title: Variation of muscular structure in congenital insensitivity to pain and anhidrosis.
abstract: Congenital insensitivity to pain with anhidrosis is a rare disease affecting the nervous system. The patients present with unexplained fever from poor thermoregulation and inability to sweat. Because of the indifference to pain, they manifest frequent traumatic and infectious injuries. Evaluations of these patients include investigation of the hypotonia and weakness evident in this group of patients. We report four patients presenting characteristic features of congenital insensitivity to pain with anhidrosis who carry an identical mutation in the TRK-A gene and who underwent nerve and skeletal muscle biopsies. All four patients had normal sensory and motor conduction studies but lacked sympathetic skin responses. Examination of the skeletal muscles biopsies obtained from two of the patients disclosed marked myopathic changes. The muscle biopsy of a third patient showed mild variation in muscle fibers and the fourth patient's muscle biopsy showed type 1 fiber predominance. Electron microscopy studies revealed remarkable decrease in the number of small caliber-myelinated and unmyelinated nerve fibers. We assume that the variable histological findings in the muscle biopsies of these patients reflect a variation in congenital insensitivity to pain with anhidrosis patients that is not related to their genetic mutation.
authors.affiliation: Department of Pediatrics, Soroka Medical Center and the Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.
authors.forename: Zamir
authors.initials: Z
authors.lastname: Shorer
authors.forename: Ruth
authors.initials: R
authors.lastname: Shaco-Levy
authors.forename: Vered
authors.initials: V
authors.lastname: Pinsk
authors.forename: Leonid
authors.initials: L
authors.lastname: Kachko
authors.forename: Jacov
authors.initials: J
authors.lastname: Levy
mesh_terms: D000293:Adolescent; D002648:Child; D015331:Cohort Studies; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D012189:Retrospective Studies