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Pendred Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Diagnosis of Pendred syndrome involves assessment of hearing loss (which may appear at birth or during childhood, and progress from a mixed conductive/SNHL to total hearing loss) and thyroid goiter (apparent from the first decade toward the end of the second decade), imaging study (MRI scanning of the inner ear for widened or large vestibular aqueducts with enlarged endolymphatic sacs [EVA] and abnormalities of the cochleae such as Mondini dysplasia), histopathology, genetic testing (for SLC26A4 pathogenic variants, which occur in 50% of patients) and further functional tests (e.g., perchlorate discharge test, thyroid function test for mild cases of thyroid dysfunction) [24–26].
CSF Leaks
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Congenital CSF leaks in association with encephalocele or meningoencephaloceles are uncommon. These are well diagnosed on MRI and this scan is recommended when sinus opacity is demonstrated adjacent to a skull base defect. Brain tissue contained within the encephalocele is invariably non-functioning and can be removed as part of the surgical procedure. Congenital abnormalities of the inner ear such as the Mondini Dysplasia may present with substantial CSF leaks where the CSF has only briefly transversed the perilymphatic space. Such leaks, in addition to presenting as hearing loss or recurrent meningitis, may also present with CSF otorrhea or CSF oto-rhinorrhea (Figure 108.1).
Vestibular nerve deficiency and vestibular function in children with unilateral hearing loss caused by cochlear nerve deficiency
Published in Acta Oto-Laryngologica, 2021
Keita Tsukada, Shin-ichi Usami
MRI findings were obtained by 3.0-Tesla MRI (Trio; Siemens, Munich, Germany) with a 3-dimensional fast spin-echo T2-weighted sequence. Images were acquired in the direct axial plane at a slice thickness of 0.5 mm. Reconstructed sagittal oblique images of the component through the IAC (cochlear, vestibular, and facial nerves) were obtained perpendicular to the long axis of the IAC (Figure 1(a)). Normal cochlear and vestibular nerves were considered equal to or greater in diameter than the facial nerve as visualized by reconstructed sagittal oblique images of the IAC. A deficient cochlear or vestibular nerve was diagnosed when smaller than the ipsilateral facial nerve or contralateral cochlear or vestibular nerve, or when the cochlear or vestibular nerve was not visualized. Patients with obvious inner ear malformation, such as Mondini dysplasia other than hypoplasia of modiolus, were excluded from this study. The diameter of the IAC was measured on the axial images at its midpoint.
From Mondini to the latest inner ear malformations’ classifications: an historical and critical review
Published in Hearing, Balance and Communication, 2019
Davide Brotto, Andrea Uberti, Renzo Manara
The first and most famous report of an IEM was made in 1791 by Carlo Mondini (1729–1803) (see Figure 1). Galvani’s pupil and follower on the chair of Human Anatomy Department at Bologna University (Italy), described a specimen with a cystic apex of the cochlea due to fusion of the medium and apical cochlear turns, with an enlarged vestibular aqueduct (about 15 mm in width) and a large vestibule. The basal coil and the other parts of the inner ear were reported as normal [2,3]. In honour to the Italian anatomist, this malformation was since then called Mondini deformity, or Mondini dysplasia or simply Mondini. These terms were used in the clinical practice for almost two centuries for basically any IEM; only at the end of the twentieth century a further characterization of the IEMs led to the change of nomenclature and these terms are today considered anachronistic and inappropriate.
Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations
Published in Acta Oto-Laryngologica, 2018
Wan-Xin Li, Hong Peng, Le Yang, Qing-Qing Hao, Wei Sun, Fei Ji, Wei-Wei Guo, Shi-Ming Yang
Mondini dysplasia (MD) was first described by Carlos Mondini in his report of an anatomic dissection of an 8-year-old deaf boy’s ears in 1791 [1]. Previously, the concept of MD was very general, including various types of bony and membranous anomalies, such as a flat cochlea; a short cochlear duct; a large endolymphatic duct and sac; a hypoplastic modiolus; large, small, or absent semicircular canals; immature or missing vestibular sense organs and nerves; and/or a deficient interscalar septum [2]. Two decades ago, Sennaroglu et al further refined cochlear malformations based on embryogenesis and morphological features, and suggested that Incomplete partition type II (IP-II) is closest to classic Mondini malformation [3]. Morphological characteristics of the cochlea included: only 1 to 1.5 turns, with a normal basal turn, but the top two turns fused into one cavity; with enlarged vestibular pool or vestibular aqueduct, and semicircular canals maybe partially developed or missing [3].