[Menkes' kinky hair disease: a clinical and pathological case report with special reference to glial changes in the brain damage].
Menkes' kinky hair disease (Kinky hair disease, trichopoliodystrophy) is a rare hereditary disease of copper metabolism. In this study we report about the case of a boy with a long course of disease who died at the age of 6. The last phase of the disease was characterized by an almost uncontrollable excitation stage and later by an apallic syndrome. Clinical course and autopsy result are presented here. The protracted course obviously led to unusual neuropathological changes. In addition to the known neuronal damages an excessive reactive gliosis could be found. The unusual neuropathological course of this gliosis perhaps allows the conclusion that apart from neuronal damages disturbances of copper metabolism have an influence on the glia.
Engel
U
U
Abteilung für Neuropathologie, Medizinisches Zentrum für Pathologie, Marburg, Deutschland.
Ramaswamy
A
A
Mennel
H D
HD
Wolf
C
C
Dauner
I
I
D001921:Brain / Q000473:pathology*; D002648:Child; D005911:Gliosis; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000473:pathology* / Q000503:physiopathology; D009457:Neuroglia / Q000473:pathology*; D009474:Neurons / Q000473:pathology
Menkes' kinky hair disease: Ein klinischer und pathologisher Fallbericht unter besonderer Berücksichtigung der gliotischen Veränderungen bei der Hirnschädigung.