Zonisamide was tried on 44 children, 18 girls and 26 boys, from 8 months to 15 years of age at the start of the trial. In 6 children the drug has been stopped because of side effects. The drug was introduced at a dose of 2-4 mg/kg/day and increased to 12 mg/kg/day unless a satisfactory response occurred at a Power dose. A 1OOyo control of seizures was achieved in 5 of 5 cases of idiopathic generalized epilepsies, in 7 of 8 cases of symptomatic generalized epilepsies, in one of one case of idiopathic partial epilepsies, and in 17 of 24 cases of symptomatic partial epilepsies. The main side effect was drowsiness, especially during the introduction.

A new combination therapy, high-dose pyridoxal phosphate (40 to 50 mg/kg daily) and low-dose corticotropin (0.01 mg [0.4 IU]/kg daily), was tried in 28 children with infantile spasms. Monotherapy with pyridoxal phosphate provided excellent seizure control in three (11%) of the 28 subjects. Corticotropin was subsequently added to the regimen of the remaining 25 patients. At 1 month after discontinuing corticotropin, 21 (84%) of the 25 patients experienced no seizures, and 22 (88%) of the 25 showed improvement in their electroencephalographic findings. The mean interval until achievement of seizure control was 4.1 days after the initiation of corticotropin. The outcome in the 21 patients has been followed for a mean period of 34.9 months (range, 2 to 81 months). Of these 21 patients, six (29%) have had relapses of infantile spasms, and 10 (48%) have experienced normal development. Transient increases in liver enzymes occurred in 14 (50%) of the 28 patients, but none of the patients developed more serious side effects. The investigators conclude that combination therapy with high-dose pyridoxal phosphate and low-dose corticotropin is a promising new therapy.

We report here the first case of an L1CAM gene mutation identified in mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome in Japan. The patient was a 10-year-old boy with mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. His family had no history of MASA syndrome. The L1CAM gene contained a nonsense mutation (R1166X) in exon 26 in the cytoplasmic domain. No mutation was found in the extracellular and transmembrane domains of L1CAM. The abnormal development of axon tracts resulting in the corpus callosum hypoplasia and adducted thumbs appears to be caused by malfunction of the cytoplasmic domain of L1CAM.

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