ISSN:
1432-1076
Keywords:
Multiple acyl-CoA-dehydrogenation deficiency
;
Glutaric aciduria type II
;
Congenital polycystic kidneys
;
Fatty liver
;
Cerebrocortical dysplasia
;
Fetopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The post mortem and microscopic findings of two newborn male sibling of Turkish origin suffering from multiple acyl-CoA-dehydrogenation deficiency (glutaric aciduria type II) are reported in detail for the first time. The morphological disease pattern was strikingly identical in both siblings: enlarged bilateral polycystic kidneys, symmetric warty dysplasia of the cerebral cortex, and bile duct hypoplasia, cholestasis, siderosis and fatty degeneration of the liver were found in both infants. In addition, features of Potter syndrome (pulmonary hypoplasia and ‘Potter face’) were observed only in sibling I, and focal hypoplasia and dysplasia of pancreatic ducts only in sibling II. It appears to be a rather remote chance that the rare metabolic disorder accidently coincided with the equally rare developmental abnormality in both siblings. We believe it to be more likely that both conditions are pathogenetically related in that the accumulation of large quantities of carboxylic acids exerted their effect already in intrauterine life, probably leading to cellular damage and secondary developmental defects of the fetal kidneys, liver, pancreas and brain. From the nature of the observed morphological alterations we speculate that the injury did not occur until after cessation of organogenesis during the fetal period of intrauterine development.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442082
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