Rare Onset of Erdheim-Chester Disease in Children and Young Adults: A Case Series and Review of the Literature.

IF 0.9 4区医学 Q4 CLINICAL NEUROLOGY

Pediatric Neurosurgery Pub Date : 2024-01-01 Epub Date: 2024-01-23 DOI:10.1159/000535898

Carmine Romano, Francesco Pegoraro, Augusto Vaglio, Chiara Spezzani, Elena Sieni, Ilaria Fotzi, Matteo Lenge, Andrea Di Rita, Simone Peraio, Alice Noris, Carla Gaggiano, Salvatore Grosso, Flavio Giordano

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引用次数: 0

Abstract

Introduction: Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm that affects patients, predominantly males aged 40-70 years, with very heterogeneous clinical presentation and prognosis. In 2020, Goyal et al. proposed consensus recommendations for the management of patients with ECD, remarking on the exceptional presentation of the disease in the pediatric population.

Case presentation: The first patient, a 20-year-old male, underwent cervical laminectomy and partial removal of a cervical spine lesion, initially apparently consistent with cervical schwannomas. The second patient, a 9-year-old female, received surgery for an extra-axial lesion of the greater sphenoid wing, radiologically consistent with a meningioma.

Conclusion: At present, 15 pediatric cases have been reported in the literature with involvement of the central nervous system, with no consensus on the diagnostic and therapeutic management, as Pegoraro et al. evidenced in their pediatric multicenter case series. The present article adds two new cases of ECD with onset in childhood and young adulthood, who received the diagnosis after neurosurgical procedures.

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儿童和青少年罕见的埃尔德海姆-切斯特病：病例系列和文献综述。

简介埃尔德海姆-切斯特病（Erdheim-Chester disease，ECD）是一种罕见的组织细胞肿瘤，患者主要为40-70岁的男性，临床表现和预后各不相同。2020 年，Goyal 等人提出了治疗 ECD 患者的共识建议，并指出该病在儿童群体中的特殊表现：第一例患者是一名 20 岁的男性，接受了颈椎椎板切除术，部分切除了颈椎病变，最初明显与颈椎裂孔瘤一致。第二例患者是一名 9 岁的女性，因大鼻翼轴外病变接受了手术，放射学检查结果与脑膜瘤一致：Pegoraro等人在他们的儿科多中心病例系列中证实，目前已有15例累及中枢神经系统的儿科病例在文献中报道，但对诊断和治疗方法尚未达成共识。本文新增了两例儿童期和青年期发病的 ECD 病例，他们都是在接受神经外科手术后确诊的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Neurosurgery 医学-临床神经学

CiteScore

1.30

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Articles in ''Pediatric Neurosurgery'' strives to publish new information and observations in pediatric neurosurgery and the allied fields of neurology, neuroradiology and neuropathology as they relate to the etiology of neurologic diseases and the operative care of affected patients. In addition to experimental and clinical studies, the journal presents critical reviews which provide the reader with an update on selected topics as well as case histories and reports on advances in methodology and technique. This thought-provoking focus encourages dissemination of information from neurosurgeons and neuroscientists around the world that will be of interest to clinicians and researchers concerned with pediatric, congenital, and developmental diseases of the nervous system.