Alkhars Fatimah Z, Bo Ali Ahmed Y, Almohanna Mostafa A, Almajhad Nabil A
College of Medicine, King Faisal University, Alahsa, Kingdom of Saudi Arabia. E-mail:
Neurosciences (Riyadh). 2020 Jan;25(1):65-69. doi: 10.17712/nsj.2020.1.20190103.
Neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases that presents in childhood and are characterized by seizures and progressive neurological deterioration, which results in dementia, ataxia, visual failure, and various forms of abnormal movement. The most common form of neuronal ceroid lipofuscinoses is late infantile (LI-NCL), in association with the genes CLN2, CLN5, CLN6, and CLN8. We report the cases of neuronal ceroid lipofuscinoses type 8 in 3 patients from 2 unrelated families, which was confirmed by molecular testing in 2 of them. Multiple spontaneous abortions, early death, and early onset of motor disability were observed in our cases, reflecting a possible association of NCL 8 with other unrecognized neurodegenerative diseases. Our results expand the genotypic/phenotypic background of variant late Infantile-NCL in Arabic ethnicity.
神经元蜡样脂褐质沉积症（NCLs）是儿童期最常见的一组神经退行性疾病，其特征为癫痫发作和进行性神经功能恶化，最终导致痴呆、共济失调、视力丧失及各种形式的异常运动。最常见的神经元蜡样脂褐质沉积症类型是晚发性婴儿型（LI-NCL），与CLN2、CLN5、CLN6和CLN8基因相关。我们报告了来自2个无亲缘关系家庭的3例8型神经元蜡样脂褐质沉积症患者，其中2例经分子检测确诊。我们的病例中观察到多次自然流产、早亡和运动功能障碍的早发，这反映出NCL 8可能与其他未被认识的神经退行性疾病有关。我们的结果扩展了阿拉伯族裔中变异型晚发性婴儿型NCL的基因型/表型背景。
