Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay

作者：Long Michelle; Abdeen Nishard; Geraghty Michael T; Hogarth Penelope; Hayflick Susan; Venkateswaran Sunita^*

来源：Pediatrics, 2015, 136(3): E714-E717.

DOI：10.1542/peds.2015-0750

beta-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.

• 出版日期2015-9