[Facial nerve paralysis secondary to acute otitis media]. / Paralysie faciale périphérique suite à une otite moyenne aiguë

OBJECTS: To discuss clinical presentation and therapeutic approaches of facial paralysis in acute otitis media. METHODS: We present five cases of facial palsy in children with acute otitis media managed in our ENT department during a period of 12 years (2001-2012). RESULTS: The mean age was 14.2 years; sex ratio was 0.66. All patients presented with a facial asymmetry, but only 3 of them had otalgia before the onset of facial asymmetry. The facial palsy delay was 3.3 days. The ear examination showed that the tympanic membrane was congestive in 4 patients, associated with a bulging in 2 patients, and a small perforation in one patient. Our patients presented grade III to IV initial facial palsy according to House and Brackmann staging. Computed tomography scan revealed a dehiscence of the bony facial canal in one patient. Antibiotic therapy associated with intravenous corticosteroids was administered in all patients. All patients underwent a facial kinesis therapy. A progressive improvement of facial palsy was observed in 4 patients and complete recovery of facial function in one case. DISCUSSION: Conservative treatment associating intravenous antibiotic and corticosteroids with or without myringotomy is the standard approach.

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness. The aim of this study was to determine the relative frequency of GJB2 allele variants in Tunisia. In this study, we screened 138 patients with congenital hearing loss belonging to 131 families originating from different parts of Tunisia for mutations in GJB2 gene. GJB2 mutations were found in 39% of families (51/131). The most common mutation was c.35delG accounting for 35% of all cases (46/131). The second most frequent mutation was p.E47X present in 3.8% of families. Four identified mutations in our cohort have not been reported in Tunisia; p.V37I, c.235delC, p.G130A and the splice site mutation IVS1+1G>A (0.76%). These previously described mutations were detected only in families originating from Northern and not from other geographical regions in Tunisia. In conclusion we have confirmed the high frequency of c.35delG in Tunisia which represents 85.4% of all GJB2 mutant alleles. We have also extended the mutational spectrum of GJB2 gene in Tunisia and revealed a more pronounced allelic heterogeneity in the North compared to the rest of the country.