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Progressive ataxia and isolated vitamin E deficiency
intercurrent infectious disease. The patient with the CN type exhibited slight muscle weakness at age 12. 217. C O N G E N I T A L M U S C U L A R D Y S T R O P H Y IN TWO SIBLINGS W I T H CATARACTS AND SLIGHT CEREBRAL INVOLVEMENT Umbertina C. Reed, Suely K.N. Marie, Ana M.C.B. Tsanaclis, Mary S. Carvalho, Jayme Roizenblatt, Christiane C. Pedreira, Aron Diament, and Jos6 A. Levy, Silo Paulo, Brazil Congenital muscular dystrophy (CMD), a generally autosomalrecessive disease, corresponds to a heterogeneous group of infants with variable degree of severity, muscle biopsy of dystrophic type, and an inconsistent association with ocular and/or CNS anomalies. We report 2 siblings, now ages 12 and 10 years, followed since 1983, with CMD and ocular and CNS involvement. Their clinical manifestations differ from most known muscle-eye-brain syndromes, which generally comprise severe ocular and cerebral anomalies, by presenting only with cataracts, ectopic optic nerve in one of them, and slight mental deficiency. CT was normal in both children, and cranial MRI performed only in the younger child was also normal. The description of these 2 siblings emphasizes very well the clinical heterogeneity of CMD, and the difficulty in establishing an adequate clinical classification in accordance with the current literature. 218. CONGENITAL MUSCULAR DYSTROPHY: CLINICAL AND PATHOLOGIC REVIEW OF 24 PATIENTS Umbertina C. Reed, Suely K.N. Marie, Alzira A.S. Carvalho, Maria Luiza G. Manreza, Paulo Salum, Aron Diament, and Jos6 A. Levy, Silo Paulo, Brazil
Congenital muscular dystrophy (CMD) was described at the beginning of the century, but even today there is some controversy as to classification. The clinical picture is variable, including myopathic aspects, delayed motor milestones, ocular anomalies, defects in maturation of the CNS, and white matter alterations. A classification emphasizing clinical findings permits us to divide CMD into the "pure" form with only muscular involvement; Fukuyama type; cerebro-ocular dysplasia-muscular dystrophy syndrome ("muscle-eye-brain"); CMD with normal or subnormal intelligence and hypodensity of cerebral white matter ( " F u k u y a m a - l i k e " ) , and some miscellaneous not wellcharacterized forms. Inclusion of other subtypes: atonic sclerotic, rigid spine, and "stick-man" is somewhat controversial. We reviewed 24 children, ages 2 months to 17 years at the time of the first examination, with early-onset hypotonia, muscular weakness, and dystrophic changes on muscle biopsy. The clinical manifestations and results of EMG, CK enzyme level, CNS neuroimaging studies, ophthalmologic and psychologic evaluations permitted us to subdivide our patients into 8 "pure," 4 "stick-man," 7 "Fukuyama-like," 2 "muscle-eye-brain," and 2 miscellaneous forms. The functional capacity evaluated during the last 14 years was good in the "stick-man" form, good or moderate in the "pure" form, and poor in "Fukuyama-like," "muscle-eye-brain," and miscellaneous forms. 219. PROGRESSIVE ATAXIA AND ISOLATED VITAMIN E DEFICIENCY P. Sabouraud, N. Bednarek, B. Digeon, and J. Motte, Reims, France
Progressive ataxia has numerous causes and for most of these, there is no effective therapy. In 1981, a clinical phenotype identical to Friedreich ataxia was associated with a deficit in vitamin E without fat malabsorption. The condition is rare but replacement therapy must be given. We report an 11-year-old girl presenting with mild, progressive ataxia. She had normal psychomotor development until 2 years of age when she began to have frequent falls and difficulty with both walking and running. At age 11 there was some gait ataxia with absent deep tendon reflexes and flat feet. There were no cognitive dysfunction, scoliosis, ophthalmic, or cardiac involvement. Serum vitamin E was low at 0.5 mg/L (normal range: 7-15 mg/L). Fat malabsorption tests were negative. An oral load of 4 gm of alphatocopheryl acetate showed a small rise in serum vitamin E levels. Daily oral vitamin E for 7 days permitted normalization of the blood level. Replacement therapy continues on a dally basis. There was no family history of ataxia but two of the four children had low vitamin E levels without clinical signs (3.2 and 4.5 mg/L). This patient with isolated vitamin E deficiency and progressive ataxia emphasizes the need to measure blood vitamin E levels in all early onset progressive ataxia. Replacement therapy may stabilize the clinical symptoms if introduced early.
220. EPILEPTIC SPASMS AFTER ONE YEAR OF AGE N. Bednarek, J. Motte, C. Soufflet, P. Sabouraud, and O. Dulac, Reims and Paris, France
Occurrence of epileptic spasms after the first year of life is rare. We studied retrospectively 18 patients selected from the spasms population followed in the last 20 years in Paris and in Reims. Seizures were recorded in 16 and observed in 2 by a neuropediatrician. Spasms were cryptogenic in 9 patients and symptomatic in the others. Neuropsychologic regression appeared at a mean of 6 months before first spasms. Insidious hypsarrhythmia may coincide with cognitive impairment. Paroxysmal anomalies on EEG prevailed in frontal areas in 13 patients (70%). Twothirds of patients in this series presented with behavioral impairment. Steroids were effective at controlling spasms in half of the 12 treated patients. Few children had good outcomes: 2 of 18, for both seizures and cognition, but mental troubles were supposed to have resulted in part from delay in diagnosis and treatment. The epileptic spasms beginning after the first year of life do not consist of an early Lennox-Gastaut syndrome. They need to be included in the same group as infantile spasms for etiologic, prognostic, and therapeutic purposes.
