期刊
PEDIATRIC NEUROLOGY
卷 49, 期 5, 页码 374-378出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2013.06.022
关键词
Fukutin-related protein gene (FKRP); eye; brain; magnetic resonance imaging (MRI); congenital muscular dystrophy
BACKGROUND: Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 21. The involvement of the eyes is variable, with most patients having normal eye examination. OBJECTIVES: We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype resulting from a novel fukutin-related protein gene mutation in exon 4 and compare these with other reported patients with fukutinrelated protein gene mutation. METHODOLOGY: All patients with reported fukutin-related protein gene mutations who had eye involvement were included. Their clinical features, brain magnetic resonance imaging, and eye findings were compared with our patient. CONCLUSIONS: Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.A1a187fs) represents one of the most severe phenotypes described in regard to eye involvement.
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