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.
Artículo
en Chino
| WPRIM
| ID: wpr-828647
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Resistencia a la Insulina
/
China
/
Tejido Adiposo
/
Lipodistrofia Generalizada Congénita
/
Hígado Graso
/
Lipodistrofia
Límite:
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2020
Tipo del documento:
Artículo
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