningitis in an adolescent

The case is a 13-year-old boy. He was born in the Philippines in 1979. BCG vaccination was not performed. After returning to Japan at age 2, the tuberculin reaction was strongly positive. At age 6 he was diagnosed as having old tuberculosis on chest radiograms. Fever at the level of 39°C had persisted with vomiting, nausea, headache, stiff neck from 7 days before he was seen at this hospital. Chest radiograms revealed loci of old tuberculosis in the right lower lung field. Fluorescent staining revealed three acid fast bacteria, so diagnosis of tuberculous meningitis was made. Eight colonies of tubercle bacilli were detected at the 5th

M. Segawa/ Brain & Development1995;17:442-57 week of culture of acid fast bacteria isolated from the cerebrospinal fluid. On the drug resistance test, no resistance to SM, PAS, KM, RFP, CPM, CS was found, but incomplete resistance to INH, TH, EB was noted. Brain CT at the onset of the disease showed no evidence of abnormal findings. With the appearance of sensory disturbance and spreading of paralysis of the left lower leg 4 months later, the patient found it difficult to walk. Spinal MRI studies were performed, and on the Tl-weighted images of the medio-sagittal section revealed many tuberculomas of nodular appearance scattered over the entire circle of the subarachnoid cavity around the spinal cord, particularly in the region of the l s t - 2 n d lumbar vertebrae. On the brain MRI studies, T1weighted images at the axial section and medio-sagittal section demonstrated many tuberculomas in the subarachnoid cavity, extending from the suprasellar cistern to the interpeduncular cistern as if filling the center of the basal cistern. Furthermore, nodular tuberculomas were found in the cisterna ambiens on both sides, right inferior horn and subarachnoid cavity around the cerebellum as well. The spinal cord suppression by these tuberculomas was considered the cause of sensory disturbance and paralysis in the right lower leg. On the basis of the results of spinal MRI, extirpation of spinal tuberculomas was performed on the affected child. In this case, brain and spinal MRIs made it possible to evaluate the successive changes in the progressive tuberculomas in the thoraco-lumbar vertebral region and in the brain. MRI is very useful in the diagnosis and treatment of tuberculous meningitis.

Keywords: Tuberculous meningitis; MRI; Tubercuioma A-22 Congenital CSF fistulae by inner ear anomalies associated with recurrent meningitis

Yasuhiko Kawakamia, MD, KiyoshiHashimoto a, MD, Sanae Shimada b, MD, Tokunari Rai b, MD (aDepartment of Pediatrics and bDepartment of Otorhmolaryngology, Nippon Medical School, Tama Nagayama Hospital, Tama, Tokyo, Japan) There are three major conditions predisposing to recurrent bacterial meningitis in patients with one or more of the following complications: congenital cerebrospinal fluid (CSF) fistulae, traumatic or surgical CSF fistulae, or immunodeficiency. We report a case of congenital CSF fistulae (otorrhea) due to bilateral inner ear anomalies associated with recurrent meningitis. The patient is a 14-year-old boy with congenital bilateral sensory nerve deafness. On the first admission, from the morning he suffered a high fever, severe headache, frequent vomiting, and consciousness disturbance. We failed to identify pathogenic bacteria in the CSF or the blood. He was diagnosed as having bacterial meningitis and was treated with cefotaxime, ampicillin, and dexamethasone, and followed a satisfactory course. He had no sequelae and was discharged. Two weeks after the discharge, however, he suffered a second bout of meningitis. He was treated again, and cultures of CSF and blood were negative. We then started to investigate the etiologies of recurrent meningitis. His immunological functions were normal, and vertebral MRI (mag-

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netic resonance imaging) showed no abnormal findings. However, high-resolution temporal bone computed tomography revealed bilateral short and malformed cochleas which were diagnostic of Mondini dysplasia. 131In-DTPA cisternoscintigraphy showed a leakage of CSF into the left nasal canal, which we supposed to come from the internal auditory canal through the auditory tube into the nasal cavity. Eight months after his first admission, an operation was performed on his left middle ear space. The tympanic membrane, the malleus, and the incus were removed and CSF was found to have leaked fluctuatedly onto the footplate of the stapes through the oval window. The fistulae were packed with several pieces of muscle, fascia, and gelatine sponge while the stapes was not removed.

Keywords: Recurrent bacterial meningitis; Congenital cerebrospinal fluid fistulae; Inner ear anomalies; Mondini dysplasia A-23 An infant with enterovirus 71 meningitis accompanied by syndrome of inappropriate secretion of antidiuretic hormone

Tomoyuki Nakazawa, MD, Shigeaki Inoue, MD, Hiroshi Takahashi, MD, Ken-ichiro Kaneko, MD, Chikaya Ohtsuka, MD (Department of Pediatrics, Juntendo University Urayasu Hospital, Urayasu, Chiba, Japan) We report here a 2-month-old boy with enterovirus 71 (EV71) meningitis seen this winter. During 2 days before admission, he had lost his appetite. On the day of admission, generalized tonic-clonic convulsion occurred suddenly which lasted 15 min. On arrival at our department, the convulsion had already ceased and he cried with irritation. Any vesicle or rash was not found on the skin, and he had no sign of dehydration. Cerebrospinal fluid investigations revealed pleocytosis without any bacteria. The biochemical investigations revealed severe hyponatremia (113 mEq/1). We diagnosed this patient as aseptic meningitis with syndrome of inappropriate secretion of antidiuretic hormone (SIADH). EV71 was isolated from a fecal specimen. His general condition recovered by conventional therapies (drip fluid infusion, antibiotics, anticonvulsive drugs, and glycerol). He was discharged with no neurological sequelae. Although EV71 is well known as a pathogen of hand, foot, and mouth disease in Japan, we should recognize the occasional involvement of the central nervous system, that is meningitis, localized encephalitis and flaccid monoparesis.

