Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.
作者： M. Long , N. Abdeen , M. T. Geraghty , P. Hogarth , S. Hayflick
关键词:
摘要: β-propeller protein-associated neurodegeneration (BPAN) is a recently identified X-linked dominant form of with brain iron accumulation caused by mutations in the WDR45 gene. BPAN commonly presents as global developmental delay childhood rapid onset parkinsonism and dementia early adulthood associated pathognomonic changes seen on MRI. In this case report, we present pediatric patient mild cognitive MRI indicative preceding neurologic deterioration who found to have novel de novo mutation
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