EARLY DIAGNOSIS OF FAMILIAL DYSAUTONOMIA - CASE REPORT WITH SPECIAL REFERENCE TO PRIMARY PATHO-PHYSIOLOGICAL FINDINGS

The features and diagnosis of familial dysautonomia have been illustrated by observations on an English child diagnosed at 6 weeks of age. Under light microscopy normal ganglia and nerve endings were demonstrated in skin and rectal biopsies. There was presumptive evidence of acetylcholine production at nerve endings, and catecholamine metabolism was normal. Neurological findings show impairment of common and special sensation, and of local axon and spinal reflex arcs, as well as of autonomic function. These findings would be compatible with a functional defect at the cell membrane.