Clinical Findings of Menkes Disease and the Treatment of Epilepsy / 대한소아신경학회지

ABSTRACT

Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair, hypotonia, and generalized myoclonic seizures. Here, we report a case of Menkes disease in which the patient presented with progressive hypotonia and intractable seizures. A 4-month-old male infant visited our pediatric clinic for focal seizures with blinking eyes. He was generally hypotonic and suffered from malnutrition. The focal seizures became more frequent, and the patient became intractable to anti-seizure medications. An electroencephalogram (EEG) indicated diffuse cerebral dysfunction with focal seizure, and a brain magnetic resonance imaging (MRI) showed tortuous and ectatic intracranial arteries, as well as several ischemic lesions. A genetic analysis was performed, and a c.2473_2474del (p.Leu825fsX1) of the ATP7A gene was detected.