Peña J A, Cardozo J, González S, Luna D
Servicio de Neurología Pediátrica, Hospital Universitario de Maracaibo, Venezuela.
Rev Neurol. 2000;31(3):283-7.
We discuss the historical, epidemiological, clinical, complementary tests and neuropathological details of ceroid-lipofuscinoses in children.
Initially, we review the basic concepts and historical details of the disorders, and the frequency and distribution of the different clinical forms. Subsequently, we review the subtypes and variants most commonly found in children, together with the elements necessary for diagnosis. Finally we analyze the neuropathological studies and their clinical correlation.
The clinical diagnosis of ceroid-lipofuscinoses should be based on a clinical history showing disorders of vision, convulsions and regression of psychomotor functions. Neuroimaging findings, neurophysiological changes and ultrastructural studies confirm the diagnosis.
我们讨论儿童蜡样脂褐质沉积症的历史、流行病学、临床、辅助检查及神经病理学细节。
首先，我们回顾这些疾病的基本概念和历史细节，以及不同临床类型的发病率和分布情况。随后，我们回顾儿童中最常见的亚型和变异型，以及诊断所需的要素。最后，我们分析神经病理学研究及其临床相关性。
蜡样脂褐质沉积症的临床诊断应基于显示视力障碍、惊厥和精神运动功能衰退的临床病史。神经影像学检查结果、神经生理学变化和超微结构研究可确诊。
