Novel WDR45 mutation and pathognomonic BPAN imaging in a young female with mild cognitive delay

Michelle Long, Nishard Abdeen, Michael T. Geraghty, Penelope Hogarth, Susan Hayflick, Sunita Venkateswaran

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e714-e717
JournalPediatrics
Volume136
Issue number3
DOIs
StatePublished - Sep 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint

Dive into the research topics of 'Novel WDR45 mutation and pathognomonic BPAN imaging in a young female with mild cognitive delay'. Together they form a unique fingerprint.

Cite this