Clinical and neuropathological parameters affecting the diagnostic yield of nerve biopsy

Pediatric Nerve Biopsy Diagnostic and Treatment Utility in Tertiary Care Referral

“…"floppy baby") group was a frequent prebiopsy diagnosis with unaltered electrodiagnostic studies, and had the lowest nerve biopsy diagnostic yield in our study, a finding previously reported by others. 27 The diagnostic yield in our series is somewhat higher than that of other studies, 8,11,12,28,29 which have also reported the highest diagnostic yield in the setting of abnormal results on electrodiagnostic studies. 9,12 Therefore expert nerve conduction techniques among children are essential for the decision to perform a nerve biopsy.…”

“…Earlier studies of nerve biopsy utility predate modern genetic technologies and have been mainly limited to adult patients [8][9][10] or did not specify whether the study population included pediatric patients. 11,12 In addition, such studies were heterogeneous and variably included teased fiber analysis, histochemical and immunochemical staining, and/ or epoxy preparations. One focused pediatric series by Miller et al 13 retrospectively evaluated the diagnostic yield of combined nerve-muscle-skin biopsy in a series of 98 patients, and found a very high rate of informative biopsies (93.5%) among children with abnormal results in electrodiagnostic studies.…”

“…2,14 In adults, when a neuropathy diagnosis remains uncertain after laboratory, electrodiagnostic, and/or genetic testing, nerve biopsy has been established as a valuable diagnostic tool in specific forms. 8,11,[15][16][17][18] Herein, we investigate the usefulness of nerve biopsy in children by review of a large retrospective cohort at our institution. Clinical phenotypes that most likely benefited as determined by change in therapy with clinical improvements, and that had the highest genetic testing diagnostic yield are evaluated.…”

Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies

“…In 21 patients with CIDP, Bosboom and colleagues did not find teased fiber analysis useful to distinguish CIDP from chronic idiopathic axonal neuropathy (Bosboom et al, 2001). In the 102 cases of Deprez et al (2000), there were 4 cases in which fiber teasing provided contributive information altering patient management. If teased fiber analysis is performed, the samples should be prepared according to published procedures .…”

“…Two retrospective studies with 355 and 50 patients (Deprez et al, 2000;Gabriel et al, 2000) suggested that sural nerve biopsy is helpful in diagnosing inflammatory and dysimmune neuropathies, namely in vasculitis and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), also possibly in leprosy and in some forms of hereditary neuropathies. Sural nerve biopsy improved treatment decisions in 60% of patients (Gabriel et al, 2000) and was more often helpful in patients with severe demyelinating, distal asymmetric, and multifocal types of neuropathy than in axonal and symmetric types.…”