INFANTIL NEUROAXONAL DYSTROPHY: A CASE REPORT

Infantile neuroaxonal dystrophy is a rare, hereditary neurodegenerative disease that begins before the end of the second year of life, after an interval of normal psychomotor development caused by Biallelic mutations in the PLA2G6 gene in the most of cases. It is characterized by progressive motor and cognitive deterioration leading to a bedridden state and death before the end of the first decade. We report the case of a two and a half year patient who showed psychomotor regression with ophthalmological damage, truck hypotonia and impaired visual contact as the main neurological signs. Infantile neuroaxonal dystrophy is a rare and serious disease in children with a risk of generally fatal complications, but it remains a preventable disease thanks to genetic counselling.

婴儿型神经轴索营养不良（Infantile neuroaxonal dystrophy）是一种罕见的遗传性神经退行性疾病，多数病例由PLA2G6基因的双等位基因突变引发。患者在出现症状前会经历一段正常的精神运动发育阶段，随后于2岁末之前起病。该病以进行性运动与认知功能衰退为特征，最终可导致患者卧床，并在10岁前死亡。本文报告1例2.5岁患儿，其主要神经科表现为精神运动倒退、眼部损害、躯干肌张力低下及视觉接触障碍。婴儿型神经轴索营养不良是一种罕见且严重的儿童疾病，并发症通常可致命，但通过遗传咨询可实现有效预防。