Progressively intractable seizures, focal alopecia, and hemimegalencephaly

We report a 3-year-old boy with the neurocutaneous combination of unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures. He was born with an asymmetric hair pattern consisting of absent patches of hair, a small left eyebrow, and less eyelashes on the left eye; he had normal development until age 17 months, when he experienced right focal seizures with fever. Two months later, fever triggered new seizures characterized by flurries of head and body flexion and adduction of the right arm. He had left hand preference and language regression. EEG manifested left hemihypsarrhythmia, and MRI showed left hemimegalencephaly with marked enlargement of the temporal lobe with ventriculomegaly. Seizures were refractory to treatment with phenobarbital, adrenocorticotropic hormone, pyridoxine, sodium valproate, clonazepam, carbamazepine, phenytoin, and felbamate. This may represent a previously undescribed neurocutaneous syndrome.