Progressively Intractable Seizures, Focal Alopecia, and Hemimegalencephaly

    May 1994 in “ Neurology ”
    R. Pelayo, Eugene Barasch, Hee-Taik Kang, Russell B. Marion, Solomon L. Moshé
    TLDR The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
    In 1994, a case study was reported on a 3-year-old boy who presented with a unique combination of unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures. The boy was born with an asymmetric hair pattern and had normal development until 17 months of age, when he began experiencing right focal seizures with fever. His seizures, characterized by flurries of head and body flexion and adduction of the right arm, were triggered by fever and were resistant to multiple treatments including phenobarbital, adrenocorticotropic hormone, pyridoxine, sodium valproate, clonazepam, carbamazepine, phenytoin, and felbamate. EEG showed left hemihypsarrhythmia, and MRI revealed left hemimegalencephaly with significant enlargement of the temporal lobe with ventriculomegaly. This case may represent a previously undescribed neurocutaneous syndrome.
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