Shwachman-Diamond Syndrome: are we missing many?

Indian Pediatr. 2012 Sep;49(9):748-9. doi: 10.1007/s13312-012-0138-x.

Abstract

Shwachman-Diamond Syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. It is the most common cause of pancreatic insufficiency in children after cystic fibrosis. We report a child with classical SDS who presented to us predominantly with chronic diarrhea along with delayed growth and neutropenia.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Diseases / diagnosis*
  • Child
  • Diarrhea / diagnosis
  • Exocrine Pancreatic Insufficiency / diagnosis*
  • Humans
  • India
  • Lipomatosis / diagnosis*
  • Male
  • Shwachman-Diamond Syndrome