- Email: [email protected]
Neurocutaneous syndromes
71 Pedoscopic Studies on Neonatal Activity and the Center of Gravity after Delivery (II)
Nagao Usui, BS, Atsuhiro Soeda, MD, Shinichiro Hamano, MD, Naoko Maekawa, MD, Shigeo Yokoi, MD, Kihei Maekawa, MD, Takeo Kiryu, PhD, Yaichiro Hirasawa, PhD, Mitsuharu Wada, BS, Akira Kamanaka, BS and Keisuke Yanagihara, BS Department of Pediatrics, likei University of Medicine, Tokyo (NU, AS, SH, NM, SY, KM); Department of Physical and Health Education, Tokyo Institute of Technology, Tokyo (TK); University of the Air, Tokyo (YH); Institute of Human Body Science, Tokyo (MW, AK); Atom KK, Tokyo (KY) The purpose of this study was to investigate the change in neonatal activity after delivery with a pedoscope.
Methods Each subject was maintained in the supine position and the prone position on glass for 60 seconds while naked. Movement of the center of gravity of the body was measured with a pedoscope. The subjects were full-term infants of over 2,500 g birth weight, and the center of gravity was measured from birth until the 5th to 11th day. Results 11 The movements of the infants were large just after starting the measurement (0-10 sec), and then became smaller gradually. This tendency was not int1uenced by age. 2) The amplitude of the center of gravity in the supine position was smaller just after delivery (0-2 day), and then became larger (1-3 day) and then smaller again (3-5 day), and after that became larger again. 3) The time interval of the center of gravity in the supine position was shorter just after starting (0-10 sec), and then became longer gradually. 4) The time interval of the supine position was longer just after delivery. and then became shorter gradually. 5) The amplitude in the prone position showed a similar tendency with to that in the supine position. 6) The time interval in the prone position was not int1uenced by age, and did not change very much. Conclusion The neonatal activity was estimated from the movement of the center of gravity, measured with a pedoscope. It was recognized that there was a birth shock period, and then the activity became larger gradually with age, but the infants became adapted to external stimuli, so the activity became smaller from 3 to 5 days of age.
72 Electrophysiological Studies on Peripheral Neuropathy in Xeroderma Pigmentosum
Naoyuki Itoh, MD, Takashi Mimaki, MD, Tetsuzo Tagawa, MD, lunko Tanaka, MD, Haruo Terada, MD, lifo Abe, MD, Hyakuji Yabuuchi, MD and Kenji Satoh, MD Section of Pediatric Neurology, Department ofPediatrics (NI, TM, TT, IT, HT, lA, HY) and Dermatology (KS) , Osaka University Medical School, Osaka
Xeroderma pigmentosum is a less familiar neurocutaneous disorder. We conducted EMG examination of 35 patients with xeroderma pigmentosum (30, group A, and 5, non group Al. Motor nerve conduction velocity (MCV), sensory nerve conduction velocity (SCV) in the tibialis posterior and median nerves, duration and amplitude of the M-wave in the tibialis posterior nerve, and routine needle EMG in the tibialis anterior muscle were recorded in these patients.
Results 1. Mild decreases in MCV and SCV in the tibialis posterior and median nerves were observed in patients with group A xeroderma pigmentosum over 5-6 years old. On the other hand, all five patients with non group A xeroderma pigmentosum showed normal MCV and SCV. 2. The duration of the M-wave in the tibialis posterior nerve showed no prolongation in value almost all the patients with group A xeroderma pigmentosum. However, the amplitude of the M-wave in the tibialis posterior nerve showed a decrease in value in two-thirds of the patients with group A xeroderma pigmentosum over 5 years old. 3. Needle EMG in the tibialis anterior muscle showed neurogenic change in half of the patients between land 4 years, and all the patients with group A xeroderma pigmentosum over 5 years old. Conclusion Group A xeroderma pigmentosum showed a severe and early onset of neurological abnormalities on neuropathic EMG. The results of this study indicate that the axonal involvement is responsible for the peripheral neuropathy in group A xeroderma pigmentosum, and that EMG is a valuable method for evaluating the peripheral neurological involvement and clinical course in xeroderma pigmentosum. Key words: Xeroderma pigmentosum, EMG findings, peripheral neuropathy.
Key words: Center of gravity, amplitude, time interval, full·term infant, supine position, prone position.
