Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation. Issue 6 (20th June 2022)

• Record Type: Journal Article
• Authors: Ng, Benjamin Wei-Liang; Lee, Jeffrey Soon-Yit; Toh, Teck-Hock; Ngu, Lock-Hock
• Is Part Of: BMJ case reports. Volume 15:Issue 6(2022)
• Publication Date: 2022-06-20
• Subjects: Neuro genetics -- Paediatrics; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2022-250360
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a rare manifestation of Waardenburg-Shah syndrome associated with mutations in the SOX10 gene. The phenotypic expression is variable, thus presenting a diagnostic challenge. Clinical manifestations of PCWH may mimic other neurocutaneous syndromes. A thorough history, careful physical examination, appropriate imaging studies and an index of suspicion are needed to diagnose this condition. We describe an adolescent girl with skin hypopigmentation and blue irides associated with sensorineural hearing loss, Hirschsprung disease, as well as seizures with neurological signs, and discuss the challenges in diagnosing PCWH.