Familial Dysautonomia in a Non–jewish Child

Abstract

Few documented cases of Riley-Day syndrome fulfilling current diagnostic criteria have been recognized in non-Jews. In our case the diagnosis was established in a Norwegian child despite the absence of Jewish origin. It represents a report of this syndrome with bilateral pathological changes in the hypothalamus in addition to extensive abnormal findings in the spinal cord and the autonomic ganglia. These findings may have significance with regard to the pathogenesis of the disease.

Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31

“…The diagnosis of FD is based on the following cardinal criteria: absence of fungiform papillae on the tongue; absence of axon flare after injection of intradermal histamine; decreased or absent deep tendon reflexes; absence of overflow emotional tears; and, because of its high prevalence in this population, Ashkenazi Jewish ancestry (Brunt and McKusick 1970;Axelrod 1984;Axelrod and Pearson 1984). There have been rare reports of non-Jewish FD patients (Suzuki et al 1976;Levine et al 1977;Orbeck and Oftedal 1977;Metha 1978;Harris et al 1980;Klebanoff and Neff 1980). We have examined two patients from these families (Levine et al 1977;Orbeck and Oftedal 1977) and have determined that they were affected with congenital sensory neuropathies other than FD.…”

“…There have been rare reports of non-Jewish FD patients (Suzuki et al 1976;Levine et al 1977;Orbeck and Oftedal 1977;Metha 1978;Harris et al 1980;Klebanoff and Neff 1980). We have examined two patients from these families (Levine et al 1977;Orbeck and Oftedal 1977) and have determined that they were affected with congenital sensory neuropathies other than FD. Therefore, non-Jewish FD probably is exceedingly rare, and Ashkenazi ancestry remains an important criterion of the disease.…”

Incidence of familial dysautonomia in Israel 1977–1981

“…The disease is found almost exclusively in Ashkenazi Jews whose origin is predom-inantly from eastern European areas (Brunt & McKusick 1970). Although the disease generally affects those of Jewish origin, there are a few reports in the literature of FD with non-Jewish ancestry (Brunt & McKusick 1950, Mensher 1975, Suzulri et al 1976, Orbeck & Oftedal 1977, Klebanoff dc Neff 1980. However, detailed consideration of these cases has revealed that they do not always fulfill the strict diagnostic criteria suggested by Riley & Moore (1966).…”

Congenital analgia syndrome

“…Autosomal dominant transmission has been suggested, 3 but, in cases in which the condition has been documented in several members of a family, autosomal recessivity seems best to explain the mode of transmission. 4,5 According to Leiber and Olbrich,1 it is, in all probability, a simple recessive congenital disease.…”