[Trichopoliodystrophy or Menkes disease].
Trichopoliodystrophy (also known as Menkes' kinky or steely hair disease), a recessive sex-linked syndrome, is characterized by severely retarded mental and physical development, convulsions, a particular phenotype and abnormalities of the hair, bones and arteries. Very low levels of copper and ceruloplasmin in the serum confirm the diagnosis. This rare disorder is caused by an inborn error of copper metabolism whose nature is not yet clear. Recent hypotheses favour either an abnormality in the transport of copper across the cell membrane or increased affinity for copper of the intracellular binding protein. Because the metabolic abnormality is expressed autonomously and irregularly in various tissues, the distribution of copper within the body is disordered. Up to now none of the many forms of copper therapy has succeeded in modifying the fatal course of the disease in humans. This article presents a new case, the first in Canada, and a review of the other 69 cases described in the literature. The new case illustrates, in addition to the classic picture, less well known features, such as diverticula of the bladder mucosa and serosa, as well as cortical atrophy and malformed cerebral vessels demonstrated by computer-assisted tomography.
D000792:Angiography; D001692:Biological Transport; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D003300:Copper / Q000378:metabolism; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D010859:Pigmentation Disorders / Q000150:complications; D011011:Pneumoencephalography; D014057:Tomography, X-Ray Computed
D003300:Copper
Trichopoliodystrophie, ou la maladie de Menkes.