Search

BACKGROUND: Pendred syndrome (PS) is an autosomal recessive disorder, caused by biallelic mutations in the SLC26A4 gene which codes for the pendrin protein. It is characterized by sensorineural hearing loss associated with dyshormonogenic goiter. Which is a common cause of congenital deafness. CASE PRESENTATION: Hereby we describe a case of a 21- year-old women who presented to the ORL department with an anterior cervical mass that gradually increased in volume over 3 years associated with severe hearing loss since birth for which the patient was provided with hearing aids. Pendred syndrome is suspected because of the present of goiter and congenital hearing loss. CONCLUSIONS: Clinical presentation is very variable. However, the association of goiter and progressive deafness suggests the diagnosis of Pendred syndrome.

Objective: Our study aims to analyze the epidemiological, clinical, radiological, and etiological aspects of this disease. Methods: We reviewed data from patients who consulted the same seigneur for hearing loss and in whom the otoscopic examination was normal with a conductive hearing loss objectively confirmed on tonal audiometry, for a period of one year (from October 2018 to October 2019). Epidemiological, clinical and paraclinical data were collected and recorded on-farm records. Results: The average age is 36 years. The M/F sex ratio was 1.5 in favor of the men. None of our patients reported a personal otologic history. Three patients reported a notion of head trauma and a similar case in the family was found in four patients. Hearing loss is the most frequent reason for consultation. Otoscopic examination shows a normal tympanic membrane without perforation in all patients. CT scan of the temporal bone was performed in all patients (100%); it was normal in 4 cases (17%), which required surgical exploration. However, he showed images of otosclerosis in 15 cases (65%), an image of congenital cholesteatoma in a single patient, tympanic glomus in a single patient, an incudo-malleolar dislocation in a single patient (4.5%), and an incudo-stapedial dislocation in a single patient (4.5%). Conclusion: Conductive hearing loss (CHL) is a diagnostic challenge for the physician that requires a schematic approach. The diagnosis is based on a combination of clinical and paraclinical arguments.