Indication for pediatric muscle biopsy determines usefulness

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J Pediatr Surg. 2008 Dec;43(12):2199-201.

Indication for pediatric muscle biopsy determines usefulness.

Jamshidi R, on MR, Lee H, Nobuhara KK, Farmer DL.

Department of Surgery, University of California, San Francisco, CA

94143-0570, USA.

PURPOSE: Diagnostic skeletal muscle biopsy is an invasive procedure

used for evaluation of neuromuscular disorders. We hypothesize that

the yield of biopsy varies with its indication or suspected

diagnosis.

METHODS: Retrospective review of all muscle biopsies was performed at

an academic tertiary care center between January 1, 1996, and August

1, 2006.

RESULTS: A total of 142 muscle biopsies were performed on 127

children. Mean age at biopsy was 5.3 years (median, 3.3; range, 8

days-21 years) with 48% female. Follow-up was maintained for a mean

3.4 years (median, 2.2; range, 1 month-10.4 years). Specific

pathological diagnoses were obtained from 33 (23%) of 142. Changes in

therapy resulted from 11 (8%) of 142 biopsies. Treatment changed for

all patients with prebiopsy suspicion of inflammatory or neoplastic

processes (7/7, 100%); these accounted for 7 (64%) of 11 patients

with treatment changes. Thirteen patients underwent multiple

biopsies, with 1 (8%) patient's treatment adjusted as a result.

Fifteen neonates (<100 days) underwent a total of 17 biopsies; none

changed treatment plans.

CONCLUSIONS: Muscle biopsy for neuromuscular disorders is

inconsistently useful. Specific diagnoses are occasionally revealed,

but treatment changes are infrequent except in those patients with

suspected neoplastic or inflammatory disease. Ongoing study is

required to determine the most rational indications for this

procedure.