Abstract
Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death. The symptoms can be attributed to decreased activity of copper-dependent enzymes, but treatment with copper has so far failed to influence the course of the disease. We present the case of an 8.5-year-old boy, whom we treated alternately with intramuscular copper-histidine and oral D-penicillamine and who showed an extraordinary mild form of Menkes' disease. In contrast to his untreated maternal uncle, this patient had normal growth and intellectual development, but showed marked ataxia and slight speech difficulties. We suggest that parenteral copperhistidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease.
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Abbreviations
- CPL:
-
ceruloplasmin
- CSF:
-
cerebrospinal fluid
- Cu:
-
copper
- EEG:
-
electroencephalogram
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Nadal, D., Baerlocher, K. Menkes' disease: long-term treatment with copper and D-penicillamine. Eur J Pediatr 147, 621–625 (1988). https://doi.org/10.1007/BF00442477
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DOI: https://doi.org/10.1007/BF00442477