Neurodegeneration with cerebral iron 5 accumulation associated with BPAN beta-helix protein: a case report

Case presentation: K.D.S.P, male, 3 years old. The mother reports from the age of 6 months, child began with seizures characterized as generalized tonic-clonic, ocular eversion, lasting less than five minutes, at a frequency 2 seizures/day. Associated to this, he presents delayed neuropsychomotor development. Physical examination: patient did not present cervical control and was unresponsive stimulation, non-contactful. reflexes grade 3, symmetrical appendicular hyperreflexia. Due clinical story, sent neurology service, where computed tomography skull an electroencephalogram were done, which showed encephalic volumetric reduction, enlarging sulcus frontal convexity, bilateral parietal anterior portions lateral ventricles evidencing disorganization brain electrical activity, presence irritative activity in left central region, respectively. In addition, genetic panel for Epilepsy performed, identified Neurodegeneration iron accumulation 5 (NBIA5), associated β-helix protein (BPAN), mutation caused WDR45 domain located Xp11.23 X chromosome.