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Article

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.

BMJ case reports - 20 Jun 2022

Ng Benjamin Wei-Liang, Lee Jeffrey Soon-Yit, Toh Teck-Hock, Ngu Lock-Hock

Abstract excerpt

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...

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Identifiers

PMID: 35725288
DOI: 10.1136/bcr-2022-250360
PMCID: PMC9214300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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