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Molecular diagnosis of Shwachman–Diamond syndrome in a child with incomplete clinical disease phenotype
Author(s) -
Linden Tobias,
Ehlert Karoline,
Niemeyer Charlotte M.,
Fleischhack Gudrun,
Jürgens Heribert,
Rossig Claudia
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22424
Subject(s) - medicine , exocrine pancreatic insufficiency , disease , clinical phenotype , transplantation , blood cancer , pediatrics , rare disease , pancreas , pathology , gastroenterology , cancer , phenotype , gene , biochemistry , chemistry
We report a 6‐year‐old female with congenital bone marrow failure, who was referred for allogeneic stem cell transplantation. An initial work‐up in infancy had not revealed any consistent symptoms associated with an inherited syndrome. Computed tomography of her abdomen for gastrointestinal bleeding after transplantation incidentally revealed a fat‐replaced pancreas and led to the molecular diagnosis of Shwachman–Diamond syndrome (SDS) in the absence of clinical exocrine pancreatic insufficiency. We conclude that SDS may escape the clinical consensus criteria for the disease. Increased awareness of unusual presentations may allow confirming the suspected diagnosis by molecular analysis and ensure optimal management. Pediatr Blood Cancer 2010;55:177–179. © 2010 Wiley‐Liss, Inc.