- Email: [email protected]
Neurologic and psychologic evaluation in familial porencephaly
cluded that a more detailed description of NP functions may help us to understand many unsolved aspects of this syndrome. 217. N E U R O L O G I C AND P S Y C H O L O G I C EVALUATION IN F A M I L I A L P O R E N C E P H A L Y A.M.S. Piovesana and S.M. Ciasca, Campinas, Brazil The purpose of this report is to correlate the location of brain lesions of early onset with neurologic and psychologic examinations in 3 sisters with cerebral palsy due to familial porencephaly. The evaluation was based on a test standardized for the Brazilian population, beyond the conventional tests: WISC, BENDER, HTP. Case 1: age 15 years, female, white. She demonstrated quadriparesis predominantly on the left side, stereognosia, and agraphesthesia. CT showed fight frontal parietal porencephalic cyst. Case 2: age 10 years, female, white. She demonstrated left hemiparesis, mental retardation, and seizures. CT showed right parietal porencephalic cyst. Case 3: age 7 years, female, white. She demonstrated quadriparesis especially on the fight side and mental retardation. All 3 cases showed attention deficit, memory and visuo-motor impairment with specific difficulties in selective and immediate memory, abstract judgement, and mental retardation which had a statistical significance with the proportionality for each age group. We found a meaningful correlation among the injured hemisphere motor deficiency and kinaesthetic sensitivity. Other clinical features could not be correlated with the tomographic findings. Thus, we observed that anatomic brain lesions in cases of early onset interfere with mental processes. 218. TRANSITORY NEUROPSYCHOLOGIC IMPAIRMENT IN IDIOPATHIC WEST SYNDROME WITH GOOD MENTAL OUTCOME F. Guzzetta, A. Crisafulli, E. Mercuri, A. Gagliano, and G. Tortorella, Messina, Italy
There is evidence that neurophysiologic mechanisms related to EEG dysfunctions can produce transitory neuropsychologic impairment (TNI). What is possible to demonstrate in older children is not easy to obtain in younger subjects at the age of West syndrome onset. Yet, West syndrome could be a typical condition in which TNI can occur. This communication will try to show, with the aid of a videotape, typical behaviors in the hypsarrhythmic state of West syndrome, that suggest the presence of TNI. This impairment seems to include basal competences like alertness, attention, and short-term memory, rather than real cognitive operatory skills. 219. A C U T E DISSEMINATED E N C E P H A L O M Y E L I T I S (ADEM): CLINICAL AND NEURORADIOLOGIC STUDY O F 16 C H I L D R E N Silvia N. Tenembaum, MD, Hugo Arroyo, MD, Liliana Czornyj, MD, Mario Massaro, MD, Vfctor Ruggieri, MD, Rita Ilari, MD, and Natalio Fejerman, MD, Buenos Aires, Argentina ADEM is a relatively uncommon disease, described following infectious processes usually viral. The diagnosis is based on the evidence of a demyelinating inflammation of the SNC and MRI appears to be the more sensitive radiologic test. Since 1988 we have identified 16 children with ADEM, ages ranged from 18 months to 15 years (median: 6.7 years). Encephalopathy was
preceded by a common infectious illness occurring during the previous 3 weeks in 87% of cases. The presenting symptoms were: focal motor deficits in 12 of 16, abnormal mental status in 10 of 16 (i.e., somnolence 7, irritability 1, coma 2), headache in 8 of 16, spinal cord involved in 7 of 16, ataxia in 6 of 16, aphasia in 7 of 16, meningismus in 5 of 16, seizures in 3 of 16, and optic neuritis in 2 of 16. The acute phase evolved over 8 to 30 days; new neurologic signs appeared 4 to 20 days after onset in 75% of cases. Routine laboratory abnormalities were not significant, and CSF were normal in 9 of 16 patients. Despite extensive laboratory evaluations, etiologic diagnosis was established in only one case: Epstein-Barr virus. EEG abnormalities (i.e., generalized or partial slowing with high-amplitude delta waves) were observed in 12 of 16 (75%). MRI showed high intensity signals in T2-weighted images, in the 12 patients studied at day 15 (median), involving white matter of cerebral hemispheres in 12 of 12, brainstem in 4 of 12 and cerebellum in 4 of 12. Lesions were few in number, asymmetric, nonhemorrhagic, and had good correlation with the clinical syndrome. Depending on the extension of MRI signals, small lesions ADEM were seen in 12 of 16 and large lesions ADEM in 4 of 16. All patients were treated with steroids. Subsequent clinical and radiologic improvement depended on early treatment and dose used, but the ADEM group with large lesions showed a more protracted course and at discharge more severe deficits than the first group. However, the final outlook of the whole group is generally good, although we did not follow untreated control patients. 220. SPASTIC PARAPARESIS AND SENSORY NEUROPATHY Silvia N. Tenembaum, MD, Ricardo C. Reisin, MD, Ana L. Taratuto, MD, and Natalio Fejerman, MD, Buenos Aires, Argentina
