title: Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy.
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.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital and University, 199 Tung-Hwa North Road, Taipei, Taiwan.
authors.forename: Hung-Chou
authors.initials: HC
authors.lastname: Kuo
authors.forename: Kuang-Ming
authors.initials: KM
authors.lastname: Hsiao
authors.forename: Chi-Jen
authors.initials: CJ
authors.lastname: Chen
authors.forename: Yu-Chen
authors.initials: YC
authors.lastname: Hsieh
authors.forename: Chin-Chang
authors.initials: CC
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D009483:Neuropsychological Tests; D010375:Pedigree; D011859:Radiography; D018911:Trinucleotide Repeats