Rectal biopsy in the diagnosis of neurological disease in childhood

Abstract

A surgical technique for taking a full thickness rectal biopsy for neurological diagnosis is described. The indications for, and results of 93 biopsies are reviewed. A definite neurological diagnosis was made in 38 (41 per cent). The usefulness of rectal biopsy is now largely confined to Batten's disease, which was found in 32 (34 per cent of the total). Alternatives and objections to rectal biopsy for neurological diagnosis are discussed. It is concluded that rectal biopsy is a safe and reliable procedure.