Radiological findings in the kinky-hair syndrome.

Abstract

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 central nervous system disease. Two of the mother's 5 brothers and a maternal first cousin were similarly affected. The clinical and pathological aspects of two of these cases have been presented in detail elsewhere (1) and will be only summarized in these reports. CASE I: Dav. T., a Mexican-American male, appeared to be normal at birth, after an uneventful pregnancy and delivery. At three months of age, coarse, sparse, kinky scalp and eyebrow hair and generalized clonic seizures developed. The child was admitted to the Childrens Hospital of Los Angeles at that time with concomitant failure to thrive. Both height and weight were well below the sixteenth percentile for the patient's age and remained so during life. There was an absence of motor and mental development. In the ensuing months, the patient was noted to have an increased frequency of seizures, generalized hypertonicity and hyperreflexia, with a tendency toward opisthotonus, irritability, progressive difficulty with feeding, constipation, and dehydration. An extensive laboratory work-up revealed a moderate hypochromic anemia and a mild granulocytic hyperplasia of the bone marrow, with all other studies being within normal limits. An electroencephalogram (EEG) demonstrated generalized seizure discharges. A craniotomy at seven months of age disclosed bilateral subdural hygromas which were removed, with no subsequent improvement in the patient's condition. At the time of surgery, the superficial cerebral cortical vessels were noted to be excessive in number and quite tortuous. Pathological examination of the scalp hair demonstrated many of the individual hairs to be twisted about their own axes (pili torti) and to have variability in the shaft diameter (monilethrix). The patient died of a respiratory tract infection at the age of thirteen months. The postmortem report is discussed under PATHOLOGICAL FINDINGS.