A case of Menke’s kinky hair disease

Abstract

(Key words: Menke’s disease, kinky hair disease) Menke’s disease is a progressive neurodegenerative condition associated with the presence of abnormal characteristic hair; the hair is depigmented, kinky and friable 1. Microscopic examination of the hair reveals several abnormalities such as depigmentation, fractures of the shaft (trichorrhexis nodosa) and twisting (pili torti). Feeding difficulties contribute to poor weight gain and severe mental retardation and optic atrophy are constant features of the disease. Low serum copper and caeruloplasmin levels have been documented consistently in this rare condition which is inherited in a sex-linked recessive manner. Case Report A ten month old boy from Matara presented wit