Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.
We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000150:complications* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications* / Q000473:pathology; D008297:Male; D009084:Mucopolysaccharidosis III / Q000150:complications* / Q000473:pathology