Brain & Development, Vol 8, No 2,1986
143
73
Clinical and CT Findings in Neurocutaneous Syndromes
Haruko Naitoh, MD, Hiroko Sibui, MD , Kenji Nihei, MD, Yukio Saitoh, MD and Kazuya Yamamoto, MD Departmel1ts of Neurology (HN, HS, KN) and Dermatology (YS, KY), National Ch ildren's Ho spital, Tokyo
Neurocutaneo us syndromes are combina tions of congenital lesions of the skin and nervous syste m with a wide variety of visceral and somatic abnormalities. Often apparent at birth , they may gradually ap pea r in childhood. In the Depar tm ent of Neurology of the National Children's Hosp ital we studied the clinical, electrophysiological and ra diological featur es in 212 patients with neurocutaneo us syndromes: Recklinghausen disease, Sturge Web er disease, tubero us scle rosis and in continentia pigmenti. I. Stud y on 126 pat ients with Recklinghau sen disease, 64 females, 62 males, aged from 2 momths to 19 years (average, 5 years) : I) Cafe au lait spo ts, 100'/0, the earliest at birth. 2) Sm all subcutaneous tumors 32.9%, 78% of which appeared between 1 to 5 years. 3) Iris nodules were the most frequent ocular manifestation (67.3%) in early infancy , and the ear liest was recognized at 2 months of age. 4) Neurological study on 64 pat ients; mental retardation 17 , motor delay 13, epilepsy 13, moya-m oya disease 2, an arc hnoid cyst in the left middle cranial fossa 3, cerebral tumor 1, brain atrop hy 6, and optic glioma 2 (onc of which showed precocio us puberty and moya-moya disease. too). Optic nerve enlargement was recognized in 5 when co mp ared with the no rmal mean value for optic nerve diameter which was determined on CT film by us (4.1 ± 0.9 mm, n = 62). II. Study of 49 patients with facial haemangioma, 28 fem ales, 21 males, aged 14 days to 13 years, ave rage 1 year and 9 month s: mental retardatio n in 20.4% and moto r d elay in 18.4%. Co nvulsions occurred in 20.4%; genera lized seizures 7/ 10 and partial seizures 3/10. Ocu lar findings were co ngenital glaucoma 4 and abnormal retinal blood vesse ls 2. CT scan s ex hibited intracranial calcification in 5, brain atro phy in 4, an arachnoid cyst in the left middle fossa in 1, and a Dandy-Walker cyst in 1. Abou t 47 percent of the patients with facial haemangio ma showed some neurologica l and/o r ocular manifes tations. III. In 19 patients with tuberous sclerosis (5 females, 14 males), oval white spots were found in all, adenoma sebaceum in 37%. which appeared from 1 to 5 years of age, and retinal tumors in 7/7. There was severe mental retardation in 88% and epilepsy in 89% (infantile spasms 68%). CT scans showed calcification in 84%. There were a polycystic kidney and hypertension in 1, a Wilms' tum or and deafness in 1, and hemihyp ertrophy and syndactyly in 1. IV. Study of 18 patie nts with incontinentia pigmenti (14 females, 4 male s, aged 1 day to 6 years) showed charac teristic skin lesions, severe mental retardation 6 , convulsions 9 , hemiatrophy 3 and severe visual disturbance 3, due to retinitis. Neuro cutaneous syndromes showed many serious neurologic al, ocular and psychological problems.
144 Brain & Developm ent, Vol 8, No 2,1986
Key words: Neurocutaneous syndrom e, R ecklinghausen disease, Sturge- Weber disease, incontinel1tia pigmel1li, tuberous sclerosis, optic nerve diameter.
74
Disorders of Lymphocyte Maturation, Helper T Cells and Anti T Cell Antibody in Sisters with Ataxia Telangiectasia
Isamu Tamai, MD, Makiko Okuy ama, MD, TO/u Aoki, MD and Yukikatsu Ochiai, MD Tamai Neuropediatric Clinic, Ebina , Kanagawa (IT) ; Division of Neurology (MO, TA), Saitama Children 'S Medical Cel1ler, Saitama (MO, TA) ; Department oj' Pediatrics, likei University School of Medic ine, Tokyo (YO) Immunological examinations we re carried (J U t on two siste rs (10 years and 12 years old) with ataxia telangiectasia. Serum IgA and IgE were low, and seru m a-fetoprotein was high. Also , the specific IgG to EpsteinBarr virus capsid antigen was elevated. The number of peripheral lymp hocy tes was decreased , and the blast for mation in respo nse to phytohemagglutinin , concanavalin A and poke-weed mitoge n was low. The delay ed type skin reac tion was decreased. The OKT 9 and OKT 10 subsets of peripheral lym phocytes were in creased. The OKT 3 and LeuI subset s were decreased. F urthe rm ore, immun o logical studies showed that the perce ntages of IgMfc R+ cells, and the OKT 4 , Leu3A and Leu4 subsets were decreased . The elder sister showed increased anti T ce ll antibody. These data suggested that these pat ients had a broad defect of lym phocy te maturation. as well as a helper T cell defec t, and that a brain associated T cell antige n between l ymphocytes and brain-tiss u ~ affected the progressive mental deter iorat ion increased of these pa tien ts.
