title: Etiologic spectrum of biopsy-proven peripheral neuropathies in childhood from a resource-poor setting.
abstract: There are only a few studies describing the etiologic spectrum of biopsy-proven peripheral neuropathies in children. This study reviewed the clinical, electrophysiological, and pathologic profile of 239 children (≤18 years of age) who have undergone nerve biopsy in a tertiary care centre for neurologic disorders and analyzed the etiologic spectrum and utility of nerve biopsy. The clinical profile, neuropathologic findings, and other investigations were combined to infer the final diagnosis. Neuropathy was detected in 199 biopsies; axonal pathology in 43%; demyelination in 41%; mixed pattern in 8%; and nonspecific findings in 8%. The major diagnostic categories included hereditary neuropathies (48%), heredodegenerative and metabolic disorders (27%), and inflammatory neuropathies (12%). Nerve biopsy proved most helpful in diagnosis of demyelinating and inflammatory neuropathies, reiterating its usefulness in specific situations.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, India.
authors.forename: Pramod
authors.initials: P
authors.lastname: Krishnan
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Mahadevan
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, India.
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, India.
authors.forename: Yasha T
authors.initials: YT
authors.lastname: Chickabasaviah
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore, India abtaly@yahoo.com.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
mesh_terms: D000293:Adolescent; D001369:Axons / Q000473:pathology*; D001706:Biopsy / Q000379:methods; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000473:pathology*; D004594:Electrophysiology; D005260:Female; D006801:Humans; D007249:Inflammation / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology
keywords: Charcot-Marie-Tooth disease; childhood peripheral neuropathies; dysmyelinating neuropathy; hereditary neuropathy; inflammatory neuropathy; nerve biopsy