PDF(Pubmed)
Abstract：
A 50-year-old male presented to the emergency room after experiencing sudden right upper limb facial numbness and dysphasia, followed by full recovery. A brain CT scan showed hyperdense lesions within the left hemispheric sulcus, which raised suspicion of spontaneous subarachnoid hemorrhage. A T1-weighted MRI showed multiple tiny leptomeningeal enhancements in the same area, and a digital subtraction angiography showed no signs of vascular abnormality. Cerebrospinal fluid cytology revealed atypical melanin-containing cells with minimal pleomorphism. One month later, the patient developed sixth nerve palsy, which was determined to be due to intracranial hypertension. Multiple giant nevi on the legs, trunk, and scalp were also observed. A skin biopsy showed well-defined and symmetrical proliferation of melanocytic nevus cell nests in the dermis. An open biopsy was performed due to the suspicious leptomeningeal lesions, which surprisingly revealed diffuse and thick black-colored tissue infiltration of the leptomeninges. Pathology confirmed the diagnosis of meningeal melanocytosis. A ventriculoperitoneal shunt was then placed, and the patient\'s neurological symptoms gradually improved. Based on the presence of multiple giant nevi on the patient\'s skin and the finding of diffuse meningeal melanocytosis during the open biopsy, the patient was diagnosed with neurocutaneous melanosis. The patient received 6 cycles triweekly of Ipilimumab and Nivolumab 8 months after initial diagnosis. Unfortunately, the disease progressed and the patient passed away 14 months after initial diagnosis.
摘要：
一名50岁的男性在经历了突然的右上肢面部麻木和吞咽困难后出现在急诊室，其次是完全恢复。脑部CT扫描显示左半球沟内高密度病变，这引起了自发性蛛网膜下腔出血的怀疑。T1加权MRI显示同一区域有多个微小的软脑膜增强，数字减影血管造影显示没有血管异常的迹象。脑脊液细胞学检查显示，非典型的含黑色素细胞具有最小的多态性。一个月后,病人出现了第六神经麻痹,这被确定是由于颅内高压。腿上有多个巨大的痣，树干,和头皮也被观察到。皮肤活检显示真皮中黑素细胞痣细胞巢的清晰对称增殖。由于可疑的软脑膜病变，进行了开放活检，令人惊讶的是，它显示了软脑膜的弥漫性和浓密的黑色组织浸润。病理证实诊断为脑膜黑色素细胞增多症。然后进行了脑室-腹腔分流术,患者的神经症状逐渐好转。基于患者皮肤上存在多个巨大痣，以及在开放活检中发现弥漫性脑膜黑素细胞增多，患者被诊断为神经皮肤黑变病。患者在初始诊断后8个月接受了6个周期的伊匹单抗和Nivolumab。不幸的是,疾病进展,患者在初步诊断后14个月死亡.
