Cerebro-hepato-renal syndrome of Zellweger. Clinical and autopsy findings and a review of previous cases in Japan.
An autopsy case of cerebro-hepato-renal syndrome of Zellweger, which occurred in a 14-year-old Japanese girl, is reported. The autopsy revealed widely distributed cystic changes in addition to renal blastema of both kidneys, and the liver was cirrhotic. The case was complicated by anomalies such as high forehead, strabismus, and partial defect of chorioidea. So far there have been only 10 reported cases of cerebro-hepato-renal syndrome of Zellweger in Japan.
D000015:Abnormalities, Multiple / Q000473:pathology* / Q000503:physiopathology; D000293:Adolescent; D001344:Autopsy; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D011149:Pons / Q000473:pathology; D013577:Syndrome