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Case Reports: Rare disease
Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation
  1. Benjamin Wei-Liang Ng1,2,
  2. Jeffrey Soon-Yit Lee3,
  3. Teck-Hock Toh1,2,3 and
  4. Lock-Hock Ngu4
  1. 1Department of Paediatrics, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia
  2. 2Faculty of Medicine, SEGi University, Kota Damansara, Selangor, Malaysia
  3. 3Clinical Research Centre, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia
  4. 4Department of Genetics, Kuala Lumpur General Hospital, Ministry of Health Malaysia, Kuala Lumpur, Wilayah Persekutuan, Malaysia
  1. Correspondence to Dr Benjamin Wei-Liang Ng; benng85{at}gmail.com

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.

  • Neuro genetics
  • Paediatrics

https://doi.org/10.1136/bcr-2022-250360

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    Footnotes

    • Contributors BW-LN conceptualised, designed and drafted the initial draft of the manuscript and approved the final manuscript. JS-YL, T-HT and L-HN conceptualised and designed the manuscript, critically revised the manuscript as submitted and also approved the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.