Fahr's disease with neuropsychiatric symptoms and intermittent course: a case report

Abstract

Background: Fahr's disease is a rare neurodegenerative disorder with brain calcifications and neuropsychiatric symptoms. It can have variable phenotypic expression and intermittent symptomatology, making diagnosis challenging. Case presentation: The case involves a young woman who presented with psychosis and confusion. The patient had no previous psychiatric history, although approximately two years prior, she encountered multiple episodes of tonic-clonic seizures, which resolved spontaneously without the need for pharmacological intervention. Extensive investigations ruled out organic causes, leading to the diagnosis of Fahr's disease based on bilateral symmetrical brain calcifications observed on the CT scan. Treatment included antipsychotics and anticonvulsants. Conclusion: This case highlights the importance of considering Fahr's disease as a differential diagnosis in patients with new-onset neuropsychiatric symptoms. The case also explores the atypical early onset and intermittent nature of symptoms in the absence of a positive family history, highlighting the complexity of Fahr's disease. A multidisciplinary approach and regular follow-up are crucial for optimizing patient care and monitoring disease progression. Further research is needed to enhance our understanding of Fahr's disease and develop standardized treatment strategies for this rare condition.