Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy.
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.
Kuo
Hung-Chou
HC
Department of Neurology, Chang Gung Memorial Hospital and University, 199 Tung-Hwa North Road, Taipei, Taiwan.
Hsiao
Kuang-Ming
KM
Chen
Chi-Jen
CJ
Hsieh
Yu-Chen
YC
Huang
Chin-Chang
CC
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