神经皮肤综合征的临床特征及CT、MRI诊断.doc

神经皮肤综合征的临床特征及 CT、MRI 诊断

作者：祝玉芬 梁志会 杜昱平

【摘要】 目的 总结、复习几种常见神经皮肤综合征的 CT、MRI

特征和诊断。方法 收集 17 例经临床及多种影像手段证实的此类病例,

对其影像学资料进行回顾性的分析和总结。结果 ①结节性硬化 6 例,

所有病例 CT 平扫见两侧脑室室管膜下多发小结节状高密度钙化灶,

其中 4 例为两对母子关系，并见两位母亲合并有肾脏错构瘤，;②神经

纤维瘤病 1 例,MRI 表现为椎管异常,胸腰段脊柱侧弯，椎体后缘呈明

显的切凹改变;伴有双肾发育不良，CT 示肾内多个高密度影，背部皮

肤多量脂肪堆积，③脑颜面血管瘤综合征 6 例, CT 可见顶枕部沿脑回

分布的弯曲的条状高密度钙化,部分延伸致侧脑室内,增强后见病灶内

有扭曲的条状和结节状明显强化的血管影;④小脑血管瘤病 4 例,影像

学表现为小脑内大囊、小结节样占位性病变。结论 结合典型的临床症

状和体征,合理应用影像学检查手段,分析不同的影像学征像,可以对

神经皮肤综合征早期做出明确的诊断。但提出对小脑血管瘤归为为该

类病变是否合适，值得探讨。

【关键词】 结节性硬化;神经纤维瘤病;脑颜面血管瘤综合征;血

管母细胞瘤;体层摄影术,X 线计算机;磁共振成像

[Abstract] Objective To summarize the CT, MRI features

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and diagnosis of several kinds of Neurocutaneous Syndrome.

Methods The data of 17 patients with Neurocutaneous Syndrome was

collected. Their imaging features were retrospectively reviewed

and analyzed. Results (1) 6 cases of Tuberous Sclerosis.

Diffused subependymal nodular calcification lesions were found

in all cases on unenhenced CT. 4 patients are 2 pairs of

mother/child relationship. Both of the two mothers are found to

suffer from renal angiomyolipoma.(2)1 case of neurofibromatosis

showed abnormal spinal canal: scoliosis of thoracic and lumbar

spine, concave change of vertebral posterior border. Bilateral

renal hypogenesis was found in this patient. Diffused

hyper-density lesions were found in kidney and fatty

accumulation was found in back skin. (3)6 cases of Sturge-Weber

syndrome. On unenhenced CT, curving and strip-shaped

calcifications were found along the parietal and occipital gyrus.

Parts of them protruded into lateral ventricle. After

enhancement, strip-shaped or nodular enhanced vessels were

found in the lesions. (4) 4 cases of von Hipple Linda. Space

occupied lesions with Large cyst and small nodule were found in

cerebellum. Conclusion We can make an early and accurate

diagnosis of Neurocutaneous Syndrome by analyzing the imaging

features combining with the clinical manifestations reasonably.

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It still need discussion whether cerebel hemangioblastoma

should be included into this kind of disease.

[Key words]Tuberous Sclerosis; Neurocutaneous syndrome;

Sturge-Weber syndrome; von Hipple Lind(cerebel

hemangioblastom);MRI.

神经皮肤综合征(neurocutaneous syndrome)是一类神经和

皮肤同时患病的先天发育异常,又称斑痣性错构瘤病(phakomatosis),

系一类少见源于外胚层组织和器官发育异常的常染色体显性遗传性疾

病[1]。常见的有神经纤维瘤病(neurofibromatosis,NF)、结节性硬化

(tuberous sclerosis complex,TSC) 和 脑 颜 面 血 管 瘤 综 合 征

(Sturge-Weber syndrome, SWS)、vonHipple Lindaw(VHL)综合征(如

视网膜小脑血管瘤病、血管母细胞瘤)等。此类病变, 常有多系统的先

天异常，临床表现复杂，就诊原因各异，容易漏诊和误诊。不同的影

像学方法对此类疾病有不同的诊断价值,回顾性分析我院 1998-2009

年共 16 例经临床和手术证实的此类病例的临床和影像学资料。 探讨其

临床表现和影像特征，使我们能够对此类病变有更全面、准确的认识，

提高此类疾病的诊疗水平。

材料与方法

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