Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism

Devriendt et al. (1996) proposed autosomal recessive inheritance for the disorder observed in 2 brothers but granted that X-linked recessive inheritance could not be excluded with certainty. Two brothers, born of healthy, nonconsanguineous Caucasian parents, had total alopecia at birth, with absent scalp hair, eyelashes, and eyebrows. During adolescence, hair progressively appeared on the scalp, but remained sparse and woolly. Tonic-clonic convulsions started during the first month of life and disappeared after age 4 in both. Electroencephalogram during childhood was normal. When seen at ages 30 and 23, there was alopecia of the scalp with normal eyebrows. Teeth and nails were normal. Both were mildly retarded. Testicular volume was 8 ml bilaterally with a small penis. Serum FSH (118850) levels were elevated, consistent with hypergonadotropic hypogonadism. Scanning electron microscopy showed an abnormal appearance of the hair shaft with damaged or absent cuticula and exposure of the underlying hair cell layers. This was described as central trichoptilosis ('hair plus feathers'), a condition of splitting of the shaft giving it a feathery appearance. Devriendt et al. (1996) noted that, since it is difficult to assess hypergonadotropic hypogonadism before adolescence, it is possible that this may have been the same disorder as that in the children reported by Pridmore et al. (1992), Richieri-Costa and Frota-Pessoa (1979), and Wessel et al. (1987). Several other alopecia-mental retardation syndromes are discussed elsewhere; see 203600, 203650, and 230740.