Open AccessSyndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman‐Diamond syndrome or new condition?
Author(s) -
Fadus Matthew C.,
Rush Eric T.,
Lettieri Christina K.
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.931
Subject(s) - medicine , exocrine pancreatic insufficiency , exome sequencing , bone marrow failure , bone marrow , presentation (obstetrics) , etiology , pediatrics , pathology , pancreas , surgery , mutation , genetics , stem cell , gene , haematopoiesis , biology
Key Clinical Message This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever‐expanding genetic etiologies. A patient who presents with bone marrow failure and pancreatic insufficiency raises the question of Shwachman‐Diamond syndrome (SDS) or a new condition which resembles SDS.