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首页> 外文期刊>Neuromuscular disorders: NMD >Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood
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Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood

机译：先天性4型脂肪营养不良伴肌肉营养不良：儿童早期的临床和病理表现

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摘要

A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented in infancy with delay in motor milestones and a persistent elevation of CK. There was no associated mental retardation. He was followed up to 3. years and 11. months; he had a homozygous c.696_697insC mutation in polymerase I and transcript release factor (PTRF). He started to walk at 2. years and 6. months although he did not have mental retardation. Insulin resistance appeared at 3. years and 11. months of age. PTRF immunostaining positivity was absent in the muscle but caveolin-3 was preserved in the sarcolemma at 16. months of age. Secondary deficiency of caveolins may be closely associated with disease progression.
机译：一例先天性4型脂肪营养不良伴肌肉营养不良的男孩在婴儿期出现，运动里程碑延迟，CK持续升高。没有相关的智力障碍。他被随访了3年11个月。他在聚合酶I和转录释放因子（PTRF）中具有纯合的c.696_697insC突变。尽管没有智力障碍，他从2岁6个月开始走路。胰岛素抵抗出现在3.岁和11.个月大时。肌肉中不存在PTRF免疫染色阳性，但在16个月大时肌膜中保留了Caveolin-3。小窝蛋白的继发性缺乏可能与疾病进展密切相关。

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