Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder charact
erised by exocrine pancreas insufficiency, metaphyseal dysostosis and bone
marrow dysfunction. Recurrent severe bacterial infections and susceptibilit
y to leukaemia are the major causes of morbidity and mortality occurring pr
eferentially in patients with pancytopenia and features of myelodysplasia.
Here we report a patient with SDS leading to recurrent bacterial infections
and a deteriorating condition since early infancy. Extensive investigation
s disclosed severe pancytopenia, myelodysplasia and a clonal cytogenetic ab
normality, inv(14)(q11q32), as risk factors of leukaemic transformation. He
therefore underwent allogeneic gene-identical bone marrow transplantation
which resulted in correction of all haematological and immunological abnorm
alities within an 18-month follow up period.
Conclusion Bone marrow transplantation may be considered early as a valuabl
e treatment option especially in high risk Schwachman-Diamond syndrome pati
ents anticipating malignant transformation, life-threatening severe infecti
ons or further organ damage.