QSART Abnormalities in Cold-Induced Sweating Syndrome Type 1 (P5.107)

OBJECTIVE: To report Quantitative sudomotor axon reflex test (QSART) abnormalities in genetically confirmed Cold-Induced Sweating Syndrome Type 1 BACKGROUND: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive disorder characterized by profuse sweating in a cold environment. It is due to mutations in cytokine receptor-like factor 1 (CRLF1). DESIGN/METHODS: A 19-year old right handed male complains of excessive sweating in a cold environment since the age 3 which predominately affecting the hands and chest. He also has a history of failure to thrive that required percutaneous endoscopic gastrostomy (PEG) placement. On examination, he has dysmorphic hands and scoliosis. He has bilateral elbow and bilateral finger contractures. His mother’s first cousin married father’s first cousin and they have an infant son who presented in similar ways to our patient. He has a confirmed mutation in CRLF1. He was started on clonidine, which helped significantly to control his cold induced sweating. QSART showed reduction of the sweat volume at the proximal and distal leg sites. The patient was asymptomatic during tilt table testing with significant orthostatic hypotension. Valsalva morphology and heart rate response to deep breathing was normal. CONCLUSIONS: QSART showed no length-dependent reduction in the sudomotor function in genetically confirmed Cold-Induced Sweating Syndrome Type 1. Disclosure: Dr. Ferdous has nothing to disclose. Dr. Tantikittichaikul has nothing to disclose. Dr. Ali has nothing to disclose. Dr. Alam has nothing to disclose. Dr. Eldokla has nothing to disclose.