PDF(Pubmed)
Abstract：
Neurocutaneous melanocytosis (NCM) is a rare, sporadic neuroectodermal dysplasia characterized by the presence of large or multiple congenital cutaneous nevi and melanocytic deposits in the central nervous system. Hitherto, unreported we describe a case of NCM with optic neuropathy and spinal cord melanoma from India. A 20 year-old-lady had headache and vomiting for 3 months followed by consecutive profound painless visual impairment. Visual acuity was counting of fingers at 1 m distance in both eyes with normal fundus. There were no symptoms of spinal cord involvement. Clinical examination showed multiple small to large melanocytic nevi over the face and body. Muscle power was normal. Tendon reflexes were exaggerated. Visual evoked potential showed bilateral prolonged P100 latency (Right eye - 144 msec; Left eye - 151 msec). Brain MRI revealed leptomeningeal enhancement of brainstem, cerebellum, oculomotor and facial-abducent nerve complex without optic nerve involvement. MRI spine showed extensive dorsal thoracic cord epidural lesion extending along the entire thoracic cord segment with dorsal cord compression. Positron Emission Tomography (PET) imaging showed Fludeoxyglucose F18 (FDG) avidity along D1-D12 levels of spinal cord. Biopsy from the cord lesion was suggestive of meningeal melanoma. Here we document a rare case of late onset NCM with intracranial meningeal infiltration and asymptomatic large epidural lesion of spinal cord, expanding its phenotypic spectrum. Optic neuropathy in NCM has not been reported earlier. Periodic screening of brain and spine is recommended for early prognostication and lesion identification in NCM.
摘要：
神经皮肤黑素细胞增多症（NCM）是一种罕见的，散发性神经外胚层发育不良，其特征是中枢神经系统中存在大量或多个先天性皮肤痣和黑素细胞沉积物。到目前为止，未报道，我们描述了来自印度的NCM伴视神经病变和脊髓黑色素瘤的病例。一位20岁的女士头痛和呕吐3个月，随后连续出现严重的无痛性视力障碍。视力是指在正常眼底的两只眼睛中在1m距离处计数手指。没有脊髓受累的症状。临床检查显示面部和身体上有多个小到大的黑素细胞痣。肌肉力量正常。肌腱反射被夸大了。视觉诱发电位显示双侧P100潜伏期延长（右眼-144毫秒；左眼-151毫秒）。脑部MRI显示脑干软脑膜增强，小脑,无视神经受累的动眼神经和面外神经复合体。MRI脊柱显示广泛的背侧胸髓硬膜外病变沿整个胸髓段延伸，背侧脊髓受压。正电子发射断层扫描（PET）成像显示沿脊髓D1-D12水平的氟脱氧葡萄糖F18（FDG）亲和力。脊髓病变活检提示脑膜黑色素瘤。在这里，我们记录了一例罕见的晚发性NCM，伴有颅内脑膜浸润和无症状的脊髓大硬膜外病变，扩大其表型谱。NCM中的视神经病变尚未早期报道。在NCM中，建议对大脑和脊柱进行定期筛查以进行早期预测和病变识别。