Keywords: Enterovirus 71; Meningitis; Syndrome of inappropriate secretion of antidiuretic hormone B-I A patient with recurrent and chronic headaches

Kyoko Ojima, MD, Takashi Saga, MD, Tsunehisa Yamashita, MD, Ryoichi Sakuta, MD, Narumi Michihiro, MD, Hironori Shiihara, MD, Satoshi Fujikawa, MD, Motomizu Ariizumi, MD (Department of Pediatrics, Dokkyo University, School of Medicine, Saitama, Japan) A 9-year-old boy with recurrent and chronic headaches was presented. Carbamazepine and valproic acid were administered to him for several months but headaches were not

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improved. An episode of headaches continued for over 2 weeks. Ictal E E G showed spikes in the left parieto-occipital region and high voltage slow bursts in the left frontotemporal region. When we tried to administer diazepam intravenously at the time of the attack of headaches, both epileptiform discharges on E E G and severe headaches were diminished immediately. These results suggested that his headaches might be seizure headaches and we suspected that these episodes were status epilepticus without seizures. Head CT and MRI showed slight atrophy of the left cerebral cortex. SPECT also showed hypoperfusion in the left cerebral cortex. His episodes of headaches fulfilled Swaiman's criteria of seizure headaches. The pathophysiological relationship between the locus of the loci of E E G abnormalities and headaches is unknown.

Keywords: Seizure headaches; E E G B-2 A case of Landau-Kieffner syndrome: progress of a verbal auditory agnosia

Magoe Watanabe a'b, MD, Komei Kumagai a'b, MD, Mana Kurihara a'b, MD, Kihei Maekawa b, MD (aDepartmentof Pediatrics, The Kanagawa Rehabilitation Center, Atsugi, Kanagawa; bDepartment of Pediatrics, Jikeikai Medical College, Tokyo, Japan) The Landau-Kleffner syndrome is a childhood disorder associating acquired aphasia with multifocal spikes and spike and wave discharges in EEG, which are not stable in the course of the illness. We present a 7-year-old boy with Landau-Kleffner syndrome with verbal auditory agnosia. The onset was at 2 years 8 months with generalized tonic seizure and atypical absence. The onset was earlier than ususal for Landau-Kleffner syndrome and the seizure type accompanied by tonic seizure was also atypical. The seizures were easily controlled by ethosuximide. At the age of 4 years 2 months, the same seizures occurred again, but were controlled by valproate. From the age of 5 years 3 months, verbal auditory agnosia was recognized. After 1 month, the same seizures occurred frequently. Zonisamide was added to the prescription and seizures were controlled. During the course seizures occurred during waking periods. From 7 years 2 months his language disturbance was aggravated and a month later verbal response became impossible. Sometimes he showed an agressive tendency. During the course he showed several relapses of episodic cluster of epileptic attacks and auditory agnosia. Diffuse spike and wave discharge which increased in frequency during sleep was seen dominantly in the bilateral midtemporal and occipital area on EEG. His intelligence quotient (IQ) by WlSC-R was as follows; at 5 years 3 months: total IQ (TIQ) 83, verbal IQ (VIQ) 84, performance IQ (PIQ) 86, at 7 years 4 months: VIQ could not be examined, PIQ 79, and at 7 years 9 months: TIQ 75, VIQ 76, PIQ 75. We presented a case of Landau-Kleffner syndrome with unknown etiology. During the course he showed several relapses and remissions, but the symptoms were gradually aggravated.

Keywords: Landau-Kleffner syndrome; Acquired aphasia; Remission

B-3 A female case with complex partial status epilepticus (CPSE) with atypical clinical course

Masami Segawa, MD, Kyoko Hoshino, MD, Mihoko Kanzaki, MD, Kazue Takagi, MD, Kiyoshi Arimoto, MD, Keiichi Morooka, MD (First Department of Pediatrics, Faculty of Medicine, Toho University, Tokyo, Japan) A 19-year-old female with CPSE was reported. Epileptic convulsion started at 1 year and 8 month of age with generalized tonic clonic convulsions during febrile episodes. The seizures occurred 15-20 times a year and had been treated with various kinds of antiepileptic ,drugs (AEDs) including phenobarbital, phenytoin, carbamazepine and primidone. The seizures subsided around 10 years of age and AEDs were withdrawn by the age of 15 years. However, from around the age of 17 headaches without visual phenomena occurred once a week and from 18 years of age attacks with loss of consciousness with or without convulsions developed which tended to increase in duration up to 45 min. So she was admitted to our department at the age of 18 years and 11 months with a diagnosis of CPSE. Loss of consciousness occurred any time during waking periods with maximum duration of 3 h. At first seizures patterns showed typical alternation of non-responsive and partial responsive phases. In the former phase paroxysmal myoclonic movements were observed in the upper extremities, and E E G showed low voltage irregular fast activities followed by spike discharges with right frontal dominance. Interictal E E G revealed diffuse irregular spike and wave complexes with frontal dominance. No AEDs were effective in remedying this condition. Moreover the seizure pattern gradually changed to loss of consciousness without convulsive attacks, and E E G also changed the pattern to bursts of diffuse high voltage (4-5 Hz) slow waves with spike discharges. Although her IQ was 78 by the Tanaka-Binet IQ test, she had no psychological abnormalities. CT scan revealed no abnormalities. Blood chemistry showed no findings suggesting other causes of the disturbance of consciousness. We concluded, therefore, this was an atypical case of CPSE associated with CPS. Frequent episodes of fever induced seizures in early childhood were suspected as the cause.

Keywords: Complex partial status epilepticus; Headache; Loss of consciousness B-4 Complex partial status epilepticus with unilateral discharge

Naoto Yamada MD, Chung Yu Wang MD, Tasuku Miyajima MD, Masaaki Ogihara MD, Akinori Hoshika MD, Yasunori Oana MD (Departments of Pediatrics and Psychiatry, Tokyo Medical College Hospital, Tokyo, Japan) A 7-year-old girl with complex partial status epilepticus (CPSE) showed a continuous confusional state with periodic epileptiform patterns on the EEG. At birth her gestational age was 23 weeks and she weighed 724 g, and the brain echogram obtained then demonstrated subependymal hemorrhage around the right lateral ventricular system. However, her development was normal. From age 14 months to 4 years, she experienced 7 complex partial seizures and generalized tonic-clonic seizures during febrile episodes. At age 7, she complained of nausea followed by sudden deviation of the

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eyes and head to the left, and loss of consciousness with vomiting. When she was referred to our hospital, she had no fever but was in a continuous stupor with oral automatism. E E G recording repeatedly showed irregular 10 cps high voltage wave burst developing to an irregular 1.5-2.0 cps high voltage slow wave localized in the right hemisphere. Clinically she remained motionless with oral automatism, vacant eyes, and no response to calling. After intravenous administration of PTH, E E G discharges ceased and she recovered consciousness. Inter-ictal E E G and SPECT revealed focal abnormalities in the right temporal and frontal regions. The patient showed two characteristic features. First, ictal E E G showed unilateral discharges without spread to the other hemisphere. Secondly, total unresponsiveness with stereotyped automatism continued, whereas the ictal E E G showed recurrent epileptiform patterns. So, this case illustrates the difficulty of classification into the cyclic or noncyclic type of CPSE. The authors think that such atypical CPSE appears particularly in childhood.

