The mild form of Menkes disease: Progress report on the original case

In 1981 we reported a patient with a mild form of Menkes disease [Procopis et al., 1981]. He presented at the age of 21 months with delayed motor and speech development due principally to severe cerebellar ataxia. Hair abnormality and facial appearance had suggested Menkes disease, but a serum copper level at the lower limit of normal had shaken confidence in this diagnosis. Copper levels in liver, intestinal mucosa and cultured fibroblasts showed the abnormalities expected in Menkes disease. The family history did not allow the mode of inheritance to be determined. We report on progress of this patient, now 10 years old. He has been treated with injections of copper histidinate for most of the intervening time. The results of studies on a subsequent pregnancy support X‐linked inheritance.