Introduction: Only few reports exist describing patients with spastic paraparesis and sensory neuropathy. Moreover, they mostly lack electrophysiologic and pathologic evaluation of the PNS. We report the clinical, electrodiagnostic, and pathologic findings of a child with this unusual association. Case Report: The patient is a 91/z-year-old boy, with normal motor milestones, who developed at age 3 a slowly progressive spastic gait. At age 5, he presented with recurrent distal blisters which ulcerated. He had no significant family history. On examination he showed dry and indurated skin in the palms and soles with several scars on the fingers, and a large, painless ulcer on the first right metatarsal bone. He was a mentally normal child with normal cranial nerves, and had marked spasticity in both legs with symmetric distal weakness (4/5 MRC scale), hyperactive knee, and ankle jerks with Babinski sign. Sensory examination, which was normal at age 7, showed 21/2 years later a symmetric distal loss of pain, temperature, pin prick, and light touch sensations in arms and legs. Position and vibratory senses were preserved. EMG and nerve conduction studies showed a pure axonal sensory neuropathy. A biceps muscle biopsy showed a slight increase in subsarcolemmal oxidative activity in some fibers but no ragged-red fibers. Sural nerve biopsy showed generalized reduction in the population of myelinated fibers and a unimodal distribution in a fiber-size frequency histogram, with reduction of the larger diameter myelinated fibers peak. No evidence of active axonal degeneration or regenerative axonic
PEDIATR/C NEUROLOGY Vol. 8 No. 5 399
There is evidence that neurophysiologic mechanisms related to EEG dysfunctions can produce transitory neuropsychologic impairment (TNI). What is possible to demonstrate in older children is not easy to obtain in younger subjects at the age of West syndrome onset. Yet, West syndrome could be a typical condition in which TNI can occur. This communication will try to show, with the aid of a videotape, typical behaviors in the hypsarrhythmic state of West syndrome, that suggest the presence of TNI. This impairment seems to include basal competences like alertness, attention, and short-term memory, rather than real cognitive operatory skills. 219. A C U T E DISSEMINATED E N C E P H A L O M Y E L I T I S (ADEM): CLINICAL AND NEURORADIOLOGIC STUDY O F 16 C H I L D R E N Silvia N. Tenembaum, MD, Hugo Arroyo, MD, Liliana Czornyj, MD, Mario Massaro, MD, Vfctor Ruggieri, MD, Rita Ilari, MD, and Natalio Fejerman, MD, Buenos Aires, Argentina ADEM is a relatively uncommon disease, described following infectious processes usually viral. The diagnosis is based on the evidence of a demyelinating inflammation of the SNC and MRI appears to be the more sensitive radiologic test. Since 1988 we have identified 16 children with ADEM, ages ranged from 18 months to 15 years (median: 6.7 years). Encephalopathy was
preceded by a common infectious illness occurring during the previous 3 weeks in 87% of cases. The presenting symptoms were: focal motor deficits in 12 of 16, abnormal mental status in 10 of 16 (i.e., somnolence 7, irritability 1, coma 2), headache in 8 of 16, spinal cord involved in 7 of 16, ataxia in 6 of 16, aphasia in 7 of 16, meningismus in 5 of 16, seizures in 3 of 16, and optic neuritis in 2 of 16. The acute phase evolved over 8 to 30 days; new neurologic signs appeared 4 to 20 days after onset in 75% of cases. Routine laboratory abnormalities were not significant, and CSF were normal in 9 of 16 patients. Despite extensive laboratory evaluations, etiologic diagnosis was established in only one case: Epstein-Barr virus. EEG abnormalities (i.e., generalized or partial slowing with high-amplitude delta waves) were observed in 12 of 16 (75%). MRI showed high intensity signals in T2-weighted images, in the 12 patients studied at day 15 (median), involving white matter of cerebral hemispheres in 12 of 12, brainstem in 4 of 12 and cerebellum in 4 of 12. Lesions were few in number, asymmetric, nonhemorrhagic, and had good correlation with the clinical syndrome. Depending on the extension of MRI signals, small lesions ADEM were seen in 12 of 16 and large lesions ADEM in 4 of 16. All patients were treated with steroids. Subsequent clinical and radiologic improvement depended on early treatment and dose used, but the ADEM group with large lesions showed a more protracted course and at discharge more severe deficits than the first group. However, the final outlook of the whole group is generally good, although we did not follow untreated control patients. 220. SPASTIC PARAPARESIS AND SENSORY NEUROPATHY Silvia N. Tenembaum, MD, Ricardo C. Reisin, MD, Ana L. Taratuto, MD, and Natalio Fejerman, MD, Buenos Aires, Argentina
Introduction: Only few reports exist describing patients with spastic paraparesis and sensory neuropathy. Moreover, they mostly lack electrophysiologic and pathologic evaluation of the PNS. We report the clinical, electrodiagnostic, and pathologic findings of a child with this unusual association. Case Report: The patient is a 91/z-year-old boy, with normal motor milestones, who developed at age 3 a slowly progressive spastic gait. At age 5, he presented with recurrent distal blisters which ulcerated. He had no significant family history. On examination he showed dry and indurated skin in the palms and soles with several scars on the fingers, and a large, painless ulcer on the first right metatarsal bone. He was a mentally normal child with normal cranial nerves, and had marked spasticity in both legs with symmetric distal weakness (4/5 MRC scale), hyperactive knee, and ankle jerks with Babinski sign. Sensory examination, which was normal at age 7, showed 21/2 years later a symmetric distal loss of pain, temperature, pin prick, and light touch sensations in arms and legs. Position and vibratory senses were preserved. EMG and nerve conduction studies showed a pure axonal sensory neuropathy. A biceps muscle biopsy showed a slight increase in subsarcolemmal oxidative activity in some fibers but no ragged-red fibers. Sural nerve biopsy showed generalized reduction in the population of myelinated fibers and a unimodal distribution in a fiber-size frequency histogram, with reduction of the larger diameter myelinated fibers peak. No evidence of active axonal degeneration or regenerative axonic
PEDIATR/C NEUROLOGY Vol. 8 No. 5 399