PDF(Pubmed)
Abstract：
Neuronal ceroid lipofuscinosis type 7 (NCL7) is a rare form of childhood dementia; it is part of a group of diseases characterized by rapid progressive cognitive decline, blindness associated with retinitis pigmentosa, and seizures. We report the clinical and molecular characteristics of the first Mexican patient with NCL7, highlighting a particularly atypical disease course. The typical presentation form is expected to have reduced life expectancy and an average age of ambulation loss at 12 years. Our 27-year-old patient retains the ability to walk. The patient\'s unique presentation could, in part, be attributed to her genetic profile: a hypomorphic allele carrying a missense variant (c.1390G>A) and an almost null allele with a frameshift variant (c.1086del), contributing to the preservation of some protein function. Throughout her childhood and early adulthood, our patient experienced a variable response to antiseizure drugs, attributed to a lack of recognition of the disease and the specific efficacy of certain antiseizure medications. Our findings underscore the significance of considering this genetic condition and acknowledging its clinical heterogeneity.
摘要：
神经元类脂褐菌病7型（NCL7）是一种罕见的儿童痴呆症;它是一组以快速进行性认知衰退为特征的疾病的一部分，与色素性视网膜炎相关的失明，和癫痫发作。我们报告了首例NCL7墨西哥患者的临床和分子特征，突出了一个特别不典型的病程。典型的演示形式预计将减少预期寿命，平均步行时间为12岁。我们27岁的病人保持行走的能力。患者的独特表现可能，在某种程度上,归因于她的遗传概况：带有错义变体的低态等位基因（c.1390G>A）和带有移码变体的几乎无效等位基因（c.1086del），有助于保持某些蛋白质的功能。在她的童年和成年早期，我们的病人对抗癫痫药物有不同的反应，归因于缺乏对疾病的认识和某些抗癫痫药物的特定疗效。我们的发现强调了考虑这种遗传状况并承认其临床异质性的重要性。
