Fahr's disease presenting with ischemic stroke in young adult: a case report of rare disease with unique presentation.

INTRODUCTION AND

IMPORTANCE

Fahr's disease, or bilateral striopallidodentate calcinosis, is a rare autosomal dominant neurological disorder characterized by bilateral symmetrical calcifications in the basal ganglia, thalamus, hippocampus, dentate nucleus, cerebral cortex, and cerebellar subcortical white matter. Typically presenting with cognitive, psychiatric, and extrapyramidal symptoms in middle age, its presentation as an acute ischemic stroke is exceedingly rare. This case report presents this unusual occurrence.

CASE PRESENTATION: A 32-year-old female presented with sudden onset weakness in her left lower limb, slurred speech, and facial deviation to the right. Over the next 2 days, the weakness extended to her left upper limb. Neurological examination revealed left-sided lower motor neuron lesion of the facial nerve, upper motor neuron signs, mild left-sided motor weakness, and cerebellar signs. Non-contrast computed tomography (CT) and magnetic resonance imaging (MRI) imaging showed extensive symmetrical calcifications in the basal ganglia, thalamus, dentate nucleus, and other deep gray matter structures, along with acute ischemic changes in the right corona radiata and internal capsule. All metabolic and endocrine evaluations were normal.

DISCUSSION: Fahr's disease is associated with abnormal calcium deposition in the brain. The underlying mechanisms for the calcifications remain unclear but may involve disrupted calcium metabolism and alterations in the blood-brain barrier, contributing to a cycle of vascular injury. The coexistence of acute ischemic stroke in this context is rare and may result from microinfarcts due to calcification in small vessels.

CONCLUSION

This case illustrates that acute ischemic stroke can occur as a manifestation of Fahr's disease. CT scan plays vital role in establishing diagnosis by revealing the symmetrical calcification pattern in the basal ganglia, thalami, and cerebellar dentate nucleus. Establishing the association between Fahr's disease and cerebrovascular disease warrants further studies.