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Improved Turnaround Times | Median time to first decision: 12 days

Research ArticlePediatrics

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels and N.I. Wolf
American Journal of Neuroradiology May 2019, 40 (5) 903-907; DOI: https://doi.org/10.3174/ajnr.A6051
I. Harting
aFrom the Department of Neuroradiology (I.H., A.S.)
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S. Karch
bCentre for Child and Adolescent Medicine (S.K.), Clinic I, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany
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U. Moog
cInstitute of Human Genetics (U.M.), Heidelberg University, Heidelberg, Germany
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A. Seitz
aFrom the Department of Neuroradiology (I.H., A.S.)
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P.J.W. Pouwels
dDepartments of Radiology and Nuclear Medicine (P.J.W.P.)
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N.I. Wolf
eChild Neurology (N.I.W.), VU University Medical Center and Amsterdam Neuroscience, Amsterdam, the Netherlands.
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    Fig 1.

    MR imaging pattern of ODDD. Mild, diffuse T2 hyperintensity of the supratentorial white matter (B–D) and normal T1 signal (E) characteristic of hypomyelination in patient 1 with involvement of the posterior limb of the internal capsule (B), lateral splenium (C), and typical brain stem tract involvement at the level of the pons (A). Note T2 hypointensity of the Rolandic cortex compared with subcortical NAWM (arrows) of the medial and superior frontal gyri (B–D) and of the primary visual cortex compared with the anterior limb of the internal capsule, genu, and subcortical frontal NAWM (B and C). The craniocervical junction is normal (F). For an overview of MR imaging changes of all patients see On-line Fig 1.

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    Fig 2.

    Pattern of brain stem tract involvement. T2WI at the level of the pons demonstrates characteristic involvement of the pyramidal tract (1), lemniscus medialis (2, black arrow), raphe pontis (3, black arrow), middle cerebellar peduncle (4), and the triangular lateral pontine T2 hyperintensity consistent with the anterior course of the pontocerebellar fibers forming the middle cerebellar peduncle (5); schematic representation of tracts is given in inset in A 2, 3 in black. A, Patient 1, B, patient 2, C, patient 3, D, patient 4, E, patient 5, F, patient 6. Field strength is 3T in patient 3; otherwise, it is 1.5T. Images are from the last scan from patients with multiple scans.

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American Journal of Neuroradiology: 40 (5)
American Journal of Neuroradiology
Vol. 40, Issue 5
1 May 2019
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I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, N.I. Wolf
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
American Journal of Neuroradiology May 2019, 40 (5) 903-907; DOI: 10.3174/ajnr.A6051

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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, N.I. Wolf
American Journal of Neuroradiology May 2019, 40 (5) 903-907; DOI: 10.3174/ajnr.A6051
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  • Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults
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