婴儿神经-皮肤黑变病海马受累1例报告并文献复习

Report of one case of infantile neurocutaneous melanosis with hippocampus involved and review of literature

目的了解神经-皮肤黑变病的发病机制、临床特点、诊断方法、治疗手段及预后。方法总结1例神经-皮肤黑变病海马受累婴儿的临床资料,并复习相关文献。结果神经-皮肤黑变病为临床罕见病,该患儿早期经脑影像学检查及皮肤病理学活检而诊断,目前仍在随访中。结论神经-皮肤黑变病以先天性脑膜和皮肤黑色素细胞异常增殖为特征,发病机制可能源于外胚层发育异常,临床表现为先天性皮肤巨大的或散发的黑色素痣并伴有脑膜黑色素病变,脑磁共振成像为首选诊断方法,目前无特效治疗方法,有临床症状者预后差。

Objective To study the pathogenesis, clinical feature, diagnosis, treatment and prognosis of neurocutaneous melanosis. Methods The clinical information of a female infant with neurocntaneous melanosis involved hippoeampus was summarized, and related literature was reviewed. Results Neurocutaneous melanosis is a rare neurocutaneous syndrome. The infant was diagnosed via early brain imaging and skin biopsy, and the follow-up monitoring needed. Conclusions Neurocu- taneons melanosis is characterized mainly by the presence of congenital malignant proliferation of melanocytes in the skin and meninges. Its pathogenesis probably arises from abnormal ectoderm development. The clinicai features include congenital enormous or sporadic melanocytic nevi with meningeal malignant melanosis. The brain magnetic resonance is the preferred diagnosis of approach. So far, there is no effective treatment for this disease and the prognosis is poor for patient presentingclinical symptom.