Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy

Hung Chou Kuo, Kuang Ming Hsiao, Chi J. Chen, Yu Chen Hsieh, Chin Chang Huang

Research output: Contribution to journalArticle

26 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)291-296
Number of pages6
JournalBrain and Development
Volume27
Issue number4
DOIs
Publication statusPublished - Jun 2005
Externally publishedYes

Fingerprint

Myotonic Dystrophy
Magnetic Resonance Spectroscopy
Brain
Temporal Lobe
Intellectual Disability
Cognition
Siblings
Dilatation
White Matter

Keywords

  • Brain magnetic resonance images
  • Congenital DM1
  • Developmental abnormality
  • Mental retardation
  • Myotonic dystrophy type 1

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy. / Kuo, Hung Chou; Hsiao, Kuang Ming; Chen, Chi J.; Hsieh, Yu Chen; Huang, Chin Chang.

In: Brain and Development, Vol. 27, No. 4, 06.2005, p. 291-296.

Research output: Contribution to journalArticle

Kuo, Hung Chou ; Hsiao, Kuang Ming ; Chen, Chi J. ; Hsieh, Yu Chen ; Huang, Chin Chang. / Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy. In: Brain and Development. 2005 ; Vol. 27, No. 4. pp. 291-296.
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