Fahr syndrome with hypoparathyroidism causing refractory epilepsy
PDF (Español (España))

Keywords

Hypoparathyroidism
Hypocalcemia
Seizures
Drug resistant epilepsy
Basal Ganglia

How to Cite

Mora-Garzón, E. R. ., Restrepo Valencia, C. A., Parra Santacruz, C. P., & Rodas Restrepo, V. (2022). Fahr syndrome with hypoparathyroidism causing refractory epilepsy. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 8(4). https://doi.org/10.53853/encr.8.4.717

Abstract

Introduction: Primary hypoparathyroidism is characterized by inappropriately low or
absent levels of parathyroid hormone (PTH) which leads to chronic hypocalcemia, and cause neuro-muscular disturbances predominantly.
Purpose: A case of a patient with primary hypoparathyroidism is presented in order to show its clinical characteristics, diagnostic criteria and differential pathologies. The importance of an early diagnosis and a timely treatment that has an impact on the prognosis and quality of life of the patients is evidenced.
Case presentation: We present the case of a 23 years old woman with history of drug
resistant epilepsy that began at 2 months of age, she received multiple anticonvulsant drugs but seizures continue, at the age of 22 years old we documented basal ganglia and frontal calcifications. She was referred to endocrinology. Phosphocalcium profile studies showed severe hypocalcemia, hyperphosphatemia and suppressed PTH.
Discussion and conclusion: The diagnosis of Fahr syndrome associated with primary
hypoparathyroidism was made. Therefore treatment with calcium carbonate and calcitriol was established, achieving control of seizures and finally suspension of anticonvulsant drugs. These findings suggest including primary hypoparathyroidism as a differential diagnosis in patients with refractory epilepsy.

https://doi.org/10.53853/encr.8.4.717
PDF (Español (España))

References

Bindu M, Harinarayana C. Hypoparathyroidism: A rare treatable cause of epilepsy - Report of two cases. Eur J Neurol. 2006 jul.;13(7):8. DOI: https://doi.org/10.1111/j.1468-1331.2006.01287.x

Rodríguez-Jiménez C, Guadalix S, Sánchez R. Hiperparatiroidismo primario e hipoparatiroidismos. Med. 2012 sept. 1;11(16):951-60. DOI: https://doi.org/10.1016/S0304-5412(12)70410-9

Tabacco G, Bilezikian J. New Directions in Treatment of Hypoparathyroidism. Endocrinol Metab Clin North Am. 2018;47(4):901-15. DOI: https://doi.org/10.1016/j.ecl.2018.07.013

Cianferotti L, Marcucci G, Brandi M. Causes and pathophysiology of hypoparathyroidism. Best Pr Res Clin Endocrinol Metab. 2018;32(6):909-25. DOI: https://doi.org/10.1016/j.beem.2018.07.001

Gafni R, Collins M. Hypoparathyroidism. N Engl J Med. 2019;380(18):1738-47. DOI: https://doi.org/10.1056/NEJMcp1800213

Goswami R, Sharma R, Sreenivas V, Gupta N, Ganapathy A, Das S. Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism. Clin Endocrinol. 2012 ag.;77(2):200-6. DOI: https://doi.org/10.1111/j.1365-2265.2012.04353.x

Lee Y, Park S, Kim Y, Park K, Kim I, Park J, et al. A Case of Seizure Revealing Fahr’s Syndrome with Primary Hypoparathyroidism. Am J Case Rep. 2018;19:1430-3. DOI: https://doi.org/10.12659/AJCR.913382

Perugula M, Lippmann S. Fahr’s Disease or Fahr’s Syndrome? Innov Clin Neurosci. 2016;13(7-8):45-6.

Kim K, Lee W, Na Jy, Lee J. Fahr’s Syndrome Presenting with Recurrent Epileptic Seizures. J Korean Epilepsy Soc. 2010;14(1):27-30.

Clarke B, Brown E, Collins M, Jüppner H, Lakatos P, Levine M, et al. Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab. 2016;101(6):2284-99. DOI: https://doi.org/10.1210/jc.2015-3908

Hendy G, Guarnieri V, Canaff L. Calcium-Sensing Receptor and Associated Diseases. Prog Mol Biol Transl Sci. 2009;89(C):31-95. DOI: https://doi.org/10.1016/S1877-1173(09)89003-0

Vela-Desojo A, Pérez G, Grau G, Aguayo A, Rodríguez A, Rica I. Hipoparatiroidismo. Rev Esp Endocrinol Pediatr. 2013;4(supl):120-6.

Maeda S, Fortes E, Oliveira U, Borba V, Lazaretti-Castro M. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metab. 2006;50:664-73. DOI: https://doi.org/10.1590/S0004-27302006000400012

Astor M, Løvås K, Wolff AS, Nedrebø B, Bratland E, Steen-Johnsen J, et al. Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6. Endocr Connect. 2015;4(4):215-22. DOI: https://doi.org/10.1530/EC-15-0066

Román A, Osorio M, Latorre G, Gutiérrez J, Builes C. Hipoparatiroidismo primario asociado a convulsiones. Acta Med Colomb. 2013;38(3):186-92. DOI: https://doi.org/10.36104/amc.2013.60

Román-González A, Zea-Lopera J, Londoño-Tabares S, Builes-Barrera C, Sanabria A. Pilares para el enfoque y tratamiento adecuado del paciente con hipoparatiroidismo. Iatreia. 2018;31(2):155-65. DOI: https://doi.org/10.17533/udea.iatreia.v31n2a04

Rastogi R, Beauchamp N, Ladenson P. Images in clinical endocrinology: Calcification of the basal ganglia in chronic hypoparathyroidism. J Clin Endocrinol Metab. 2003;88(4):1476-7. DOI: https://doi.org/10.1210/jc.2002-021804

Saleem S, Aslam H, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr’s syndrome: Literature review of current evidence. Orphanet J Rare Dis. 2013;8(1):1-9. DOI: https://doi.org/10.1186/1750-1172-8-156

Cassiani-Miranda CA, Herazo-Bustos M, Cabrera-González A, Cadena-Ramos I, Barrios-Ayola F. Psicosis asociada con síndrome de Fahr: informe de un caso. Rev Colomb Psiquiat. 2015;44(4):256-61. DOI: https://doi.org/10.1016/j.rcp.2015.03.006

Bollerslev J, Rejnmark L, Marcocci C, Shoback D, Sitges-Serra A, Van Biesen W, et al. European Society of Endocrinology clinical guideline: Treatment of chronic hypoparathyroidism in adults. Eur J Endocrinol. 2015;173(2):G1-20. DOI: https://doi.org/10.1530/EJE-15-0628

Creative Commons License

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

Copyright (c) 2021 Revista Colombiana de Endocrinología, Diabetes & Metabolismo

Downloads

Download data is not yet available.