Menkes Kinky-Hair Syndrome (Trichopoliodystrophy)

Abstract

Kinky-hair syndrome, a progressive neurodegenerative disorder which affects infant males and is characterized by unusual hair, seizures, psychomotor retardation, growth failure, and early death, was first described by Menkes et al.¹ Since the original description, 11 more cases have been reported from this country.² Additional features, including bone changes and tortuous cerebral vessels, have been noted subsequently. Recently Danks et al,³ from Australia, have reported very low levels of copper and copper oxidase in the blood in five cases. Poor absorption of copper was thought to be the mechanism involved, although this was not proven. This paper presents a new case of kinky-hair syndrome showing typical clinical and radiological features and very low copper levels in the blood, urine, and hair. Relevant literature in relation to copper deficiency in man and animals is reviewed.