Sri Meghana Kankipati, Surbhi Dumra, Swati Thareja, Lyluma Ishfaq, Mah N. Zargar, Arghadip Das, Sreya Kongala, Salma Younas
Andhra Medical College. Employees’ State Insurance Corporation (ESIC) Medical College and Hospital. The Hans Foundation. Central Michigan University College of Medicine. Fatima Jinnah Medical University. Nilratan Sircar Medical College and Hospital. Osmania Medical College. Punjab University College of Pharmacy.
India, Pakistan and United States
Cureus
Cureus 2024; 16:
DOI: 10.7759/cureus.75434
Abstract
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability. We present a case series of two siblings with BSCL: a nine-year-old boy and his seven-year-old sister, each with unique manifestations of the disorder. The older sibling presented with high-grade fever and right ankle pain, possibly indicative of a calcified deposit, alongside complications such as hyperglycemia (managed without insulin) and moderate pulmonary arterial hypertension (PAH) with tricuspid regurgitation (TR). The younger sibling displayed similar metabolic and cardiovascular complications, including hepatomegaly and early signs of cardiac involvement. Both cases required comprehensive evaluations, revealing anemia, thrombocytopenia, elevated leukocyte count, and high C-reactive protein (CRP) levels. The children were managed with high-potency antibiotics, leading to a marked improvement in their overall conditions. These cases demonstrate the broad spectrum of clinical manifestations associated with BSCL and highlight the importance of a multidisciplinary approach for effective management. Although limited by the small sample size, this case series shows the importance of a multidisciplinary approach in addressing the complex and overlapping symptoms of BSCL, which often mimic more common conditions. Increased awareness among healthcare providers is crucial for ensuring timely diagnosis and appropriate intervention, particularly in pediatric patients.
Category
Class V. Pulmonary Hypertension Associated with Hematological, Systemic, Metabolic and Other Disorders
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes