Division of Oncology and Children's Research Center.
Division of Oncology, Pediatric Hospital of Eastern Switzerland, St. Gallen, Switzerland.
J Pediatr Hematol Oncol. 2023 May 1;45(4):e543-e546. doi: 10.1097/MPH.0000000000002569. Epub 2022 Oct 20.
Diencephalic syndrome is usually associated with tumors in the hypothalamic region, rarely occurring in patients with neurofibromatosis type 1 (NF1)-associated gliomas. We describe the clinical presentation and response to treatment in 3 patients with NF1 presenting with diencephalic syndrome as first symptom of optic pathway/hypothalamic glioma (OPHG). Because of the rarity of this constellation, knowledge about the clinical course and best treatment options for patients with NF1-associated OPHG and diencephalic syndrome is still limited. All 3 patients showed good response to treatment with normalization of body mass index and decrease in tumor volume within 6 months.
间脑综合征通常与下丘脑区域的肿瘤相关，在神经纤维瘤病 1 型（NF1）相关的胶质瘤患者中很少发生。我们描述了 3 例 NF1 患者的临床表现和对治疗的反应，这些患者以间脑综合征为首发症状，表现为视神经通路/下丘脑胶质瘤（OPHG）。由于这种组合非常罕见，因此对于 NF1 相关的 OPHG 和间脑综合征患者的临床病程和最佳治疗选择的了解仍然有限。所有 3 例患者均对治疗有良好反应，6 个月内体重指数正常化，肿瘤体积减小。
