Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
RESULTS
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.
Kuijpers
Taco W
TW
Emma Children's Hospital, Amsterdam, Netherlands. t.w.kuijpers@amc.uva.nl
Nannenberg
Eline
E
Alders
Marielle
M
Bredius
Robbert
R
Hennekam
Raoul C M
RC
D000741:Anemia, Aplastic / Q000151:congenital* / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007003:Hypoglycemia / Q000235:genetics; D007223:Infant; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
D011506:Proteins; C470521:SBDS protein, human