神经皮肤黑变病合并Dandy-Walker畸形一例

目的 总结1例经病理确诊的神经皮肤黑变病患者的临床特征及病理表现.方法 患者女性,21岁,出生时全身即有多处皮肤大面积黑痣,因耳鸣、头痛、呕吐2个月,视力下降1个月就诊.头部MRI扫描显示后颅凹囊性占位,Dandy-Walker畸形,颈椎管内及颅内广泛脑脊膜强化并增厚.行后颅凹开颅囊肿切除术,切除标本行HE及免疫组织化学染色进行观察.结果 开颅后显示术野内囊肿及脑表面软脑膜均呈黑色.光镜下囊壁内见大量黑色素细胞,局灶呈瘤样增生,免疫组织化学染色显示黑色素细胞呈黑色素瘤抗体HMB45、MelanA、S100、波形蛋白(vimentin)阳性,核抗原ki-67阳性率＜1％.病理诊断:脑膜弥漫性黑色素细胞增多症.患者术后2个月死亡.结论 神经皮肤黑变病主要特点为皮肤及软脑膜弥漫性或局灶性黑色素细胞增生,可合并Dandy-Walker畸形.确诊需病理活体组织检查.

Neurocutaneous melanosis with the Dandy-Walker malformation: one case report

Objective To investigate the clinic and pathologic features of one patient diagnosed with neurocutaneous melanosis ( NCM ) by biopsy.Methods A 21-year-old woman presented with a 2-month history of tinnitus,headache,vomiting and 1-month history of impaired vision.At birth,a massive nevus covering most of the posterior abdomen had been noted as well as the presence of multiple smaller lesions all over the body.Magnetic resonance imaging demonstrated a posterior fossa cyst compatible with the Dandy-Walker syndrome and extensive leptomeningeal enhancement. Surgery was performed to cystectomy and to obtain pathologic specimens from the leptomeninges. Biopsy and immunohistochemical study was performed.Results At surgery,diffuse black pigmentation of the leptomeninges and the cyst was found.Under microscope,the cyst and leptomeninges were composed with melanocytes with variable pigmentation.Those cells positive for HMB45,MelanA,S100 and vimentin.Ki-67 positive cells ＜ 1％.The pathologic diagnosis was leptomeningeal diffuse melanocytosis. The patient died 2 months after the surgery.Conclusions NCM is characterized by a focal or diffuse proliferation of melanin-producing cells in both the skin and the leptomeninges.NCM could be compatible with the Dandy-Walker syndrome.Definite diagnosis relies upon the histological data obtained by mean of biopsy.