Introduction: Fahr’s disease is a rare pathology characterized by brain calcinosis syndrome, usually found incidentally and late in individuals with neurological and psychiatric symptoms, with these manifestations from an early age. It is a genetic disorder of unclear etiology of autosomal dominant behavior and can be a ssociated with metabolic, hereditary, or acquired etiology.
Objective: To present the case of a patient with Fahr’s disease treated in a second-level regional hospital in a rural area of central Andean Colombia.
Clinical case: This is a 54-year-old woman who consulted for the first seizure episode, with a significant pathological history of schizophrenia and a family history of maternal Alzheimer’s. Simple cerebral computed tomography was performed, which reported multiple periventricular calcifications and symmetric calcifications at the level of the basal ganglia with hypocalcemia and hypoparathyroidism.
Conclusions: Fahr’s disease is a rare entity, however, it is important to suspect and know about it early; Diagnostic images are essential for detection, and the search for differential diagnoses or associated metabolic causes is important for treating these patients in a timely and adequate manner.
calcificaciones
Síndrome de Fahr e hipoparatiroidismo. Fahr syndrome and hypoparathyroidism.
Palabras clave: calcificaciones,
Convulsiones,
hipoparatiroidismo,
reporte de caso,
Síndrome de Fahr,
Calcificaciones en Ganglios de la Base en un Caso de Hipoparatiroidismo Primario. Basal Ganglia Calcification In A Case Of Primary Hypoparathyroidism
Hypoparathyroidism is characterized by an insufficient production of parathyroid hormone, resulting in hypocalcemia and hyperphosphatemia, that without proper treatment can lead to multiple complications in different organs. We present the case of a patient with primary hypoparathyroidism, with basal ganglia calcifications as a complication of the disease and the therapeutic challenge it presents to improve the symptoms and quality of life.