The patient was started on carbamazepine. With gradual increase in dosage she responded considerably within 6 months. At the age of 2 years 6 months, she had a slight giggling fit of a few seconds' duration in the drowsy state. The anatomic localization for gelastic seizures is considered to be in various parts of the brain, such as the temporal lobe, hypothalamus, and some portion of limbic system. Furthermore the difference in pathophysiology between attacks with and without emotion has been discussed. The laughing attack of our case seemed not to have emotional processing but just phonation, rhythmic expirations and facial expression. MRI of our patient showed substantial changes of the amygdala and a part of basal ganglia on the right, however it is obscure when they occurred. These lesions were speculated to be responsible in part for the laughing attacks of this case, although clarification of the exact mechanism has to wait for future researches.

Keywords: Complex partial status epilepticus; Ictal E E G

B-6 The morphometric changes of Rolandic discharge (RD) on benign childhood epilepsy with centrotemporai spike

B-5 A case of gelastic seizure controlled by carbamazepine

Satsuki Ohkubo a, MD, Yoshiko Nomura b, MD (apediatric Division of Tokyo Teishin Hospital, Tokyo; bSegawa Neurological Clinic for Children, Tokyo, Japan) A gelastic seizure is a relatively rare type of seizures, often combined with other seizure types, and associated with intracraniai lesion, especially hypothalamic hamartoma. We present a 2-year-6-month-old female case with gelastic seizure, who is otherwise completely healthy with normal development, and her seizure was controlled by carbamazepine. The patient was born at term uneventfully to unrelated healthy parents, although her mother had a 1-week admission for acute pyelonephritis in the ninth conceptional month. The girl had normal psychomotor development. At 8 months of age she was referred to us because of the appearance of bouts of laughter without any particular cause. These episodes occurred all day long, even during sleep. On neurological examination, no abnormal signs were found except for a small white spot and a faint brown spot on her abdomen. During the compulsive laughter lasting a few seconds, her face was asymmetric looking like right facial nerve palsy. Her ictal laughter was not likely to be accompanied with a certain emotional change. EEGs, examined at the age of 8 months, 9 months, 11 months, 1 year 4 months, 1 year 10 months, and 2 years 5 months, showed predominantly right frontal and left centroparietal spikes. CT scan at the age of 6 months revealed no pathogenetic abnormalities. MRIs were done at 9 months and 2 years 5 months of age. The first study revealed asymmetry in the hypothalamus suggesting the possibility of a hypothalamic tumor, which was however ruled out by the follow-up examination showing a normal hypothalamus. Instead it revealed shrinkage of the right amygdala, and lesions with T1 low and T2 high signals in the internal capsule, the globus pallidus and putamen. These findings suggested ischemic change and especially the latter implied fine softening lesions around the small vessel.

Keywords: Gelastic seizure; Carbamazepine; MRI; Amygdala

Yasunori Oana a, MD, Akinori Hoshika b, MD, Tetsuhiko Matsuno b, MD, Masaaki Ogiharab, MD, Tasuku Miyajima b, MD, Chuan Yu Wangb, MD, Naoto Yamada b, MD (aDepartment of Neuropsychiatry and bDepartment of Pediatrics, Tokyo Medical College, Tokyo, Japan) For evaluating the basic mechanism of favorable prognosis of localization related epilepsies, we studied the morphological changes of RD in benign childhood epilepsy with centrotemporal spike. In five patients of benign childhood epilepsy with centrotemporal spike, we assessed the duration (mm) and the amplitude (/zV) of RD using two-dimensional dots putting the length of the duration on the X axis and the amplitude on the Y axis and evaluating their alteration with age and after antiepileptic drugs (AEDs). More than 20 RDs were selected in one E E G recording. The results showed that both the amplitude and the duration of RD became lower and shorter with age and after AEDs. In the course of disappearance, one part of RD overlapped the B wave or changed tiny spikes mimicking small sharp spikes.

Keywords: Rolandic discharge; Benign epilepsy; Spike; Aging B-7 The effects of Rolandic discharge on somatosensory evoked potentials and spikes

Masao Aihara, MD, Kazuo Hatakeyama, MD, Yuhko Kamiya, MD, Yoh-ichi Hinohara, MD, Chikako Shimoda, MD (Department of Pediatrics, Yamanashi Medical University, Yamanashi, Japan) Interictal E E G records in benign childhood epilepsy with centrotemporal (Rolandic) spike (BCECT) show multifocal spikes independent of each other and occasionally display the loci shifting from side to side in evolution of BCECq'. The actual source of such loci is not yet clear. Using somatosensory evoked potentials (SEP), the present study was designed to determine whether the origin of Rolandic discharge is located in the somatosensory cortex. Subjects were two BCECT patients with somatosensory evoked spikes (SES).

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The median nerve was stimulated at the wrist and the stimulus was triggered with various delays (0, 50, 100 and 200 ms) after the onset of the Rolandic discharge. The amplitude of SEP components (P20-N26 at frontal, N19-P23-N30 at central and N20-P26-N34 at parietal electrodes) remained essentially unchanged as compared with that of SEP obtained as a control in the same subject. Furthermore, when the Rolandic discharge was subtracted from the SEP containing the underlying Rolandic discharge, SESs (peak latency: 65, 70 ms, amplitude: 80, 110 /~V, respectively) were found to be completely preserved. These results suggest that the source of Rolandic discharge in BCECT does not involve the somatosensory cortex (i.e. 3a, 3b, 4 and 5).

