Introduction: Congenital cholesteatoma of the middle ear is un uncommon and yet not well-defined disease. Only few cases of cholesteatoma in thefossa ovalis with unusual clinical presentation have been reported in medical literature.
Case Report: We reported a 16-year-old girl with congenital cholesteatoma in the fossa ovalis with minimal clinical presentation. A small mass was found occluding the fossa ovalis and mimicking otosclerotic process within tympanic cavity. The operation started as stapedotomy, and when the process was confirmed it converted to mastoidectomy via the retroauricular approach.
Conclusion: The diagnosis of congenital cholesteatoma in children should always be considered, even if the clinical symptoms imitate other ear disorders, in our case otosclerosis.
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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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