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Case Reports
. 2013:14:60.
doi: 10.11604/pamj.2013.14.60.1543. Epub 2013 Feb 12.

Shah-Waardenburg syndrome

Abdelhalim Mahmoudi  1 , Mohamed Rami, Khalid Khattala, Aziz Elmadi, My Abderrahmane Afifi, Bouabdallah Youssef
Affiliations
Case Reports

Shah-Waardenburg syndrome

Abdelhalim Mahmoudi et al. Pan Afr Med J. 2013.

Abstract

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

Keywords: Hirschsprung's disease; Intestinal aganglionosis; Waardenburg-Shah syndrome; neurocristopathy.

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Figures

Figure 1
Figure 1
The patient had had a white forelock of hair
Figure 2
Figure 2
Radiographic X-Ray revealed dilated bowel loops but no air-fluid levels or pelvic gas
Figure 3
Figure 3
Intra-operatively, the colon and distal ileum were found contracted; the ileum proximal to the transition zone was distended
See this image and copyright information in PMC

References

    1. Shah KN, Dalal SJ, Desai MP, et al. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr. 1981;3:432–5. - PubMed
    1. Farndon PA, Bianchi A. Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child. 1983;11:932–3. - PMC - PubMed
    1. Gnananayagam EJ, Solomon R, Chandran A, et al. Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome. Semin Pediatr Surg. 2003;3:156–61. - PubMed
    1. Sarin YK, Manchanda V. Shah- Waardenburg syndrome. Indian Pediatr. 2006;43(5):452. - PubMed
    1. Currie ABM, Haddad M, Honeyman M, et al. Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease-Waardenburg's syndrome. J Pediatr Surg. 1986;21:248–50.

Publication types

Supplementary concepts