Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities

Results In 10 patients an SBDS mutation was identified in both alleles, patient 11 was heterozygous. The mean age at diagnosis was 2.9 years. All patients had exocrine pancreatic insufficiency. Radiological evidence of skeletal dysplasia was present in 9/10 studied. Neutropenia was present in 8/11 patients. Failure to thrive was demonstrated for all but P8. 2/3 patients experiencing cholestatic hepatitis required admission to ICU. Both had blood CMV PCR(+). The 3 patient suffers from chronic liver failure due to liver fibrosis. 10/11 experienced recurrent infections (septicemia, respiratory tract infections, skin infections). Two patients had an episode of symptomatic (convulsions) hypoglycemia without satisfying explanation despite extensive metabolic analysis. 3/11 patients received a diagnosis of Jeune syndrome (one patient died of respiratory insufficiency) and 1/11 of hypobetalipoproteinemia prior to diagnosis of SDS. A metabolic disorder was first suspected in P11 because of hypertrophic cardiomyopathy. Two couples of siblings in our cohort showed an entirely different course.