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

Hung Chou Kuo; Kuang Ming Hsiao; Chi Jen Chen; Yu Chen Hsieh; Chin Chang Huang

doi:10.1016/j.braindev.2004.09.002

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

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

Research output: Contribution to journal › Article › peer-review

34 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 language	English
Pages (from-to)	291-296
Number of pages	6
Journal	Brain and Development
Volume	27
Issue number	4
DOIs	https://doi.org/10.1016/j.braindev.2004.09.002
Publication status	Published - Jun 2005
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Clinical Neurology
Developmental Neuroscience
Pediatrics, Perinatology, and Child Health

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10.1016/j.braindev.2004.09.002

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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.",

keywords = "Brain magnetic resonance images, Congenital DM1, Developmental abnormality, Mental retardation, Myotonic dystrophy type 1",

author = "Kuo, {Hung Chou} and Hsiao, {Kuang Ming} and Chen, {Chi Jen} and Hsieh, {Yu Chen} and Huang, {Chin Chang}",

year = "2005",

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AU - Kuo, Hung Chou

AU - Hsiao, Kuang Ming

AU - Chen, Chi Jen

AU - Hsieh, Yu Chen

AU - Huang, Chin Chang

PY - 2005/6

Y1 - 2005/6

N2 - 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.

AB - 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.

KW - Brain magnetic resonance images

KW - Congenital DM1

KW - Developmental abnormality

KW - Mental retardation

KW - Myotonic dystrophy type 1

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

Abstract

Keywords

ASJC Scopus subject areas

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