A Rare Case of Congenital Generalized Lipodystrophy

TL;DR

This paper presents a rare case of a one-year-old boy with congenital generalized lipodystrophy type 2, highlighting the importance of early diagnosis and genetic testing.

Contribution

The novelty lies in the detailed clinical and genetic characterization of a rare pediatric case of CGL2.

Findings

The child exhibited distinctive physical features and metabolic complications consistent with CGL2.

Genetic testing confirmed a homozygous pathogenic variant in the BSCL2 gene.

The case emphasizes the need for early recognition and monitoring in managing this rare disorder.

Abstract

Congenital generalized lipodystrophy type 2 (CGL2) is a rare autosomal recessive disorder characterized by the near-total absence of adipose tissue, leading to various metabolic complications. We present the case of a one-year-old male who exhibited progressive abdominal distension from six months of age. Physical examination revealed distinctive features including triangular facies, hypertelorism, an emaciated appearance with absent buccal fat, and hepatosplenomegaly. Laboratory investigations showed elevated transaminases and a deranged lipid profile, while imaging confirmed hepatosplenomegaly without systemic anomalies. A liver biopsy indicated macrovesicular steatosis and impending cirrhosis. Genetic testing revealed a homozygous pathogenic variant in the BSCL2 gene (c.604C>T), confirming CGL2. The child is under regular follow-up, with genetic counseling provided to the parents. This case underscores the importance of early recognition, genetic diagnosis, and regular monitoring in managing this rare condition.

Figures