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Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series

Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series BACKGROUND AND PURPOSE: CLD is a rapidly progressive and invariably fatal neurodegenerative disorder. We describe clinical and neuroimaging findings in 5 infants with CLD. MATERIALS AND METHODS: Retrospective review of medical records of infants with CLD from the past 11 years at our institution was performed. Relevant clinical and demographic data were recorded. Specific attention was directed toward postmortem examination findings and genetic testing. CT and MR imaging results were reviewed. RESULTS: Five Cree infants were diagnosed with CLD. CT demonstrated bilateral symmetric hypoattenuation of the white matter and globus pallidus. MR imaging demonstrated corresponding T2 hyperintensity in these regions and abnormal signal intensity in the thalami and substantia nigra. Symmetric restricted diffusion in the deep white matter was seen. MRS demonstrated decreased NAA, elevated choline, and the presence of lactate. Postmortem examination in 1 infant showed corresponding poor myelination in the brain stem, cerebellum, deep gray structures, and the cerebral hemispheres. Genetic testing in 2 infants revealed homozygous mutations in the eIF2B5 gene. CONCLUSIONS: Neuroimaging in CLD is striking and is an important tool in diagnosing CLD. Extensive white matter involvement as well as involvement of the globus pallidus and patchy involvement of the thalami and substantia nigra are characteristic. MRS findings are compatible with destruction of normal brain parenchyma with evidence of anaerobic metabolism in the regions of demyelination. Clinical suspicion of VWM in a Native American infant from this region should prompt the consideration of CLD with appropriate imaging work-up and genetic testing. Abbreviations ADC apparent diffusion coefficient CACH childhood ataxia with central hypomyelination syndrome Cho choline CLD Cree leukodystrophy Cr creatine DNA deoxyribonucleic acid DWI diffusion-weighted imaging eIF2 eukaryotic translation initiation factor eIF2B eukaryotic initiation factor 2B eIF2B5 eukaryotic initiation factor 2B subunit 5 FLAIR fluid-attenuated inversion recovery IV intravenous Lac lactate MRI MR imaging MRS MR spectroscopy NAA N -acetylaspartate PRESS point-resolved spectroscopic sequence RNA ribonucleic acid VWM vanishing white matter disease http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Clinical and Neuroimaging Findings of Cree Leukodystrophy: A Retrospective Case Series

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Publisher
American Journal of Neuroradiology
Copyright
Copyright © 2010 by the American Society of Neuroradiology.
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A2108
pmid
20430848
Publisher site
See Article on Publisher Site

Abstract

BACKGROUND AND PURPOSE: CLD is a rapidly progressive and invariably fatal neurodegenerative disorder. We describe clinical and neuroimaging findings in 5 infants with CLD. MATERIALS AND METHODS: Retrospective review of medical records of infants with CLD from the past 11 years at our institution was performed. Relevant clinical and demographic data were recorded. Specific attention was directed toward postmortem examination findings and genetic testing. CT and MR imaging results were reviewed. RESULTS: Five Cree infants were diagnosed with CLD. CT demonstrated bilateral symmetric hypoattenuation of the white matter and globus pallidus. MR imaging demonstrated corresponding T2 hyperintensity in these regions and abnormal signal intensity in the thalami and substantia nigra. Symmetric restricted diffusion in the deep white matter was seen. MRS demonstrated decreased NAA, elevated choline, and the presence of lactate. Postmortem examination in 1 infant showed corresponding poor myelination in the brain stem, cerebellum, deep gray structures, and the cerebral hemispheres. Genetic testing in 2 infants revealed homozygous mutations in the eIF2B5 gene. CONCLUSIONS: Neuroimaging in CLD is striking and is an important tool in diagnosing CLD. Extensive white matter involvement as well as involvement of the globus pallidus and patchy involvement of the thalami and substantia nigra are characteristic. MRS findings are compatible with destruction of normal brain parenchyma with evidence of anaerobic metabolism in the regions of demyelination. Clinical suspicion of VWM in a Native American infant from this region should prompt the consideration of CLD with appropriate imaging work-up and genetic testing. Abbreviations ADC apparent diffusion coefficient CACH childhood ataxia with central hypomyelination syndrome Cho choline CLD Cree leukodystrophy Cr creatine DNA deoxyribonucleic acid DWI diffusion-weighted imaging eIF2 eukaryotic translation initiation factor eIF2B eukaryotic initiation factor 2B eIF2B5 eukaryotic initiation factor 2B subunit 5 FLAIR fluid-attenuated inversion recovery IV intravenous Lac lactate MRI MR imaging MRS MR spectroscopy NAA N -acetylaspartate PRESS point-resolved spectroscopic sequence RNA ribonucleic acid VWM vanishing white matter disease

Journal

American Journal of NeuroradiologyAmerican Journal of Neuroradiology

Published: Sep 1, 2010

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