PROGRESSIVELY INTRACTABLE SEIZURES, FOCAL ALOPECIA, AND HEMIMEGALENCEPHALY

We report a 3-year-old boy with the neurocutaneous combination of unil ateral alopecia, ipsilateral hemimegalencephaly and intractable seizur es. He was born with an asymmetric hair pattern consisting of absent p atches of hair, a small left eyebrow, and less eyelashes on the left e ye; he had normal development until age 17 months, when he experienced right focal seizures with fever. Two months later, fever triggered ne w seizures characterized by flurries of head and body flexion and addu ction of the right arm. He had left hand preference and language regre ssion. EEG manifested left hemihypsarrhythmia, and MRI showed left hem imegalencephaly with marked enlargement of the temporal lobe with vent riculomegaly. Seizures were refractory to treatment with phenobarbital , adrenocorticotropic hormone, pyridoxine, sodium valproate, clonazepa m, carbamazepine, phenytoin, and felbamate. This may represent a previ ously undescribed neurocutaneous syndrome.