PMID: 6164695Jun 1, 1980Paper

Congenital sensory neuropathy with anhydrosis-a case report and investigation of autonomic nervous system abnormalities

Journal of Developmental and Behavioral Pediatrics : JDBP
A DanielH Dekirmenjian

Abstract

A review of the clinical profile of congenital sensory neuropathy with anhydrosis is presented. It is stressed that major diagnostic criteria of this recessively inherited condition should be limited to insensitivity to pain with normal tactile perception, anhydrosis, recurrent unexplained fever, self-mutilation, mental retardation, hypotonia, histologically normal sweat glands and variable autonomic abnormality. A case conforming to this description is reported and compared with 13 published cases. Special investigations of the autonomic nervous system through measurement of urinary catecholamine metabolites and psychophysiologic variables were conducted on this patient. Based on the analysis of 5 X 24-hour urine, values of metabolites of dopamine and epinephrine were normal. Metabolites of norepinephrine, such as 3-methoxy-4-hydroxy phenylglycol and normetanephrine, however, were significantly low when compared with those of four controls, suggesting decreased peripheral and central norepinephrine activity. Polygraph recording and evaluation of some orienting response components revealed no obvious signs of autonomic perturbation and, specifically, no phasic electrodermal activity. These two findings (biochemical and electrod...Continue Reading

Citations

Dec 17, 2009·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Masahiro Iijima, Nobuhiko Haga
Sep 1, 1973·Journal of the Neurological Sciences·R AlbercaG Miranda-Nieves
Jan 1, 1980·Clinical Neurology and Neurosurgery·S KaurA Narang
Apr 1, 1995·Pediatric Neurology·N TachiK Minagawa
Oct 22, 2008·The Clinical Journal of Pain·John David Clark
Nov 7, 1998·Pediatric Neurology·M BerkovitchE Lahat
Mar 24, 1999·American Journal of Ophthalmology·R YagevT Lifshitz
Dec 17, 2008·Current Eye Research·Tatsuya MimuraYutaka Awaya

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