神经皮肤综合征的临床特征、CT及MRI诊断

Clinical features and CT,MR diagnosis of Neurocutaneous Syndrome

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。

Objective To summarize the CT, MRI features 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）l 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 yon 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. It still need discussion whether cerebel he- mangioblastoma should be included into this kind of disease.