engleski

EXUDATIVE RETINAL DETACHMENT IN A SEVERELY AFFECTED BOY FROM A FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY FAMILY

Objective: The accurate clinical and molecular analysis of 3 differently affected members of one two-generation facioscapulohumeral muscular dystrophy (FSHD) family may introduce elements for understanding disease's pathogenesis and its clinical intrafamilial variability. Background: FSHD is an autosomal dominant muscular dystrophy with variable age of onset, rate of progression, and marked inter-and intrafamilial heterogeneity in its clinical expression. Scarcity of detailed family and DNA data of published observations incitated us to present in details this family. Observation: The family consists in three differently affected members: the proband is a 17-year-old, clever, tall (190cm) and thin (51 kg) boy with extremely hypotrophic facial, shoulder girdle, upper arm and upper leg muscles, scoliosis, pectus excavatum, pronounced lumbar hyperlordosis, and end-stage Coats disease in the blind right eye since the age of 2 years. Even if he had infantile onset of muscular weakness, he is still ambulant. His 10 year-old brother has facial weakness since early infancy. At recent examination, he showed mild scapular winging and slight lumbar lordosis.He is active in sport and clinically in good condition. Minimally affected 39 year- old mother has facial asymmetry with right side muscular hypotrophy and slight frontal muscle weakness. In both sons, EMG pattern was myopathic, CK was twice normal. Fluorescein angiography of retina and audiometry have to be done ; DNA analysis with probe p13E-11(EcoR10 and Bln1) of both sons and parents is in progress. Discussion:This observation is in concordance with a worse clinical course in male than in female as observed in the litterature and demonstrates that retinal vasculopathy is also a very heterogeneous sign.

facioscapulohumeral muscular dystrophy; exudative retinal detachment

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