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Background <p>Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue and profound metabolic derangements. Although insulin resistance is usually evident early in life, major end-organ complications such as cirrhosis and cardiomyopathy generally appear later. We describe a clinically suspected pediatric case from Pakistan with unusually early hepatic and cardiac involvement.</p> Case Presentation <p>An 11-year-old girl presented with longstanding generalized lipoatrophy, acanthosis nigricans, and insulin-dependent diabetes mellitus. Physical examination revealed hepatomegaly and muscular hypertrophy. Laboratory evaluation showed poor glycemic control (HbA1c 11.0%) and elevated C-peptide (6.35 ng/mL), while liver enzymes were mildly raised. Autoimmune markers were negative. Abdominal ultrasonography demonstrated diffuse hepatic steatosis with a nodular liver contour, suggestive of early cirrhosis. Echocardiography showed mild left ventricular hypertrophy, preserved systolic function (ejection fraction 60%), and mild-to-moderate valvular regurgitation. Genetic testing was not available, so the diagnosis was established clinically.</p> Discussion <p>This case broadens the recognized spectrum of BSCL by showing advanced hepatic and cardiac involvement by 11 years of age, which is uncommon in previously reported cases. Similar severe manifestations have only rarely been described in very young children, including isolated reports requiring liver transplantation. Our case is also compared with earlier Pakistani and international reports. Although the absence of molecular confirmation is a limitation, the combination of generalized lipodystrophy, insulin resistance, acanthosis nigricans, and organomegaly strongly supports a clinical diagnosis of BSCL.</p> Conclusion <p>BSCL should be considered in children with unexplained insulin resistance, generalized lipoatrophy, and hepatomegaly. Even in the absence of genetic testing, early clinical recognition may allow closer surveillance for hepatic and cardiac complications. This case emphasizes that severe organ involvement can occur unusually early in BSCL and may influence prognosis and management.</p>

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Clinically Suspected Berardinelli–Seip Congenital Lipodystrophy with Early Hepatic Cirrhosis and Cardiac Involvement in a Pakistani Child; A Case Report

  • 期刊论文

  • 发表日期：

    2026年6月18日

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  • Maryam Hameed,
  • Zain Mazhar,
  • Zohad Fareh,
  • Husnain Bashir,
  • Zaid Mazhar

摘要

Background

Berardinelli–Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue and profound metabolic derangements. Although insulin resistance is usually evident early in life, major end-organ complications such as cirrhosis and cardiomyopathy generally appear later. We describe a clinically suspected pediatric case from Pakistan with unusually early hepatic and cardiac involvement.

Case Presentation

An 11-year-old girl presented with longstanding generalized lipoatrophy, acanthosis nigricans, and insulin-dependent diabetes mellitus. Physical examination revealed hepatomegaly and muscular hypertrophy. Laboratory evaluation showed poor glycemic control (HbA1c 11.0%) and elevated C-peptide (6.35 ng/mL), while liver enzymes were mildly raised. Autoimmune markers were negative. Abdominal ultrasonography demonstrated diffuse hepatic steatosis with a nodular liver contour, suggestive of early cirrhosis. Echocardiography showed mild left ventricular hypertrophy, preserved systolic function (ejection fraction 60%), and mild-to-moderate valvular regurgitation. Genetic testing was not available, so the diagnosis was established clinically.

Discussion

This case broadens the recognized spectrum of BSCL by showing advanced hepatic and cardiac involvement by 11 years of age, which is uncommon in previously reported cases. Similar severe manifestations have only rarely been described in very young children, including isolated reports requiring liver transplantation. Our case is also compared with earlier Pakistani and international reports. Although the absence of molecular confirmation is a limitation, the combination of generalized lipodystrophy, insulin resistance, acanthosis nigricans, and organomegaly strongly supports a clinical diagnosis of BSCL.

Conclusion

BSCL should be considered in children with unexplained insulin resistance, generalized lipoatrophy, and hepatomegaly. Even in the absence of genetic testing, early clinical recognition may allow closer surveillance for hepatic and cardiac complications. This case emphasizes that severe organ involvement can occur unusually early in BSCL and may influence prognosis and management.