When stones cloud the mind: A fatal case of Fahr’s disease

Dear Editor, Fahr’s disease is a neurodegenerative condition characterized by idiopathic bilateral calcification of the basal ganglia, thalami, and other brain regions.[1] Presentations can include movement disorders, cognitive decline, psychiatric symptoms, and seizures.[2] It remains a clinical-radiological diagnosis, typically confirmed through imaging.[3] Psychiatric symptoms often precede the diagnosis, leading to misdiagnosis of a primary psychiatric illness, which may delay precise identification and worsen the prognosis of the illness.[4] A 20-year-old male, who had been managed as a case of schizophrenia for one year and seizure disorder for five years, was admitted following a generalized tonic-clonic seizure lasting 10–15 minutes, with bowel and bladder incontinence and isolated episodes of fever. He had been on Tab Olanzapine for the past year and Inj. Paliperidone once weekly for over one month before admission. He was clinically diagnosed with breakthrough seizures and aspiration pneumonia and was started on antibiotics and antiepileptics, while his anti-psychotics were continued by the medical team. During the hospital stay, the patient was observed to have involuntary movements of both upper and lower limbs, associated with hypertonia and agitation, suggestive of myoclonus-dystonia, along with disorganized speech. He was evaluated by the psychiatry team through a consultation-liaison referral. Considering his persistent fever, generalized rigidity, and elevated creatine phosphokinase level (CPK: 1663 IU/L), neuroleptic malignant syndrome (NMS) was strongly suspected, and all antipsychotic medications were discontinued. By day 2, as his condition worsened, he was shifted to the ICU and started on phenytoin infusion and invasive mechanical ventilation. Chest X-ray showed features of aspiration pneumonia. magnetic resonance imaging (MRI) of the brain revealed extensive calcifications in the supratentorial and infratentorial neuroparenchyma, subcortical white matter, bilateral frontal-parietal lobes, basal ganglia, thalami, and left cerebellar hemisphere—features consistent with Fahr’s disease. Electroencephalography (EEG) showed an abnormal slow-wave background. Cerebrospinal fluid (CSF) cytology, biochemistry, CSF cultures, and tropical fever panel were negative. During the second week of hospital admission, his condition further deteriorated with evidence of multi-organ dysfunction. Subsequently, he went into cardiac arrest and, despite all resuscitative measures, succumbed to his complications. Fahr’s disease presents a diagnostic challenge due to its varying neuropsychiatric manifestations, which often precede definitive imaging findings by years, with calcified deposits not limited to the basal ganglia. Psychiatric symptoms, including psychosis, and other movement abnormalities result from the disruption of cortical–subcortical pathways by calcifications. Recurrent seizures, neuroleptic use, and subsequent development of the NMS complicate management, as many symptoms overlap with disease progression or medication side effects, highlighting the need for a high degree of clinical suspicion and thorough evaluation. Extrapyramidal symptoms are present in most cases of Fahr’s syndrome and can be the first manifestation of the disease; rigidity, bradykinesia, and cerebellar signs may also be observed.[5] This case report highlights the importance of considering Fahr’s disease in a young patient presenting with atypical neuro-psychiatric symptoms when seizures and movement abnormalities coexist. Early neuroimaging should be considered in patients presenting with psychiatric manifestations, seizures, extrapyramidal signs, or cognitive decline for timely diagnosis and management. Author contributions All authors contributed to all stages of manuscript preparation. The final manuscript was approved by all authors Financial support and sponsorship Nil. Conflicts of interests There are no conflicts of interest. Data availability Data can be made available upon reasonable request. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.