Neurophysiologic assessment of mucopolysaccharidosis III.

Journal Article (Journal Article)

OBJECTIVE: To describe finding of various neurophysiologic tests in patients with mucopolysaccharidosis III (MPS III) early in the disease course. METHODS: Patients were evaluated with flash visual evoked potentials (VEP), brainstem auditory evoked potentials (BAEP), electroencephalography (EEG), and nerve conduction studies (NCS) before they underwent hematopoietic stem cell transplantation (HSCT). RESULTS: Thirteen children underwent at least one neurophysiologic test before HSCT. The mean age at testing was 2.7 years. Ten of 11 (91%) patients had a normal flash VEP, and all 9 who had BAEP had normal central conduction. EEG was normal in 7/13 (54%), with the others showing diffuse slowing. NCS was normal in 10/11 (91%) patients. CONCLUSIONS: Despite extensive central nervous system involvement in MPS III, flash VEP and BAEP are almost always normal. EEG is often abnormal early in the disease. SIGNIFICANCE: This is the first report of neurophysiologic tests in a large series of MPS III patients.

Full Text

Duke Authors

Cited Authors

  • Husain, AM; Escolar, ML; Kurtzberg, J

Published Date

  • September 2006

Published In

Volume / Issue

  • 117 / 9

Start / End Page

  • 2059 - 2063

PubMed ID

  • 16884953

International Standard Serial Number (ISSN)

  • 1388-2457

Digital Object Identifier (DOI)

  • 10.1016/j.clinph.2006.05.031


  • eng

Conference Location

  • Netherlands