TY - JOUR
T1 - Novel WDR45 mutation and pathognomonic BPAN imaging in a young female with mild cognitive delay
AU - Long, Michelle
AU - Abdeen, Nishard
AU - Geraghty, Michael T.
AU - Hogarth, Penelope
AU - Hayflick, Susan
AU - Venkateswaran, Sunita
N1 - Publisher Copyright:
© 2015 by the American Academy of Pediatrics.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - 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.
AB - 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.
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U2 - 10.1542/peds.2015-0750
DO - 10.1542/peds.2015-0750
M3 - Article
C2 - 26240209
AN - SCOPUS:84940848360
SN - 0031-4005
VL - 136
SP - e714-e717
JO - Pediatrics
JF - Pediatrics
IS - 3
ER -