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Neuropediatrics 1992; 23(4): 218-220
DOI: 10.1055/s-2008-1071346
DOI: 10.1055/s-2008-1071346
Case report
© Georg Thieme Verlag KG Stuttgart · New York
A Study of Evoked Potentials in the 18q-Syndrome which Includes the Absence of the Gene Locus for Myelin Basic Protein
Further Information
Publication History
Publication Date:
19 March 2008 (online)
Abstract
We report evoked potential findings in a patient with 18q-syndrome (18q22.3→qter). The deletion included the locus for myelin basic protein (MBP). Clinical manifestations were mild intellectual deficit, involuntary movements and ataxia. MRI of the brain showed diffusely abnormal white matter. Visual evoked responses were normal. Central conduction was prolonged on median somatosensory evoked potentials and no central response was seen with posterior tibial somatosensory potentials. Putative congenital deficiency of MBP does not necessarily cause abnormal visual evoked responses.
Key words
Evoked potentials - Myelin basic protein - 18q-syndrome