Abstract
We present the clinical manifestations, brain magnetic resonance images (MRI), and
genetic analysis of a family with 2 siblings with congenital myotonic dystrophy type
1 (DM1) and 4 patients with classic DM1. These 2 patients with congenital DM1 had
severe mental retardation and a characteristic feature of hyperintensity of white
matter at the posterior-superior trigone (HWMPST), in addition to ventricular dilatation
in T2-weighted images (T2WI) of brain MRI. In 2 of the 4 classic DM1 patients, brain
T2WI MRI showed hyperintensity lesions in the bilateral frontal and/or temporal regions,
which were absent in congenital DM1. In conclusion, we suggest that the HWMPST in
brain MRI is a characteristic finding in congenital DM1, and that the severe cognitive
impairments are not only attributable to the subcortical white matter lesions. In
congenital DM1, the cognitive function is a diffuse impairment, which is different
from that in classic DM1.
Keywords
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Article info
Publication history
Accepted:
September 10,
2004
Received in revised form:
July 7,
2004
Received:
April 30,
2004
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
