[Radiographic findings in a case of congenital generalized lipodystrophy]

Congenital generalized lipodystrophy (BerardinelliSeip syndrome) is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue and severe metabolic disturbances. Early diagnosis is crucial to prevent complications. We present a 7-year-old female with no relevant family history, showing facial dysmorphism, diffuse skin hyperpigmentation, and deep abdominal folds. Skull radiography revealed structural abnormalities of the cranial base and mandible compatible with bone dysplasia. These clinical and radiographic findings supported the diagnosis of congenital generalized lipodystrophy. Despite normal leptin levels and a whole exome sequencing without pathogenic variants, the phenotype justifies clinical suspicion, suggesting the need for complementary genetic techniques to rule out large rearrangements. The association of facial dysmorphism, skin abnormalities, and craniofacial radiographic findings is highly suggestive of this rare disorder. Radiological imaging provides complementary evidence that strengthens clinical suspicion and helps differentiate it from other dysplasias.