Progressive Dysautonomia in Two Patients With Xeroderma Pigmentosum Group A

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• 作者：Osamu Kobayashi ; MD ; ^{o-kobayashi@oita-u.ac.jp" class="auth_mail} ; Hiroaki Miyahara ; MD ; Naho Abe ; MD ; Chika Goto ; MD ; Kazuo Okanari ; MD ; Kensuke Akiyoshi ; MD ; Seigo Korematsu ; MD ; PhD ; Tatsuro Izumi ; MD ; PhD
• 关键词：xeroderma pigmentosum group A ; dysautonomia ; vagal reflex ; dysphagia ; gastroesophageal reflux disorder ; neurogenic bladder ; heart rate variability
• 刊名：Pediatric Neurology
• 出版年：June 2014
• 年：2014
• 卷：50
• 期：6
• 页码：619-621
• 全文大小：579 K

文摘

: 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.