10 February 2019 : Case report
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome
Rare disease
Bruno Galletti1A, Francesco Gazia1EF*, Francesco Freni1B, Rita Angela Nicita1DE, Rocco Bruno1C, Francesco Galletti1AGDOI: 10.12659/AJCR.913893
Am J Case Rep 2019; 20:175-178
Abstract
BACKGROUND: The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by congenital hypothyroidism, facial dysmorphism, postaxial polydactyly, and mental retardation. The SBBYS variant of Ohdo syndrome is extremely rare with only 19 cases previously reported in the literature. A case is presented of chronic otitis media associated with cholesteatoma in a six-year-old boy with the SBBYS variant of Ohdo syndrome.
CASE REPORT: A 6-year-old boy presented with perforation of the tympanic membrane and a cholesteatoma in the mesotympanic-attic region associated with chronic otitis media. The child had previously been diagnosed with the SBBYS variant of Ohdo syndrome. Following computed tomography (CT) and magnetic resonance imaging (MRI), tympanoplasty was performed with removal of the lesion.
CONCLUSIONS: This is the first case described in the literature of chronic otitis media associated with cholesteatoma in a patient with the SBBYS variant of Ohdo syndrome. This case demonstrates the importance of specialist otolaryngology referral for patient management.
Keywords: Cholesteatoma, Hospitals, Pediatric, Otorhinolaryngologic Diseases, Rare Diseases, Blepharophimosis, Child, Cholesteatoma, Middle Ear, Chronic Disease, Congenital Hypothyroidism, Facies, Heart Defects, Congenital, intellectual disability, Joint Instability, Magnetic Resonance Imaging, Otitis Media
In Press
12 Feb 2024 : Case report
Diagnostic Challenges and Imaging Considerations for Intraparotid Facial Nerve Schwannoma: A Case Report an...Am J Case Rep In Press; DOI: 10.12659/AJCR.942870
12 Feb 2024 : Case report
Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PETAm J Case Rep In Press; DOI: 10.12659/AJCR.941169
12 Feb 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.942839
13 Feb 2024 : Case report
Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel HematomaAm J Case Rep In Press; DOI: 10.12659/AJCR.943519
Most Viewed Current Articles
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
05 Mar 2022 : Case report
Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...DOI :10.12659/AJCR.935336
Am J Case Rep 2022; 23:e935336
02 Apr 2022 : Case report
Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...DOI :10.12659/AJCR.935743
Am J Case Rep 2022; 23:e935743