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

Area of Science:

• Genetics
• Neurology
• Physiology

Background:

• Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder.
• It is caused by mutations in the Cytokine receptor-like factor 1 (CRLF1) gene.
• CISS is characterized by excessive sweating, particularly on the upper body and hands, upon cold exposure.

Observation:

• This study reports the autonomic reflex screen findings in a patient with CISS type 1 and a CRLF1 mutation.
• Standard autonomic function tests including Valsalva maneuver and heart rate response to deep breathing were within normal limits for age.
• Quantitative sudomotor axon reflex testing indicated a non-length-dependent reduction in sweat volume.

Findings:

• The patient exhibited a non-length-dependent decrease in sweat volume.
• Tilt table testing suggested evidence of reflex (vasovagal) syncope.
• Notably, the patient remained asymptomatic during the tilt table test, without experiencing loss of consciousness.

Implications:

• These findings contribute to understanding the autonomic nervous system dysfunction in CISS.
• The results highlight the utility of comprehensive autonomic testing in diagnosing and characterizing CISS.
• Further research is warranted to elucidate the precise mechanisms linking CRLF1 mutations to sudomotor and cardiovascular autonomic abnormalities.