Boustany R M
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Am J Med Genet. 1992 Feb 15;42(4):533-5. doi: 10.1002/ajmg.1320420421.
My experience with more than 80 cases of the late infantile and juvenile forms of the neuronal ceroid-lipofuscinoses over the last 5 years has led to the following realizations. The 2 variants are neurologically distinct entities and probably are the result of different genetic defects. Treatment includes supportive measures and anticonvulsant medication. Therapy for behavioral and psychiatric disturbances in the juvenile type proves to be particularly challenging as neuroleptic medications tend to worsen parkinsonian like symptoms. Neuropathologic and neuroradiologic explanation of clinical symptomatology correlates best with neuronal loss and not neuronal storage. There is a paucity of neuropathologic documentation of these 2 types; additional reports are encouraged.
在过去5年里，我对80多例晚期婴儿型和青少年型神经元蜡样脂褐质沉积症的治疗经验，让我有了以下认识。这两种变体在神经学上是不同的实体，可能是不同基因缺陷的结果。治疗包括支持性措施和抗惊厥药物。事实证明，治疗青少年型的行为和精神障碍极具挑战性，因为抗精神病药物往往会加重帕金森样症状。对临床症状的神经病理学和神经放射学解释与神经元丢失的相关性最佳，而非与神经元储存的相关性。这两种类型的神经病理学文献较少，鼓励更多报告。
