Introduction And Importance: Congenital cholesteatoma is a rare entity that arises from epithelial cell rests in the middle ear, parts of temporal bone or even intracranially. However, it can go unrecognized for several years making the consideration of such diagnosis a bit tricky among otologists.
Case Presentation: We are reporting a case of a young female adult who presented with unilateral hearing loss for one year and intermittent episodes of facial twitching in addition to periods of recurrent unilateral facial palsy that happened about three times in the past two years.
Clinical Discussion: Otoscopic examination revealed a slight whitish mass behind the superior half of an intact tympanic membrane. High-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) proposed a differential diagnosis of congenital cholesteatoma and facial schwannoma. Canal wall up (CWU) mastoidectomy with exploration of anterior epitympanum and partial facial nerve decompression was made with complete removal of cholesteatoma mass and ossicular reconstruction.
Conclusion: A recurrent or non-resolving facial asymmetry in an otherwise healthy adult should raise the suspicion among otolaryngologists to investigate the possibility of congenital cholesteatoma.
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http://dx.doi.org/10.1016/j.ijscr.2024.110360 | DOI Listing |
J Int Adv Otol
November 2024
Department of Otolaryngology, Head and Neck Surgery, Kobe University Faculty of Medicine, Hyogo, Japan.
Bilateral congenital cholesteatoma (BCC) is rare among congenital cholesteatoma (CC) cases, and bilateral surgery poses a significant psychophysical burden on pediatric patients. Here, we present 2 pediatric cases of BCC that were successfully managed using simultaneous bilateral transcanal endoscopic ear surgery (TEES). The surgical approach provided clear visualization of the middle ear structures, enabling successful cholesteatoma removal with minimal invasiveness and a short operative time.
View Article and Find Full Text PDFDiagn Interv Radiol
December 2024
Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology, Seoul, Korea.
Purpose: To investigate the differences in computed tomography (CT) features between closed-type congenital cholesteatoma (CCC) and open-type congenital cholesteatoma (OCC) of the middle ear and to evaluate the usefulness of preoperative CT examination for staging workup of congenital cholesteatoma (CC) in correlation with the surgical findings.
Methods: We retrospectively reviewed the preoperative CT scans of the temporal bone obtained from 80 patients with surgically confirmed CC of the middle ear. All patients had a solitary lesion, except for one patient with two lesions, resulting in 81 CCs, which formed the basis of this study.
Am J Med Genet A
December 2024
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and autoinflammation. We described six patients (four adults) from two unrelated families carrying a known p.
View Article and Find Full Text PDFAm J Case Rep
November 2024
Department of Otorhinolaryngology-Head and Neck Surgery, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
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