Key words: Ataxia telangiectasia, neuroimmunology, disorders of lymphocy te maturation , a helper T cell defect, al1ti T cell antibody.
75
76 .
A Case of Infantile Spasms with Multiple Neurofibromatosis
Nonconvulsive Status Epilepticus in a Child with Sturge-Weher Syndrome
Haruo Terada , MD, Takashi Mimaki, MD, Nobuaki Takiyama, MD, Tetsuzo Tagawa, MD , lunko Tanaka, MD, Naoyuki ltoh, MD and Hy akuji Yabuuchi, MD Section of Pediatric Neurology, Department of Pediatrics, Osaka University Medical School, Osaka
Neurofibromatosis is a hamartomato us disorder of neural crest derivation. Maj or and minor motor seizures are well-known complications of multiple neurofibromatosis. However, infa ntile spasms have se ldom been associated with this disord er. A 4-m o nth-old girl with multiple neuro fibromatosis who developed infantile spasms a t 3 mo nths of age was presented. Delivery was spontaneous and her birth weight was 3.7 kg. At birth the child was found to have bilateral glaucoma. When the patient was one month of age, trabeculectomy and trabeculotomy of the right eye were performed. Her m other had cafeau-lail spots. Both her father and uncle had a history of epilepsy. At 3 months of age, the patient had a series of seizures of infantile spasms consisting of sudden flexion of the neck and trunk , and forward flexion of the arms. Seizures occurred several times a day in clusters of several minutes of rep eated spasms. On physical examination, the patient was found to have a lot of cafe-au-lait spots. No abnormal findings were seen on routine laboratory examinations. Her first EEG at 4 months of age revealed a modified hypsarrhythmic pattern consisting of high amplitude disorganized background activity and superimposed multifocal spikes. One week after the initiation of vitamin B6 (200 mg/day) administration, her seizure attacks had ·disappeared. However, seizure attacks had appeared again with mild elevation of serum GOT and GPT 11 d ays after vitamin B6 was increased to 300 mg/ day. After the administration of clonazepam, a remarkable d ecrease in seizure frequency occurred . When the patient was 7 months of age, the seizure attacks had co mpletely disappeared . Whe n th e patient was 10 months of age, her DQ was 94 and no developmental delay was seen, with no clinical se izu res.
Key words: spasms.
Multiple neurofibromatosis, infantile
Tetsu zo Tagawa , MD , Takashi Mimaki, MD. Haruo Terada, MD , Yoshihisa Tanaka. MD, lunko Tanaka, MD. Naoyuki Ito, MD, Hyakuji Yabuu chi, MD and Morifu sa Kam io, MD Department of Pediatrics. Osaka University Medical School (TT, TM, HT. YT, fT. NI. HY). Osaka; Department of Pediatrics. Osaka Teishin Hospital (MK). Osaka Sturge-Weber sy ndrome, one of the neuro cutaneous syndromes, is clinically characterized by facia l angioma , seizure s and mental retardation. The commonest seizure type seen in this syndrome is fo cal o r h m e iconvulsions; nonconvulsive status epilepticus ha s no t prev iously been reported. In this paper a case of S turge-Weber sy ndro me associated with nonconvul siv e status epilept icus was reported. A 4-y ear-old girl was admitted to hospit al due to her confused state and left hemiparesis. Her perinatal course had been uneventful, but facial heman gio ma was noted from birth. At 2 months, she suffered from left hemic onvulsion, and thereafter she had been trea ted with anti co nvulsants. After 2% years she had no further convulsio ns and so the anticonvulsant therapy was discontinued . She was referred to our Pediatric Neuro logy Clinic at 4 years of age. A diagnosis of Sturge-Weber sy ndrome was made o n the basis of clinica l manifestations such as facial hemangioma, hemico nvulsions, buphthalmus and intrac ranial calcifications. One day prior to admission, mild co ntusions Were seen in her mandibular region and sh e vomited several times. Her parents noted that sh e was unresponsive t o stim uli and hemiparetic on the le ft side. On admission she was expressionless with open eyes and did not respond to external stimuli. Neurological examination disclosed left hemiparesis. A cranial CT scan revea led n o abnormal findings except for diffu se calcifications on the right cerebral hemisphere. Cerebral angiography showed a markedly abnormal venous drainage pattern . EEG showed continuous bilateral synchronous slow waves with multifocal sp ikes. Following i.v. injection of diazepam , the continu o us bilateral synchronous slow waves soon disappea red. Simultaneously, she regained partial consciousness and began to respond to stimuli. Anticonvulsant therapy was started on the diagnosis of nonconvulsive status epilepticus. Her impaired consciousness recovered comple tely several days later and left hemip aresis also improv ed gradu ally until she was able to walk alone again .
