所属 埼玉医科大学 医学部 総合医療センター 小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター） 職種 教授
|Progressive dysautonomia in two patients with xeroderma pigmentosum group A.
|ELSEVIER SCIENCE INC
|Osamu Kobayashi,Hiroaki Miyahara,Naho Abe,Chika Goto,Kazuo Okanari,Kensuke Akiyoshi,Seigo Korematsu,Tatsuro Izumi
|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 fromthe 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.