Multiple subcutaneous nodules for 46 days in an infant aged 66 days / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 903-908, 2020.
Article
ي Zh
| WPRIM
| ID: wpr-828647
المكتبة المسؤولة:
WPRO
ABSTRACT
A boy, aged 66 days, was admitted to the hospital due to subcutaneous nodules for 46 days and abdominal distension for 10 days. The main clinical manifestations were loss of adipose tissue, subcutaneous nodules, insulin-resistant diabetes, hypertriglyceridemia, and hepatic steatosis. The boy was diagnosed with congenital generalized lipodystrophy type 1 (CGL1). His condition was improved after administration of middle-chain fatty acid formula milk and insulin injection or oral metformin. Gene testing revealed a homozygous mutation, c.646A>T, in the AGPAT2 gene, and both his parents were carriers of this mutation. This case of CGL1 has the youngest age of onset ever reported in China and multiple subcutaneous nodules as the initial symptom.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Insulin Resistance
/
China
/
Adipose Tissue
/
Lipodystrophy, Congenital Generalized
/
Fatty Liver
/
Lipodystrophy
المحددات:
Humans
/
Infant
/
Male
البلد/الأقليم حسب الموضوع:
Asia
اللغة:
Zh
مجلة:
Chinese Journal of Contemporary Pediatrics
السنة:
2020
نوع:
Article