Key words: Sturge-Weber syndrome, nonconvulsive status epilepticus.
Brain & Development, Vol 8, No 2, 1986 145
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78
Neurological Manifestations and Cytophysicochemical Abnormalities in Xeroderma Pigmentosum
Locomotor Prognosis at 4 Years in Cerebral Palsy
Takashi Mimaki, MD , Naoyuki Itoh, MD, Tetsuzo Tagawa, MD, Junko Tanaka, MD, Hartlo Terada, MD, Takahiro Sugita, MD, Hyakuji Yabuu chi, MD and Kenji Satoh, MD Section of Pediatric Neurology, Departm ents of Pediatrics (TM, NI, TT, JT, HT, TS, HYj and Dermatology (KSj, Osaka University Medical School, Osaka
Xeroderm a pigmentosum is an unu sual n eurocutaneous disord er with associated neurologica l abnormalities. Recent studies have revealed that p atie nts with xeroderma pigmcnto sum can b e classified int o nine gro ups and one variant form by so matic cell hybridiz ation m ethods. In this study, we describ e 32 patien ts with group A xer oderma pigmentosum , in cluding a n atypical case, wh o were assessed as to neurolog ica l co mplications. Of these patients, 17 show ed microcephaly and 13 a short stature. Twenty-seven patients were assessed as to mental status, and 20 showed me ntal r etardation. Of 23 patients of over 7 years of age , 20 had nerve deafness and 12 showed spino-cerebellar signs such as nystagmu s, dysarthria, trem or and a tax ia; while no patients below 7 years' of age had such n euro logical complica tions_ Twenty-six patients were examined elec troencephalographically , and 11 showed abnormally s low background activit y, and 4 low vo ltage. Tw o patients showed fo cal abn orm al di scharges, one of wh om developed adversive seizu res. CT w as performed in 21 patients, of whom 15 showed abnormal findings including ventricular dilatation (n = 12), cerebral atrophy (n = 12), cerebellar atrophy (n = 2), brain stem atrophy (n = 3) and cranial b one thickening (n = 7) . T he atypical case of grou p A xe roderma pigmentosum had mu ch less se ve re skin lesions as well as neuro logica l manifestatio ns th an those of the typical group A xeroderma pigmentosum cases. Studies o n this patient revealed the twice as high l evels o f p sto ultraviole t colon y forming abilit y and host ce ll reactivati on as those in the typ ical group A patients with xeroderma pigmentosum. It is possible that these less severe cytophysicochemica l findings are resp onsible for the less severe skin lesions and neurological complications noted clinica lly .
K ey words: Xeroderma pigmentosum, neurological manifestations.
146 Brain & Development, Vol 8, No 2, 1986
Toyoko Kanda, MD, Hiroshi [<"ukase, MD, Yuriko ariko Yuge, MD Yamori, MD and M Departments of Neuropediatrics (TK, YY, MY) and Orthopedics (HF) , St Joseph Hospital for Ha ndicapped, Kyoto The found at ion of the effect of Vojta trea tm ent is th e early starting of t he tr eatment and the persisting of long tra ining. The parents have hope s to know the fu ture if t heir child ren need long trea tm en t. So we attempt ed t o kn ow the lo co motor prognosis a t 4 years of age fr om th e fir st. We studied 93 cases of ce rebral palsy who fir st visited the hospital b etw een 1978 and 198 2 ( at that tim e t he diagnosis was the risk for cerebral pa lsy or cerebral pa lsy) and have been fully train ed more than 1 year. The age when they visited th e hosp ita l first was between 1 month of age and 3 year s 7 months o f age. The ex amined items were the developm en ta l l evel of pro ne postu re or the locomotion at the fi rst visit , typ es of cerebral palsy, CT findings and the deg ree of mental retarda tion. All the items were usefu l for suspect ing the f utu re loco motion by s tatistica lly d iffer ence. And the s uspecting o f prognosis was accura te by 86.2%. So , by s uspe ct ing the lo comotor prognosis a t 4 years of age, we can support the parent s and can give them vario us services like case wo rk for the eeling f of the parent s, guid ance fo r dealing with the f amily. guidance fo r nursing the ill children , introduct ion fo r the kind ergarte n and introduction of other econo mic services.
