{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T05:57:46Z","timestamp":1789192666915,"version":"build-2803163510"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,6,7]]},"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>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 <jats:italic>SOX10<\/jats:italic> 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.<\/jats:p>","DOI":"10.1136\/bcr-2022-250360","type":"journal-article","created":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T12:50:34Z","timestamp":1655729434000},"page":"e250360","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation"],"prefix":"10.1136","volume":"15","author":[{"given":"Benjamin Wei-Liang","family":"Ng","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia"},{"name":"Faculty of Medicine, SEGi University, Kota Damansara, Selangor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6984-3861","authenticated-orcid":false,"given":"Jeffrey Soon-Yit","family":"Lee","sequence":"additional","affiliation":[{"name":"Clinical Research Centre, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5909-4855","authenticated-orcid":false,"given":"Teck-Hock","family":"Toh","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia"},{"name":"Faculty of Medicine, SEGi University, Kota Damansara, Selangor, Malaysia"},{"name":"Clinical Research Centre, Sibu Hospital, Ministry of Health Malaysia, Sibu, Sarawak, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lock-Hock","family":"Ngu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Kuala Lumpur General Hospital, Ministry of Health Malaysia, Kuala Lumpur, Wilayah Persekutuan, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,6,20]]},"reference":[{"key":"2025082712115180000_15.6.e250360.1","doi-asserted-by":"crossref","DOI":"10.4103\/0378-6323.26718","article-title":"Waardenburg syndrome","volume":"72","author":"Tagra","year":"2006","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"2025082712115180000_15.6.e250360.2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.1999.00750.x"},{"key":"2025082712115180000_15.6.e250360.3","unstructured":"Orphanet . Waardenburg-Shah syndrome, 2018. Available: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=GB&Expert=897 [Accessed 23 Mar 2022]."},{"key":"2025082712115180000_15.6.e250360.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2005.10.004"},{"key":"2025082712115180000_15.6.e250360.5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10404"},{"key":"2025082712115180000_15.6.e250360.6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.9.5161"},{"key":"2025082712115180000_15.6.e250360.7","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7"},{"key":"2025082712115180000_15.6.e250360.8","first-page":"1","article-title":"Children's bioethics and the zone of parental discretion","volume":"20","author":"Gillam","year":"2010","journal-title":"Monash Bioeth Rev"},{"key":"2025082712115180000_15.6.e250360.9","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1159\/000203780","article-title":"Parental perspective of the benefits of genetic testing in children with congenital deafness","volume":"12","author":"Geelhoed","year":"2009","journal-title":"Public Health Genomics"},{"key":"2025082712115180000_15.6.e250360.10","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.clindermatol.2014.10.007","article-title":"Pigmentary disorders of the eyes and skin","volume":"33","author":"Que","year":"2015","journal-title":"Clin Dermatol"},{"key":"2025082712115180000_15.6.e250360.11","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1212\/WNL.46.2.485","article-title":"Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens)","volume":"46","author":"Ruggieri","year":"1996","journal-title":"Neurology"},{"key":"2025082712115180000_15.6.e250360.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2004.09.013"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-250360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:12:01Z","timestamp":1756321921000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-250360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,6,20]]},"published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1136\/bcr-2022-250360"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-250360","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]}}}