Early diagnosis of familial dysautonomia. Case report with special reference to primary patho-physiological findings.

The Riley-Day Syndrome

“…One very characteristic symptom is the rapid myosis after the instillation of 2.5% methacholine, exactly as in the case of Adie's syndrome Goodall et al, 1968], whereas the other collyria (cocaine, physostigmine, phenylephrine or ephedrine) have the same effect as on nor mal subjects. Nevertheless, Shinebourne et al (19671 observed that, although metha choline and physostigmine produce a more marked myosis than in normal subjects, phenylephrine produces a more marked mydriasis, and ephedrine, which produces a mydriasis in a normal subject, has no effect.…”