Key words: Locomotor prognosis, cerebral palsy, Vojta method.
Nagao Usui, BS, Atsuhiro Soeda, MD, Shinichiro Hamano, MD, Naoko Maekawa, MD, Shigeo Yokoi, MD, Kihei Maekawa, MD, Takeo Kiryu, PhD, Yaichiro Hirasawa, PhD, Mitsuharu Wada, BS, Akira Kamanaka, BS and Keisuke Yanagihara, BS Department of Pediatrics, likei University of Medicine, Tokyo (NU, AS, SH, NM, SY, KM); Department of Physical and Health Education, Tokyo Institute of Technology, Tokyo (TK); University of the Air, Tokyo (YH); Institute of Human Body Science, Tokyo (MW, AK); Atom KK, Tokyo (KY) The purpose of this study was to investigate the change in neonatal activity after delivery with a pedoscope.
Methods Each subject was maintained in the supine position and the prone position on glass for 60 seconds while naked. Movement of the center of gravity of the body was measured with a pedoscope. The subjects were full-term infants of over 2,500 g birth weight, and the center of gravity was measured from birth until the 5th to 11th day. Results 11 The movements of the infants were large just after starting the measurement (0-10 sec), and then became smaller gradually. This tendency was not int1uenced by age. 2) The amplitude of the center of gravity in the supine position was smaller just after delivery (0-2 day), and then became larger (1-3 day) and then smaller again (3-5 day), and after that became larger again. 3) The time interval of the center of gravity in the supine position was shorter just after starting (0-10 sec), and then became longer gradually. 4) The time interval of the supine position was longer just after delivery. and then became shorter gradually. 5) The amplitude in the prone position showed a similar tendency with to that in the supine position. 6) The time interval in the prone position was not int1uenced by age, and did not change very much. Conclusion The neonatal activity was estimated from the movement of the center of gravity, measured with a pedoscope. It was recognized that there was a birth shock period, and then the activity became larger gradually with age, but the infants became adapted to external stimuli, so the activity became smaller from 3 to 5 days of age.
72 Electrophysiological Studies on Peripheral Neuropathy in Xeroderma Pigmentosum
Naoyuki Itoh, MD, Takashi Mimaki, MD, Tetsuzo Tagawa, MD, lunko Tanaka, MD, Haruo Terada, MD, lifo Abe, MD, Hyakuji Yabuuchi, MD and Kenji Satoh, MD Section of Pediatric Neurology, Department ofPediatrics (NI, TM, TT, IT, HT, lA, HY) and Dermatology (KS) , Osaka University Medical School, Osaka
Xeroderma pigmentosum is a less familiar neurocutaneous disorder. We conducted EMG examination of 35 patients with xeroderma pigmentosum (30, group A, and 5, non group Al. Motor nerve conduction velocity (MCV), sensory nerve conduction velocity (SCV) in the tibialis posterior and median nerves, duration and amplitude of the M-wave in the tibialis posterior nerve, and routine needle EMG in the tibialis anterior muscle were recorded in these patients.
Results 1. Mild decreases in MCV and SCV in the tibialis posterior and median nerves were observed in patients with group A xeroderma pigmentosum over 5-6 years old. On the other hand, all five patients with non group A xeroderma pigmentosum showed normal MCV and SCV. 2. The duration of the M-wave in the tibialis posterior nerve showed no prolongation in value almost all the patients with group A xeroderma pigmentosum. However, the amplitude of the M-wave in the tibialis posterior nerve showed a decrease in value in two-thirds of the patients with group A xeroderma pigmentosum over 5 years old. 3. Needle EMG in the tibialis anterior muscle showed neurogenic change in half of the patients between land 4 years, and all the patients with group A xeroderma pigmentosum over 5 years old. Conclusion Group A xeroderma pigmentosum showed a severe and early onset of neurological abnormalities on neuropathic EMG. The results of this study indicate that the axonal involvement is responsible for the peripheral neuropathy in group A xeroderma pigmentosum, and that EMG is a valuable method for evaluating the peripheral neurological involvement and clinical course in xeroderma pigmentosum. Key words: Xeroderma pigmentosum, EMG findings, peripheral neuropathy.
Key words: Center of gravity, amplitude, time interval, full·term infant, supine position, prone position.
