Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fi stulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identifi ed as the primary cause of BOR syndrome. We present a 3year old child with BOR syndrome, who came to us with bilateral low set, malformed ears & profound cochlear hearing loss along with bilateral branchial fi stulae & unilateral renal agenesis. This child underwent successful cochlear implantation recently. The clinical presentation, pre-operative investigations, intra-operative fi ndings & post-op habilitation status are presented with special highlights on the unique facial nerve course along with middle and inner ear anomalies which posed a surgical challenge during cochlear implantation.
The aim of this study was to investigate the efficacy and outcomes of intravenous high dose steroids in patients diagnosed with sudden sensori-neural hearing loss (SSNHL). The study also looked at the various co-morbidities influencing the outcomes of IV steroid therapy and also evaluated the improvement in associated symptoms like vertigo and tinnitus. This prospective study involved 30 patients treated during the 1 year period from January 2010 to 2011 in the Department of Otolaryngology, Madras ENT Research Foundation, Chennai. Male: female ratio was 1.3:1 and age range was 19-80 years. For all patients, pre treatment pure tone audiometry (PTA) was compared with post treatment PTA at 1 month. Treatment was given in the form of intravenous high dose methyl prednisolone. The patients were divided into two groups. Group 1 (20 pts) included SSNHL with no co-morbidity, group 2 (10 pts) included SSNHL with various co-morbidities. The mean hearing level improved from an average of 79.53 dB (HL) before treatment to 42.33 dB (HL) after treatment. In patients with predominantly low frequency HL (16 pts) PTA improved from 76.01 to 32.6 dB while in high frequency HL PTA improved from 83.55 to 53.43 dB. In our study of 30 patients, complete recovery occurred in 56.66% cases and marked improvement (>30 dB) in 16.66% patients. There was no improvement in 26.66% cases. Patients in group 2 had co-morbid factors like diabetes mellitus, dys-thyroidism and hypertension. A statistically significant improvement in the associated symptoms of tinnitus/vertigo, were also noted after IV steroid treatment. According to our results, emergency administration of high dose of Intra-venous corticosteroids to patients with SSNHL is highly recommended. Patients with high frequency preservation have better hearing improvement at the end of treatment. The critical time period for commencing IV treatment is less than 6 h from onset of hearing loss in order to restore normal hearing. High dose Intravenous steroids are a safe and effective treatment in sudden sensori-neural hearing loss.
The Journal of International Advanced Otology (J Int Adv Otol) is an international, peer reviewed, open access publication that is fully sponsored and owned by the European Academy of Otology and Neurotology and the Politzer Society. The journal is published triannually in April, August, and December and its publication language is English. The scope of the Journal is limited with otology, neurotology, audiology (excluding linguistics) and skull base medicine. The Journal of International Advanced Otology aims to publish manuscripts at the highest clinical and scientific level. J Int Adv Otol publishes original articles in the form of clinical and basic research, review articles, short reports and a limited number of case reports. Controversial patient discussions, communications on emerging technology, and historical issues will also be considered for publication. Target audience of J Int Adv Otol includes physicians and academics who work in the fields of otology, neurotology, audiology and skull base medicine.
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