This view has changed with recognition of a congenital syndrome of severe orthostatic hypotension, noradrenergic failure, and ptosis of the eyelids in two young adults. The syndrome differs from familial dysautonomia and various other autonomic disorders seen in adults in that the defect can be localized to the noradrenergic and adrenergic tissues. There is virtual absence of norepinephrine, epinephrine, and their metabolites. However, there is greatly increased dopamine in plasma, cerebrospinal fluid, and urine.
As children, DBH deficient patients have had a markedly reduced ability to exercise, perhaps because of hypotension engendered by the physical exertion. Because of occasional syncope, anticonvulsive medications have been given in some patients, even though no abnormality was seen on the electroencephalogram. Symptoms have generally worsened in late adolescence and by early adulthood, patients complain of profound orthostatic hypotension, especially early in the day and during hot weather or after alcohol ingestion. In addition to ptosis of the eyelids, there is reduced exercise tolerance, a tendency for nasal stuffiness to occur, especially in the supine posture. A male patient had appropriate erectal function, but retrograde rather than antegrade ejaculation. Presyncopal symptoms in these patients have included dizziness, blurred vision, dyspnea, nuchal discomfort, and occasionally chest pain.
