Copper deficiency has been shown to be characteristic of kinky hair syndrome, and it is postulated to be responsible for the clinicopathological features of this sex-linked, recessive, neurodegenerative disorder. The syndrome includes seizures, mental retardation, abnormal hair, skeletal deformities, abnormally tortuous arteries, hypothermia, and early death. A new case corroborates the prior descriptions. In addition, an abnormality of pigmentation that, to my knowledge, has not been described previously is seen in a female sibling.
Volpintesta EJ. Menkes Kinky Hair Syndrome in a Black Infant. Am J Dis Child. 1974;128(2):244-246. doi:10.1001/archpedi.1974.02110270118024