特殊面容、反复高甘油三酯1年余

Unusual facies and recurrent high triglycerides for more than one year in a girl

患儿,女,1岁9个月,新生儿期即发现高甘油三酯血症,伴逐渐出现的特殊面容和体征:全身皮肤黝黑、皮下脂肪消失,颈部黑棘皮,毛发增多、浓密,面部呈空双颊,四肢肌肉肥大,肝脏肿大,以及中性粒细胞缺乏。单基因病全外显子组测序发现患儿存在已报道的先天性全身脂肪营养不良(CGL)的BSCL2基因突变:c.974(外显子7)_c.975(外显子7)insG纯合突变,其父母均为该位点的杂合子。确诊CGL,但不能明确中性粒细胞缺乏与CGL的关系。予低脂及高碳水化合物饮食控制后甘油三酯可维持正常,体征无明显变化。CGL为罕见的常染色体隐性遗传的系统性疾病,表现为新生儿期出现的全身皮下脂肪消失、四肢肌肉肥大和代谢紊乱:如高甘油三酯、高胰岛素血症、高血糖等,95%的CGL由AGPAT2或BSCL2突变导致。

A girl,aged 1 year and 9 months,was found to have hypertriglyceridemia in the neonatal period,with unusual facies and signs of dark skin all over the body,disappearance of subcutaneous adipose,acanthosis nigricans of the neck,excessive and thick hair,empty cheeks,muscle hypertrophy of the extremities,hepatomegaly,and neutrophil deficiency.Whole exome sequencing of monogenic disorder revealed a homozygote mutation in the BSCL2 gene,c.974(exon 7)_c.975(exon 7) insG.Her parents were heterozygotes for this locus.The girl was diagnosed with congenital generalized lipodystrophy(CGL),but the association between CGL and neutrophil deficiency remained unclear.Triglyceride was maintained at a normal level after the treatment with a low-fat and high-carbohydrate diet,and there were no obvious changes in signs.CGL is a rare autosomal recessive systemic disease manifested as disappearance of systemic subcutaneous adipose,muscle hypertrophy of the extremities,and metabolic disorders in the neonatal period,such as high triglycerides,hyperinsulinemia,and hyperglycemia.About 95% of CGL cases are caused by mutations in the AGPAT2 or BSCL2 gene.