Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report

Introduction: Lipodystrophy syndromes (LS) represent a clinically and genetically diverse group of disorders characterised by a partial or generalised deficiency of adipose tissue. LS are characterised by a partial or generalised 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: The patient was assessed for general lipodystrophy and myopathy findings, and a CAVIN1 mutation was identified by next-generation sequencing. Our patient exhibited low leptin and vitamin D levels, categorised as metabolic disorders, alongside increased insulin resistance. Additionally, low IGF-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 internal carotid artery, which are seen as ultra-rare. 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 prioritised when associated with elevated liver enzyme levels and creatine phosphokinase (CPK) values. Determining the underlying genetic cause enables an expeditious monitoring and treatment process.