Breningstall G N, Grover W D, Barbera S, Marks H G
Department of Pediatrics, St. Christopher's Hospital for Children, Philadelphia, PA.
Neurology. 1988 Aug;38(8):1271-2. doi: 10.1212/wnl.38.8.1271.
We report a unique presentation of X-linked recessive dystrophy as neonatal rhabdomyolysis. There was induration of the proximal musculature in an otherwise well neonate and striking CK elevation, without myoglobinuria. Muscle biopsy at age 1 year showed dystrophic alterations, and X chromosome analysis showed a deletion within or adjacent to the Duchenne/Becker locus.
我们报告了一例X连锁隐性营养不良症表现为新生儿横纹肌溶解症的独特病例。在一名其他方面健康的新生儿中,近端肌肉组织出现硬结,肌酸激酶显著升高,但无肌红蛋白尿。1岁时的肌肉活检显示有营养不良性改变,X染色体分析显示在杜兴/贝克肌营养不良基因座内或其邻近区域存在缺失。