Megalencephalic leukodystrophy in an Asian Indian ethnic group

  • Singhal B
  • Gursahani R
  • Udani V
 et al. 
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Abstract

Over a 10-year period, we reviewed 30 patients with leukodystrophy, megalencephaly, and a relatively benign course. Most of these patients (26) belonged to a distinctive ethnic group called the Agrawals. Head circumference exceeded the 95th percentile in 28 patients; 22 patients had seizures; 22 had pyramidal signs (16 more pronounced and 6 mild); and 16 had cerebellar ataxia. The median age of onset of symptoms was 1.8 years. Interictal electroencephalogram (EEG) was abnormal in 21 of 23 patients. The inheritance is possibly autosomal recessive.

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