ENFERMEDAD DE FAHR: UN CASO DE DESAFÍO DIAGNÓSTICO Y TERAPÉUTICO

Ximena Cediel; Yardany Mendez; Andrea Prieto

Submitted October 30, 2024

Published 2026-02-02

Artículos de Investigación

Vol. 29 (2016): Revista Médico Científica

FAHR DISEASE: A CASE OF DIAGNOSTIC AND THERAPEUTIC CHALLENGE

Ximena Cediel⁺⁻
Yardany Mendez⁺⁻
Andrea Prieto⁺⁻

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DOI: ND

Published: 2026-02-02

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Abstract

Fahr’s disease, also known as familial idiopathic basal ganglia calcification, is a rare and low prevailing neurological disorder in our environment, characterized by abnormal calcifications in several areas of the brain and seen primarily in the basal ganglia.

It exhibits a variable clinic of neuropsychiatric manifestations generally complemented by pseudohypoparathyroidism, a diagnosis that represents a challenge in the clinical practice and should be based in imaging and the compliance of diagnostic criteria.

A specific treatment is yet to be established, with symptomatic management being the best choice for those who suffer from it since they can benefit of good conditions despite a serious prognosis.

This article presents the case of a 79 year old woman who is admitted for a clinical profile of a three-day progress of drowsiness and delirium. Infection and hydroelectrolytic disorders are dismissed as an explanation to these symptoms. With CT scans and contrasted magnetic resonance imaging, Fahr disease is confirmed. Symptomatic treatment is started with a clinical progressive recovery of her neurological condition and a positive progress in the hospital discharge.

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References

Gamboa IO, Santiesteban WZ. Características tomográficas en un paciente con Síndrome de Fahr, a propósito de un caso. 2012;35(2):87– 9.
Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet. 1999;65(3):764– 72.
DaiX,GaoY,XuZ,CuiX,LiuJ,LiY,etal. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(7):1305– 10.
Morita M, Tsuge I, Matsuoka H, Ito Y, Itosu T, Yamamoto M, et al. Calcification in the basal ganglia with chronic active Epstein-Barr virus infection. Neurology. 1998;50(5):1485–8.
Pérez MacIá V, Martínez Cortés M, Pecino Esquerdo B, García Fernández L. Presentación atípica de síntomas psiquiátricos: enfermedad de Fahr. Psiquiatr Biol. 2012;19(4):137–8.
Aoud S El, Charfi N. Syndrome de Fahr : une complication rare de la radiothérapie cérébrale survenant chez un acromégalique. Pan Afr Med J [Internet]. 2014;18:8688. Available from: http://www.panafrican-med- journal.com/content/article/18/287/full/
Manyam B V. What is and what is not “Fahr”s disease’. Park Relat Disord. 2005;11(2):73–80.
Kim T-W, Park I-S, Kim S-H, Lee K-S, Kim Y-I, Kim J-S. Striopallidodentate calcification and progressive supranuclear palsy-like phenotype in a patient with idiopathic hypoparathyroidism. J Clin Neurol. 2007;3(1):57–61.
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr’s syndrome: literature review of current evidence. Orphanet J Rare Dis [Internet]. Orphanet Journal of Rare Diseases; 2013;8(1):156. Available from: http://www.pubmedcentral.nih.gov/articlere nder.fcgi?artid=3853434&tool=pmcentrez&r endertype=abstract
Németh AH. The genetics of primary dystonias and related disorders. Brain. 2002;125(Pt 4):695–721.
Loeb JA. Functional improvement in a patient with cerebral calcinosis bisphosphonate. Mov 1998;13(2):345–9.
using a Disord.
Otu AA, Anikwe JC, Cocker D. Fahr’s disease: a rare neurological presentation in a tropical setting. Clin Case Reports [Internet]. 2015;3(10):806–8. Available from: http://doi.wiley.com/10.1002/ccr3.349
Rozas JRI, Pfannkuch F. ESTUDIO MORFOLOGICO y BIOFISICO DE LA ENFERMEDAD DE FAHR. 1976;IX.
Cartier R L, Passig V C, Gormaz W A, López C J. Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr. Rev Med Chil. 2002;130(12):1383–90.
Fahr AH?DDE. NEUROCISTICERCOSE ASSOCIADA. 1939;
De Lemos RR, Ferreira JBMM, De Oliveira JRM. Reporting a new mutation at the SLC20A2 gene in a Brazilian family with idiopathic basal ganglia calcification - Correction. Eur J Neurol. 2013;20(9):43–4.
Stip E, Black N, Ekoé JM, Mottron L. Fahr’s disease and Asperger’s syndrome in a patient with primary hypoparathyroidism. J Neurol Neurosurg Psychiatry. 2000;68(1):115–6.
Broncel M, Koziróg M, Zabielska J, Poliwczak AR. Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr’s syndrome. Arch Med Sci. 2010;6(1):117–21.
Goyal D, Khan M, Qureshi B, Mier C, Lippmann S. Would you recognize Fahr’s disease if you saw it? Innov Clin Neurosci. 2014;11(1–2):26–8.

