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10 February 2019 : Case report  Italy

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 Galletti1AG

DOI: 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

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923