Keywords: Benign childhood epilepsy with centrotemporal spike; Rolandic discharge; Somatosensory evoked potentials; Somatosensory evoked spikes B-8 Clinical study of theophylline-associated seizures in asthmatic children

Hiroyuki Uchiyama, MD, Tatsuro Koshibu, MD, Itsuo Suzuki, MD, Masaru Kishida, MD, Noriaki Shinomiya, MD, and Tsugutoshi Aoki, MD (Second Department of Pediatrics, Toho University School of Medicine, Tokyo, Japan) We studied the effects of theophylline in the control of convulsive attacks in patients with convulsive disorders. Thirteen patients with febrile convulsions and eight patients with epilepsy were subjected to this study. They had been receiving oral maintenance theophylline therapy at our institution over the past 10 years. Four of 13 patients with febrile convulsion and three of eight epileptic patients were refractory to treatment with standard anticonvulsant therapy. The seizures were more difficult to control in patients receiving theophylline than in those not receiving theophylline. Reduction of the dose of theophylline is favorable for the control of seizures. These results show that theophylline should be administered carefully to patients with seizures.

Keywords: Bronchial asthma; Theophylline; Febrile convulsion; Epilepsy B-9 High-dose vitamin B6 and low-dose ACTH combination therapy was effective in a case with symptomatic West syndrome

Akiko Kamiishi, MD, Tom Seki, MD, Yuuichi Takuma, MD, Mariko Maezawa, MD (Department of Pediatrics, Keio University, Tokyo, Japan) A combination therapy, high-dose pyridoxal phosphate (PAL-P, 40 m g / k g / d a y ) and low-dose ACTH (0.01 m g / k g / day), was tried on a male infant with symptomatic West syndrome. Onset of infantile spasms of the patient was at 8 months old. His family history was noncontributory. At the onset, hypsarrhythmia was observed on EEG. Valproic acid (VPA) (280 mg/day), PAL-P (15 m g / d a y ) and phenobarbital (PB) (20 m g / k g / d a y ) were started immediately. But the number of series of spasms was not reduced. Brain CT at the age of 9 months revealed a low density area in the right temporal lobe. At the age of 10 months, he was admitted to our hospital for high-dose PAL-P and low-dose ACTH corn-

bination therapy. There were no abnormal data in blood examination on the admission. Hypsarrhythmia was also observed on EEG. MRI and M R angiography suggested an old infarction of the right MCA. After withdrawal of PB, we increased PAL-P to 40 m g / k g / d a y . But it was ineffective. So we tapered VPA and started ACTH (synthetic ACTH ha-24_Z) after withdrawal of VPA. ACTH injection was started with a daily dosage of 0.01 m g / k g for the first 2 weeks. After this period it was given once every other day in the third week, twice a week in the fourth week, and once a week in the fifth week and in total 20 injections were given. Any evidence of side effects of ACTH was not observed. From the second day of the initiation of ACTH, seizures have not been observed. And from 2 weeks after the initiation of ACTH, E E G findings have been normalized. So this combination therapy showed a beneficial response even in a case with organic lesion. We think our combination therapy is very useful to reduce the dosage of A C T H and get a good long-term prognosis. Moreover, it is noteworthy that it could make ACTH therapy unnecessary if the initial high-dose PAL-P is effective. Although evaluation of the long-term prognosis of this case is necessary, our combination therapy is worth trying on such a case with symptomatic West syndrome.

Keywords: West syndrome, symptomatic; High-dose pyridoxal phosphate; Low-dose ACTH B-10 Early infantile epileptic encephalopathy with suppression burst (EIEE) developed into West syndrome in a case with congenital cerebral malformation (left unilateral megalencephaly): a case report

Ken-ichi Abo, MD, Hisao Miura, MD, Sakae Takanashi, MD, Hiroyuki Shirai, MD, Wataru Sunaoshi, MD, Nozomi Hosoda MD, Junko Abo, MD (Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan) Early infantile epileptic encephalopathy with suppression burst (EIEE) (Ohtahara syndrome) was first identified as a distinct syndrome by Ohtahara in 1976. It is the earliest onset form of age-dependent epileptic encephalopathy so far reported. This syndrome is characterized by early onset, within the first few months of life, frequent tonic spasms, and suppression burst pattern of E E G observed in both waking and sleeping states. In this report we describe EIEE occurring in a patient with congenital cerebral malformation (left unilateral megalencephaly) who later developed the West syndrome. The patient subsequently took an intractable clinical course. The patient was delivered by cesarean section at 36 weeks of gestation, and was the first child of a pair of twins. A giant lipoma was present in the patient's left face. A MRI scan of the head revealed left unilateral megalencephaly, which was thought to be due to lissencephaly. An E E G recorded 8 days after birth already showed a clear suppression burst pattern. Tonic spasms occurred in series at age 5 weeks, regardless of whether the patient was awake or asleep. On the basis of the clinical and E E G findings, a diagnosis of EIEE was made. High-dose (200 m g / d a y ) vitamin B6 therapy was ineffective. The spasms almost disappeared after the administration of cionazepam at a maintenance daily dose of 0.2 mg/kg, but

M. Segawa/ Brain & Development 1995; 17:442-57 hypsarrhythmia became the dominant E E G finding, subsequently. Since age 6.5 months, single generalized tonic spasms which lasted for a few seconds reappeared, 3 or 4 times every day. Concomitant administration of sodium valproate (VPA) was started with a daily dose of 30 m g / k g . After the dose was increased to 40 m g / k g / d a y , the frequency of seizures was reduced to about once a day. During the course of treatment, an E E G taken at age 13 months showed suppression burst again, but another E E G recorded at age 16 months disclosed hypsarrhythmia with periodicity. The hypsarrhythmia was accompanied by a suppression phase periodically. The seizures increased again at the age of 32 months. The daily dose of V P A was further increased to 50 m g / k g but failed to have any beneficial effects. Zonisamide was started with a daily dose of 2 m g / k g and the dosage was increased gradually to 10 m g / k g / d a y , with which the seizures were completely suppressed but only temporarily. Tonic seizures, which occurred at a frequency of about once a day, were observed again 1 month after this transient disappearance of seizure activity. The clinical course of EIEE which evolved into West syndrome in a patient with unilateral megalencephaly suspected to be lissencephaly was reported.

