Live Video Consultation
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

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]

Progressive dysautonomia in two patients with xeroderma pigmentosum group A | Https//wwwenglandnhsuk/commissioning/wp-content/uploads/sites/12/2015/10/d14-pa-cerv-disc-replcmnt-spnl-degenpdf

What our patients say ...

Consultant Spine Surgeon
Consultant Spine Surgeon
Consultant Spine Surgeon

This surgical technique consists of a percutaneous approach for the treatment of small to medium size hernias of the intervertebral disc by laser energy. The main objective is to reduce the intradiscal pressure in the nucleus pulposus

Laser Disc Surgery can be performed under local anaesthetic as a day case at our centre on the prestigious Harley Street.
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.

treatment of 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

If you have any emergency Doctor’s need, simply call our 24 hour emergency

Your personal case manager will ensure that you receive the best possible care.

Call Now 

+44 844 589 2020
+44 203 973 8810