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- Title
Afágia ako symptóm Fahrovho syndrómu – kazuistika.
- Authors
Tóth, Bálinth; Sláviková, Katarína; Tedla, Miroslav
- Abstract
Aphagia, as a common clinical symptom, demands thorough differential diagnosis with multidisciplinary collaboration. To gradually rule out the common causes of aphagia, the patient must undergo endoscopic and imaging examinations. A crucial modality is a CT scan of the cervical region, where even rarer diagnoses such as Fahr's syndrome can be revealed. Fahr's syndrome is a rare genetic disorder characterized by the presence of calcified deposits in the basal ganglia. The exact etiology is not yet known, with a presumed multifactorial influence of environmental factors and genetic mutations. It primarily manifests with extrapyramidal symptoms or dementia, and at times, it may exhibit atypical presentations, as seen in our case study.
- Subjects
GENETIC mutation; BASAL ganglia; COMPUTED tomography; DIFFERENTIAL diagnosis; DIAGNOSIS
- Publication
Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2024, Vol 73, Issue 2, p98
- ISSN
1210-7867
- Publication type
Article
- DOI
10.48095/ccorl202498