Menkes Disease: Clinical Presentation and Imaging Characteristics

A 5-month-old term male presented after 2 months of decreased feeding and weight loss and 1 week of eye deviation and behavioral arrest episodes. He had sparse brittle hair, lax skin, and hypotonia. Electroencephalogram revealed frequent bitemporal subclinical seizures. Magnetic resonance imaging (MRI) revealed restricted diffusion within the globus pallidus bilaterally, bitemporal white matter T2 hyperintensities, enhancement within the left amygdala/anterior hippocampus, bifrontal subdural hematomas, diffuse volume loss, and cervical and intracranial arterial tortuosity ([Figs. 1] [2] [3]). Serum copper was 12 µg/dL (reference: 75–153 µg/dL). Ceruloplasmin was 3 mg/dL (reference: 18–37 mg/dL). Molecular testing identified a pathogenic variant in the ATP7A gene (c.897del [p.Leu299Phefs*7]) confirming the diagnosis of Menkes disease, a rare X-linked neurodegenerative disorder of copper metabolism. Males present by 5 to 6 months with failure to thrive, developmental regression, brittle hair, and seizures. Progressive neurodegeneration occurs with death by 3 years. Early treatment with copper histidine may prolong survival but does not improve neurologic outcomes.[1] [2]