Evaluation of Congenital Dysautonomia Other Than Riley-Day Syndrome

Abstract

We report on four children, from different families, who suffer from a congenital autonomic disorder, presumably inherited. Three of them have a sensory neuropathy but do not fit any described hereditary sensory and autonomic neuropathy. All four were examined along with some of their immediate family members. We assessed the cardiovagal, sympathetic adrenergic and sympathetic cholinergic functions with a battery of non-invasive tests.

Results demonstrated that sudomotor and cardiovascular orthostatic regulation exhibited the greatest abnormalities, pointing to a predominant impairment of sympathetic components, both cholinergic and adrenergic. The overall examination showed a heterogeneous group of congenital dysautonomia, exclusive of Riley-Day or other recognized hereditary sensory and autonomic neuropathies.

We emphasize the importance of studying whole family groups to diagnose subclinical impairment and to provide correct genetic counselling.

Key words

Congenital dysautonomia - Riley-Day - Hereditary sensory and autonomic neuropathies