Brain & Development, Vol 8, No 2,1986
143
73
Clinical and CT Findings in Neurocutaneous Syndromes
Haruko Naitoh, MD, Hiroko Sibui, MD , Kenji Nihei, MD, Yukio Saitoh, MD and Kazuya Yamamoto, MD Departmel1ts of Neurology (HN, HS, KN) and Dermatology (YS, KY), National Ch ildren's Ho spital, Tokyo
Neurocutaneo us syndromes are combina tions of congenital lesions of the skin and nervous syste m with a wide variety of visceral and somatic abnormalities. Often apparent at birth , they may gradually ap pea r in childhood. In the Depar tm ent of Neurology of the National Children's Hosp ital we studied the clinical, electrophysiological and ra diological featur es in 212 patients with neurocutaneo us syndromes: Recklinghausen disease, Sturge Web er disease, tubero us scle rosis and in continentia pigmenti. I. Stud y on 126 pat ients with Recklinghau sen disease, 64 females, 62 males, aged from 2 momths to 19 years (average, 5 years) : I) Cafe au lait spo ts, 100'/0, the earliest at birth. 2) Sm all subcutaneous tumors 32.9%, 78% of which appeared between 1 to 5 years. 3) Iris nodules were the most frequent ocular manifestation (67.3%) in early infancy , and the ear liest was recognized at 2 months of age. 4) Neurological study on 64 pat ients; mental retardation 17 , motor delay 13, epilepsy 13, moya-m oya disease 2, an arc hnoid cyst in the left middle cranial fossa 3, cerebral tumor 1, brain atrop hy 6, and optic glioma 2 (onc of which showed precocio us puberty and moya-moya disease. too). Optic nerve enlargement was recognized in 5 when co mp ared with the no rmal mean value for optic nerve diameter which was determined on CT film by us (4.1 ± 0.9 mm, n = 62). II. Study of 49 patients with facial haemangioma, 28 fem ales, 21 males, aged 14 days to 13 years, ave rage 1 year and 9 month s: mental retardatio n in 20.4% and moto r d elay in 18.4%. Co nvulsions occurred in 20.4%; genera lized seizures 7/ 10 and partial seizures 3/10. Ocu lar findings were co ngenital glaucoma 4 and abnormal retinal blood vesse ls 2. CT scan s ex hibited intracranial calcification in 5, brain atro phy in 4, an arachnoid cyst in the left middle fossa in 1, and a Dandy-Walker cyst in 1. Abou t 47 percent of the patients with facial haemangio ma showed some neurologica l and/o r ocular manifes tations. III. In 19 patients with tuberous sclerosis (5 females, 14 males), oval white spots were found in all, adenoma sebaceum in 37%. which appeared from 1 to 5 years of age, and retinal tumors in 7/7. There was severe mental retardation in 88% and epilepsy in 89% (infantile spasms 68%). CT scans showed calcification in 84%. There were a polycystic kidney and hypertension in 1, a Wilms' tum or and deafness in 1, and hemihyp ertrophy and syndactyly in 1. IV. Study of 18 patie nts with incontinentia pigmenti (14 females, 4 male s, aged 1 day to 6 years) showed charac teristic skin lesions, severe mental retardation 6 , convulsions 9 , hemiatrophy 3 and severe visual disturbance 3, due to retinitis. Neuro cutaneous syndromes showed many serious neurologic al, ocular and psychological problems.
144 Brain & Developm ent, Vol 8, No 2,1986
Key words: Neurocutaneous syndrom e, R ecklinghausen disease, Sturge- Weber disease, incontinel1tia pigmel1li, tuberous sclerosis, optic nerve diameter.
74
Disorders of Lymphocyte Maturation, Helper T Cells and Anti T Cell Antibody in Sisters with Ataxia Telangiectasia
Isamu Tamai, MD, Makiko Okuy ama, MD, TO/u Aoki, MD and Yukikatsu Ochiai, MD Tamai Neuropediatric Clinic, Ebina , Kanagawa (IT) ; Division of Neurology (MO, TA), Saitama Children 'S Medical Cel1ler, Saitama (MO, TA) ; Department oj' Pediatrics, likei University School of Medic ine, Tokyo (YO) Immunological examinations we re carried (J U t on two siste rs (10 years and 12 years old) with ataxia telangiectasia. Serum IgA and IgE were low, and seru m a-fetoprotein was high. Also , the specific IgG to EpsteinBarr virus capsid antigen was elevated. The number of peripheral lymp hocy tes was decreased , and the blast for mation in respo nse to phytohemagglutinin , concanavalin A and poke-weed mitoge n was low. The delay ed type skin reac tion was decreased. The OKT 9 and OKT 10 subsets of peripheral lym phocytes were in creased. The OKT 3 and LeuI subset s were decreased. F urthe rm ore, immun o logical studies showed that the perce ntages of IgMfc R+ cells, and the OKT 4 , Leu3A and Leu4 subsets were decreased . The elder sister showed increased anti T ce ll antibody. These data suggested that these pat ients had a broad defect of lym phocy te maturation. as well as a helper T cell defec t, and that a brain associated T cell antige n between l ymphocytes and brain-tiss u ~ affected the progressive mental deter iorat ion increased of these pa tien ts.
