Calcificaciones simétricas en ganglios basales. Enfermedad de Fahr en un paciente asintomático: a propósito de un caso clínico

Fahr’s disease, also known as idiopathic basal ganglia calcification is a rare neurologic condition characterized by bilateral and symmetric calcium deposits in deep brain structures such as the basal ganglia, thalamus, and cerebellum, and may also involve the cerebral cortex. The primary form, referred to as primary familial brain calcification, is typically inherited in an autosomal dominant pattern and has been associated with mutations in genes such as SLC20A2, PDGFB, and PDGFRB, which are involved in phosphate and calcium homeostasis and in the integrity of the blood-brain barrier. On the other hand, secondary forms of Fahr’s disease may result from metabolic disorders, particularly hypoparathyroidism, pseudohypoparathyroidism, and chronic disturbances in calcium and phosphorus metabolism. Although it may present with motor (parkinsonism, dystonia, chorea), cognitive (progressive dementia), or psychiatric symptoms (mood disorders, psychosis), a significant number of patients remain clinically silent and are diagnosed incidentally through neuroimaging. In the reported case, an adult woman was evaluated for occasional headaches, with no clinically relevant personal or family history and no objective neurologic abnormalities. Cranial computed tomography (CT) revealed extensive calcifications in the basal ganglia and subcortical white matter. Metabolic testing was normal, and genetic analysis identified a pathogenic variant in the SLC20A2 gene, confirming the diagnosis of primary Fahr’s disease. This case highlights the importance of considering this entity in the differential diagnosis of suggestive radiologic findings, even in the absence of overt symptoms. Regular clinical follow-up, neuropsychological assessment, and genetic counseling for family members are essential cornerstones of comprehensive care, given the potential for delayed onset of clinical manifestations.