Rotteveel J J, Mullaart R A
Interdisciplinair Kinderneurologisch Centrum, St. Radboudziekenhuis, Nijmegen.
Tijdschr Kindergeneeskd. 1989 Oct;57(5):181-6.
The pathogenesis of the ceroid lipofuscinoses (CLF) is unknown. The various types (infantile, late-infantile, juvenile and adult type of CLF) are characterized by accumulation of ceroïd and lipofuscin material in neuronal and extraneuronal tissues. One of the leading hypotheses claims this accumulation to be due to lipid peroxidation. Therapeutical formula's were introduced by Zeman and subsequently by Santavuori and Westermarck, consisting of antioxidants. We applied the Westermarck-formula in two patients with late-infantile CLF, M. Jansky-Bielschowsky, however, without any therapeutical effect. Application of the formula in 3 patients with the juvenile CLF, the M. Batten-Spielmeyer-Vogt, resulted in a mitigated course of the disease. We concluded that antioxidant therapy in CLF, as applied thus far, has to be considered to be symptomatic rather than causal.
蜡样脂褐质沉积症（CLF）的发病机制尚不清楚。其不同类型（婴儿型、晚婴儿型、青少年型和成人型CLF）的特征是蜡样质和脂褐质物质在神经元和神经外组织中蓄积。一种主要假说认为这种蓄积是由于脂质过氧化所致。泽曼随后由桑塔沃里和韦斯特马克提出了治疗方案，其中包括抗氧化剂。我们将韦斯特马克方案应用于两名晚婴儿型CLF患者，即扬斯基-比尔绍夫斯基病患者，但未产生任何治疗效果。将该方案应用于3名青少年型CLF患者，即巴顿-施皮尔曼-沃格特病患者，病情得到了缓解。我们得出结论，迄今为止应用于CLF的抗氧化治疗应被视为对症治疗而非病因治疗。
