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

Taimoor Ashraf Khan; C Aqeel Safdar; Shehryar Zameer; Arshad Khushdil

doi:10.1186/s13741-019-0135-x

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

Perioper Med (Lond). 2020 Jan 24:9:4. doi: 10.1186/s13741-019-0135-x. eCollection 2020.

Authors

Taimoor Ashraf Khan¹, C Aqeel Safdar¹, Shehryar Zameer¹, Arshad Khushdil¹

Affiliation

¹ National University of Medical Sciences, Rawalpindi, Pakistan.

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.

Keywords: Hirschsprung’s disease; Total intestinal aganglionosis; Waardenburg syndrome type IV; Waardenburg-Shah Syndrome.