Peña J A, Montiel-Nava C, Delgado W, Hernández M L, Cardozo J J, Mora E, Soto-Faneite L
Neurología Pediátrica, Hospital Universitario de Maracaibo, Facultad de Medicina-La Universidad del Zulia, Maracaibo, Zulia, Venezuela.
Rev Neurol. 2004;38(1):42-8.
Neuronal ceroid lipofuscinosis (NCL), represents a group of inherited neurodegenerative disorders. Based on the age of the patient at onset, clinical course and ultrastructural morphology it has been identified three clinical types for the pediatric group: 1) Infantile NCL (INCL); 2) Late infantile NCL (LINCL); and 3) Juvenile NCL (JNCL). Other variants or atypical forms represent around 20% of the NCL in different populations. Genetic advances have made possible a better characterization, diagnostic and classification of these disorders.
We present the clinical, neurophysiological, neuroradiological, and morphological data from 6 patients with NCL, who were assessed at the pediatric neurology department of the Hospital Universitario de Maracaibo during a ten years period (1993 2003). All 6 cases corresponded with the late infantile form. Age of onset ranged form 2 to 5 years. For most of the patients initial symptoms included seizures, psychomotor delay, accompanied by macular degeneration and optic atrophy. The EEG was characterized by high voltage spikes elicited by low frequency photic stimulation, in 5 cases. Neuroimaging findings were characteristic of the late infantile form of the NCL. In three patients a decreased intensity of signal was seen in the thalami and putamen on T2-weighted images. The ultrastructural examination of the samples obtained through a biopsy showed curvilinear bodies in all patients.
There is not epidemiological data of the NCL in Venezuela; it is presumed the presence of clinical forms and variants in the pediatric group. This first study could contribute to the knowledge and a better research of this group of disorders in our population.
神经元蜡样脂褐质沉积症（NCL）是一组遗传性神经退行性疾病。根据患者发病年龄、临床病程和超微结构形态，已确定儿童组有三种临床类型：1）婴儿型NCL（INCL）；2）晚婴儿型NCL（LINCL）；3）青少年型NCL（JNCL）。其他变异型或非典型形式在不同人群中约占NCL的20%。遗传学的进展使对这些疾病进行更好的特征描述、诊断和分类成为可能。
我们展示了6例NCL患者的临床、神经生理学、神经放射学和形态学数据，这些患者在10年期间（1993 - 2003年）在马拉开波大学医院儿科神经科接受了评估。所有6例均符合晚婴儿型。发病年龄在2至5岁之间。大多数患者的初始症状包括癫痫发作、精神运动发育迟缓，伴有黄斑变性和视神经萎缩。5例患者的脑电图特征为低频光刺激诱发的高电压尖波。神经影像学表现为晚婴儿型NCL的特征。3例患者在T2加权图像上丘脑和壳核信号强度降低。通过活检获得的样本的超微结构检查显示所有患者均有曲线体。
委内瑞拉没有NCL的流行病学数据；据推测儿童组存在临床类型和变异型。这项首次研究有助于我们了解和更好地研究我国人群中的这组疾病。
