Abstract：
BACKGROUND: Congenital generalized lipodystrophy (CGL) is a clinically heterogeneous disorder characterized by near total absence of adipose tissue along with metabolic complications. Diabetes mellitus developed from CGL usually present between ages 15 and 20 years, and there are few reports in neonate.
METHODS: In this report, we described a rare clinical presentation of CGL in a 12-day-old Chinese female neonates with hyperglycemia, hyperlipidemia, and subsequently appeared diabetes, hepatomegaly and fatty liver. The two clinical-exome sequencing identified heterozygous null mutations (c.793C > T and c.565G > T) in BSCL2 gene which was inherited from father and mother respectively. To date, it was the firstly reported CGL patient with neonatal onset diabetes. The neonate was treated with antibiotic, insulin and deeply hydrolyzed formula milk to significantly decrease FBG and serum trigylcerides levels. CONCLUSIONS: Our case report analyzes the causes of early onset diabetes may relate with the locus of BSCL2 gene mutations and infection induction. It also suggests the importance of early identification, genetic analysis, and symptomatic treatment in the CGL, which are essential for improving the prognosis of children.
METHODS: In this report, we described a rare clinical presentation of CGL in a 12-day-old Chinese female neonates with hyperglycemia, hyperlipidemia, and subsequently appeared diabetes, hepatomegaly and fatty liver. The two clinical-exome sequencing identified heterozygous null mutations (c.793C > T and c.565G > T) in BSCL2 gene which was inherited from father and mother respectively. To date, it was the firstly reported CGL patient with neonatal onset diabetes. The neonate was treated with antibiotic, insulin and deeply hydrolyzed formula milk to significantly decrease FBG and serum trigylcerides levels. CONCLUSIONS: Our case report analyzes the causes of early onset diabetes may relate with the locus of BSCL2 gene mutations and infection induction. It also suggests the importance of early identification, genetic analysis, and symptomatic treatment in the CGL, which are essential for improving the prognosis of children.
摘要：
背景：先天性全身性脂肪营养不良（CGL）是一种临床异质性疾病，其特征是脂肪组织几乎完全缺失以及代谢并发症。从CGL发展而来的糖尿病通常出现在15到20岁之间，新生儿的报告很少。
方法：在本报告中，我们描述了一个罕见的CGL临床表现在12天大的中国女性新生儿高血糖，高脂血症,随后出现了糖尿病，肝肿大和脂肪肝。两个临床外显子组测序鉴定了BSCL2基因中的杂合无效突变（c.793C>T和c.565G>T），该突变分别是从父亲和母亲那里遗传的。迄今为止,这是首次报道的新生儿糖尿病CGL患者。新生儿接受了抗生素治疗，胰岛素和深度水解配方乳可显着降低FBG和血清甘油三酯水平。结论：我们的病例报告分析了早发性糖尿病的原因可能与BSCL2基因突变位点和感染诱导有关。这也表明了早期识别的重要性，遗传分析,在CGL进行对症治疗，这对于改善儿童的预后至关重要。
方法：在本报告中，我们描述了一个罕见的CGL临床表现在12天大的中国女性新生儿高血糖，高脂血症,随后出现了糖尿病，肝肿大和脂肪肝。两个临床外显子组测序鉴定了BSCL2基因中的杂合无效突变（c.793C>T和c.565G>T），该突变分别是从父亲和母亲那里遗传的。迄今为止,这是首次报道的新生儿糖尿病CGL患者。新生儿接受了抗生素治疗，胰岛素和深度水解配方乳可显着降低FBG和血清甘油三酯水平。结论：我们的病例报告分析了早发性糖尿病的原因可能与BSCL2基因突变位点和感染诱导有关。这也表明了早期识别的重要性，遗传分析,在CGL进行对症治疗，这对于改善儿童的预后至关重要。
