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.

Inherited bone marrow failure syndromes are disorders of hematopoiesis that mostly encountered in childhood. Taking the basisfrom genetics, they characterized by pancytopenia, increased risk developing myelodysplastic syndrome and malignancy.Extrahematopoietic presentations observed often addition to symptoms related defective (also known asbone failure). The biology, clinical features, managem...

Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400), characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction, with a risk, as high as 30%, to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). The SBDS gene (OMIM 607744) is localized on chromosome 7 at the band q11 and mutations of this gen...