| Abstrakt: |
A case study conducted at Peking Union Medical College Hospital in Beijing, China, focused on a three-year-old girl with ataxia and severe sensorineural hearing loss. Genetic testing revealed compound heterozygous variants in the TWNK gene, leading the medical team to suspect mitochondrial DNA depletion syndrome type 7. The efficacy of cochlear implantation was uncertain, so the parents opted for oral symptomatic supportive treatment instead. The study highlights the challenges of diagnosing and treating rare genetic disorders and emphasizes the importance of multidisciplinary approaches in healthcare. [Extracted from the article] |
