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

ABSTRACT

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. In this report, we describe a young female patient presenting with symptoms of psychosis and confusion, which could be indicative of a delirium superimposed on the cerebral vulnerability associated with Fahr’s disease. Notably, about two years prior, she experienced multiple episodes of tonic-clonic seizures that spontaneously resolved without pharmacological intervention. She had no previous psychiatric history. Following comprehensive investigations, other organic causes were ruled out, and Fahr’s disease was diagnosed based on bilateral symmetrical brain calcifications seen on a head CT scan. Her treatment regimen encompassed antipsychotics and anticonvulsants. 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.

KEYWORDS:

• Case report
• Fahr’s disease
• psychotic disorders
• basal ganglia diseases
• diagnostic errors

Disclosure statement

No potential conflict of interest was reported by the author(s).

Ethics approval and consent to participate

The authors affirm their adherence to the principles outlined in the Declaration of Helsinki. Strict measures were implemented to ensure the anonymization of personal identifiers. The patient provided written informed consent for her participation in this study, as well as for the publication of the case details and CT brain images.

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Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

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Funding

The author(s) reported there is no funding associated with the work featured in this article.