Abstract:

We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. A muscle biopsy showed active necrotic and regenerative processes. These distinct clinical findings prompted a mutational analysis of the lamin A (LMNA) gene, and we identified a novel heterozygous mutation in LMNA (c.1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head.

日本語要旨:

LMNA新規変異(c 1330-1338dup9)によるdrop headを呈した先天性ミオパチー症例を報告した。興味深いことに本症例は頭部MRIで原因不明の白質の高信号域が認められた。LMNA変異による先天性筋ジストロフィーはアジア人では初めての報告である。歩行可能であるにもかかわらず、頚部筋力低下の著しい場合、LMNA変異検索を行う必要がある。