Publication:

Unraveling Menkes kinky hair disease: a rare but telltale disorder in infancy

Menkes kinky hair disease also known as “trichopoliodystrophy” resulting from a mutation in the ATP7A gene, which disrupts copper distribution across various tissues. Herein this report presents a case of a 4-month-old boy who presented with unprovoked seizures in status and developmental delay. He was evaluated for refractory seizures and developmental delay, and his serum copper and serum ceruloplasmin levels were found to be low and was later genetically diagnosed as Menkes kinky hair disease. Despite copper histidine therapy and multiple antiepileptics, seizures persisted until initiation of adjunctive cannabinoid therapy, after which the child became seizure-free. This case underscores the diagnostic and therapeutic challenges of Menkes disease and highlights the potential role of cannabinoids in seizure management.