Schreiber D, Quade B
Institut für Pathologische Anatomie, Medizinischen Akademie Erfurt, DDR.
Zentralbl Allg Pathol. 1990;136(1-2):67-76.
Neurofibromatosis was recorded from 30 in 82,249 postmortem cases (0.036%) at the Medical Academy of Erfurt, Institute of Pathological Anatomy, between June 1, 1945 and December 31, 1986, among them 13 cases of classical peripheral neurofibromatosis generalisata Recklinghausen (NgR) and 17 with CNS involvement. These had been 10 males and 7 females who had died at an age from 8 to 77 years (average age and death being 39 years). CNS lesions were preferentially localised in periventricular sections of the third and fourth ventricles and the cerebral aquaeduct, with diffuse gliosis being recorded from 5 cases. Typical bilateral neurofibromatosis of the acoustic nerve was established from three males aged 19, 26 and 30 years. Spinal neurinoma or neurofibroma, meningioma, an astrocytoma of the cervical spinal cord, and leptomeningeal sarcomatosis were also recorded. Additional skeletal abnormalities were exhibited by four cases. Interest is generally growing in CNS involvement in neurofibromatosis due to the possibility of intravital diagnosis by computed tomography (CT) and magnetic resonance spectroscopy (MRI) and because of possible surgical therapy. Recent studies in molecular genetics, on the other hand, have shown classical NgR to be caused by a lesion to chromosome 17, while bilateral neurofibromatosis of the acoustic nerve was found to be based on a genetic defect to the long arm of chromosome 22.
1945年6月1日至1986年12月31日期间，在爱尔福特医学院病理解剖研究所的82249例尸检病例中，有30例记录患有神经纤维瘤病（0.036%），其中13例为典型的全身性周围神经纤维瘤病（雷克林豪森病，NgR），17例累及中枢神经系统（CNS）。这些病例中男性10例，女性7例，死亡年龄在8岁至77岁之间（平均死亡年龄为39岁）。CNS病变主要位于第三和第四脑室以及大脑导水管的脑室周围区域，5例记录有弥漫性胶质增生。3例年龄分别为19岁、26岁和30岁的男性确诊为典型的双侧听神经神经纤维瘤病。还记录了脊髓神经鞘瘤或神经纤维瘤、脑膜瘤、颈段脊髓星形细胞瘤和软脑膜肉瘤病。4例出现了额外的骨骼异常。由于计算机断层扫描（CT）和磁共振波谱（MRI）有可能进行活体诊断以及可能进行手术治疗，人们对神经纤维瘤病累及CNS的兴趣普遍在增加。另一方面，最近的分子遗传学研究表明，经典的NgR是由17号染色体病变引起的，而双侧听神经神经纤维瘤病则是基于22号染色体长臂的基因缺陷。
