The Johanson-Blizzard syndrome: case report and autopsy findings.
We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000273:Adipose Tissue / Q000473:pathology; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008286:Malabsorption Syndromes / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities; D010179:Pancreas / Q000473:pathology; D010182:Pancreatic Diseases / Q000235:genetics*; D013577:Syndrome