Topçu Meral, Tan Hüseyin, Yalnizoğlu Dilek, Usubütün Alp, Saatçi Işil, Aynaci Müjgan, Anlar Banu, Topaloğlu Haluk, Turanli Güzide, Köse Gülşen, Aysun Sabiha
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2004 Jan-Mar;46(1):1-10.
Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features include seizures, ataxia, myoclonus, loss of vision, and mental and motor deterioration. Although the disease is widely seen across the world, there seems to be an information gap in Asian countries. To date, no comprehensive and detailed studies on NCL have been carried out in Turkey. However, one could predict that the disease is rather frequent in Turkey due to high rates of consanguineous marriages. Thirty-six Turkish patients were evaluated in this study. Sixteen (44.5%) patients were girls, and 20 (55.5%) were boys. Parents were consanguineous in 25 families (80%). In five families (14%), the disease was seen in two sibs. The diagnosis was based on clinical evaluation, and neurophysiological, neuroradiologic, enzymatic, and histopathological studies. Electron microscopic study was the main diagnostic laboratory test. Three patients were classified as infantile NCL, 11 were late infantile NCL, 5 were juvenile type NCL and 17 patients were Turkish variant NCL. In juvenile type, major initial symptom was visual impairment, whereas in all other types seizures were predominantly the first symptom at the onset of the disease. The initial symptoms of Turkish variant NCL were similar to those of late infantile type. Similar age at clinical symptoms and the presence of visual symptoms were common features of Turkish variant and juvenile NCL. Compared to late infantile NCL, Turkish variant, showed a more severe course regarding seizures. Electroencephalogram (EEG) showed abnormal features predominantly in Turkish variant, and were remarkable for occipital spikes. In patients with Turkish variant magnetic resonance imaging of the brain showed brainstem involvement, especially pons, in all patients except one; cerebral and cerebellar atrophy were seen with a slower course compared to late infantile NCL. Clinical picture of NCL in advanced stages of the disease was similar regardless of the subtype.
神经元蜡样脂褐质沉积症（NCL）是儿童期最常见的进行性神经退行性疾病之一。NCL以常染色体隐性性状遗传，其特征是“蜡样脂褐质”在神经元和神经外细胞中蓄积。临床特征包括癫痫发作、共济失调、肌阵挛、视力丧失以及精神和运动功能退化。尽管该疾病在世界各地广泛存在，但亚洲国家似乎存在信息缺口。迄今为止，土耳其尚未开展关于NCL的全面而详细的研究。然而，由于近亲结婚率较高，可以推测该疾病在土耳其相当常见。本研究对36例土耳其患者进行了评估。16例（44.5%）患者为女孩，20例（55.5%）为男孩。25个家庭（80%）的父母为近亲结婚。5个家庭（14%）中，该疾病在两个兄弟姐妹中出现。诊断基于临床评估以及神经生理学、神经放射学、酶学和组织病理学研究。电子显微镜检查是主要的诊断性实验室检查。3例患者被归类为婴儿型NCL，11例为晚婴儿型NCL，5例为青少年型NCL，17例患者为土耳其变异型NCL。在青少年型中，主要的初始症状是视力障碍，而在所有其他类型中，癫痫发作主要是疾病发作时的首发症状。土耳其变异型NCL的初始症状与晚婴儿型相似。临床症状出现时年龄相似以及存在视觉症状是土耳其变异型和青少年型NCL的共同特征。与晚婴儿型NCL相比，土耳其变异型在癫痫发作方面病程更为严重。脑电图（EEG）主要在土耳其变异型中显示异常特征，以枕叶棘波显著。在土耳其变异型患者中，除1例患者外，所有患者的脑部磁共振成像均显示脑干受累，尤其是脑桥；与晚婴儿型NCL相比，脑萎缩和小脑萎缩的病程较慢。无论亚型如何，该疾病晚期的NCL临床表现相似。
