ENT manifestations in FILS syndrome: a case report

Introduction FILS syndrome, a rare autosomal recessive disorder linked to POLE gene mutations, presents with facial dysmorphism, immunodeficiency, livedo, and short stature.

Materials A 2.5-year-old girl with FILS syndrome was referred to the ENT Department of University Hospital Erlangen in March 2023 due to regression in speech development. The newborn hearing screening was normal. Her medical history included hemophagocytic lymphohistiocytosis (HLH) with CNS involvement, recurrent respiratory infections, chronic EBV infection, and infantile OSAS.

Results Clinical examination revealed tympanic effusions and an ulcer on uvula and right palatal arch. TEOAE and free-field audiometry were pathologically abnormal bilaterally. Click-BERA confirmed profound bilateral hearing loss, necessitating hearing aids. Chronic tonsillitis exacerbation with deterioration of general condition led to tonsillectomy, adenotomy, bilateral myringotomy with tympanostomy tube insertion and Click-BERA (threshold: right/left: 70/85 dB). Histology showed florid, necrotizing tonsillitis. The absence of speech development despite hearing aids prompted a cochlear implant recommendation.

Discussion FILS syndrome manifests diverse phenotypes. Recurrent infections, chronic tonsillitis, and EBV infection may result from immunodeficiency associated with the syndrome. A connection between FILS syndrome and progressive sensorineural hearing loss is unreported. We cannot be sure about the extent to which HLH with CNS involvement is the cause of our patient´s hearing loss. We advocate regular pediatric audiological examinations for children with syndromic diseases or rare genetic changes.

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Artikel online veröffentlicht:
19. April 2024