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

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.