Aphagia as a symptom of Fahr’s syndrome – case study

Česká verzia

Authors: Bálinth Tóth ¹ ; Katarína Sláviková ^2,3; Miroslav Tedla ²
Authors place of work: Lekárska fakulta UK v Bratislave ¹; Klinika otorinolaryngológie a chirurgie hlavy a krku LF UK a UN Bratislava ²; AGEL Rádiológia s. r. o. ³
Published in the journal: Otorinolaryngol Foniatr, 73, 2024, No. 2, pp. 98-100.
Category: Case Reports
doi: https://doi.org/10.48095/ccorl202498

Summary

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.

Keywords:

dysphagia – Basal ganglia – Fahr’s syndrome

Zdroje

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ORCID autorov

B. Tóth 0009-0003-8434-6032,

M. Tedla 0000-0002-3471-7195.

Prijaté k recenzii: 8. 8. 2023

Prijaté do tlače: 19. 12. 2023

Bálint Tóth

Lekárska fakulta

UK v Bratislave

Špitálska 24

813 72 Bratislava

balint0124@gmail.com