Objective: To describe a case of PFBC with atypical clinical onset.

Background: Primary Familial Brain Calcification (PFBC), also known as Fahr’s Disease, is a rare neurological disorder characterized by abnormal calcified brain deposits, particularly in the basal ganglia and cerebellum, which are best detected by a brain CT-scan. It’s a genetic condition most commonly inherited as an autosomal dominant trait. A negative genetic test does not rule out PFBC diagnosis as 50% of patients do not present with mutation in any of the six known causative genes. PFBC must be differentiated by secondary forms of brain calcification (i.e. metabolic, infectious, toxic) and from other inherited diseases.

Method: We here describe a PFBC case with an atypical onset in the context of an infectious state.

Results: A 33-year-old man with no relevant medical history presented at the emergency department with fever, altered mental status and agitation. Neurological examination revealed generalized choreo-athetoid movements. A brain CT scan showed bilateral calcification in cerebellum, thalami and basal ganglia. Blood tests showed elevated WBC and CRP. A brain MRI showed a DWI and Gad+ hyper-intense area in the left parieto-occipital cortical region. Glucose levels, proteins and WBC were normal on CSF and microbiological analyses turned out to be negative; no oligoclonal bands were detected. Extensive blood screening for neuronal auto-antibodies was also negative. To rule out an infectious etiology an echocardiography was performed, revealing an aortic valve vegetation which required cardiac surgery. Despite negative cultural exams, a diagnosis of possible endocarditis was made. After the surgical procedure and antibiotic therapy the choreiform movements disappeared. At a nine month follow-up visit, he presented with mild chorea in the lower limbs and mild postural tremor in the upper limbs. Genetic tests for PFBC resulted negative.

Conclusion: The acute onset of chorea with altered mental status in the context of an infectious state pointed to an autoimmune or parainfectious etiology; however, CSF analysis did not reveal alterations. After heart surgery and antibiotics, the movement disorder subsided. We speculate that clinical onset of the disease was facilitated by the infection acting as a trigger, representing an atypical presentation of PFBC.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/an-atypical-onset-of-primary-familial-brain-calcification-a-case-report/