Keywords: Early infantile epileptic encephalopathy with suppression burst; Lissencephaly; Megalencephaly; Suppression burst E E G pattern; West syndrome B-11 A case of West syndrome associated with the surgical removal of choroid plexus angioma in the left lateral ventricle

Hitoshi Yamamoto, MD, Ikuyo Shindo, MD, Kumiko Horiguchi, MD, Bunsei Egawa, MD (Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan) West syndrome (WS) is an age dependent intractable epilepsy frequently associated with mental retardation. In the present study we described a case of WS seen 3 months after the surgical removal of choroid plexus angioma in whom partial seizures also developed simultaneously. At the age of 3 months, a well-developed boy was admitted to another hospital with fever and vomiting. Lumbar puncture performed on suspicion of meningitis revealed intracranial hemorrhage. Brain CT and MRI disclosed a large hematoma located in the left thalamus and localized dilatation of the inferior horn of the left lateral ventricle. He was diagnosed as having choroid plexus angioma and surgical removal of the hematoma was performed. At the age of 6 months, partial seizures and infantile spasms developed simultaneously. He was admitted to our hospital to control the seizures. E E G showed asymmetrical hypsarrhythmia. The partial seizures began before and continued after one or more nodding spasms which occurred in series. The patient was diagnosed as having WS at that time and was started on valproic acid which, however, was ineffective. Zonisamide (ZNS), started at 5 m g / k g / d a y and increased to the current dosis of 12 m g / k g / d a y , showed favorable effects. The seizures were well controlled and E E G showed only focal spikes at that point. WS has been classified in the cryptogenic or symptomatic generalized epilepsies in the International Classification of Epileptic Seizures but the clinical appearance of WS

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varies, having more myoclonic or partial seizures in some cases. ZNS might be effective in these cases.

Keywords: West syndrome; Partial seizure; Choroid plexus angioma; Zonisamide B-12 A case of the 'double cortex syndrome' accompanied by intractable epilepsy and mental retardation

Teruyuki Tanaka, MD, Kaoru Imai, MD, Hirokazu Oguni, MD, Yukio Fukuyama, MD (Department of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan) We report an 8-year-old girl patient with the 'double cortex syndrome' accompanied by intractable epilepsy and moderate mental retardation. Her psychomotor development was normal until the onset of epilepsy at 6 years and 2 months of age. Her first seizure was a myoclonic jerk of the upper extremities and eyelids. Afterward, frequent generalized tonic cionic seizures and astatic seizures, atypical absence appeared gradually, accompanied by mental deterioration. At an institute she went to before, carbamazepine, valproate, ethosuximide, clonazepam, TRH, and y-globulin were tried, but they had no favorable effects. Electroencephalogram showed diffuse high voltage 4 - 6 Hz of background activity and frequent high voltage slow polyspikes and wave or sharp waves at the bilateral frontal, central region. MRI showed polymicrogyria and a layer of iso-intense gray matter, i.e., diffuse subcortical band heterotopia between the wall of the lateral ventricle and the cortex. After ACTH intramuscular injection therapy at our department, the high voltage slow polyspikes and wave on E E G almost disappeared and convulsions ceased. With this change, her mental status, IQ, and activity of daily life obviously improved. The 'double cortex syndrome' is a characteristic clinical entity of neuroblast migrational disorders, lately recognized by high resonance MRI. We think that the 'double cortex syndrome' plays an important role as a cause of intractable epilepsy and its accurate diagnosis is important from the viewpoint of estimation of prognosis and treatment planning.

Keywords: Double cortex syndrome; Subcortical band heterotopia; Epilepsy; Mental retardation; MRI; Electroencephalogram; ACTH; Neuroblast migrational disorder B-13 A female patient with the severe infantile form of nemaline myopathy

Tasuku Miyajima a, MD, Akinori Hoshika a, MD, Takeshi Takami a, MD, Naoto Yamada ~, MD, Masato Sasamoto ~, MD, Yukito Takei a, MD, Hironao Numabe a, MD, Wang Chuan-Yu a, MD, Masaaki Ogihara~, MD, Mamoru Iizumi a, MD, Chieko Akiyama b, MD, Tarou Matsuoka b, MD, Ikuya Nonaka b, MD (aDepartment of Pediatrics, Tokyo Medical College, Tokyo; Dwtston of Ultrastructural Research, National Institute of Neuroscience, Kodaira, Tokyo, Japan) b

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A female infant was born at 36 weeks gestation and weighed 2646 g with hydrops fetalis. There was no family history of neuromuscular disease. The physical examination revealed generalized hypotonia, myopathic face, cleft palate,

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funnel chest and generalized muscle atrophy. There was no spontaneous motor activity, but she could breathe during the infantile stage. The right rectus femoris muscle biopsy performed at 6 months of age showed marked fibrous tissue proliferation and adipose tissue replacement. Most fibers were atrophic and round, measured a few to 10 /zm in diameter, and nemaline bodies were seen in atrophic fibers. Type 2C fiber was increased in number. Intramuscular peripheral nerves were moderately demyelinated. She was placed on a mechanical ventilator because of severe respiratory failure since 10 months of age. She died from heart failure at 3 years and 10 months of age. The left brachial biceps muscle at autopsy showed more markedly proliferated adipose and connective tissue with no visible muscle fibers. Myelinated fibers of left median nerve did not decrease in number and well myelinated. The above findings suggest that the muscle pathology in the severe infantile form is progressive with marked adipose tissue replacement and muscle fiber loss. The intramuscular nerve abnormality might be a secondarily induced phenomenon from muscle fiber degeneration.

Keywords: Nemaline myopathy; Severe infantile type B-14 A case of severe neonatal nemaline myopathy with serious respiratory distress from birth

Keiko Suzuki a, MD, Kitami Hayashi b, MD, Takashi Uehara b, MD, Keiko Shishikura b, MD, Haruko Suzuki b, MD, Sawako Sumita b, MD, Kayoko Saito b, MD, Makiko Osawa b, MD, Yukio Fukuyama b, MD (aDepartment of Pediatrics, Tokyo Women's Medical College Daini Hospital, Tokyo; bDepartment of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan) Nemaline myopathy, a major form of congenital myopathy, has been reported by many authors, but little is known about the pathogenesis. We recently experienced a floppy infant who had respiratory distress and feeding difficulty from birth. His clinical examination revealed both myopathic and neurogenic changes. At 2 months, the sucking reflex was very weak and he had difficulty in swallowing. He was able to raise his arms and legs slightly. Serum CK value was 54 IU/1. Muscle volume was decreased slightly on CT scan. MCV was normal, but SCV was scarcely recorded. E M G was partially exhibited neurogenic mixed with myogenic pattern. Muscle biopsy was performed on rectus femoris at 3 months. In cross section, numerous nemaline bodies, especially in small-caliber fibers, and group atrophy were recognized. A histochemical examination disclosed abnormal muscle fiber distribution from fascicle to fascicle; marked type 2 fiber predominance (87.5%) in a bimodal distribution measuring 5 mm and 25 mm resl~ectively in some small-caliber type 1 fibers measured 8.9 A}3.6 mm. In another fascicle a normal fiber type distribution was recognized, with type 1 fiber 36.6%, type 2A 31.3%, type 2B 32.1% with type 2 fiber atrophy (7.7 ,A}2.8 mm). We diagnosed 'nemaline myopathy' from these examinations. His abnormal muscle fiber type distribution suggested a neural influence during muscle development. He died of reccurent respiratory infection at 5

months, and an autopsy examination currently being undertaken may provide us a clue to the pathogenesis.

