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Pediatr Neurol. 2001 Nov;25(5):397-400.

Neurophysiologic studies in congenital insensitivity to pain with anhidrosis.

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  • 1Pediatric Division, Soroka Medical Center and the Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.


Thirteen patients with congenital insensitivity to pain and anhidrosis, carrying a mutation at the TRK-A gene, were studied. Neurologic examination revealed vestigial pain sensitivity, suggesting an incomplete involvement of the affected nerves. All 13 patients manifested normal electrophysiologic studies but striking absence of sympathetic skin responses. We suggest the use of the sympathetic skin response test in the clinical evaluation of patients suspected of having congenital insensitivity to pain and anhidrosis.

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