Goebel H H
Department of Neuropathology, Mainz University Medical Center, Germany.
Pathol Res Pract. 1994 Aug;190(7):728-33. doi: 10.1016/S0344-0338(11)80757-0.
The neuronal ceroid-lipofuscinoses (NCL) are autosomal-recessive disorders in childhood of unknown enzymatic origin. They can be recognized by the presence of abnormal lipopigments identified by electron microscopy. Based on the study of circulating lymphocytes, individual clinical subtypes of NCL can be correlated. Prenatal diagnosis of NCL with the electron microscope is now feasible for the infantile (Finnish) from (INCL) and late-infantile form (LINCL). INCL-specific granular lipopigments are present in endothelial cells of biopsied chorion stroma vessels of homozygously affected fetuses. In LINCL, disease-typical curvilinear bodies can be identified in uncultured amniotic fluid cells. Prenatal ultrastructural recognition of juvenile NCL (JNCL) is still controversial as only one single case has been reported. Electron microscopic findings can also be corroborated by genetic analysis in INCL and JNCL because the defective genes have been localized to chromosomes 1 and 16, respectively, but not in LINCL. Documentation of the index patients in the family is essential before prenatal diagnosis, and post-abortive confirmation of fetal NCL is also desirable.
神经元蜡样脂褐质沉积症（NCL）是儿童期病因不明的常染色体隐性疾病。通过电子显微镜识别出异常脂色素可诊断该病。基于对循环淋巴细胞的研究，可对NCL的各个临床亚型进行关联分析。目前，利用电子显微镜对婴儿型（芬兰型）婴儿神经元蜡样脂褐质沉积症（INCL）和晚发型婴儿型（LINCL）进行产前诊断是可行的。纯合子受累胎儿活检绒毛膜基质血管内皮细胞中存在INCL特异性颗粒状脂色素。在LINCL中，未培养的羊水细胞中可识别出具有疾病特征的曲线体。由于仅报道过一例，青少年型NCL（JNCL）的产前超微结构识别仍存在争议。在INCL和JNCL中，电子显微镜检查结果也可通过基因分析得到证实，因为缺陷基因分别定位于1号和16号染色体，但LINCL并非如此。产前诊断前，记录家族中的索引患者至关重要，胎儿NCL流产后确诊也很有必要。
