Paraganglioma of the carotid body: Report of 26 patients and review of the literature

Introduction: Paragangliomas are extra-adrenal tumors originating from the neuro-ectoderm, occurring from the skull base to the pelvic floor. In the head and neck region, they are found at the jugular bulb, the vagal and tympanic nerves and the aortic glomus. Objectives: The aim of the present study was to review clinical profile, treatment outcomes and long-term follow-up in patients with paragangliomas of the carotid body. Materials and methods: It is about a retrospective study of 26 patients (28 paragangliomas) followed and treated in Ear, Nose and Throat Department of La Rabta Hospital. Pre-, intra- and postoperative findings were analyzed. Results: The present study included 6 men and 20 women. Bilateral involvement of the carotid glomus was noted in 2 cases and tympano-jugular location was associated in 2 other cases. Ultrasound of the neck, computed tomography (CT) and magnetic resonance (MR) tomography were performed in 13, 17 and 10 cases, respectively. 2 patients have had preoperative embolization and 22 patients, in total, were operated. External radiation was an exclusive therapeutic option in 2 patients and adjuvant to incomplete surgery in one patient. Only one case of malignant paraganglioma was noted that evolution was, in fact, rapidly fatal

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

International audienceOBJECTIVES: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. METHODS: We screened a Tunisian child affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. RESULTS: The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G>A) and p.R143Q (c.428G>A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. CONCLUSIONS: The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient