Cerebro-hepato-renal syndrome with parental consanguinity.
A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance.
D001253:Astrocytes; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000150:complications* / Q000473:pathology; D003241:Consanguinity; D003560:Cysts; D003711:Demyelinating Diseases; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007672:Kidney Cortex / Q000473:pathology; D007674:Kidney Diseases / Q000150:complications* / Q000473:pathology; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000150:complications* / Q000473:pathology; D013577:Syndrome