Neurodegeneration with brain iron accumulation: a differential diagnosis of cerebral palsy

Abstract

Abstract Background Brain iron accumulation neurodegeneration (NBIA) comprises a group of rare diseases characterized by deposits of this metal in brain structures. It presents a great variability of progression, which can be fast enough to lead the patient to death in the first years of life, or slow enough to be confused with non-progressive diseases. Case presentation Female, 19-year-old patient, cesarean delivery at 38 weeks of gestation. History of multiple sclerosis in a second-degree paternal aunt. Normal neuropsychomotor growth and development up to 11 months, when changes in gait began. After that, it got worse, with decreased muscle strength and falls, but it progressed so slowly that she was diagnosed with cerebral palsy, a non-progressive condition. At the age of 16, she underwent molecular analysis by exome sequencing, being diagnosed with the NBIA Phospholipase A2 (PLAN) variant. Currently doing physical therapy, hydrotherapy, occupational therapy and sertraline. Conclusions The report draws attention to the variability of the disease and the possibility of confusion with other diagnoses, which may delay proper management.