Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature

• Published in: Pediatric neurology 2023-11, Vol.148, p.14-16
• Main Authors: Iznardo, Helena, Bernal, Sara, Boronat, Susana, Roé, Esther
• Format: Article
• Language: English
• Subjects: Angiofibromas; Sclerotic bone lesions; Tuberous sclerosis complex; Variant of uncertain significance
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2023.07.022

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that can involve multiple organ systems. Diagnosis is based on independent clinical diagnostic criteria and genetic diagnostic criteria (pathogenic variants on TSC1 and TSC2 genes). To make a definitive diagnosis can be especially difficult in oligosymptomatic or asymptomatic patients and in those patients with genetic variants of uncertain significance (VUS). Early diagnosis and lifelong surveillance are paramount to avoid morbidity and potentially life-threatening complications. To increase diagnostic sensibility, less known manifestations of TSC can be helpful. Herein we show a case in which SBLs were used as a diagnostic clue to help diagnose three generations of oligosymptomatic TSC carrying a VUS in TSC1. SBLs are commonly detected in imaging studies of patients with TSC and have been recently included as a minor clinical diagnostic criterion. Clinicians and radiologists should be aware of their significance as they can be mistaken with osteoblastic metastases.