Menke's disease is a sex-linked recessive cerebral degenerative disorder. This defect is on the long arm of the X chromosome near the centromere. It is reported to occur in 1 of 298,000 live births. The onset is usually within the first few months of life, during the neonatal period. The defect is primarily due to copper malabsorption from the gut.
Labs usually show low serum copper and ceruloplasmin levels.
There are also low liver copper concentrations. There is increased intestinal and kidney copper. Radiographs may show flaring of the ribs and metaphyseal spurring which can mimic non-accidental trauma. Wormian bones may also be present on skull radiographs. MRI and MRA will demonstrate tortuous cerebral and systemic arteries as in this case.