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Fahr Syndrome Sebagai Akibat Dari Hipoparathyroidism: Laporan Kasus

Abstract

Background: Fahr's syndrome is a rare disease, with a prevalence of less than one per one million population, characterized by calcification in the basal ganglia area. This disease can be caused primarily by genetic mutations or secondary by other systemic diseases such as hypoparathyroidism.

Case presentation: This report tells of a 48-year-old woman who complained of seizures accompanied by dysarthria, balance disturbances, muscle weakness, and a history of thyroid gland removal surgery at a young age. The results from the MMSE indicate the possibility of cognitive impairment. A brain CT scan showed bilateral symmetrical extensive calcifications in the right and left perivascular, right and left cerebellum, and right and left lateral ventricles. TSH was not tested due to restrictions on existing facilities.

Conclusion: Fahr's syndrome was found based on findings of motor disturbances, neuropsychiatry, and central nervous system disorders accompanied by the discovery of a CT scan that showed calcifications in the brain. The prognosis of this disease cannot be determined, and it is necessary to evaluate periodically to assess the progress of this disease.

 

Pendahuluan: Sindrom Fahr merupakan penyakit langka, dengan prevalensi kurang dari satu per satu juta penduduk, ditandai dengan kalsifikasi di daerah ganglia basalis. Penyakit ini dapat disebabkan terutama oleh mutasi genetik atau sekunder oleh penyakit sistemik lain seperti hipoparatiroidisme.

Presentasi kasus: Laporan ini menceritakan seorang wanita berusia 48 tahun yang mengeluhkan kejang disertai disartria, gangguan keseimbangan, kelemahan otot, dan riwayat operasi pengangkatan kelenjar tiroid di usia muda. Hasil MMSE menunjukkan kemungkinan adanya gangguan kognitif. CT scan otak menunjukkan kalsifikasi luas simetris bilateral pada perivaskular kanan dan kiri, otak kecil kanan dan kiri, serta ventrikel lateral kanan dan kiri. TSH tidak diuji karena keterbatasan fasilitas yang ada.

Kesimpulan: Sindrom Fahr ditemukan berdasarkan temuan gangguan motorik, neuropsikiatri, dan gangguan sistem saraf pusat disertai dengan hasil CT scan yang menunjukkan adanya pengapuran pada otak. Prognosis penyakit ini belum dapat ditentukan, sehingga perlu dilakukan evaluasi secara berkala untuk menilai perkembangan penyakit ini.

References

  1. 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. 2013;8(1):1–9.
  2. Manyam B V. What is and what is not ‘Fahr’s disease.’ Park Relat Disord. 2005;11(2):73–80.
  3. Batur A TÖ. Fahr’s disease associated with anaplastic ependymoma: a case report and review of the literature. Br J Neurosurg. 2020;37(3):1–4.
  4. Amisha, Fnu & Munakomi S. Fahr Syndrome. StatPearls; 2022.
  5. Modrego PJ, Mojonero J, Serrano M FN. Fahr’s syndrome presenting with pure and progressive presenile dementia. Neurogical Sci. 2005;26:367–9.
  6. Donzuso G, Mostile G, Nicoletti A, Zappia M. Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features. Neurol Sci. 2019;40(11):2251–63.
  7. Alam ST, Aswani Y, Anandpara KM, Hira P. CT findings in Fahr’s disease. BMJ Case Rep. 2015;2015(D):2014–5.
  8. Nygaard B. Hypothyroidism (primary) Endocrine and metabolic disorders Hypothyroidism ( primary ). Clin Evid (Online). 2014;(September 2009):1–7.
  9. Dindi L, Surya A, Kadek N, Darmasih A. Gambaran Radiologis Sindroma Fahr pada Pasien Post Tiroidektomi: Sebuah Laporan Kasus. Intisari Sains Medis. 2023;14(2):825–8.
  10. Goswami R, Sharma R, Sreenivas V, Gupta N, Ganapathy A DS. Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism. Clin Endocrinol (Oxf). 2012;77(2):200–6.
  11. Prasetya D. Fahr’s syndrome in teenage girls with systemic lupus erythematosus: A case report. JKKI J Kedokt dan Kesehat Indones. 2020;11(3):290–4.

How to Cite

Sunaryo, C., Sunaryo, U. ., & Sudarmadi, I. . (2024). Fahr Syndrome Sebagai Akibat Dari Hipoparathyroidism: Laporan Kasus. Medicina, 55(1), 11–14. https://doi.org/10.15562/medicina.v55i1.1291

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