Menkes disease--an autopsy case with metal analysis of hair.
نویسندگان
چکیده
We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of varying caliber (monilethrix), and fractured (trichorrhexis nodosa). In the radioactivated analysis of scalp hair, copper elements was not found. The abnormal vessels were characterized by fragmentation and disruption of the internal elastic lamina with intimal proliferation. The neuronal destruction was widespread in the cerebral gray matter and in the cerebellum, and there was associated gliosis. The changes in the cerebellum were particularly severe, with neuronal loss in the internal granular cell layer. Many Purkinje cells were lost, and the remainder showed unusual dendritic sprouts from the cell body and grotesque proliferation of dendritic tree. In other organs, mild chronic peribronchitis, and scattered foci of immature glomeruli in renal cortex were noted.
منابع مشابه
MENKES\' SYNDROME: REPORT OF A CASE
An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.
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We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different dise...
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ورودعنوان ژورنال:
- Journal of Korean Medical Science
دوره 2 شماره
صفحات -
تاریخ انتشار 1987