Calcificación cerebral familiar primaria: reporte de caso

Introduction

Primary familial brain calcification is a rare inherited neurological disorder characterized by calcifications in the stratopaliodental region. The clinical presentation is variable, the diagnosis is confirmed with imaging studies, genetic testing, and treatment is symptomatic.

Clinical case

A 49-year-old woman presented with blepharospasm, oromandibular movements, head tremor, rigidity of the right hemibody, memory failure and anxiety. Imaging study documented calcifications in the basal ganglia, cerebral white matter and cerebellum; the genetic test showed the mutation of the SLC20A2 gene.

Conclusions

Early diagnosis, adequate and timely management can improve the prognosis of the disease.