Severe multi-site abscesses and necrotizing fasciitis in a young patient with diabetes

Abstract

Introduction: Multifocal abscesses in young patients are uncommon and may signal underlying genetic or immune defects. Case presentation: A 20-year-old woman with maternal diabetes and consanguinity presented with hip pain and fever after a minor fall. Examination revealed short stature, cognitive impairment, and thigh masses. Imaging confirmed abscesses, and laboratory tests revealed severe infection, anemia, hypoalbuminemia, hypothyroidism, and uncontrolled diabetes. Genetic testing identified an X-chromosome deletion affecting immune, endocrine, and neurodevelopmental genes. Multidisciplinary care (debridement, antibiotics, and glycemic or endocrine support) resulted in recovery; she was discharged on day 28 with good healing and function at 6 months. Conclusion: Unexplained disseminated infection in young patients warrants genetic evaluation. This deletion explains susceptibility to infection, diabetes, intellectual disability, and delayed puberty. Management requires early recognition, aggressive surgery, and multidisciplinary expertise.