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Perioperative Medicine
Published in: Perioperative Medicine 1/2020

Open Access 01-12-2020 | Constipation | Case Study

Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan

Authors: Taimoor Ashraf Khan, C. Aqeel Safdar, Shehryar Zameer, Arshad Khushdil

Published in: Perioperative Medicine | Issue 1/2020

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Abstract

Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung’s disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, iris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction.
Literature
Cui L, Wong EH, Cheng G, de Almeida MF, So MT, Sham PC, Cherny SS, Tam PK, Garcia-Barceló MM. Genetic analyses of a three generation family segregating Hirschsprung disease and iris heterochromia. PLoS One. 2013;8(6):e66631.CrossRef
Jabeen R, Babar ME, Ahmad J, Awan AR. Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome. Mol Biol Rep. 2012;39(1):785–8.CrossRef
Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr. 1981;99(3):432–5.CrossRef
Shim WK, Derieg M, Powell BR, Hsia YE. Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome. J Pediatr Surg. 1999;34:1853–5.CrossRef
Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics. BMJ Open. 2013;3(3):e001917.CrossRef
Metadata
Title
Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan
Authors
Taimoor Ashraf Khan
C. Aqeel Safdar
Shehryar Zameer
Arshad Khushdil
Publication date
01-12-2020
Publisher
BioMed Central
Published in
Perioperative Medicine / Issue 1/2020
Electronic ISSN: 2047-0525
DOI
https://doi.org/10.1186/s13741-019-0135-x

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