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 journalArticlepeer-review

32 Citations (Scopus)


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
Issue number4
Publication statusPublished - Jun 2005
Externally publishedYes


  • 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


Dive into the research topics of 'Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy'. Together they form a unique fingerprint.

Cite this