Wilne Sophie, Collier Jacqueline, Kennedy Colin, Koller Karin, Grundy Richard, Walker David
Children's Brain Tumour Research Centre, Academic Division of Child Health, University of Nottingham, Queen's Medical Centre, UK.
Lancet Oncol. 2007 Aug;8(8):685-95. doi: 10.1016/S1470-2045(07)70207-3.
Suspicion of a CNS tumour is classically raised by symptoms of raised intracranial pressure, focal deficits (including seizures), or papilloedema. Development of guidelines is needed for the identification and referral of children who might have a CNS tumour. We did a systematic literature review and meta-analysis to identify the clinical presentation of childhood CNS tumours to provide evidence to support the development of guidelines to assist with the identification and referral for imaging of children who might have a central nervous system tumour.
Medline, Embase, and PubMed were searched for cohort studies and case series in children, published between January, 1991, and August, 2005, detailing the symptoms and signs at diagnosis of a CNS tumour.
74 papers (n=4171) met the inclusion criteria. 56 symptoms and signs at diagnosis were identified, ranked by frequency, and clustered according to age, anatomical criteria, and genetic criteria. The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours. Other features noted were weight loss, growth failure, and precocious puberty. Symptoms of raised intracranial pressure were absent in more than half of children with brain tumours. Other neurological features were heterogeneous and related to tumour location.
Apart from raised intracranial pressure, motor and visual system abnormalities, weight loss, macrocephaly, growth failure, and precocious puberty also suggest presence of an intracranial tumour. Children with signs and symptoms that could result from a CNS tumour need a thorough visual and motor system examination and an assessment of growth and pubertal status. Occurrence of multiple symptoms and signs should alert clinicians to possible CNS tumours.
颅内压升高的症状、局灶性缺损（包括癫痫发作）或视乳头水肿通常会引发对中枢神经系统肿瘤的怀疑。需要制定指南来识别和转诊可能患有中枢神经系统肿瘤的儿童。我们进行了一项系统的文献综述和荟萃分析，以确定儿童中枢神经系统肿瘤的临床表现，为制定指南提供证据，以协助识别和转诊可能患有中枢神经系统肿瘤的儿童进行影像学检查。
检索Medline、Embase和PubMed，查找1991年1月至2005年8月发表的关于儿童队列研究和病例系列，详细描述中枢神经系统肿瘤诊断时的症状和体征。
74篇论文（n = 4171）符合纳入标准。确定了诊断时的56种症状和体征，按频率排序，并根据年龄、解剖学标准和遗传学标准进行聚类。颅内肿瘤诊断时最常见的症状和体征是：头痛（33%）、恶心和呕吐（32%）、步态和协调异常（27%）以及视乳头水肿（13%）；4岁以下颅内肿瘤患儿的巨头畸形（41%）、恶心和呕吐（30%）、易激惹（24%）以及嗜睡（21%）；患有颅内肿瘤和神经纤维瘤病的儿童视力下降（41%）、眼球突出（16%）和视神经萎缩（15%）；后颅窝肿瘤的恶心和呕吐（75%）、头痛（67%）、异常步态和协调（60%）以及视乳头水肿（34%）；幕上肿瘤未明确的颅内压升高症状和体征（47%）、癫痫发作（38%）以及视乳头水肿（错译：乳头水肿，应为21%）；脑中心肿瘤的头痛（49%）、异常眼球运动（21%）、斜视（21%）以及恶心和呕吐（19%）；脑干肿瘤的异常步态和协调（78%）、脑神经麻痹（52%）、锥体束征（33%）、头痛（23%）以及斜视（19%）；脊髓肿瘤的背痛（67%）、异常步态和协调（42%）、脊柱畸形（39%）、局灶性无力（21%）以及括约肌功能障碍（20%）。还注意到其他特征包括体重减轻、生长发育迟缓以及性早熟。超过一半的脑肿瘤患儿没有颅内压升高的症状。其他神经系统特征具有异质性，且与肿瘤位置有关。
除了颅内压升高外，运动和视觉系统异常、体重减轻、巨头畸形、生长发育迟缓以及性早熟也提示颅内肿瘤的存在。有中枢神经系统肿瘤可能导致的症状和体征的儿童需要进行全面的视觉和运动系统检查以及生长和青春期状态评估。多种症状和体征的出现应提醒临床医生注意可能存在中枢神经系统肿瘤。
