Radiological findings in the kinky-hair syndrome.

THE KINKY-hair syndrome was described in 1962 by Menkes and his associates (5) as a new degenerative disease of the central nervous system. Features of the syndrome include a sex-linked mode of transmission, failure to thrive, mental and motor retardation, clonic seizures, peculiar, kinky hair, and profound neuropathological disease. The purpose of this paper is to present a report of radiographic findings in the kinky-hair syndrome. Incidence and Inheritance Fifteen cases of this syndrome, occurring in three families, have appeared in the literature (1, 3, 5) (including two of the present series). Only males have been affected, consistent with a sex-linked recessive type inheritance. The mother of the three patients presented herein bore 7 sons and 2 daughters by 3 husbands. Six of the sons had coarse, sparse, kinky scalp and eyebrow hair, and 5 died before the age of three years, with signs of progressive central nervous system deterioration. The last-born (CASE III) is stillliving but has severe centra...