Tonholo-Silva E R, Takahashi S I, Yoshinaga L
Department of Pediatrics, Faculdade de Medicina de Marília (FMM), SP, Brasil.
Arq Neuropsiquiatr. 1994 Mar;52(1):103-5. doi: 10.1590/s0004-282x1994000100021.
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.
家族性自主神经功能障碍，也称为莱利-戴综合征，是一种常染色体隐性遗传的自主神经系统疾病。可发现无髓鞘和小髓鞘纤维减少和/或缺失，同时血液中的多巴胺β-羟化酶也减少。诊断基于临床特征：泪液分泌减少、痛觉迟钝、体温调节不良、深腱反射消失、体位性低血压、呕吐发作、运动协调性差和智力发育迟缓。治疗以对症治疗为主，许多儿童在生命的最初几年死亡，通常是反复吸入性肺炎所致。我们报告一例1岁家族性自主神经功能障碍患儿的病例。
