| Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. | |
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MedLine Citation:
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PMID: 22232354 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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OBJECTIVE: To describe 4 children with a novel hypomyelinating leukoencephalopathy, defined by a distinct pattern of magnetic resonance imaging (MRI) abnormalities. DESIGN: In our ongoing study on leukoencephalopathies of unknown origin, MRIs of patients are rated in a standardized manner. Patients are grouped according to their MRI abnormalities. The clinical and laboratory data are retrospectively reviewed. Subjects The MRIs of approximately 3000 patients with a leukoencephalopathy of unknown origin were initially evaluated. Four unrelated patients (all male, aged 1.8-7.4 years) displayed similar MRI alterations. RESULTS: Patients displayed mild T2 hyperintensity of the medulla oblongata, caudal part of the pons, hilus of the dentate nucleus, peridentate white matter, subcortical cerebellar white matter, optic radiation, and frontoparietal periventricular white matter. The posterior limb of the internal capsule showed alternating T2 hyperintense-hypointense-hyperintense stripes in 3 patients. The T1-weighted images showed hyperintensity, isointensity, or mild hypointensity of T2 hyperintense structures. The thalamus had a neonatal appearance with a mildly hyperintense signal except for a darker lateral part. Clinically, patients presented with nystagmus between ages 6 and 20 months. Over time, cerebellar ataxia and mild spasticity developed. All achieved unsupported walking. Cognition and language were normal. Known causes of hypomyelination were excluded. CONCLUSIONS: The patients share a striking pattern of MRI abnormalities and have a similar clinical picture, suggesting that they have the same disorder. The hypomyelination in this disorder specifically occurs in structures that normally myelinate early. We hypothesize that the disease is caused by a defect in a gene involved in early myelination. |
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Authors:
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Marjan E Steenweg; Nicole I Wolf; Jolanda H Schieving; Mahmoud Fawzi Elsaid; Richard L Friederich; John R Ostergaard; Frederik Barkhof; Petra J W Pouwels; Marjo S van der Knaap |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Archives of neurology Volume: 69 ISSN: 1538-3687 ISO Abbreviation: Arch. Neurol. Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-01-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 125-8 Citation Subset: AIM; IM |
Affiliation:
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Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands. ms.vanderknaap@vumc.nl. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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