title: Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.
abstract: β-propeller protein-associated neurodegeneration (BPAN) is a recently identified X-linked dominant form of neurodegeneration with brain iron accumulation caused by mutations in the WDR45 gene. BPAN commonly presents as global developmental delay in childhood with rapid onset of parkinsonism and dementia in early adulthood and associated pathognomonic changes seen on brain MRI. In this case report, we present a pediatric patient with mild cognitive delay and pathognomonic MRI changes indicative of BPAN preceding neurologic deterioration who is found to have a novel de novo mutation in the WDR45 gene.
authors.affiliation: Division of Emergency Medicine.
authors.forename: Michelle
authors.initials: M
authors.lastname: Long
authors.affiliation: Department of Medical Imaging.
authors.forename: Nishard
authors.initials: N
authors.lastname: Abdeen
authors.affiliation: Department of Pediatrics, Metabolic Unit, and.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Geraghty
authors.affiliation: Departments of Molecular and Medical Genetics and Neurology, Oregon Health & Science University, Portland, Oregon.
authors.forename: Penelope
authors.initials: P
authors.lastname: Hogarth
authors.affiliation: Departments of Molecular and Medical Genetics and Neurology, Oregon Health & Science University, Portland, Oregon.
authors.forename: Susan
authors.initials: S
authors.lastname: Hayflick
authors.affiliation: Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada; and svenkateswaran@cheo.on.ca.
authors.forename: Sunita
authors.initials: S
authors.lastname: Venkateswaran
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000235:genetics* / Q000473:pathology
chemical_list: D002352:Carrier Proteins; C578284:WDR45 protein, human