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Research ArticlePEDIATRICS

New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

A. Hirasawa-Inoue, N. Sato, Y. Shigemoto, Y. Kimura, A. Ishiyama, E. Takeshita, M. Mori-Yoshimura, Y. Oya, Y. Takahashi, H. Komaki, H. Matsuda and M. Sasaki
American Journal of Neuroradiology May 2020, DOI: https://doi.org/10.3174/ajnr.A6577
A. Hirasawa-Inoue
aFrom the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.)
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N. Sato
bRadiology (N.S., Y.S., Y.K.)
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Y. Shigemoto
bRadiology (N.S., Y.S., Y.K.)
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Y. Kimura
bRadiology (N.S., Y.S., Y.K.)
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A. Ishiyama
aFrom the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.)
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E. Takeshita
aFrom the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.)
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M. Mori-Yoshimura
cNeurology (M.M.-Y., Y.O., Y.T.)
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  • ORCID record for M. Mori-Yoshimura
Y. Oya
cNeurology (M.M.-Y., Y.O., Y.T.)
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Y. Takahashi
cNeurology (M.M.-Y., Y.O., Y.T.)
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  • ORCID record for Y. Takahashi
H. Komaki
aFrom the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.)
dNational Center Hospital, Translational Medical Center (H.K.)
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H. Matsuda
eIntegrative Brain Imaging Center (H.M.), National Center of Neurology and Psychiatry, Tokyo, Japan.
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M. Sasaki
aFrom the Departments of Child Neurology (A.H.-I., A.I., E.T., H.K., M.S.)
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Abstract

BACKGROUND AND PURPOSE: Leptomeningeal glioneuronal heterotopia of the brain stem and cerebral migration abnormality were pathologically reported in Fukuyama congenital muscular dystrophy, but the radiologic assessments of the brain stem and cerebral venous system (which may be involved in the development of the anomaly) were insufficient. Here, we evaluated the brain stem and cerebral veins on MR imaging in patients with Fukuyama congenital muscular dystrophy.

MATERIALS AND METHODS: We retrospectively reviewed the MR imaging findings of 27 patients with Fukuyama congenital muscular dystrophy. We visually assessed the hypoplasia, superficial structures, and signal intensity of the brain stem on T2WI, FLAIR, and double inversion recovery images and the cerebral, superficial, and deep veins with and without hemorrhage on T2WI and SWI.

RESULTS: Brain stem fluffy structures were seen in 96.3% of the cases on T2WI. Superficial high signal intensity on T2WI and FLAIR images was seen in 96.3% and 92.6%, respectively. Abnormally located superficial vessels beneath the cortex were seen in 11.1% on T2WI. Hypoplasia of the superficial cerebral veins was noted in all patients who underwent SWI. Dilated and tortuous subependymal veins were seen in 40.0% on SWI. Hemorrhages were seen in 11.1% on T2WI and in 60.0% on SWI.

CONCLUSIONS: Superficial brain stem structural and signal abnormalities would be useful MR imaging findings to diagnose Fukuyama congenital muscular dystrophy as well as venous system abnormalities. Clinicians must keep in mind that this disease has a high risk of hemorrhage.

ABBREVIATIONS:

DIR
double inversion recovery
FCMD
Fukuyama congenital muscular dystrophy
  • © 2020 by American Journal of Neuroradiology
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New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies
A. Hirasawa-Inoue, N. Sato, Y. Shigemoto, Y. Kimura, A. Ishiyama, E. Takeshita, M. Mori-Yoshimura, Y. Oya, Y. Takahashi, H. Komaki, H. Matsuda, M. Sasaki
American Journal of Neuroradiology May 2020, DOI: 10.3174/ajnr.A6577

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New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies
A. Hirasawa-Inoue, N. Sato, Y. Shigemoto, Y. Kimura, A. Ishiyama, E. Takeshita, M. Mori-Yoshimura, Y. Oya, Y. Takahashi, H. Komaki, H. Matsuda, M. Sasaki
American Journal of Neuroradiology May 2020, DOI: 10.3174/ajnr.A6577
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