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KINKY HAIR SYNDROME

1974; Wiley; Volume: 63; Issue: 2 Linguagem: Inglês

10.1111/j.1651-2227.1974.tb04799.x

1651-2227

ANNE MARGRETHK, MØLLEKÆR,

Ion channel regulation and function

Abstract. Møllekær, A. M. (Department of Paediatrics and the Department of Neuropathology, århus University School of Medicine, århus, Denmark). Kinky Hair Syndrome. Acta Paediat Scand, 63289, 1974.–Two brothers with Kinky Hair Syndrome are described. Both of them had hypothermia. In the younger boy low levels of serum copper and ceruloplasrnin were demonstrated. At autopsy the most surprising finding was a demyelinating process in the brain. The fact that the younger boy showed signs of Kinky Hair syndrome at birth makes it difficult to accept an 'intestinal malabsorption of copper as the only underlying defect in the disease.