Key words: Ataxia telangiectasia, neuroimmunology, disorders of lymphocy te maturation , a helper T cell defect, al1ti T cell antibody.
75
76 .
A Case of Infantile Spasms with Multiple Neurofibromatosis
Nonconvulsive Status Epilepticus in a Child with Sturge-Weher Syndrome
Haruo Terada , MD, Takashi Mimaki, MD, Nobuaki Takiyama, MD, Tetsuzo Tagawa, MD , lunko Tanaka, MD, Naoyuki ltoh, MD and Hy akuji Yabuuchi, MD Section of Pediatric Neurology, Department of Pediatrics, Osaka University Medical School, Osaka
Neurofibromatosis is a hamartomato us disorder of neural crest derivation. Maj or and minor motor seizures are well-known complications of multiple neurofibromatosis. However, infa ntile spasms have se ldom been associated with this disord er. A 4-m o nth-old girl with multiple neuro fibromatosis who developed infantile spasms a t 3 mo nths of age was presented. Delivery was spontaneous and her birth weight was 3.7 kg. At birth the child was found to have bilateral glaucoma. When the patient was one month of age, trabeculectomy and trabeculotomy of the right eye were performed. Her m other had cafeau-lail spots. Both her father and uncle had a history of epilepsy. At 3 months of age, the patient had a series of seizures of infantile spasms consisting of sudden flexion of the neck and trunk , and forward flexion of the arms. Seizures occurred several times a day in clusters of several minutes of rep eated spasms. On physical examination, the patient was found to have a lot of cafe-au-lait spots. No abnormal findings were seen on routine laboratory examinations. Her first EEG at 4 months of age revealed a modified hypsarrhythmic pattern consisting of high amplitude disorganized background activity and superimposed multifocal spikes. One week after the initiation of vitamin B6 (200 mg/day) administration, her seizure attacks had ·disappeared. However, seizure attacks had appeared again with mild elevation of serum GOT and GPT 11 d ays after vitamin B6 was increased to 300 mg/ day. After the administration of clonazepam, a remarkable d ecrease in seizure frequency occurred . When the patient was 7 months of age, the seizure attacks had co mpletely disappeared . Whe n th e patient was 10 months of age, her DQ was 94 and no developmental delay was seen, with no clinical se izu res.
Key words: spasms.
Multiple neurofibromatosis, infantile
Tetsu zo Tagawa , MD , Takashi Mimaki, MD. Haruo Terada, MD , Yoshihisa Tanaka. MD, lunko Tanaka, MD. Naoyuki Ito, MD, Hyakuji Yabuu chi, MD and Morifu sa Kam io, MD Department of Pediatrics. Osaka University Medical School (TT, TM, HT. YT, fT. NI. HY). Osaka; Department of Pediatrics. Osaka Teishin Hospital (MK). Osaka Sturge-Weber sy ndrome, one of the neuro cutaneous syndromes, is clinically characterized by facia l angioma , seizure s and mental retardation. The commonest seizure type seen in this syndrome is fo cal o r h m e iconvulsions; nonconvulsive status epilepticus ha s no t prev iously been reported. In this paper a case of S turge-Weber sy ndro me associated with nonconvul siv e status epilept icus was reported. A 4-y ear-old girl was admitted to hospit al due to her confused state and left hemiparesis. Her perinatal course had been uneventful, but facial heman gio ma was noted from birth. At 2 months, she suffered from left hemic onvulsion, and thereafter she had been trea ted with anti co nvulsants. After 2% years she had no further convulsio ns and so the anticonvulsant therapy was discontinued . She was referred to our Pediatric Neuro logy Clinic at 4 years of age. A diagnosis of Sturge-Weber sy ndrome was made o n the basis of clinica l manifestations such as facial hemangioma, hemico nvulsions, buphthalmus and intrac ranial calcifications. One day prior to admission, mild co ntusions Were seen in her mandibular region and sh e vomited several times. Her parents noted that sh e was unresponsive t o stim uli and hemiparetic on the le ft side. On admission she was expressionless with open eyes and did not respond to external stimuli. Neurological examination disclosed left hemiparesis. A cranial CT scan revea led n o abnormal findings except for diffu se calcifications on the right cerebral hemisphere. Cerebral angiography showed a markedly abnormal venous drainage pattern . EEG showed continuous bilateral synchronous slow waves with multifocal sp ikes. Following i.v. injection of diazepam , the continu o us bilateral synchronous slow waves soon disappea red. Simultaneously, she regained partial consciousness and began to respond to stimuli. Anticonvulsant therapy was started on the diagnosis of nonconvulsive status epilepticus. Her impaired consciousness recovered comple tely several days later and left hemip aresis also improv ed gradu ally until she was able to walk alone again .
