[Multiple subcutaneous nodules for 46 days in an infant aged 66 days]

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Congenital generalized lipodystrophy type 1 (CGL1) is a rare genetic disorder characterized by a near-complete absence of adipose tissue.
• It leads to severe metabolic disturbances including insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis.

Observation:

• A 66-day-old male infant presented with subcutaneous nodules and abdominal distension.
• Clinical manifestations included generalized lipodystrophy, insulin-resistant diabetes, hypertriglyceridemia, and hepatic steatosis.
• Multiple subcutaneous nodules were the initial presenting symptom.

Findings:

• The patient was diagnosed with CGL1.
• Genetic testing identified a homozygous c.646A>T mutation in the AGPAT2 gene, with both parents identified as carriers.
• This case represents the youngest reported onset of CGL1 in China.

Implications:

• Early diagnosis and intervention are crucial for managing CGL1 and its associated metabolic complications.
• Treatment with specialized formula milk, insulin, and metformin showed positive outcomes.
• This case underscores the genetic basis of CGL1 and the importance of genetic screening in affected families.