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KINKY HAIR SYNDROME
Author(s) -
MARGRETHK ANNE
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04799.x
Subject(s) - medicine , neuropathology , malabsorption , dermatology , pediatrics , autopsy , copper deficiency , disease , pathology , copper , chemistry , organic chemistry
. 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.