221. INTRAVENOUS IMMUNOGLOBULIN, PROTEIN S DEFICIENCY AND CEREBRAL INFARCTION Augusto Morales and Subhash Chaudhary, Springfield, Illinois Cerebral infarction and other thrombotic events are possible complications of intravenous immunoglobulin (IVIG) use in adults [1,2]. We report a 4-year-old boy who developed a stroke after receiving IVIG for presumptive diagnosis of Kawasaki disease. The child initially presented with chicken pox, complicated by persistent fever, oral changes, and an erythematous desquamating skin rash. He received a single dose of IVIG over 4 hours (400 mg/kg). Within 8 hours he developed right hemiplegia and aphasia. Cranial MRI demonstrated a left striato-capsular infarc-
PEDIATRIC NEUROLOGY Vol. 11 No. 2 141
Congenital muscular dystrophy (CMD) was described at the beginning of the century, but even today there is some controversy as to classification. The clinical picture is variable, including myopathic aspects, delayed motor milestones, ocular anomalies, defects in maturation of the CNS, and white matter alterations. A classification emphasizing clinical findings permits us to divide CMD into the "pure" form with only muscular involvement; Fukuyama type; cerebro-ocular dysplasia-muscular dystrophy syndrome ("muscle-eye-brain"); CMD with normal or subnormal intelligence and hypodensity of cerebral white matter ( " F u k u y a m a - l i k e " ) , and some miscellaneous not wellcharacterized forms. Inclusion of other subtypes: atonic sclerotic, rigid spine, and "stick-man" is somewhat controversial. We reviewed 24 children, ages 2 months to 17 years at the time of the first examination, with early-onset hypotonia, muscular weakness, and dystrophic changes on muscle biopsy. The clinical manifestations and results of EMG, CK enzyme level, CNS neuroimaging studies, ophthalmologic and psychologic evaluations permitted us to subdivide our patients into 8 "pure," 4 "stick-man," 7 "Fukuyama-like," 2 "muscle-eye-brain," and 2 miscellaneous forms. The functional capacity evaluated during the last 14 years was good in the "stick-man" form, good or moderate in the "pure" form, and poor in "Fukuyama-like," "muscle-eye-brain," and miscellaneous forms. 219. PROGRESSIVE ATAXIA AND ISOLATED VITAMIN E DEFICIENCY P. Sabouraud, N. Bednarek, B. Digeon, and J. Motte, Reims, France
Progressive ataxia has numerous causes and for most of these, there is no effective therapy. In 1981, a clinical phenotype identical to Friedreich ataxia was associated with a deficit in vitamin E without fat malabsorption. The condition is rare but replacement therapy must be given. We report an 11-year-old girl presenting with mild, progressive ataxia. She had normal psychomotor development until 2 years of age when she began to have frequent falls and difficulty with both walking and running. At age 11 there was some gait ataxia with absent deep tendon reflexes and flat feet. There were no cognitive dysfunction, scoliosis, ophthalmic, or cardiac involvement. Serum vitamin E was low at 0.5 mg/L (normal range: 7-15 mg/L). Fat malabsorption tests were negative. An oral load of 4 gm of alphatocopheryl acetate showed a small rise in serum vitamin E levels. Daily oral vitamin E for 7 days permitted normalization of the blood level. Replacement therapy continues on a dally basis. There was no family history of ataxia but two of the four children had low vitamin E levels without clinical signs (3.2 and 4.5 mg/L). This patient with isolated vitamin E deficiency and progressive ataxia emphasizes the need to measure blood vitamin E levels in all early onset progressive ataxia. Replacement therapy may stabilize the clinical symptoms if introduced early.
220. EPILEPTIC SPASMS AFTER ONE YEAR OF AGE N. Bednarek, J. Motte, C. Soufflet, P. Sabouraud, and O. Dulac, Reims and Paris, France
Occurrence of epileptic spasms after the first year of life is rare. We studied retrospectively 18 patients selected from the spasms population followed in the last 20 years in Paris and in Reims. Seizures were recorded in 16 and observed in 2 by a neuropediatrician. Spasms were cryptogenic in 9 patients and symptomatic in the others. Neuropsychologic regression appeared at a mean of 6 months before first spasms. Insidious hypsarrhythmia may coincide with cognitive impairment. Paroxysmal anomalies on EEG prevailed in frontal areas in 13 patients (70%). Twothirds of patients in this series presented with behavioral impairment. Steroids were effective at controlling spasms in half of the 12 treated patients. Few children had good outcomes: 2 of 18, for both seizures and cognition, but mental troubles were supposed to have resulted in part from delay in diagnosis and treatment. The epileptic spasms beginning after the first year of life do not consist of an early Lennox-Gastaut syndrome. They need to be included in the same group as infantile spasms for etiologic, prognostic, and therapeutic purposes.
221. INTRAVENOUS IMMUNOGLOBULIN, PROTEIN S DEFICIENCY AND CEREBRAL INFARCTION Augusto Morales and Subhash Chaudhary, Springfield, Illinois Cerebral infarction and other thrombotic events are possible complications of intravenous immunoglobulin (IVIG) use in adults [1,2]. We report a 4-year-old boy who developed a stroke after receiving IVIG for presumptive diagnosis of Kawasaki disease. The child initially presented with chicken pox, complicated by persistent fever, oral changes, and an erythematous desquamating skin rash. He received a single dose of IVIG over 4 hours (400 mg/kg). Within 8 hours he developed right hemiplegia and aphasia. Cranial MRI demonstrated a left striato-capsular infarc-
PEDIATRIC NEUROLOGY Vol. 11 No. 2 141