Hanaei Sara, Habibi Zohreh, Nejat Farideh, Sayarifard Fatemeh, Vasei Mohammad
Department of Neurosurgery, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Pediatr Neurosurg. 2015;50(1):38-41. doi: 10.1159/000368804. Epub 2015 Feb 25.
The Ullrich-Turner syndrome (complete or partial X-chromosome monosomy) has been found to be associated with an increased rate of some extragonadal neoplasms. Sporadic reports of the Turner syndrome with various brain tumors, including few cases of glioblastoma multiforme, have been found in the literature. However, published data are insufficient to establish a definite relationship between these tumors and the Turner syndrome. Herein, a rare case of primary pediatric glioblastoma multiforme in a 7-year-old girl with Turner's syndrome is reported, and various aspects regarding clinical and pathophysiological issues have been discussed. Although Turner's syndrome is not one of the congenital chromosomal abnormalities which demand routine CNS screening, neurological assessment may be of value in those with relevant clinical findings.
已发现乌尔里希-特纳综合征（完全或部分X染色体单体性）与某些性腺外肿瘤的发生率增加有关。文献中发现了关于特纳综合征伴各种脑肿瘤的零星报道，包括少数多形性胶质母细胞瘤病例。然而，已发表的数据不足以确定这些肿瘤与特纳综合征之间的明确关系。本文报告了一例7岁患有特纳综合征的女童原发性小儿多形性胶质母细胞瘤罕见病例，并讨论了临床和病理生理问题的各个方面。虽然特纳综合征不是需要常规中枢神经系统筛查的先天性染色体异常之一，但对于有相关临床发现的患者，神经学评估可能有价值。
