Postictal hemiatrophy: Hemiconvulsion-hemiplegia-epilepsy syndrome

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  • ployed. Early consideration of complete callosotomy in children with medically refractory seizures is recommended.

    120. GENETIC STUDIES ON HEREDITARY PRO- GRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION Masaya Segawa, Yoshiko Nomura, Haj ime Tanaka, Kohtaro Endo, and Shoji Tsuji, Tokyo and Niigata, Japan

    Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a postural dystonia with onset in childhood character- ized by marked diurnal fluctuation, which markedly responds to levodopa without any adverse effects. The mode of inheritance of HPD is assumed to be an autosomal dominant one with sex- related low penetrance. As for the pathogenesis, decrease of tyrosine hydroxylase (TH) at the terminal of the nigrostriatal dopamine neuron is suspected, but linkage analyses using poly- morphism of the TH gene and adjacent markers failed to show any linkage. Recently, the gene for HPD was mapped to chro- mosome 14q at the same locus shown for strictly defined dopa- responsive dystonia (DRD). A maximal lod score of 2.681 was obtained with D14S52 at a recombination fraction of 0.0 without any recombination events with flanking chromosome 14q mark- ers in affected individuals. The results strongly suggest that HPD and strictly defined DRD are most likely to be caused by muta- tions in the gene on the long arm of chromosome 14q. In studies of cerebrospinal fluid, HPD was revealed to have a decrease in levels of both biopterin and neopterin which suggests abnormal- ities in GTP cyclohydrolase I as the pathogenesis of HPD.

    121. POSTICTAL HEMIATROPHY: HEMICONVUL- SION-HEMIPLEGIA-EPILEPSY SYNDROME Mustafah Am. Salih, Mohammad M. Kabiraj, Ahmed I. A1- Jarallah, and Vijay A. Palkar, Riyadh, Saudi Arabia

    Four children (2 females, 2 males) who developed cerebral hemi- atrophy and hemiplegia/hemiparesis following prolonged epilep- tic seizures are described. The duration of seizures ranged 30 min to 12 hours and occurred at ages 1-3 years. They consisted of hemiconvulsions in 3 children (left-sided in 2 and right-sided in 1) which was followed by ipsilateral hemiplegia. The fourth child had a generalized tonic-clonic seizure with deviation of the face to the right side followed by left-sided hemiparesis. Resid- ual sequelae were minimal in 3 patients, whereas the fourth (who sustained a 12-hour seizure) had choreiform movements, con- tracture deformities, and severe mental retardation. Subsequent seizures (i.e., focal and generalized tonic-clonic) remained in 3 patients and were controlled with phenobarbitone and carba- mazepine. Cerebral hemiatrophy was documented in all patients by computed tomography and/or magnetic resonance imaging. EEG revealed ipsilateral slowing of background activity (delta and theta waves) associated in 2 patients with low-voltage spike- and-slow-wave discharges involving the atrophic hemisphere. Until now, the syndrome has not been reported from the Middle East.

    122. SINGLE, SMALL CT LESIONS IN CHILDREN WITH SEIZURES Maria Luiza G. Manreza, Ad61ia M.M. Henriques Souza, Um- bertina C. Reed, and Aron J. Diament, Silo Paulo, Brazil

    The literature about epileptic children describes single, small, enhancing CT lesions (SSECTL) with or without perifocal edema. We report 18 children (7 males, 11 females), ages 1-14 years, with seizures that had SSECTL. In most patients (89%), the duration of illness was less than 6 months. Seizures were always partial: simple partial in 16 and complex partial in 2. EEG was performed in 17 children and was normal in 15, dem- onstrated focal epileptic discharges in 1, and focal slow waves in 1. All children had CSF examinations which were normal in 14 and revealed positive immunologic tests for cysticercus antibod- ies in 2, pleocytosis in 1, and increased gammaglobulin level in 1. CT demonstrated SSECTL nearly all in the parietal lobe (78%). SSECTL had spontaneous resolution in 16 patients. In 2 children SSECTL did not disappear after follow-up periods of 30 days and 1 year. All children were treated only with antiepileptic drugs and are seizure-free and without sequelae. SSECTL have been reported in association with many etiologies. In our patients the diagnosis of neurocysticercosis was considered by the high incidence of this disease in our country, by the spontaneous resolution of the lesions, and by the benign course without spe- cific therapy.

    123. BRAIN STEM GLIOMAS P. Breinnis, S. Rosemberg, E. Arita, S. Kliemann, and L.C. Amaral, Silo Paulo, Brazil

    We studied 14 males and 15 females, ages 2-10 years (mean, 6 years) with brainstem gliomas. The period between onset of symptoms to diagnosis was less than 2 months in 15 and less than 6 months in 21. The most common clinical presentations were difficulty walking (12 patients), cranial nerve deficits (9 pa- tients), and behavior difficulties (5 patients). Intracranial hyper- tension was the initial symptom in only 4 patients. All patients had pyramidal signs (i.e., hyperreflexia, Babinski sign), and cranial nerve deficits. Cerebellar ataxia was detected in 24 pa- tients. Cranial nerve palsies by order of decreasing frequency were as follows: facial and abducens (19 patients), cranial nerves IX and X (15 patients), and cranial nerve VIII (8 patients). CT and/or MRI performed in 23 patients (pneumoencephalography and angiography were done in 5) revealed intrinsic tumors of the pons in all patients. In 9, the lesions were highly hypodense nonenhancing, whereas in the remaining they were either hypo- or isodense with some kind of contrast enhancement (i.e., mot- tled diffuse or ring-shaped). Hydrocephalus was detected in 9 patients. Radiation therapy was performed in 21. Eighteen pa- tients died within 2 years of onset, and 1 died in the fourth year. All 3 surviving patients are in the second year of the disease and 6 patients were lost to follow-up. The interval between onset and diagnosis, neurologic and radiologic findings did not seem to be associated with survival times in intrinsic nonexophytic brain- stem tumors.

    124. OPTIC GLIOMA MASQUERADING AS SPASMUS NUTANS: GOOD RESPONSE TO CHEMOTHERAPY S. Rosemberg, S. Kliemann, E.N. Arita, and P. Bruniera, Sao Paulo, Brazil

    Spasmus nutans is generally considered a benign, self-limited condition. However, a few reports have called attention to the

    116 PEDIATRIC NEUROLOGY Vol. 11 No. 2