Nerosurgery Unit, Instituto Nacional de Salud del Niño San Borja, Lima, Peru.
Diagnostic Support Unit, Instituto Nacional de Salud del Niño San Borja, Lima, Peru.
Pediatr Neurosurg. 2021;56(3):279-285. doi: 10.1159/000514335. Epub 2021 Mar 29.
Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is an uncommon disorder in children, characterized by being a slow-growing lesion of the posterior fossa, which mainly affects the granular cell layer of the cerebellar parenchyma and may be associated with other multiple hereditary hamartomas and neoplasms.
We report 2 cases of LDD in pediatric patients and describe clinical symptoms and radiological and histopathological characteristics. In addition, we analyzed the relation to Cowden Syndrome based on the International Cowden Syndrome Consortium Operational Criteria and the most updated guidelines by the National Comprehensive Cancer Network (NCCN Guidelines Version 1.2020).
LDD is a very rare disease in childhood but should be considered in the differential diagnosis of posterior fossa lesions. LDD can mimic low-grade glial tumors or infectious diseases. Patients develop late clinical manifestations due to the slow-growing pattern, and conservative treatment with outpatient follow-up may be an option in asymptomatic children.
Lhermitte-Duclos 病（LDD），也称为小脑神经节细胞瘤发育不良，是一种儿童罕见疾病，其特征为缓慢生长的后颅窝病变，主要影响小脑实质的颗粒细胞层，可能与其他多发性遗传性错构瘤和肿瘤相关。
我们报告了 2 例儿科 LDD 病例，并描述了临床症状和影像学及组织病理学特征。此外，我们根据国际 Cowden 综合征联盟操作标准和国家综合癌症网络（NCCN 指南第 1.2020 版）的最新指南分析了与 Cowden 综合征的关系。
LDD 在儿童中是一种非常罕见的疾病，但在鉴别诊断后颅窝病变时应考虑到它。LDD 可模拟低度神经胶质瘤或传染病。由于生长缓慢，患者出现晚期临床表现，对于无症状儿童，门诊随访的保守治疗可能是一种选择。
