Congenital aplastic anemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome

Clinical Findings. Aplastic anemia was diagnosed at birth for a first child from healthy nonconsanguineous parents. The girl had hypoglycemia, which normalized within 2 months. Cow milk allergy was suspected initially, because of skin lesions and diarrhea, followed by severe growth retardation. Clinical and radiologic symptoms gradually became typical for Shwachman-Diamond syndrome. Two common mutations in the SBDS gene (183-184TA --> CT [K62X] and IVS2(258) + 2T --> C [C84fs]) were found. Results. Bone marrow transplantation from a matched unrelated donor was unsuccessful. The genetic information from the deceased patient enabled us to perform prenatal molecular studies during the subsequent pregnancy, successfully predicting a nonaffected child. Conclusions. This report describes for the first time the hematologic abnormalities of congenital aplastic anemia and prolonged neonatal hypoglycemia as the presenting symptoms of Shwachman-Diamond syndrome. The finding of common mutations in the presence of these symptoms at birth suggests the lack of a clear phenotype-genotype relationship in this syndrome