2026 ECNP Congress
EP02-2003Bipolar disorder with fahr syndrome: a case with hypoparathyroisim and basal ganglia calcifications
INTRODUCTION
Fahr syndrome is a rare neurological disorder characterized by abnormal, symmetric calcifications in various brain regions, most commonly the basal ganglia, but also the thalamus and hippocampus. It may present with a combination of neurological and psychiatric symptoms.[1,2]The most common symptoms in adults include parkinsonism, dystonia, ataxia, chorea, and other extrapyramidal syndromes. Some patients may also present with seizures and pyramidal signs. Psychiatric manifestations frequently include cognitive impairment, schizophrenia-like psychosis, hallucinations, delusions, anxiety, mania, depression, body schema disturbances, and personality changes.[3]We present a case of bipolar disorder and Fahr syndrome, focusing on clinical presentation and management.
CASE
A 34-year-old married woman with an 8-year history of bipolar disorder was admitted to the inpatient psychiatric unit due to suicide risk. Her first manic episode occurred 8 years prior, at which time she was also diagnosed with hypoparathyroidism. A computed tomography (CT) scan performed during that period revealed abnormal symmetric calcifications in the basal ganglia. She had previously been treated with long-acting injectable aripiprazole(LAI) and valproic acid during which she developed aripiprazole-associated oculogyric crisis. On psychiatric evaluation, she demonstrated decreased psychomotor activity and impaired self-care. Her mood was depressed, speech was slowed, and thought content was notable for ruminative ideas related to marital problems. Laboratory findings revealed hypocalcemia (6.52 mg/dL) and low parathyroid hormone levels (9 ng/L), consistent with hypoparathyroidism. A CT scan performed one day prior to admission to exclude organic pathology showed symmetric calcifications in the bilateral basal ganglia and cerebral hemispheres, consistent with Fahr syndrome. Cariprazine was selected for psychiatric treatment due to prolonged QT interval on ECG. Calcium replacement therapy was initiated, and serum calcium levels normalized (9.29 mg/dL) prior to discharge. After 20 days of inpatient treatment, her psychiatric symptoms significantly improved, and she was discharged on cariprazine and valproic acid.
DISCUSSION
This case highlights the potential for misdiagnosis, particularly in younger patients without a known family history, where Fahr syndrome may be mistaken for a primary psychiatric disorder such as bipolar disorder. Even when a primary psychiatric illness is present, comorbid organic conditions may exacerbate clinical severity. From a clinical perspective, identifying abnormalities in calcium metabolism—particularly hypoparathyroidism—is crucial, as correction represents the only causative treatment that can significantly improve symptoms and prognosis In this case, the patient had marked hypocalcemia accompanied by depressive symptoms. The relationship between calcium metabolism and mood disorders, particularly depression, has been demonstrated in previous studies[4] Additionally, increased sensitivity to extrapyramidal side effects in Fahr syndrome should be considered when selecting antipsychotic treatment.
CONCLUSION
This case emphasizes the importance of ruling out organic etiologies in patients presenting with mood symptoms. Neuroimaging and endocrinological evaluation were essential in identifying the underlying condition in this patient. Early recognition plays a critical role in optimizing treatment strategies and improving clinical outcomes.
References
- Saleem, S., Aslam, H. M., Anwar, M., Anwar, S., Saleem, M., Saleem, A., & Rehmani, M. A. K., 2013. Fahr’s syndrome: A literature review of current evidence. Orphanet Journal of Rare Diseases 8, 156. https://doi.org/10.1186/1750-1172-8-156
- Gülsün, M., Baykız, A. F., Kabataş, S., & Belli, H., 2006. Fahr syndrome: Three cases presenting with psychiatric signs. European Journal of General Medicine 3(1), 35–40. https://doi.org/10.29333/ejgm/82361
- Jaworski, K., Styczyńska, M., Mandecka, M., Walecki, J., & Kosior, D. A., 2017. Fahr syndrome—An important piece of a puzzle in the differential diagnosis of many diseases. Polish Journal of Radiology 82, 490–493. https://doi.org/10.12659/PJR.902024
- Rosa, R. G., Barros, A. J. S., de Lima, A. R. B., Lorenzi, W., da Rosa, R. R., Zambonato, K. D., & Alves, G. V., 2014. Mood disorder as a manifestation of primary hypoparathyroidism: A case report. Journal of Medical Case Reports 8, 326. https://doi.org/10.1186/1752-1947-8-326