Keywords: Nemaline myopathy; Severe form; Group atrophy B-15 A study on a shape of the corpus caliosum in patients with Fukuyama type congenital muscular dystrophy (FCMD) by MRI

Zhi-Ping Wang, MD, Makiko Osawa, MD, Sawako Sumida, MD, Hiroko Murasugi, MD, Yukio Fukuyama, MD (Department of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan) This study was designed to determine whether abnormal development of the corpus callosum (CC) is present or not in FCMD. Subjects and methods: The corpus callosum (CC) of 24 FCMD patients was studied using midsagittal MRI and the results were compared with those of 20 age-matched controls. The measurements include: the thickness of the genu, body and splenium; the length, height and five specific angles of the CC. The cephalic index was also measured on axial MRI. The correlations among CC length, the five angles and the cephalic index were evaluated. Results: One case of FCMD was found to have CC agenesis. Reductions in the thickness of the genu, body, splenium and CC length were significant in FCMD. In addition, in FCMD, the CC height was increased, the a angle greater, the d angle reduced and the CC configuration more rounded, showing a high arch on imaging. No significant correlations among CC length, the five specific angles and the cephalic index were found in any of the FCMD data. Discussion: These findings are considered to be of value in detecting abnormal development of the CC and for evaluating CC involvement in FCMD.

Keywords: Fukuyama type congenital muscular dystrophy; Corpus callosum; MRI B-16 Poliomyelitis-like paralysis during recovery from asthmatic attack (Hopkins syndrome)

Kouichi Higashi, MD, Yuri Shimazaki, MD, Masazumi Yamashita, MD, Shouta Miyake, MD, Michiko Yamada, MD, Hiroko Iwamoto, MD (Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan) In 1974, Hopkins first reported patients with poliomyelitis-like paralytic features involving single to multiple extremities occurring during recovery from an attack of bronchial asthma. The patients subsequently developed marked amyotrophy of the affected limbs. The disease has been callled poliomyelitis-like illness following asthma, or Hopkins syndrome. The pathogenesis of this syndrome is still not known. A 6-year-old boy who had been vaccinated against polio virus was admitted to our hospital because of severe asthma attack and was treated with intravenous hydrocortisone, and aminophylline. He also received /3-stimulants by nebulizer. Four days after the onset, the asthma attack improved. And the next day he complained of headache, low-grade fever and muscle pain around the left leg which he could not move. Cranial nerves were intact. But left PTR was absent.

M. Segawa/Brain & Development 1995; 17:442-57 Cerebrospinal fluid examination revealed pleocytosis and elevated protein. On magnetic resonance imaging (MRI) of the lumbar spine performed on the second day, T2-weighted images showed a high intensity region in the left anterior horn. Electromygraphy of the left leg revealed severe axonal degeneration. Headache and muscle pain disappeared soon but flaccid paralysis remained. The patient developed marked amyotrophy of the affected leg with severe handicap as a sequela. The elevation of CSF protein had continued for 3 months subsequently.

Keywords: Hopkins syndrome; Polio-like flaccid paralysis; Marked progressive amyotrophy; Elevation of CSF protein B-17 A case of hereditary motor and sensory neuropathy with congenital cataract and mental retardation

Hideo Shimoizumi a'b, MD, Mika Matsui a'b, MD, and Shigeichi Kobayashi b, MD (aMedical and We~are Center for Handicapped People, Utsunomiya, Tochigi; Department of Pediatrics, Jichi Medical School, Tochigi, Japan) A 6-year-old boy with severe neuropathy, with onset in early childhood, associated with congenital cataract and mental retardation is reported. The disorder occurred in early childhood with weakness and wasting of the distal part of lower limbs, which were followed by marked pes cavus and equinovarus deformity on the right. Motor and sensory conduction velocities were moderately delayed in both lower and upper extremities bilaterally. Sural nerve biopsies revealed significant loss of large myelinated fibers. Neither demyelination nor onion bulbs were observed. These clinical and neuropathological findings are not compatible with those of previously reported hereditary motor and sensory neuropathy (HMSN) and a new variant, HMSN type II, is suggested.

Keywords: Hereditary motor and sensory neuropathy type II; Cataract; Mental retardation B-18 A case of hereditary motor and sensory neuropathy type II with onset at 2 years of age

Yumi Shiraiwa, MD, Makoto Funatsuka, MD, Keiko Shishikura, MD, Haruko Suzuki, MD, Makiko Osawa, MD, Yukio Fukuyama, MD (Department of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan) A case of hereditary motor and sensory neuropathy type II in early childhood is presented. The patient, a 4-year-old boy, had initially presented with steppage gait at 2 years of age. On examination he had distal muscle atrophy of the upper and lower extremities. He also had claw hands and scoliosis. Achilles tendon reflexes were absent. Neither cerebellar signs nor sensory disturbances were recognized. Motor nerve conduction velocity was slow, while sensory nerve conduction velocity was within normal limits. Electron microscopic examination of the sural nerve showed a decrease in the number of myelinated fibers and an absence of onion bulbs. We consider this case to be compatible with HMNS type II in early childhood reported by Ouvrier.

Keywords: Hereditary motor and sensory neuropathy; Distal muscle atrophy

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B-19 A case of Guillain-Barr~ syndrome that was treated well by double filtration plasmapheresis

Kou Honda, MD, Kimiko Hosoyama, MD (Chiba Kensei Hospital, Chiba, Japan) A 12-year-old girl suffered from acutely progressing motor weakness with paresthesia in both legs, accompanied by an isolated elevation of protein levels in CSF. Antibodies to gangliosides ( G D l a and G T l b ) were observed in her serum. On admission she could not walk 5 meters without support, so her clinical disability was thought to be grade 3. Double filtration plasmapheresis (DFPP; total 200 m l / k g ) was started 48 after admission. Disability grade decreased soon after DFPP. Complications such as hypotension, bleeding tendency and hypoalbuminemia were not observed during the course of treatment. At 6 months after the treatment, residual syndromes were not present except the persistent absence of DTRs. Plasma exchange has been accepted as a beneficial treatment for acute GBS, with its marked effects on shortening of the clinical course and reduction of the grade of disability, particularly in the acute phase. The standard criteria for indication of the treatment are expected to be established.

