Insights into Menkes Disease: A Case report on Rare X-Linked Copper Metabolism Disorder Linked to ATP7A Mutation

Menkes’ disease (MD) is a X-linked recessive degenerative disorder, involving mutations of ATP7A gene, characterized by impaired copper transport at the intracellular level contributes to nervous system dysfunction. Clinical manifestations include brittle kinky hair, growth retardation, seizures and typical cherubic facial appearance. Here, we present a case of 1-year-old male with complaints of fever, excessive irritability, seizures like activity in form of up rolling of eyes and associated with postictal drowsiness passage of urine or frothing. MRI revealed brain abnormalities and final diagnosis with Menkes disease via genetic testing. Routine biochemical investigations were normal but copper and ceruloplasmin levels were found to be abnormal. Due to unavailability of copper histidine in our hospital and referred for further management. Symptomatically treated with Levetiracetam and biotin tablets. Reporting of this case is important, because of its rarity and association with association with significant microcephaly. Keywords: Menkes disease, Kinky Hair Disease, ATP7A gene, Copper histidine