Detection of Early Abnormalities in the Mucopolysaccharidoses by the Use of Visual and Brainstem Auditory Evoked Potentials

Abstract

Flash visual evoked potentials (FVEPs) and brainstem auditory evoked potentials (BAEPs) were performed in 13 children (aged 3-17 years) affected by mucopolysaccharidoses (MPSs). FVEPs and BAEPs were abnormal in 6 and 9 patients, respectively. The presence of these abnormalities in most neurologically normal patients suggests that electrophysiological techniques provide a useful tool for detecting early abnormalities.

Evoked potentails and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience

“…The detection of neurologic involvement in GD is therefore crucial to determine the prognosis of patients and to establish the appropriate therapeutic regimen (Capablo et al 2008). Evoked potentials have been considered a sensitive and noninvasive approach to detect subclinical neurologic involvement in other lysosomal diseases (Perretti et al 1990). The aim of the present study was to evaluate the extent of brain stem disease in pediatric GD patients under ERT.…”

Study of Multimodal Evoked Potentials in Patients With Type 1 Gaucher's Disease

“…In view of the therapeutic possibilities, evoked potential investigation can be advantageous for early detection and monitoring of subclinical neurologic dysfunction. 11,12,18 Transcranial magnetic stimulation of the motor cortex, which explores the pyramidal pathways, 19 was particularly sensitive in our patients because it showed an altered central motor excitability (increased motor threshold) in about 70% of the patients examined. In addition, two patients showed a prolonged central motor conduction time, indicating a slowed conduction along the central motor pathway.…”

“…Besides a careful clinical evaluation, approaches such as the study of saccadic movements have been used to detect signs of neurologic disease. 10 Evoked potentials have been considered a sensitive and noninvasive approach to detect subclinical neurologic involvement in other lysosomal diseases, such as mucopolysaccharidoses 11 or mucolipidoses, 12 and in a few studies in Gaucher's disease. 8,[13][14][15][16][17][18] These studies have generally been performed in single patients and have evaluated only one evoked potential modality.…”