title: Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype.
abstract: 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.
authors.affiliation: University Children's Hospital Muenster, Department of Pediatric Hematology and Oncology, Albert-Schweitzer-Strasse 33, 48149 Muenster, Germany. tobias.linden@ukmuenster.de
authors.forename: Tobias
authors.initials: T
authors.lastname: Linden
authors.forename: Karoline
authors.initials: K
authors.lastname: Ehlert
authors.forename: Charlotte M
authors.initials: CM
authors.lastname: Niemeyer
authors.forename: Gudrun
authors.initials: G
authors.lastname: Fleischhack
authors.forename: Heribert
authors.initials: H
authors.lastname: Jürgens
authors.forename: Claudia
authors.initials: C
authors.lastname: Rossig
mesh_terms: D000792:Angiography; D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D010641:Phenotype; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014184:Transplantation, Homologous