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In two generations of the G. family, five males suffered from a cerebral degenerative disorder characterized by (1) peculiar stubby white hair with the microscopic picture of pili torti, monilethrix, and trichorrexis nodosa; (2) early and severe retardation; and (3) severe neurological impairment beginning within the first month or two of life and rapidly progressing to decerebration. A sex-linked recessive trait has been implicated. Postmortem examination in two cases revealed a widespread degeneration of the cerebral grey matter, secondary degeneration of the cerebral white matter, and a diffuse atrophy of the cerebellar cortex. Plasma amino acid chromatography showed consistently elevated glutamic acid. The significance of this finding is unknown. Other biochemical investigations were found to be within normal limits. The suggestion is offered that the condition described represents a new clinical syndrome due to an inherited error in metabolism.
Menkes et al. (Tue,) studied this question.