Sawamura Y, Abe H, Murai H, Tashiro K, Doi S
Department of Neurosurgery, Hokkaido University, School of Medicine, Sapporo, Japan.
No To Shinkei. 1987 Aug;39(8):789-95.
The authors reported the clinical course and the postmortem examination of a unique case of neurocutaneous melanosis with numerous anomalies and complications, which included congenital dislocation of lenses, hypogonadism, ectopia of prostatic duct, genuine phimose, retentio testis, psina bifida and neurogenic bladder. This 13-year-old boy with a large hairy nevus in a bathing trunk configulation and multiple small nevi over the whole body since his birth was admitted to our hospital for evaluation of headache and vomiting. Neurological examination showed bilateral papilledema and slight left hemiparesis. A CT scan revealed a large right frontal mass and craniotomy was performed with subtotal removal of this tumor which was confirmed as a malignant leptomeningeal melanoma. He initially made uneventful postoperative recovery, and two courses of chemotherapy with DTIC, ACNU and VCR were given; however, the currence of brain tumor ensued shortly thereafter, and he died in approximately six months after the onset of intracranial symptoms despite of the third course of chemotherapy. Thirty five cases of neurocutaneous melanosis associated with or without malignant melanoma have been reported in Japan. Twenty-eight cases were male and 7 female. Two cases showed the evidence of primary malignant melanoma outside of the central nervous system, whereas twenty eight leptomeningeal melanoma, in which 22 were solid and 6 diffuse, were shown intracranially. Other 5 cases had epileptic seizure and/or hydrocephalus caused by wide spreaded leptmeningeal melanosis. This high incidence of intracranial malignant melanoma in this disorder was remarkable compaired with the previous reports in other countries. Mean duration between deaths and the onset of symptoms of intracranial hypertension or focal neurological signs was 7 months, ranging from 1 to 24 months, showing the rapidly deteriorating course in this disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
作者报告了一例独特的神经皮肤黑素沉着病病例的临床病程及尸检情况，该病例伴有众多异常和并发症，包括晶状体先天性脱位、性腺功能减退、前列腺导管异位、真性包茎、睾丸滞留、脊柱裂和神经源性膀胱。这名13岁男孩自出生以来，其躯干有一大片多毛痣，全身还有多个小痣，因头痛和呕吐入院接受评估。神经系统检查显示双侧视乳头水肿和轻度左侧偏瘫。CT扫描发现右侧额叶有一个大肿块，遂进行开颅手术，次全切除该肿瘤，确诊为恶性软脑膜黑色素瘤。他术后初期恢复顺利，并接受了两疗程的达卡巴嗪、阿糖胞苷和长春新碱化疗；然而，不久后脑瘤复发，尽管进行了第三疗程化疗，但他在出现颅内症状后约六个月死亡。在日本已报告35例伴有或不伴有恶性黑色素瘤的神经皮肤黑素沉着病病例。其中28例为男性，7例为女性。2例显示中枢神经系统外有原发性恶性黑色素瘤证据，而28例颅内有软脑膜黑色素瘤，其中22例为实性，6例为弥漫性。其他5例因广泛的软脑膜黑素沉着病导致癫痫发作和/或脑积水。与其他国家先前的报告相比，该疾病中颅内恶性黑色素瘤的高发病率显著。死亡与颅内高压或局灶性神经体征症状发作之间的平均持续时间为7个月，范围为1至24个月，表明该疾病病程迅速恶化。（摘要截短至250字）
