Abstract
The clinical courses and C-T scans of 3 patients with Menkes Kinky Hair Syndrome (MKHS) are described. Once the diagnosis was considered and confirmatory evidence of disturbed copper metabolism was collected the overall clinical neurological courses were similar. However, striking variation was noted in the patterns of head growth, varying from early and consistent microcephaly to accelerated head growth and increased intra-cranial pressure. Similar variation in the C-T scan data was noted, from diffuse cerebral atrophy to cystic encephalomalacia to findings which suggested large bilateral subdural hematomas. An angiogram and autopsy in one case document respectively striking blood vessel abnormalities and old infarcts and ischemic lesions. These case findings illustrate the need to consider MKHS in young infants with retarded growth, delayed development and seizures in whom other clinical and radiographic evidence strongly suggests abuse and neglect.
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