Librandi Katia, Grimaldi Serena, Catalano Silvia, Moro Francesco, Vallero Stefano Gabriele, Spada Marco, Porta Francesco
Postgraduate School of Pediatrics, University of Turin, Turin, Italy.
Department of Nuclear Medicine, University of Turin, Turin, Italy.
Front Pediatr. 2023 Jul 19;11:1216201. doi: 10.3389/fped.2023.1216201. eCollection 2023.
Tuberous sclerosis complex (TSC) is a rare multisystemic disorder. This genetically determined disease is characterized by highly variable clinical expression, including epilepsy as a common feature. Seizures can also occur as a manifestation of symptomatic hypoglycemia. The latter could be caused by an insulinoma, whose association to TSC has already been debated. In TSC-associated tumors, dysregulation of the mTOR pathway is believed to be present, leading to significant impacts on cellular metabolism, growht, and proliferation. To date, the association between TSC and insulinoma has been reported in 11 adults. Here, we present the first case of a pediatric patient with TSC diagnosed with an insulinoma and review the existing literature on this topic.
A 11-year-old female with TSC presented with seizures unresponsive to standard therapy. Further investigation revealed that these seizures were caused by hypoglycemia. Subsequent evaluation led to the diagnosis of a pancreatic insulinoma, which was surgically removed. Following the procedure, the patient was free from seizures.
In individuals with TSC, the recurrence of epileptiform episodes throughout their lifetime, especially if previously well controlled with antiepileptic therapy, should raise suspicion for hypoglycemic events. These events may potentially be associated with the presence of an insulinoma. Further research and increased awareness are necessary to gain a better understanding of the association between TSC and insulinomas, and to guide clinical management strategies.
结节性硬化症（TSC）是一种罕见的多系统疾病。这种由基因决定的疾病具有高度可变的临床表现，癫痫是其常见特征之一。癫痫发作也可能是症状性低血糖的表现。后者可能由胰岛素瘤引起，TSC与胰岛素瘤的关联已存在争议。在TSC相关肿瘤中，mTOR通路失调被认为存在，这会对细胞代谢、生长和增殖产生重大影响。迄今为止，TSC与胰岛素瘤之间的关联在11名成年人中已有报道。在此，我们报告首例诊断为胰岛素瘤的TSC儿科患者，并回顾关于该主题的现有文献。
一名患有TSC的11岁女性出现对标准治疗无反应的癫痫发作。进一步检查发现这些癫痫发作是由低血糖引起的。随后的评估导致诊断出胰腺胰岛素瘤，该肿瘤通过手术切除。手术后，患者癫痫发作消失。
在患有TSC的个体中，癫痫样发作在其一生中复发，尤其是如果以前通过抗癫痫治疗得到良好控制，应怀疑发生低血糖事件。这些事件可能与胰岛素瘤的存在有关。需要进一步研究并提高认识，以更好地理解TSC与胰岛素瘤之间的关联，并指导临床管理策略。
