Giant cell transformation cerebrohepatorenal syndrome.
An infant with cerebrohepatorenal syndrome of Zellweger had extensive hepatic giant cell transformation at 6 1/2 weeks of age. At 16 weeks the liver showed early cirrhosis and rare giant cells. Changes previously described have ranged from no abnormality in the neonate to cirrhosis at 20 weeks of age and indicate progression of liver disease in affected patients.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology*; D007674:Kidney Diseases / Q000473:pathology*; D008103:Liver Cirrhosis / Q000473:pathology; D008107:Liver Diseases / Q000473:pathology*; D008297:Male; D008930:Mitochondria, Liver / Q000648:ultrastructure; D013577:Syndrome