儿童神经皮肤黑变病伴兽皮痣个案1例并文献复习

Neurocutaneous melanosis with nevus in children:a case report and literature review

目的:探讨儿童神经皮肤黑变病及兽皮痣的诊断学特征并文献复习。方法:回顾分析济宁市第一人民医院儿科于2018年1月收治的1例诊断为"颅内神经皮肤黑变病、兽皮痣、继发性癫痫、继发性脑积水、脑出血、脑萎缩、先天性Dandy-Walker畸形"的患儿的临床资料,分析其临床特点并复习相关文献。结果:患儿,女,10岁,躯干部、臀部、双腿上部可见成片样黑色胎记,有较多长毛发生长,并见多处手术后瘢痕,皮肤表面松弛干燥,伴有多次恶心呕吐、头痛、抽搐,入院后给予甘露醇降低颅内压、三磷酸胞苷二钠营养脑细胞等对症处理,患儿病情缓解。颅脑MRI 1.颅内多发异常信号并脑积水2.脑萎缩3.左顶叶脑软化灶颅脑CT 1.脑积水 2.Dandy-Walker畸形可能3.颅内神经皮肤黑病变CT改变结论:神经皮肤黑变病是由于黑色素细胞发育异常所致伴有皮肤黑色素痣的先天性疾病,常伴有继发性癫痫、继发性脑积水、脑出血、脑萎缩等并发症,兽皮痣是先天性黑素细胞痣的一种,长有粗黑毛,形如兽皮得名,有恶变可能性。

Objective To explore the diagnostic characteristics of neurocutaneous melanosis and nevus of animal skin in children and review the literature.Methods The clinical data of a case diagnosed as"intracranial neurocutaneous melanosis,skin nevus,secondary epilepsy,secondary hydrocephalus,cerebral hemorrhage,brain atrophy and congenital Dandy Walker malformation"in pediatrics of the first people's Hospital of Jining City in January 2018 were analyzed,and the clinical characteristics were analyzed.Results The patient,female,10 years old,had a lot of black birthmarks on the trunk,buttock and upper part of both legs.There were many long hair growth and scars after operation.The skin surface was loose and dry,accompanied with many times of nausea and vomiting,headache and convulsion.After admission,the patient was given mannitol to reduce intracranial pressure,cytidine triphosphate to nourish brain cells and other symptomatic treatment.The patient's condition was relieved.Brain MRI 1.Intracranial multiple abnormal signals and hydrocephalus 2.Brain atrophy 3.Left parietal lobe encephalomalacia brain CT 1.Hydrocephalus 2.Dandy Walker malformation may 3.CT changes of intracranial neurocutaneous melanosis.Conclusion Neurocutaneous melanosis is a congenital disease with cutaneous melanocytic nevus caused by abnormal development of melanocytes,often accompanied by secondary epilepsy,secondary hydrocephalus,cerebral hemorrhage and cerebral impotence.Shrinkage and other complications,skin nevus is a kind of congenital melanocytic nevus,with thick black hair,the shape of which is named after the skin,with the possibility of malignant transformation.