Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 12, Pages 3095-3099Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36779
Keywords
BPAN; Rett syndrome; WDR45; whole exome sequencing
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Funding
- Ministry of Health, Labour and Welfare, Japan
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Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with -propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. BPAN has a distinct brain magnetic resonance imaging (MRI) pattern showing iron deposition in the globus pallidus and substantia nigra. To date, many of the BPAN patients have been diagnosed in adulthood. Here, we report on 6-year-old girl with BPAN diagnosed by whole exome sequencing. She showed Rett syndrome-like manifestations, a peculiar facial appearance and mildly elevated serum enzymes. Brain iron accumulation was detected by T2*-weighted MRI and T2-star weighted angiography (SWAN). This unique combination of clinical and neuroimaging features may be helpful for early diagnosis of BPAN. (c) 2014 Wiley Periodicals, Inc.
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