Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Lipodystrophy syndromes (LS) represent a clinically and genetically heterogeneous group of disorders of adipose tissue. LS are characterized by a partial or generalized deficiency of adipose tissue and variations in fat distribution throughout the body. Metabolic complications serve as significant determinants of morbidity and mortality in these syndromes. Case Presentation: mutation was identified by next generation sequencing. Our patient exhibited low leptin and vitamin D levels, categorized as metabolic disorders, alongside increased insulin resistance. Additionally, low insulin-like growth factor 1 levels and delayed puberty were noted as hormonal disorders. Osteoporosis, scoliosis, ventricular extrasystoles, and ventricular tachycardia were observed as morbid conditions during the follow-up. We detected hypoplasia of the anterior cerebral artery and the internal carotid artery, which are seen as ultrarare. A coexistent structural cerebral vascular anomaly has not been previously reported in congenital generalized lipodystrophy type 4. Conclusion: Congenital generalized lipodystrophy type 4 should be considered when associated with elevated liver enzyme levels and creatine phosphokinase values. Determining the underlying genetic cause enables an expeditious monitoring and treatment process.
Source: Molecular Syndromology
DOI: 10.1159/000548361
Institutions: Necmettin Erbakan University, Konya City Hospital
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4414178991