Otolaryngology Case Reports · Published 2026-01-14 · DOI 10.1016/j.xocr.2026.100727
Introduction: Congenital cholesteatoma is a rare but locally aggressive middle ear lesion associated with potentially serious complications. In children with autism spectrum disorder (ASD), diagnostic delay is further compounded by communication and behavioral challenges. Case presentation: A 5-year-old Syrian boy with ASD, previously diagnosed at age two, underwent mastoidectomy for right congenital cholesteatoma discovered incidentally during neuroimaging for developmental delay. Despite prior surgical intervention, he presented three years later with recurrent foul-smelling otorrhea. Imaging revealed a recurrent lesion with ossicular erosion, exposure of the sigmoid sinus, and thinning of the middle cranial fossa plate. Revision surgery via a postauricular approach achieved complete excision, with dural and sinus reconstruction using cartilage and temporalis fascia, along with ossicular chain reconstruction. Clinical discussion: The coexistence of ASD posed additional challenges during clinical evaluation and follow-up. Nevertheless, tailored surgical management resulted in disease control, with no recurrence during two years of follow-up. Conclusion: This case highlights the diagnostic and therapeutic challenges of congenital cholesteatoma in children with ASD. Early imaging, vigilant follow-up, and individualized surgical planning are essential to prevent recurrence and life-threatening complications while improving long-term outcomes.
Abstract from DOAJ. Public domain (CC0 1.0).
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