Premium
Histopathological Changes and Tissue Copper Concentrations of Menkes' Kinky‐hair Syndrome
Author(s) -
Okada K.,
Inaba H.,
Miyao M.
Publication year - 1980
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1980.tb00537.x
Subject(s) - medicine , pathology , menkes disease , kidney , autopsy , copper deficiency , cerebellum , hypoplasia , medulla , gliosis , endocrinology , copper , copper metabolism , chemistry , organic chemistry
Histopathological changes and copper concentrations in various organs were studied in an autopsy case of Menkes' kinky‐hair syndrome (MKHS) after treatment of the disease by copper supplementation for about three years. In the central nervous system, the principal abnormality was extensive nerve cell loss and gliosis, especially severe in the cerebral and cerebellar cortex and medial thalamic nuclei. Marked decrease was found in the number and somal sprouts of Purkinje' cells in the cerebellum. Other abnormalities were marked hypoplasia of the thymus associated with an aberrant thyroid gland, vacuolated nuclei (intranuclear glycogen) in hepatic cells and pyelonephritis in both kidneys in addition to arterial changes and multiple diverticulosis of the bladder. The level of copper was highest in the kidney and slightly elevated in the spleen and jejunum, but low in the brain and liver. No renal tubular damage was found, such as that observed in heavy‐metal introxication, but this study suggestes that marked copper accumulation may have occurred in the kidney of this patient with consequent renal tubular damage as a result of prolonged copper infusion therapy.