SIMULTANEOUS PRESENTATION OF MICHEAL AND MONDINI MALFORMATIONS IN A SINGLE PATIENT; REPORT OF A RARE CASE.
Abstract
Autosomal-recessive genes account for over 80% of non-syndromic deafness patients, with a large proportion of those resulting in cochlear disease. In our case, on the left, there was a total lack of all inner ear structures, including the cochlea, semicircular canals, vestibular and cochlear aqueducts, resulting in Michael deformity/full labyrinthine aplasia. However, cochlea abnormally has 1.5 turns: a basal turn and a cystic apex with an expanded vestibule, resulting in the mondini deformity on the right. Pakistan has a high frequency of inherited pre-lingual deafness due to the strong cultural practice of consanguineous marriages and a lack of information regarding screening procedures.
Keywords: Ear Malformations, Micheal Malformation, Mondini Malformation, CT, MRI, Radiology.
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Bartel-Friedrich S, Wulke C. Classification and diagnosis of ear malformations. GMS current topics in otorhinolaryngology, head and neck surgery. 2007;6.
Umul A, Demirtas H, Celik AO. Radiological Findings of Michel Aplasia. Acta Informatica Medica. 2016 Jun;24(3):215.
Swain SK. Cochlear deformities and its implication in cochlear implantation: a review. International Journal of Research in Medical Sciences. 2022 Oct;10(10):2339.
Robson CD. Congenital hearing impairment. Paediat Radiol. 2006;36:309–24.
Ozgen B, Oguz KK, Atas A, Sennaroglu L. Complete labyrinthine aplasia:clinical and radiological findings with review of the literature. AJNR Am J Neuroradiol. 2009;30:774–80.
Michel P. Me´moire sur les anomalies conge´nitales de l’oreille interne. Gazette Me´d de Strasbourg. 1863:55–58.
Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear:a classification based on organogenesis. Laryngoscope. 1987;97:2–14.
Sennaroglu L, Saatci I. A new classification for cochleovestibular malformations. Laryngoscope. 2002;112:2230–41.
Schuknecht HF. Mondini Dysplasia: A Clinical and Pathological Study. Annals of Otology, Rhinology & Laryngology. 1980;89(1_suppl):3-23.
Ozcan C, Vayisoglu Y, Gorur K, Yildiz A, İsmi O, Kuyucu N. Mondini dysplasia presenting with recurrent meningitis. The Journal of International Advanced Otology. 2010 Oct 1;6(3):415.
Tuzcu G, Turna Ö, Yardımcı AH, Acıoğlu E. İçKulağın Konjenital Anomalileri:Temporal Kemik MRG ve BT ile Değerlendirme. İstanbul Med J. 2014;15:171–4.
Şanal HT. Kas iskelet sisteminin değerlendirilmesinde radyolojik görüntüleme yöntemleri. TOTBİD Dergisi. 2013;12(1):1–6.
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