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

Czech version

Authors: Bálinth Tóth ¹ ; Katarína Sláviková ^2,3; Miroslav Tedla ²
Authors‘ workplace: 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: Otorinolaryngol Foniatr, 73, 2024, No. 2, pp. 98-100.
Category: Case Reports
doi: https://doi.org/10.48095/ccorl202498

Overview

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

Sources

1. Asokan AG, D‘souza S, Jeganathan J et al. Fahr‘s Syndrome- An Interesting Case Presentation. J Clin Diagn Res 2013; 7 (3): 532–533. Doi: 10.7860/JCDR/2013/4946.2814.

2. Saleem S, Aslam HM, Anwar M et al. Fahr’s syndrome: literature review of current evidence. Orphanet J Rare Dis 2013; 8: 156. Doi: 10.1186/1750-1172-8-156.

3. Gülsün M, Baykız AF, Kabataş S et al. Fahr syndrome: Three cases presenting with psychiatric signs. Eur J Gen Med 2006; 3 (1): 35–40. Doi: 10.29333/ejgm/82361.

4. Simoni M, Pantoni L, Pracucci G et al. Prevalence of CT-detected cerebral abnormalities in an elderly Swedish population sample. Acta Neurol Scand 2008; 118 (4): 260–267. Doi: 10.1111/j.1600-0404.2008.01010.x.

5. de Brouwer E, de Jong, PA, De Jonghe A et al. Histology and computed tomography of incidental calcifications in the human basal ganglia. Neuroradiology 2021; 63 (7): 1145–1148. Doi: 10.1007/s00234-021-02680-4.

6. Savino E, Soavi C, Capatti E et al. Bilateral strio-pallido-dentate calcinosis (Fahr‘s disease): report of seven cases and revision of literature. BMC Neurol 2016; 16 (1): 165. Doi: 10.1186/s12883-016-0693-1.

7. Donzuso G, Mostile G, Nicoletti A et al. Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features. Neurol Sci 2019; 40 (11): 2251–2263. Doi: 10.1007/s10072-019-03998-x.

8. Gaillard F, Saber M. Basal ganglia calcification. Reference article. 2024 [online]. Dostupné z URL: https: //radiopaedia.org/articles/ basal-ganglia-calcification.

9. Carbone MG, Della Rocca F. Neuropsychiatric Manifestations of Fahr‘s Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review. Clin Neuropsychiatry 2022; 19 (2): 121–131. Doi: 10.36131/cnfioritieditore20220206.

10. Rücker M, Halder W, Kofler M et al. Levodopa-responsive dystonia and parkinsonism in Fahr syndrome. Neurol Clin Pract 2019; 9 (6): 527–529. Doi: 10.1212/CPJ.0000000000000663.

11. Peters MEM, de Brouwer EJM, Bartstra JW et al. Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets. Neurol Clin Pract 2020; 10 (5): 449–457. Doi: 10.1212/CPJ.0000000000000782.

12. Castagna A, Ruberto C, Cerra RP et al. Fahr’s Disease: Familial Idiopathic Basal Ganglia Calcification With and Without Extrapyramidal Disorders. Geriatr Care 2020; 6 (2). Doi: 10.4081/gc.2020.8670.

13. Manyam BV, Bhatt MH, Moore WD et al. Bilateral striopallidodentate calcinosis: cerebrospinal fluid, imaging, and electrophysiological studies. Ann Neurol 1992; 31 (4): 379–384. Doi: 10.1002/ana.410310406.

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