Key words: Sturge-Weber syndrome, nonconvulsive status epilepticus.
Brain & Development, Vol 8, No 2, 1986 145
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Neurological Manifestations and Cytophysicochemical Abnormalities in Xeroderma Pigmentosum
Locomotor Prognosis at 4 Years in Cerebral Palsy
Takashi Mimaki, MD , Naoyuki Itoh, MD, Tetsuzo Tagawa, MD, Junko Tanaka, MD, Hartlo Terada, MD, Takahiro Sugita, MD, Hyakuji Yabuu chi, MD and Kenji Satoh, MD Section of Pediatric Neurology, Departm ents of Pediatrics (TM, NI, TT, JT, HT, TS, HYj and Dermatology (KSj, Osaka University Medical School, Osaka
Xeroderm a pigmentosum is an unu sual n eurocutaneous disord er with associated neurologica l abnormalities. Recent studies have revealed that p atie nts with xeroderma pigmcnto sum can b e classified int o nine gro ups and one variant form by so matic cell hybridiz ation m ethods. In this study, we describ e 32 patien ts with group A xer oderma pigmentosum , in cluding a n atypical case, wh o were assessed as to neurolog ica l co mplications. Of these patients, 17 show ed microcephaly and 13 a short stature. Twenty-seven patients were assessed as to mental status, and 20 showed me ntal r etardation. Of 23 patients of over 7 years of age , 20 had nerve deafness and 12 showed spino-cerebellar signs such as nystagmu s, dysarthria, trem or and a tax ia; while no patients below 7 years' of age had such n euro logical complica tions_ Twenty-six patients were examined elec troencephalographically , and 11 showed abnormally s low background activit y, and 4 low vo ltage. Tw o patients showed fo cal abn orm al di scharges, one of wh om developed adversive seizu res. CT w as performed in 21 patients, of whom 15 showed abnormal findings including ventricular dilatation (n = 12), cerebral atrophy (n = 12), cerebellar atrophy (n = 2), brain stem atrophy (n = 3) and cranial b one thickening (n = 7) . T he atypical case of grou p A xe roderma pigmentosum had mu ch less se ve re skin lesions as well as neuro logica l manifestatio ns th an those of the typical group A xeroderma pigmentosum cases. Studies o n this patient revealed the twice as high l evels o f p sto ultraviole t colon y forming abilit y and host ce ll reactivati on as those in the typ ical group A patients with xeroderma pigmentosum. It is possible that these less severe cytophysicochemica l findings are resp onsible for the less severe skin lesions and neurological complications noted clinica lly .
K ey words: Xeroderma pigmentosum, neurological manifestations.
146 Brain & Development, Vol 8, No 2, 1986
Toyoko Kanda, MD, Hiroshi [<"ukase, MD, Yuriko ariko Yuge, MD Yamori, MD and M Departments of Neuropediatrics (TK, YY, MY) and Orthopedics (HF) , St Joseph Hospital for Ha ndicapped, Kyoto The found at ion of the effect of Vojta trea tm ent is th e early starting of t he tr eatment and the persisting of long tra ining. The parents have hope s to know the fu ture if t heir child ren need long trea tm en t. So we attempt ed t o kn ow the lo co motor prognosis a t 4 years of age fr om th e fir st. We studied 93 cases of ce rebral palsy who fir st visited the hospital b etw een 1978 and 198 2 ( at that tim e t he diagnosis was the risk for cerebral pa lsy or cerebral pa lsy) and have been fully train ed more than 1 year. The age when they visited th e hosp ita l first was between 1 month of age and 3 year s 7 months o f age. The ex amined items were the developm en ta l l evel of pro ne postu re or the locomotion at the fi rst visit , typ es of cerebral palsy, CT findings and the deg ree of mental retarda tion. All the items were usefu l for suspect ing the f utu re loco motion by s tatistica lly d iffer ence. And the s uspecting o f prognosis was accura te by 86.2%. So , by s uspe ct ing the lo comotor prognosis a t 4 years of age, we can support the parent s and can give them vario us services like case wo rk for the eeling f of the parent s, guid ance fo r dealing with the f amily. guidance fo r nursing the ill children , introduct ion fo r the kind ergarte n and introduction of other econo mic services.
Key words: Locomotor prognosis, cerebral palsy, Vojta method.