SILVER-RUSSELL SYNDROME ASSOCIATED WITH TYPE 1 NEUROFIBROMATOSIS: A CASE REPORT

Abstract

Objective: The objective this case report is to understand and deepen studies on Silver-Russell Syndrome and type 1 neurofibromatosis, which are relatively rare entities. Case description: LFSJ, male, 13 years old, always presented with a score below normal for height and weight. At ectoscopy, it presents with a triangular face, predominant café au lait spots on the chest, limb asymmetry, clinodactyly of the left fifth finger. Therefore, having a diagnosis of Silver-Russell Syndrome. During the diagnostic investigation, imaging exams was suggestive signs of type 1 neurofibromatosis, showing an expansive lesion in the right frontal lobe with invasion of the anterior horn of the lateral ventricle. Conclusion: This case demonstrates an unusual finding as there is an association between two relatively rare syndromes. Furthermore, the patient develops a benign tumor, astrocioma, with an atypical location.