| Abstract [eng] |
Early diagnosis of rare diseases presents numerous challenges, particularly when diagnosing the ultra-rare Fahr’s syndrome/disease, characterized by highly heterogeneous clinical manifestations. The aim of this thesis is to discuss an extremely rare clinical case where Fahr’s syndrome/disease was suspected in a patient with acute psychosis and other neuropsychiatric symptoms, and to conduct a literature review of this pathology. Methods include the clinical case description, as well as the analysis and synthesis of scientific literature. Objectives of this thesis: to present the patient’s life and medical history, psychiatric hospitalizations, the post-discharge period, assessment of mental status and physical condition, test results, treatment course and its response; to evaluate the clinical case data and substantiate suspected organic psychosis, suggesting a change in the psychiatric diagnosis if Fahr’s disease or syndrome is confirmed; to review the scientific literature on the etiology, diagnostic methods, clinical symptoms and treatment options of Fahr’s syndrome/disease; to present other clinical cases described in the literature where Fahr’s syndrome/disease manifested neuropsychiatric symptoms, and to compare them with the presented one. Conclusions. A clinical case was presented in which the patient developed psychosis of organic etiology. The diagnosis was confirmed by neuroimaging performed during the second hospitalization, when the suspicion of organic psychosis was raised by rapidly developing extrapyramidal symptoms from low doses of antipsychotics and the absence of family psychiatric history. Bilateral, symmetrical basal ganglia and cerebellar calcifications led to suspicion of Fahr’s syndrome or disease. Further evaluation is ongoing to determine whether the calcification is primary or secondary, with genetic test results awaited. The finding of basal ganglia calcification suggests it triggered psychosis, supporting a clinical diagnosis change to F06 registry pathology. Fahr’s syndrome/disease is an ultra-rare neurodegenerative condition with a broad spectrum of clinical symptoms; therefore, diagnosis requires additional tests alongside clinical assessment. Diagnostics rely on computed tomography, genetic testing for primary Fahr’s disease, and laboratory evaluation to rule out secondary causes. Treatment of Fahr’s syndrome is primarily focused on eliminating etiological factors and symptomatic management. Given the elevated risk of adverse drug reactions in Fahr’s syndrome/disease, it is recommended to avoid typical antipsychotics, reduce doses of atypical antipsychotics, and closely monitor for extrapyramidal symptoms. Comparison with other published cases revealed common features: an average age of 40–49 years, basal ganglia calcifications on neuroimaging, neurological symptoms and movement disorders, with a range of psychiatric disorders, including affective, anxiety, and psychotic, accompanied by pronounced thought and behavioral disorders. |