Keywords: Guillain-Barr6 syndrome; Double filtration plasmapheresis; Antibody to ganglioside B-20 MRI in patients with cerebral palsy

Junichirou Kobayashi, MD, Hiraotsu Hojo, MD, Katsuhiko Uguro, MD, Hideo Aiba, MD (Department of Pediatrics, Shizuoka Prefectural Children's Hospital, Shizuoka, Japan) Periventricular leukomalacia (PVL) is one of the most common neruopathological changes of the premature baby with perinatal asphyxia. But it is not rarely found in a term baby with perinatal distress. These babies generally develop cerebral palsy later in childhood. PVL in the neonatal period is recognized as a periventricular high density (PVH) on the T2-weighted MRI image of these children. We investigated the relationship between the MRI findings including PVL and clinical features of cerebral palsy. Subjects and methods: We carried out an MRI study in 97 CP patients. Twenty-eight of them who had PVH on MRI were subjected to this study. Eighteen were products of preterm delivery (gestational age < 37 weeks, P group), and 10 were products of term delivery (T group). Neurological findings and psychomotor development were assessed retrospectively. On MRI, PVH, thinning of the corpus callosum, ventricular dilatation and cortical atrophy were evaluated. Results: Ten of 18 patients (55.6%) in group P showed spastic diplegia and could not walk alone. Five of them (50%) in group T showed tetraplegia and did not walk. PVH was more marked in patients who did not walk, but there were no significant difference between the P and T groups. All of the other MRI findings (cortical atrophy, ventricular dilatation, thinning of the corpus callosum) were more marked in group T. It might be explained that patients in group T suffered from severer brain insults during the perinatal period compared to patients of group P. The severity of the thinning of the corpus collosum is related to the delay of the motor

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development, especially delayed acquisition of walking. On the other hand, the severity of the ventricular dilatation and cortical atrophy is related to delayed mental development. Conclusion: Our results suggest that the thinning of the corpus callosum is related to the delay of gross motor development. While ventricular dilatation and cortical atrophy is related to mental retardation. B-21 Glutaric aciduria type 1: neuroradiological and neurophysiological study

Nobuhiko Sasaki, MD, Masutomo Miyao, MD, Shigeichi Kobayashi, MD, Masayoshi Yanagisawa, MD (Department of Pediatrics Jichi Medical School, Tochigi, Japan) We present a 7-month-old girl with glutaric aciduria type 1, which is an inherited metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. This disease is characterized clinically by progressive dystonia and dyskinesia in childhood, biochemically by excretion of glutaric and 3-hydroxyglutaric acids in urine. She had undetectable glutaryI-CoA dehydrogenase activity in the peripheral lymphocytes and her parents, first cousins, had about half of the activities compared with normal controls. We examined her with neuroradiological and neurophysiological methods. The CT scan and MR image showed frontotemporal cerebral atrophy, severe widening of Sylvian fissures showing a square shaped configuration, bilateral subdural hematoma and signal abnormality of the lenticular nucleus. E E G revealed spikes and photic driving on the occipital area. BAEP demonstrated low voltage of wave V, prolonged I - I I I interpeak interval and elevated sensation level even after effective treatment with a G A B A analogue. These findings provided useful information in the diagnosis of glutaric aciduria type 1.

Keywords: Glutaric aciduria type 1; CT scan; M R image; EEG; BAEP B-22 A case of glycogenosis type lib childhood form

Naoki Shirnizu a, MD, Katsunori Fujii a, MD, Katsuo Sugita a, MD, Hiroo Niimi a , MD, Yuzo Tanabe b , MD ( a Department of Pediatrics, Chiba University School of Medicine, Chiba; bDepartment of Neurology, Chiba Children's Hospital, Chiba, Japan) A case of a 1-year-old boy with glycogenosis type lib childhood form was reported mainly with histochemical study on biopsy specimens of skeletal muscles. Glycogenosis type l i b childhood form is much rarer than type IIa infantile form or than type IIb adult form. We have found only five Japanese cases of glycogenosis type IIb childhood form in the last 10 years. This patient was the product of a full-term normal delivery. There is no family history of neuromuscular disease. He showed mild motor development delay and he was able to walk without support at 16 months. He showed a waddling gait at 18 months and was unable to stand up without support. Laboratory examination revealed serum CK, aldolase, GOT, GPT and L D H to be increased (CK1904 IU/1, aldolase 31.0 I U / I , G O T 270 IU/1, GPT 234 I U / I , L D H 1893

I U / I ) . The increased serum level of transaminase was relatively high compared with the serum level of CK. This tendency gives us important information for the differential diagnosis of metabolic myopathy from other types of myopathy. Muscle biopsy revealed vacuole formation and accumulation of PAS positive eosinophilic substance in half of the muscle fibers, but there was no destruction of muscle fibers. Vacuoles showed a high activity of acid phosphatase. This indicates a high activity of the response of lysosome. These findings are compatible with glycogenosis type II. Glycogenosis type IIb childhood form is usually found after 5 or 6 years of age with mild motor symptoms. In contrast, this reported case was exceptional showing clear motor symptoms at the age of 1 year.

