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Neurophysiologic assessment of mucopolysaccharidosis III
Aatif M Husain1, Maria L Escolar, Joanne Kurtzberg
1Department of Medicine (Neurology), 202 Bell Building, Box 3678, Duke University Medical Center, Durham, NC 27710, USA. Aatif.husain@duke.edu
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.
