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 MUSCULAR DYSTROPHY IN TWO SIBLINGS WITH CATARACTS AND SLIGHT CE- REBRAL INVOLVEMENT Umbertina C. Reed, Suely K.N. Marie, Ana M.C.B. Tsana- clis, Mary S. Carvalho, Jayme Roizenblatt, Christiane C. Pe- dreira, Aron Diament, and Jos6 A. Levy, Silo Paulo, Brazil

Congenital muscular dystrophy (CMD), a generally autosomal- recessive disease, corresponds to a heterogeneous group of in- fants with variable degree of severity, muscle biopsy of dystro- phic 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 involve- ment. Their clinical manifestations differ from most known mus- cle-eye-brain syndromes, which generally comprise severe ocu- lar 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: CLIN- ICAL 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 Jo- s6 A. Levy, Silo Paulo, Brazil

Congenital muscular dystrophy (CMD) was described at the be- ginning 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 subnor- mal intelligence and hypodensity of cerebral white matter ( "Fukuyama- l i ke" ) , and some miscellaneous not well- characterized forms. Inclusion of other subtypes: atonic scle- rotic, 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 clin- ical manifestations and results of EMG, CK enzyme level, CNS neuroimaging studies, ophthalmologic and psychologic evalua- tions 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 VITA- MIN 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 iden- tical to Friedreich ataxia was associated with a deficit in vitamin E without fat malabsorption. The condition is rare but replace- ment therapy must be given. We report an 11-year-old girl pre- senting with mild, progressive ataxia. She had normal psycho- motor 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 re- flexes and flat feet. There were no cognitive dysfunction, scoli- osis, 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 stabi- lize the clinical symptoms if introduced early.

220. EPILEPTIC SPASMS AFTER ONE YEAR OF AGE N. Bednarek, J. Motte, C. Soufflet, P. Sabouraud, and O. Du- lac, 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 neurope- diatrician. Spasms were cryptogenic in 9 patients and symptom- atic 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%). Two- thirds of patients in this series presented with behavioral impair- ment. 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 dis- ease. The child initially presented with chicken pox, complicated by persistent fever, oral changes, and an erythematous desqua- mating 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

tion. The cerebral angiogram was normal. Workup for a hyper- coagulable state indicated persistently low levels (over 1 year) of protein S free antigen ranging from 23-50% (normal: 70-150%) and protein S activity of only 54% (normal: 77-153%). A 14- year-old sister also has a low level of protein S free antigen of 46% (normal: 55-115%). We conclude that although this child was at risk for stroke from chicken pox or from protein S defi- ciency alone, the temporal relationship between IVIG infusion and stroke is suggestive that IVIG may have negatively influ- enced outcome. Nonimmune (increased blood viscosity) and im- mune (passively transferred IVIG anti protein S antibodies that affect an already low protein S) mechanisms are possible. Cau- tious use of IVIG in pediatric patients who are at risk for stroke is advised. Prospective studies on the effects of IVIG on protein S are needed. References: [1] Dalakas MC. High-dose intrave- nous immunoglobulin and serum viscosity: Risk of precipitating thromboembolic events. Neurology 1994;44:223-6. [2] Silbert PL, Knezevic WV, Bridge DT. Cerebral infarction complicating intravenous immunoglobulin therapy for polyneuritis cranialis. Neurology 1992;42:257-8.

222. NONRADIOACTIVE DNA DIAGNOSIS OF FRAG- ILE X SYNDROME IN JAPANESE MENTALLY RE- TARDED MALES Eiji Nanba, Yoshiyasu Kono, Atue Matuda, Mitue Yano, Tika- ko Sato, and Kenzo Takeshita, Yonago and Kitakyusyu City, Japan

We developed a screening method for FMR1 gene abnormality using nonradioisotope PCR and Southern hybridization method. PCR was carried out using biotin-labeled primer and the digox- igenin-labeled probe was used for Southern hybridization. We used alkaline phophatase and chemiluminesence for detection of biotin or digoxigenin. A band by the PCR around 300 bp was detected from normal males, but the band was not detected from the male fragile X patients diagnosed by the cytogenetic method. Increasing numbers of CGG were detected by Southern hybrid- ization from male and female patients. The PCR method was used for 256 males with mental retardation and 4 abnormal sam- ples were detected. Finally, 2 samples had confirmed CGG ab- normality by Southern hybridization. The prevalence of FMR1 gene abnormality from male patients with mental retardation was less than 0.8% which is relatively lower than other reports from the United States and Europe. The prevalence of FMR1 gene abnormality in Japanese people is suggested to be lower than in other countries.

