Successful Cochlear Implantation for Intracochlear Fibrosis.

Intracochlear fibrosis is a rare disorder that can lead to hearing loss and make cochlear implantation challenging. The etiology of intracochlear fibrosis is diverse, including infections, inflammation, and past surgical procedures. The condition causes ossification and scar tissue growth within the cochlea, leading to progressive obstruction of the cochlear turn. High-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) are sensitive diagnostic modalities for fibrosis and ossification. There is a paucity of information in the literature regarding cochlear implantation during the fibrotic stage. This case report discussed the presentation, diagnosis, and surgical management of intracochlear fibrosis in a patient with a history of sudden and severe hearing loss. A 44-year-old female patient with a 20-year history of sudden profound sensorineural hearing loss (SNHL) in both ears was successfully treated with cochlear implantation. Thorough preoperative planning for cochlear implantation, including HRCT and MRI cochlear protocol, is crucial for identifying intracochlear fibrosis, which can be missed on routine audiometry. She underwent a surgery for right cochlear implantation using postauricular approach. Drilling was done to the round window niche, and we removed an abnormal, chalky white bone we encountered by continuing to drill this abnormal bone following the scale tympani until we identified the opening of the scala tympani, then we inserted the cochlear implant device. She was doing well on the subsequent post-operative follow-up.  Intracochlear fibrosis treatment with cochlear implantation has proven successful in several studies. Audiologic outcomes vary with time to implantation, so an early attempt should be made for cochlear implantation. Follow-up is important to monitor auditory outcomes.

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Background: Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. Methods: Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV1) Global Lung Index z-scores and body mass index z-scores. Results: 68 individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14 by genetic variants alone. 45 individuals from 40 families had 17 clinically actionable variants and four had variants of unknown significance in 14 PCD genes. CCDC39, DNAH11 and DNAAF11 were the most commonly mutated genes. 100% of variants were homozygous. Patients had a median age of 10.0 years at diagnosis, were highly consanguineous (93%) and 100% were of Arabic descent. Clinical features included persistent wet cough (99%), neonatal respiratory distress (84%) and situs inversus (43%). Lung function at diagnosis was already impaired (FEV1 z-score median -1.90 (-5.0-1.32)) and growth was mostly within the normal range (z-score mean -0.36 (-3.03-2.57). 19% individuals had finger clubbing. Conclusions: Despite limited local resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.