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.
Similar content being viewed by others
References
Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964;65:645–663.
Smith OP, Hann IM, Chessels JM, Reeves BR, Milla P. Hematological abnormalities in Shwachman Diamond syndrome. Br J Haematol. 1996;94:279–284.
Arseniev L, Diedrich H, Link H. Allogenic bone marrow transplantation in a patient with Shwachman-Diamond syndrome. Ann Hematol. 1996;72:83–84.
Kakkar N, Vasishta RK, Marwaha N, Marwaha RK. Pathological case of the month. Arch Pediatr Adolesc Med. 2001;155:611–612.
Jha AK, Bansal D, Sharda S, Ray P, Steela L, Varma N, et al. Shwachman-Diamond syndrome in India. Pediatr Blood Cancer. 2012;58:479–480.
Hall GW, Dale P, Dodge JA. Shwachman Diamond syndrome: UK perspective. Arch Dis Child. 2006;91:512–524.
Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis and treatment. Hematol Oncol Clin N Amer. 2009;23:233–248.
Dror Y, Freedman MH. Shwachman Diamond Syndrome: A review. Br J Haematol. 2002;118:701–713.
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97–101.
Vibhakar R, Radhi M, Rumelhart S, Taatman D, Goldman F. Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2005;36:855–861.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Kathuria, R., Poddar, U. & Yachha, S.K. Shwachman-diamond syndrome: Are we missing many?. Indian Pediatr 49, 748–749 (2012). https://doi.org/10.1007/s13312-012-0138-x
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13312-012-0138-x