AN AUTOPSY CASE OF MENKES KINKY HAIR DISEASE

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Abstract
An autopsy case of Menkes kinky hair disease in a 20 mo. old male infant is presented and compared with the morphological findings in the literature. Main pathological changes are atrophy of the whole cerebellar cortex and bilateral temporal lobe, atrophy with demyelination of the white matter, tortuous cerebral arteries, multiple diverticulosis of the urinary bladder and hyaline-like deposition in the gastric submucosa. Microscopically, the peculiar degenerative change of Purkinje cells(somal sprouts) is the only characteristic lesion in this and other cases. Menkes kinky hair disease may be a syndrome due to metabolic disturbance appearing not only in ectoderm, e.g., CNS, but also in mesoderm, e.g., connective tissue and bone.