223. QUANTITATIVE AND QUALITATIVE ABNOR- MALITIES OF PERIPHERAL T CELLS IN NEURO- LOGIC DISORDERS Toshiyuki Yamamoto, Toshiro Hara, Eiji Nanba, Noriko Su- zuki, Masahiko Kimura, Kunio Yoshino, and Kenzo Takeshita, Yonago and Tottori, Japan

Disorders involving both nervous and immune systems have been recognized. Such disorders as ataxia telangiectasia and Di- George syndrome show peripheral 3' ~ T cell expansion. In our study, the proportions and variable regions used by peripheral 3'

T cells were investigated in 205 patients with various neuro- logic disorders. Flow cytometric analysis was performed with monoclonal antibodies for C ~, V ~ 1, V ~ 2, V ~ 1-J 8 1/J 3 2, and V 3' II (9) epitopes. Further analysis was carried out with RT-PCR using variable region-specific primers. Of 205 patients, 3' 8 T cell-expansion over 15% was observed in 15 patients. Of these 15, 13 had V ~ 2/V 3' II-dominant expansion and 2 had V ~ 1-dominant expansion. Only 4 of 15 had occasional episodes of infection. Of the 15, a 2-year-old patient with ataxia, no susceptibility to infections, and normal immunoglobulin levels was tentatively diagnosed to have ataxia telangiectasia. Ten of the remaining 14 were associated with mental retardation and di- or tetraplegia. 3' ~ T cell expansion may indicate occult immu- nologic disorders associated with neurologic diseases.

224. GRADING IN SHAKEN BABY SYNDROME Ching-Shiang Chi, Pi-Hsien Li, Wen Jye Shian, D e r Yang Chou, and Wu-Chung Shen, Taichung, Taiwan

Shaken baby syndrome has an extraordinarily high incidence of morbidity and mortality. Long-term neurologic consequences are poor. But it is frequently underdiagnosed or inadequately treated. Thus, it is necessary to have a grading system for keep- ing physicians vigilant and aggressive in management to reduce neurologic sequalae. Between July, 1989 to June, 1993, 17 pa- tients with shaken baby syndrome were diagnosed. Among them, 11 were males, 6 were females; the mean age was 8 months old, ranging from 2 months to 2 years, 10 months. The diagnosis of shaken baby syndrome was made if the following 3 conditions were met: (1) The infant has signs of brain injuries, such as subdural or subarachnoid hemorrhages or cerebral edema; (2) Retinal hemorrhages; and (3) The brain injuries are consistent with shaken baby syndrome and not another obvious cause. All patients had at least 2 cranial CT and/or MRI scans. The grading of brain insults was mainly based on cranial CT scans in acute stage and cranial CT and/or MRI in the recovery stage because of the limitations of the Glasgow Coma Scale Score in the young child and not wide acceptance of the Child Coma Scale. Cranial CT/MRI were classified into phase 0-IV: phase 0 showed false-negative results occurring within days after shaken; phase I showed mild subarachnoid or parafalcine sub- dural hemorrhage occurring 24 hours after impairment of con- sciousness (IOC); phase II demonstrated generalized or hemi- spheric hemorrhage with/without opposite frontal brain edema occurring at 48-72 hours after IOC; phase III revealed progres- sive subdural hematoma associated with brain atrophy occurring at 72 hours to 3 weeks after IOC; and phase IV showed subdural hematoma with methemoglobin, brain atrophy, encephalomala- cia, and encephaloclastic porencephaly occurring beyond 3 weeks after IOC. All patients were regularly followed up at clinic for neurologic conditions except for fatal cases. All pa- tients were at or beyond phase I at first visit to our hospital. Among them, 3 were phase I, 6 phase II, 4 phase III, and 4 phase IV. Twelve of 17 cases evolved to phase IV in follow-up brain MRI scans, 3 evolved to phase III, 2 died during phase II and phase III. Clinically, all patients developed mild to severe psy- chomotor retardation; 4 had cortical blindness. Neurologic out- come of shaken baby syndrome was poor, which is consistent with brain imaging studies. We believe that grading the shaken infant may help the physician not only to be extremely vigilant but to consider early proper and aggressive therapeutic interven- tion.

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