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      Perioperative Care of a Patient With Waardenburg Syndrome

      case-report
      Author(s): a , c , b
      Publication date (Electronic):
      Journal: Journal of Medical Cases
      Publisher: Elmer Press
      Keywords: Waardenburg syndrome, Anesthesia, Airway, Sensorineural hearing loss

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          Abstract

          Waardenburg syndrome is a genetic disorder, resulting in defective control of the division and migration of neural crest cells including the melanocyte lineage during embryonic development. Primary involvement of melanocytes results in the characteristic phenotypic involvement including a white forelock, vitiligo, and heterochromia. Involvement of the organ of Corti leads to sensorineural hearing loss. Involvement of the craniofacial mesenchyme results in abnormal facial features, airway abnormality, and upper limb involvement malformations. Given the potential for end-organ involvement, surgical intervention may be required. Specific concerns during anesthetic care include the potential for difficulties with endotracheal intubation, tracheal involvement, impairment of communication related to deafness, and associated congenital heart disease.

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          Waardenburg syndrome.

          A P Read, V Newton (1997)
          Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives.
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            Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

            D Goerich, E Sock, N-C Ha … (2000)
            Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in 40 000 that manifests with sensorineural deafness and pigmentation defects. It is classified into four types depending on the presence or absence of additional symptoms. WS1 and WS3 are due to mutations in the PAX3 gene whereas some WS2 cases are associated with mutations in the microphthalmia-associated transcription factor (MITF) gene. The WS4 phenotype can result from mutations in the endothelin-B receptor gene (EDNRB), in the gene for its ligand, endothelin-3 (EDN3), or in the SOX10 gene. PAX3 has been shown to regulate MITF gene expression. The recent implication of SOX10 in WS4 prompted us to test whether this transcription factor, known to cooperate in vitro with PAX3, is also able to regulate expression from the MITF promoter. Here we show that SOX10, in synergy with PAX3, strongly activates MITF expression in transfection assays. Analyses revealed that PAX3 and SOX10 interact directly by binding to a proximal region of the MITF promoter containing binding sites for both factors. Moreover, SOX10 or PAX3 mutant proteins fail to transactivate this promoter, providing further evidence that the two genes act in concert to directly regulate expression of MITF. In situ hybridization experiments carried out in the dominant megacolon (DOM:) mouse, confirmed that SOX10 dysfunction impairs MITF: expression as well as melanocytic development and survival. These experiments, which demonstrate an interaction between three of the genes that are altered in WS, could explain the auditory-pigmentary symptoms of this disease.
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              A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

              P WAARDENBURG (1951)
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Med Cases
                Journal ID (iso-abbrev): J Med Cases
                Journal ID (publisher-id): Elmer Press
                Title: Journal of Medical Cases
                Publisher: Elmer Press
                ISSN (Print): 1923-4155
                ISSN (Electronic): 1923-4163
                Publication date (Print): October 2021
                Publication date (Electronic): 29 September 2021
                Volume: 12
                Issue: 10
                Pages: 381-385
                Affiliations
                [a ]Heritage College of Osteopathic Medicine - Dublin Campus, Ohio University, Athens, OH, USA
                [b ]Department of Anesthesiology & Pain Medicine, Nationwide Children’s Hospital and the Department of Anesthesiology & Pain Medicine, The Ohio State University College of Medicine, Columbus, OH, USA
                Author notes
                [c ]Corresponding Author: Miranda Holbrook, Heritage College of Osteopathic Medicine - Dublin Campus, Ohio University, Athens, OH, USA. Email: mh801719@ 123456ohio.edu
                Article
                DOI: 10.14740/jmc3751
                PMC ID: 8510664
                SO-VID: 6484d534-5490-4ff6-87bd-0b6b87432f83
                Copyright © Copyright 2021, Holbrook et al.
                License:

                This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 15 July 2021
                Date accepted : 29 July 2021
                Categories
                Subject: Case Report

                Keywords: waardenburg syndrome,anesthesia,airway,sensorineural hearing loss
                Data availability:
                Keywords: waardenburg syndrome, anesthesia, airway, sensorineural hearing loss

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