Fahr`s Syndrome Accompanied by Psychotic Symptoms and Memory Impairment

Yıl 2025, Cilt: 15 Sayı: EK-1, 112 - 116, 20.10.2025

Beyazit Garip , Begüm Arıtan

Öz

This case report highlights the importance of considering Fahr’s syndrome in the differential diagnosis of neuropsychiatric disorders and underscores the necessity of a comprehensive metabolic evaluation in affected patients. Fahr’s syndrome, also known as Primary Familial Brain Calcification (PFBC), is a rare disorder characterized by bilateral, symmetric intracranial calcifications, neurodegenerative changes, and disturbances in calcium-phosphorus metabolism. A patient presenting with psychotic symptoms and cognitive impairment is described, with an unusual finding of elevated urinary copper levels despite normal blood calcium levels. The case demonstrated typical features of Fahr’s syndrome, including bilateral intracranial calcifications and cognitive dysfunction, along with potential disturbances in copper metabolism. This finding highlights the complexity of metabolic abnormalities associated with the condition and the importance of a thorough diagnostic approach. The report emphasizes the need to consider Fahr’s syndrome in patients with neuropsychiatric symptoms, particularly those with cognitive impairment and psychotic features. The presence of elevated urinary copper levels in the absence of blood calcium abnormalities suggests the necessity of a comprehensive metabolic assessment. Early recognition and appropriate diagnostic work-up are crucial for guiding treatment and management, as Fahr’s syndrome is often overlooked in the presence of more common neuropsychiatric disorders.

Anahtar Kelimeler

Fahr syndrome , primary familial brain calcification , neurodegeneration , calcium; psychosis; cognitive impairment

Kaynakça

• 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;8:156.
• 2. Manyam BV. What is and what is not “Fahr’s disease”. Parkinsonism Relat Disord. 2005;11(2):73–80.
• 3. Hoque MA, Siddiqui MR, Arafat Y, Khan SU, Rahman KM, Mondol BA, et al. Fahr’s disease: a very rare cause of epilepsy. Mymensingh Med J. 2010;19(1):127–9.
• 4. De Pieri M, Poglia G, Bartolomei J. Case report:10 years followup of psychosis due to Fahr’s disease complicated by a left temporal stroke. Front Psychiatry. 2023;14:1283241.
• 5. Supit VD, Kurniawan D, Fatimah E. Fahr syndrome and neurological manifestations in hypoparathyroidism patients. Radiol Case Rep. 2024;19(4):1248–53.
• 6. Okumuş B, Hocaoğlu C. Fahr syndrome followed for many years with the diagnosis of schizophrenia: a case report. Psychiatry Behav Sci. 2019;9(1–2):45–9.
• 7. Wazir MH, Ali Y, Mufti AZ, Ahmad A, Ahmad H. Fahr‘s syndrome: a rare case presentation. Cureus. 2023;15(10):e47812.
• 8. Haider A, Danish A, Khan A, Rehman AU, Latif MH, Basit SA, et al. Fahr’s syndrome with hypoparathyroidism in a patient with schizophrenia and iron deficiency anemia: a case report. Clin Case Rep. 2025;13(1):e70093.
• 9. Sieffien W, Sorial S, Ure R, Golts M. Psychosis in Fahr syndrome: a case report. J ECT. 2025;41(1):e1–3.
• 10. Jaworski K, Styczyńska M, Mandecka M, Walecki J, Kosior DA. Fahr syndrome - an important piece of a puzzle in the differential diagnosis of many diseases. Pol J Radiol. 2017;82:490–3