Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient

Abstract Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare genetic disorders characterized by progressive extrapyramidal and other neurological symptoms due to focal iron accumulation in the basal ganglia.1 β-Propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of NBIA caused by heterozygous variants in WDR45 (OMIM: *300526) at Xp11.23. We report the clinical neurophysiological and neuro-imaging findings of a new subtype of BPAN in a 6 year-old female patient, who was identified to have a large de novo WDR45 deletion who presented in the first year of life with early onset global developmental delay, severe cognitive impairment, generalized hypotonia and a corticosteroid responsive epileptic encephalopathy.