Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Saitama, Japan.
Neuromuscul Disord. 2013 May;23(5):441-4. doi: 10.1016/j.nmd.2013.02.005. Epub 2013 Mar 13.
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.
一名患有先天性全身性脂肪营养不良 4 型伴肌病的男孩，在婴儿期表现为运动发育迟缓，肌酸激酶持续升高。他没有智力障碍。他被随访至 3 岁 11 个月，携带聚合酶 I 和转录释放因子（PTRF）的 c.696_697insC 纯合突变。他在 2 岁 6 个月时开始走路，尽管他没有智力障碍。3 岁 11 个月时出现胰岛素抵抗。16 个月时，肌肉 PTRF 免疫染色呈阴性，但质膜中 caveolin-3 保持正常。 caveolins 的继发性缺乏可能与疾病进展密切相关。
