Progressive dysautonomia in two patients with xeroderma pigmentosum group A

Abstract

Background: Xeroderma pigmentosum group A (XPA) is a rare autosomal-recessive disorder caused by a defect in nucleotide excision repair. Progressive dysautonomia in patients with XPA is rarely described.

Patients: Two juvenile male patients with XPA suffered from dysphagia, sleep interruption, and dysuria from the age of 10 to 19 years, successively. These autonomic symptoms might have been caused by progressive descending degeneration of cranial nerves IX and X and the sacral parasympathetic nerve, including Onuf's nucleus. One patient died from sudden cardiopulmonary arrest during postural change and tracheal suction.

Results: Heart rate variability analyses of these patients revealed parasympathetic dysautonomia, based on decreased high-frequency values.

Conclusions: The insidiously progressive dysautonomia in these two patients with XPA suggested progressive descending degeneration extending from the medulla oblongata to the sacral spinal cord, which is an ominous sign of end-stage disease and a risk factor of sudden death attributable to XPA.

Keywords: dysautonomia; dysphagia; gastroesophageal reflux disorder; heart rate variability; neurogenic bladder; vagal reflex; xeroderma pigmentosum group A.