[Menkes' disease: apropos of a recent case].
The authors describes a case of Menkes' disease, sex-linked recessive hereditary disease characterized by early progressive psychomotor deterioration, failure to gain weight, seizures, hypothermie and characteristic Kinky hair (Pilitorti). This boy is a blind child, unable to fix and follow light. Fundus examination shows optic nerve atrophy with tortuosity of the retinal blood vessels. The case is discussed in the light of similar and others reports in the literature. The disease is believed to be cause by a generalized copper deficiency in the body by defect in copper intestinal absorbtion. The pathologic changes in the retina are similar to those seen in the brain which shows diffuse neuronal degeneration lose of nerve filers and optic atrophy. Retinal changes should be reversible by short term systemic copper administration.
D001766:Blindness / Q000209:etiology; D001928:Brain Diseases, Metabolic / Q000150:complications; D002675:Child, Preschool; D003300:Copper / Q000097:blood; D005654:Fundus Oculi; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications*; D009896:Optic Atrophy / Q000150:complications; D011596:Psychomotor Disorders; D012162:Retinal Degeneration / Q000150:complications / Q000188:drug therapy
D003300:Copper
La maladie de Menkes : A propos d'une nouvelle observation.