Schwachman-Diamond Syndrome in a Child with Severe Failure to Thrive and Gastrointestinal Symptoms, in Pakistan – A Case Report - Abstract
Shwachman-Diamond syndrome (SDS), is an autosomal recessive multi-organ genetic disorder characterized mainly by exocrine pancreatic insufficiency, skeletal abnormalities
and hematological abnormalities due to bone marrow dysfunction. It is a rare condition with only a few hundred cases reported. Herein, we report a case of SDS for the first time in
Pakistan. Our patient, a 2-year old male child, presented with a chronic history of severe failure to thrive, diarrhea and vomiting. After undergoing extensive evaluation and testing,
he was eventually diagnosed as a case of SDS. Elaborate clinical features and details pertaining to the diagnostic process and management are described.