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.
hypoparathyroidism
Síndrome de Fahr e hipoparatiroidismo. Fahr syndrome and hypoparathyroidism.
Calcificaciones ganglio basales simétricas bilaterales (Enfermedad de Fahr) en pediatría: Reporte de caso. Bilateral symmetric basal ganglia calcifications (Fahr’s disease) in pediatrics: Case report
Introduction: Fahr syndrome is defined as the presence of predominantly bilateral symmetric calcifications in the basal ganglia (mainly striated nucleus). It is considered primary when the etiology is genetic, which is also known as Fahr’s disease; and secondary if metabolic alterations, endocrine alterations, exposure to radiation, infections, vascular disorders, mitochondrial diseases or others, are found, being the most frequent: hypoparathyroidism and pseudo-hypoparathyroidism. Fahr’s disease is a pathology of genetic origin, rare in pediatrics, that is associated with movement, neuropsychiatric and cognitive disorders.
Clincal case: We present the case of a 9-year-old boy with evidence of bilateral symmetric basal ganglia calcifications on brain computed tomography (CT) scanning. In the literature there are very few descriptions of this finding in pediatrics. Clinically, the child presented WITH epilepsy, right hand dystonia, mild cognitive deficit and progressive impairment of speech and gait. He was clinically diagnosed as a Fahr’s disease, given the abscense of other metabolic or endocrinological alterations, without genetic studies, and treatment with Levodopa-carbidopa was started for the management of dystonia with clincal evidence of improvement, an a comprehensive rehabilitation program was indicated.
Conclusions: The finding of bilateral symmetric basal ganglion calcifications should lead to rule out endocrinological or metabolic alterations; In the event that they do not occur, all possible related manifestations in the cognitive, psychiatric, motor, speech and other fields should be handled in a comprehensive manner.
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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.
