Menu
Menu
19 Harley St, London, W1G 9QJ, UK

Progressive dysautonomia in two patients with xeroderma pigmentosum group A.

Related Articles

Progressive dysautonomia in two patients with xeroderma pigmentosum group A.

Pediatr Neurol. 2014 Jun;50(6):619-21

Authors: Kobayashi O, Miyahara H, Abe N, Goto C, Okanari K, Akiyoshi K, Korematsu S, Izumi T

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.

PMID: 24679606 [PubMed – indexed for MEDLINE]

Share to care...

Share on facebook
Facebook
Share on twitter
Twitter
Share on pinterest
Pinterest
Share on google
Google+
Share on linkedin
LinkedIn
Share on skype
Skype

What we do...

The Harley Street Hospital

Testimonials

What is London spine unit and How it Works

The London Spine Unit was established in 2005 and has successfully treated over 5000 patients. All conditions are treated.

We treat all spinal disorders

The London Spine Unit specialises in Minimally Invasive Treatments allowing rapid recovery and return to normal function

Trusted by patients worldwide

The London Spine Unit provides the highest quality care to all patients and has VIP services for those seeking exceptional services

What our patients say about us ......

Degenerate lumbar disc

I received a lot of information on pre and post procedure. Overall, it was a positive experience considering the inconvenience of going through a surgical

Read More »