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.