Download PDF
Neuropediatrics 1982; 13(1): 42-47
DOI: 10.1055/s-2008-1059594
CASE REPORTS

© Georg Thieme Verlag KG Stuttgart · New York

The Diagnostic Value of Sural Nerve Biopsy in Metachromatic Leucodystrophy and Other Conditions with Low Leucocyte Arylsulphatase A Activities

A. J. M. Vos , E. M. G. Joosten , A. A. W. M. Gabreëls-Festen , F. J. M. Gabreëls , S. L. H. Notermans , K. J. B. Lamer
  • Institute of Neurology and Department of Submicroscopic Morphology, Radboud University Hospital, Nijmegen, The Netherland
Further Information

Publication History

Publication Date:
08 May 2008 (online)

  PDF Download  Permissions and Reprints

Abstract

The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because one of the parents also had low ASA-activity or because the obligatory information about the ASA-activity of the parents could not be obtained. In these cases sural nerve biopsy provided essential diagnostic information, correcting one false negative and two false positive diagnoses of clinical MLD.

Key words

Metachromatic leucodystrophy - Arylsulphatase A - Sural nerve biopsy

      >