van de Warrenburg B P, van Gulik S, Renier W O, Lammens M, Doelman J C
Department of Child Neurology, University Hospital Nijmegen St. Radboud, The Netherlands.
Clin Neurol Neurosurg. 1998 Jun;100(2):126-32. doi: 10.1016/s0303-8467(98)00012-2.
The linear naevus sebaceus syndrome (LNSS) is a phakomatosis, characterized in general by a triad consisting of naevus sebaceus of Jadassohn, seizures, and mental retardation. In addition, a broad spectrum of neurological, ophthalmological, skeletal, urogenital and cardiovascular symptoms may be encountered. According to our literature review, seizures and mental retardation were reported in 67 and 61% of cases, respectively. Because ophthalmological abnormalities (59%) and involvement of other organ systems (61%) occur frequently, we advise avoidance of adhering to the classical triad for recognizing or describing LNSS. Gross structural abnormality of the cerebrum or cranium was frequently observed (72%), consisting mainly of enlargement of one lateral ventricle, hemimegalencephaly and hemimegacranium. We report a case of a male patient with the clinical features of LNSS, but without cerebral developmental abnormalities at autopsy examination.
线状皮脂腺痣综合征（LNSS）是一种错构瘤病，一般特征为三联征，包括 Jadassohn 皮脂腺痣、癫痫发作和智力迟钝。此外，还可能出现广泛的神经、眼科、骨骼、泌尿生殖和心血管症状。根据我们的文献综述，癫痫发作和智力迟钝的报告发生率分别为 67% 和 61%。由于眼科异常（59%）和其他器官系统受累（61%）频繁发生，我们建议避免仅依据经典三联征来识别或描述 LNSS。经常观察到大脑或颅骨的大体结构异常（72%），主要包括一侧侧脑室扩大、半侧巨脑畸形和半侧巨颅畸形。我们报告一例具有 LNSS 临床特征的男性患者，但尸检时未发现脑发育异常。
