{Reference Type}: Case Reports
{Title}: A Rare Case of Congenital Generalized Lipodystrophy.
{Author}: Chalipat S;Avuthu OPR;Sindhura P;Mane SV;
{Journal}: Cureus
{Volume}: 16
{Issue}: 7
{Year}: 2024 Jul
暂无{DOI}: 10.7759/cureus.64276
{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.