Early Diagnosis of Familial Dysautonomia

The symptoms and signs of familial dysautonomia were first gathered into a clinical entity by Riley et al. in 1949. A review by Riley and Moore published in 1966 reveals how much has since been elucidated about the condition and how much still remains obscure. Most of the cases reported come from the USA, though the majority of the patients are of Jewish extraction and have ancestors who come from Eastern Europe (P. Brunt, 1967, personal communication; publication pending). It, therefore, seems likely that the paucity of reports in the British literature (McKendrick, 1958; Hutchison and Hamilton, 1962; Russell and Avery, 1963) reflects a failure to recognize or report rather than a scarcity of such immigrants in the United Kingdom. This report concerns an English child diagnosed as having the condition at the age of 6 weeks. Apart from the 24-hour-old sib of a known case described by Geltzer et al. (1964), recognition of the condition at an earlier age has not been documented. The early diagnosis allowed a distinction to be made between those pathological changes that were primary features of the condition and those that occurred secondarily.