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Pediatrics. 2015 Sep;136(3):e714-7. doi: 10.1542/peds.2015-0750. Epub 2015 Aug 3.

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

Author information

  • 1Division of Emergency Medicine.
  • 2Department of Medical Imaging.
  • 3Department of Pediatrics, Metabolic Unit, and.
  • 4Departments of Molecular and Medical Genetics and Neurology, Oregon Health & Science University, Portland, Oregon.
  • 5Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada; and svenkateswaran@cheo.on.ca.

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.

PMID:
26240209
DOI:
10.1542/peds.2015-0750
[PubMed - indexed for MEDLINE]
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