The Journal of International
Advanced Otology
Original Article

Cholesteatoma in Children with Sotos Syndrome


Department of Otolaryngology - Head and Neck Surgery, University of Toronto, The Hospital for Sick Children, Toronto, Canada


Department of Otolaryngology - Head and Neck Surgery The Children’s Hospital, Westmead, Australia


Department of Diagnostic Imaging, University of Toronto, Toronto, Canada

J Int Adv Otol 2022; 18: 139-144
DOI: 10.5152/iao.2022.21309
Read: 2110 Downloads: 546 Published: 01 March 2022

BACKGROUND: Sotos syndrome is a rare genetic disorder characterized by neurodevelopmental delay and excessive childhood growth including macrocephaly. In this study, we present our experience of children with Sotos syndrome and cholesteatoma.
METHODS: Retrospective case note review and cross-referencing with hospital picture archive and communication systems or cases identified from a prospective database of consecutive cholesteatoma surgeries.
RESULTS: A total of 400 children underwent surgery for acquired cholesteatoma and 5 (1%) had Sotos syndrome (1 bilaterally). In comparison, 42(11%) had cleft palate which is around 10 times more common than Sotos syndrome, 5 (1%) had Down syndrome, and 3 (1%) had Turner syndrome. The median age at primary surgery was 8 years old (3.5-10.9 years), 124 children with Sotos syndrome were identified in picture archive and communication systems (4% with cholesteatoma) of which temporal bone imaging was available in 86 (70%) at the median age of 9 years (0-17.2), and 33/86 (38%) had normal ears bilaterally on all imaging. Changes consistent with fluid or inflammation were present in 9/30 (30%) computed tomography and 24/72 (33%) magnetic resonance imaging scans. Development of mastoid pneumatization was impaired in 20/30 (67%) computed tomography and 8/72 (11%) magnetic resonance imaging scans. At 5 years, children with Sotos syndrome (33%) had greater recidivism than those with cleft palate (15%) (Kaplan–Meier log-rank analysis, P=.001)
CONCLUSION: Children with Sotos syndrome appear to be at increased risk of developing acquired cholesteatoma. Impaired temporal bone pneumatization is a common incidental finding in Sotos syndrome in keeping with this risk. Further study of this previously unreported association may improve the understanding of pathogenetic mechanisms in cholesteatoma.
Cite this article as: Leonard CG, Ranguis S, Lynn Cushing S, Blaser S, James A. Cholesteatoma in children with sotos syndrome. J Int Adv Otol. 2022;18(2):139-144.

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