Waardenburg Syndrome Type 1 in a Central African Infant: A Case Highlighting Diagnostic Challenges in a Resource-Limited Setting
Syndrome de Waardenburg de Type 1 Chez un Nourrisson Centrafricain : Un Cas Illustrant les Défis du Diagnostic en Contexte de Ressources Limitées
DOI:
https://doi.org/10.5281/zenodo.17624965Keywords:
Waardenburg Syndrome, Iris Heterochromia, Poliosis, BanguiAbstract
RÉSUMÉ
Le syndrome de Waardenburg est une maladie génétique rare caractérisée par une surdité neurosensorielle et des anomalies de la pigmentation. Sa prévalence est estimée à 1/40 000 naissances. Nous décrivons le cas d’un nourrisson de six mois, vu en République Centrafricaine pour une mèche de cheveux blanche frontale et une hétérochromie irienne. L’examen a confirmé un dystocanthus et une surdité neurosensorielle bilatérale, établissant le diagnostic clinique de syndrome de Waardenburg de type 1. L’enfant ne présentait pas de complications digestives ou cardiaques. Ce cas souligne l’importance de la reconnaissance précoce des signes cliniques par les premiers intervenants, condition essentielle pour une prise en charge multidisciplinaire optimale, notamment la correction de la surdité et le conseil génétique.
ABSTRACT
Waardenburg syndrome is a rare genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies, with an estimated prevalence of 1 in 40,000 births. We report the case of a six-month-old infant in the Central African Republic who presented with a white forelock and iris heterochromia. Examination confirmed dystopia canthorum and bilateral sensorineural hearing loss, establishing the clinical diagnosis of Waardenburg syndrome type 1. The child had no associated digestive or cardiac complications. This case underscores the critical need for early recognition of clinical signs by frontline healthcare providers, which is a prerequisite for optimal multidisciplinary management, including auditory rehabilitation and genetic counselling.
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