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[1] Gamboa IO, Santiesteban WZ. Características tomográficas en un paciente con Síndrome de Fahr, a propósito de un caso. 2012;35(2):87– 9.

[2] Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet. 1999;65(3):764– 72.

[3] DaiX,GaoY,XuZ,CuiX,LiuJ,LiY,etal. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(7):1305– 10.

[4] Morita M, Tsuge I, Matsuoka H, Ito Y, Itosu T, Yamamoto M, et al. Calcification in the basal ganglia with chronic active Epstein-Barr virus infection. Neurology. 1998;50(5):1485–8.

[5] Pérez MacIá V, Martínez Cortés M, Pecino Esquerdo B, García Fernández L. Presentación atípica de síntomas psiquiátricos: enfermedad de Fahr. Psiquiatr Biol. 2012;19(4):137–8.

[6] Aoud S El, Charfi N. Syndrome de Fahr : une complication rare de la radiothérapie cérébrale survenant chez un acromégalique. Pan Afr Med J [Internet]. 2014;18:8688. Available from: http://www.panafrican-med- journal.com/content/article/18/287/full/

[7] Manyam B V. What is and what is not “Fahr”s disease’. Park Relat Disord. 2005;11(2):73–80.

[8] Kim T-W, Park I-S, Kim S-H, Lee K-S, Kim Y-I, Kim J-S. Striopallidodentate calcification and progressive supranuclear palsy-like phenotype in a patient with idiopathic hypoparathyroidism. J Clin Neurol. 2007;3(1):57–61.

[9] Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr’s syndrome: literature review of current evidence. Orphanet J Rare Dis [Internet]. Orphanet Journal of Rare Diseases; 2013;8(1):156. Available from: http://www.pubmedcentral.nih.gov/articlere nder.fcgi?artid=3853434&tool=pmcentrez&r endertype=abstract

[10] Németh AH. The genetics of primary dystonias and related disorders. Brain. 2002;125(Pt 4):695–721.

[11] Loeb JA. Functional improvement in a patient with cerebral calcinosis bisphosphonate. Mov 1998;13(2):345–9.

[12] using a Disord.

[13] Otu AA, Anikwe JC, Cocker D. Fahr’s disease: a rare neurological presentation in a tropical setting. Clin Case Reports [Internet]. 2015;3(10):806–8. Available from: http://doi.wiley.com/10.1002/ccr3.349

[14] Rozas JRI, Pfannkuch F. ESTUDIO MORFOLOGICO y BIOFISICO DE LA ENFERMEDAD DE FAHR. 1976;IX.

[15] Cartier R L, Passig V C, Gormaz W A, López C J. Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr. Rev Med Chil. 2002;130(12):1383–90.

[16] Fahr AH?DDE. NEUROCISTICERCOSE ASSOCIADA. 1939;

[17] De Lemos RR, Ferreira JBMM, De Oliveira JRM. Reporting a new mutation at the SLC20A2 gene in a Brazilian family with idiopathic basal ganglia calcification - Correction. Eur J Neurol. 2013;20(9):43–4.

[18] Stip E, Black N, Ekoé JM, Mottron L. Fahr’s disease and Asperger’s syndrome in a patient with primary hypoparathyroidism. J Neurol Neurosurg Psychiatry. 2000;68(1):115–6.

[19] Broncel M, Koziróg M, Zabielska J, Poliwczak AR. Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr’s syndrome. Arch Med Sci. 2010;6(1):117–21.

[20] Goyal D, Khan M, Qureshi B, Mier C, Lippmann S. Would you recognize Fahr’s disease if you saw it? Innov Clin Neurosci. 2014;11(1–2):26–8.

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