Tridon P, Vidailhet C, Schweitzer F
Clinique de neuropsychiatrie infantile, Institut J.-B. Thiery, Maxeville-Nancy, France.
Pediatrie. 1989;44(6):455-8.
The authors report the case of a 10-year-old girl who died after suffering from severe erythromelalgia combined with digestive and general disorders associated with multiple vegetative disturbances (high blood pressure, hypothermia, colic and urinary disorders, raised catecholamine levels) for 2 years. Although the appearance of the tongue was normal and in spite of the absence of genetic criteria the diagnosis of Riley-Day dysautonomia was made and its association with neural crest disorders was indicated.
作者报告了一名10岁女孩的病例,该女孩在患有严重红斑性肢痛症并伴有消化和全身紊乱(与多种自主神经功能障碍相关,如高血压、体温过低、绞痛和泌尿系统疾病、儿茶酚胺水平升高)达2年后死亡。尽管舌头外观正常,且缺乏遗传标准,但仍做出了赖利-戴自主神经功能异常的诊断,并指出其与神经嵴疾病有关。