Akademik Veri Yönetim Sistemi
Journal of the College of Physicians and Surgeons Pakistan, cilt.35, sa.1, ss.311-313, 2025 (SCI-Expanded, Scopus)
Brown-vialetto-van laere syndrome (BVVLS) is a rare autosomal recessive neurodegenerative disorder characterised by ponto-bulbar palsy and sensorineural hearing loss. Diaphragmatic paralysis is an uncommon manifestation of BVVLS, and there is limited literature on this association. Furthermore, there is no literature regarding diaphragmatic plication on BVVLS with diaphragmatic paralysis. The authors report a 17-year male diagnosed with BVVLS at the age of 12 years. In September 2023, the patient presented with complaints of widespread gas-related issues and dyspnoea. Computerised tomography showed an elevated left diaphragm with no additional findings. Fluoroscopy suggested a possible diaphragmatic paralysis. The patient underwent a uniportal videothoracoscopic left diaphragmatic plication. The chest tube was removed on the second postoperative day, and the patient was discharged on the third postoperative day. Diaphragmatic paralysis without trauma is a rare manifestation of BVVLS. This case emphasises the need for increased awareness of potential diaphragmatic involvement in BVVLS patients, as early diagnosis and intervention can provide symptomatic relief.