Keywords: Childhood form; Glycogenosis type lib; Glycogen storage disease; Acid maltase deficiency; Pompe's disease; Metabolic myopathy V-I A case of Angelman syndrome - improvement on EEG resulting in decreased inappropriate laughter and jerky movements

Hiroki Michizu, MD, Hirokazu Oguni, MD, Yukio Fukuyama, MD (Department of Pediatrics, Tokyo Women's Medical College, Tokyo, Japan) We report on a 1-year-2-month-old child with chromosomally proven Angelman syndrome, whose continuous E E G abnormality was successfully treated by antiepileptic treatment. 24-h monitoring of E E G exhibited continuous generalized high amplitude slow wave discharge at 2-3 Hz mixed with spike and wave complexes throughout the recording, day and night, without apparent clinical manifestations. Combined VPA and ESM, followed by ACTH treatment, brought remarkable and sustained improvement on EEG. In addition, in accordance with E E G improvement, inappropriate laughter as well as jerky movements of the four limbs, hallmarks of this syndrome, significantly decreased. It is suggested that inappropriate laughter and jerky movements of the four limbs or puppet-like movement, being considered the characteristic symptoms of Angelman syndrome, are caused not only by static underlying encephalopathy, but also by electrical status epilepticus often persisting for many years in these patients. V-2 Myoclonic astatic epilepsy induced by audiogenic stimuli

Yoichi Sakakihara, MD, Akira Oka, MD, Masaya Kubota, MD, Shigehiko Kamoshita, MD (Department of Pediatrics, Faculty of Medicine, The University of Tokyo, Tokyo, Japan) Myoclonic astatic epilepsy in early childhood (MAIE) is a form of myoclonic epilepsy first described by Doose et al. It is characterized by the presence of three types of seizures: myoclonic astatic and absence, with predominant theta waves and bursts of diffuse polyspikes and waves in EEG. We present a 1-year-10-month-old boy who showed myoclonic and astatic seizure induced by audiogenic stimuli. The boy was neurologically normal, when he experienced the first brief myoclonic seizure. On E E G examination, short bursts of diffuse polyspikes and waves, irregular spike and waves

M. Segawa/Brain & Development1995;17."442-57 were noted. Under the tentative diagnosis of Lennox-Gastaut syndrome, antiepileptic medication was started. His myoclonic seizure was refractory to antiepileptic drugs (PB, PHT, VPA, CZP, ESM, NZP). In addition to the original myoclonic seizures, the boy developed astatic seizure, which was easily precipitated by audiogenic stimuli. By a sudden noise, such as the sound of a closing door, the patient in sitting position suddenly lost his postural tone and fell forward. A very slight extension of the extremities often (but not always) preceded astasia. Since various antiepileptics were ineffective, A C T H at a dose of 0.025 m g / k g / d a y for 2 weeks was started. Myoclonic seizure as well as astatic seizure disappeared with the improvement of E E G after 2 weeks of ACTH therapy. The boy is currently 4 years old with normal intelligence and development. He has been seizure free since ACTH therapy, with a normal EEG. Although the symptoms and E E G findings of this boy were similar to those of MAE, there are several differences. First, typical theta waves were not recorded in this boy. Second, audiogenic seizure has not been reported in MAE. Although we could not properly categorize this boy's seizure at present, it is felt that it might belong to a myoclonic epilepsy closely associated with MAE.

Keywords: Myoclonic astatic seizure; Audiogenic seizure; ACTH V-3 The diaphragm muscle involvement in a patient with congenital fiber type disproportion

Matsuko Suda, MD, Eiji Nakagawa, MD, Chiaki Endo, MD, Yu-ichi Goto, MD, Ikuya Nonaka, MD, Masataka Arima, MD (Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan) We present a 1-year-old girl with congenital fiber type disproportion (CFTD) who had progressive respiratory failure due to preferential diaphragm muscle involvement. She was born as the second of two siblings to healthy and unrelated parents. The pregnancy and delivery were uneventful except for decreased fetal movement. She was a floppy infant from birth and had tube feeding because of poor sucking. The face was long with mouth opened and expressionless. There were low set ears and high-arched palate. She was tachypneic even at rest. Responses to visual and auditory stimuli were absent. She had marked muscle atrophy, generalized hypotonia, weakness, hyperextensible joints and areflexia. Blood gas analysis revealed hypoxemia. At 4 months of age, she was intubated because of prolonged hypoxemia. The diagnosis of CFTD was made based on the muscle biopsy. She was placed on intermittent artificial ventilation from 18 months of age. The chest X-ray and X-ray video monitoring examinations showed the diaphragm to be elevated to the 5th intercostal space bilaterally and minimal movement. To compensate for the immobilized diaphragm intercostal and trapezius muscle movement was observed.

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Although CFTD is considered a non-progressive disease, two similar patients with respiratory failure from severe diaphragm involvement have been described in the literature. Therefore, for the care of patients with CFTD, one should evaluate the cardio-pulmonary function, especially the diaphragmatic movement, regularly.

Keywords: Congenital fiber type disproportion; Respiratory muscle involvement; Diaphragm impairment V-4 Bilateral striatal necrosis following acute encephalopathy Keiko Tsukamoto a, MD, Katsuyoshi Koh a, MD, Tetsuya Takamasu a, MD, Youko Kumazawa a, MD, Kouhei Suzuki a, MD, Akira Oka b, MD (aPediatric Department, Chigasaki Municipal Hospital, Kanagawa; bDepartment of Pediatrics, The University of Tokyo, Tokyo, Japan) Bilateral striatal necrosis (BSN) is a condition with heterogeneous pathophysiologies and etiologies such as Leigh encephalopathy, and diseases of unknown etiology. Here we report a case of the latter category showing a progressive clinical course. The patient is a 5-year-old Japanese-Peruvian girl. The family history was unremarkable. She was born in Peru and had been well until 10 months of age when she developed high fever, convulsion and impaired consciousness, which recovered spontaneously in a day. Cranial computed tomography (CT) was normal. Following this, however, her mental and motor deficits worsened gradually and she became bedridden. When she was first seen by us, she was unable to control her head and to roll over. Her posture was dystonic with marked rigidospasticity and choreoathetoid involuntary movements were present. Laboratory examinations on blood, urine and cerebrospinal fluid including acid-base balance, lactate, pyruvate, amino acids and organic acids were unremarkable. Electroencephalogram was characterized by diffuse high voltage theta background activity. Serial CT studies revealed progressive atrophy of the bilateral caudate nuclei. Bilateral pallidal hypodensities were shown by magnetic resonance imaging as high intensities on T2-weighted image and low on Tl-weighted image. In summary, the abrupt onset of clinical manifestation in this patient suggested that she was suffering from a mild form of acute encephalopathy. Gradual progression of motor symptoms thereafter indicated the underlying chronic neurodegenerative process. The progressive or gradual development of destructive lesions in the basal ganglia, which is apparently responsible for the involuntary movements, supported this notion. Although BSN is known to show various clinical courses, this case had a distinct feature with the acute onset followed by slow progression, which is uncommon in this entity.

Keywords: Bilateral striatal necrosis; Chorea; Dystonia; Involuntary movement; Acute encephalopathy