Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1.

Abstract

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). The characteristic symptom of CISS is the tendency to sweat profusely especially in the upper body and hands when the patient is exposed to cold temperature. We sought to first report the findings of autonomic reflex screen in a case of CISS type 1 with Cytokine receptor-like factor 1 mutation. Valsalva morphology, Valsalva ratio, and heart rate response to deep breathing were normal for the patient's age. Quantitative sudomotor axon reflex test showed nonlength dependent decrease in the sweat volume. Tilt table revealed evidence of reflex (vasovagal) "syncope," however, the patient was asymptomatic without loss of consciousness.

• Authors: Ahmed M El-Dokla, Jannatul Ferdous, Sara T Ali, Khondoker Alam
• Journal: Journal of clinical neuromuscular disease (J Clin Neuromuscul Dis) Vol. 19 Issue 2 Pg. 76-79 (Dec 2017) ISSN: 1537-1611 [Electronic] United States
• PMID: 29189552 (Publication Type: Case Reports, Journal Article)

Chemical References

• Sympatholytics
• Clonidine

Topics

• Autonomic Nervous System (physiopathology)
• Clonidine (therapeutic use)
• Death, Sudden
• Facies
• Hand Deformities, Congenital (diagnosis, drug therapy, physiopathology)
• Heart Rate (physiology)
• Humans
• Hyperhidrosis (diagnosis, drug therapy, physiopathology)
• Male
• Neural Conduction (physiology)
• Reflex (physiology)
• Sympatholytics (therapeutic use)
• Trismus (congenital, diagnosis, drug therapy, physiopathology)
• Valsalva Maneuver (physiology)
• Young Adult