4H Leukodystrophy: Lessons from 3T Imaging

Ferdy K. Cayami; Marianna Bugiani; Petra J.W. Pouwels; Geneviève Bernard; Marjo S. van der Knaap; Nicole I. Wolf

doi:10.1055/s-0037-1608780

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics 2018; 49(02): 112-117
DOI: 10.1055/s-0037-1608780

Original Article

Georg Thieme Verlag KG Stuttgart · New York

4H Leukodystrophy: Lessons from 3T Imaging

Ferdy K. Cayami

¹Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

²Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

³Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Indonesia

,

Marianna Bugiani

²Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

⁴Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands

⁵Amsterdam Neuroscience, Amsterdam, The Netherlands

,

Petra J.W. Pouwels

⁵Amsterdam Neuroscience, Amsterdam, The Netherlands

⁶Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands

,

Geneviève Bernard

⁷Department of Neurology and Neurosurgery, McGill University, Montreal, Canada

⁸Department of Pediatrics, McGill University, Montreal, Canada

⁹Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada

¹⁰Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada

,

Marjo S. van der Knaap

²Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

⁵Amsterdam Neuroscience, Amsterdam, The Netherlands

¹¹Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University and VU Medical Center, Amsterdam, The Netherlands

,

Nicole I. Wolf

²Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands

⁵Amsterdam Neuroscience, Amsterdam, The Netherlands

› Institutsangaben

Abstract

4H leukodystrophy is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. With its variability in clinical symptoms, application of pattern recognition to identify specific magnetic resonance imaging (MRI) features proved useful for the diagnosis. We collected 3T MR imaging data of 12 patients with mutations in POLR3A (n = 8), POLR3B (n = 3), and POLR1C (n = 1), all obtained at the same scanner. We assessed these images and compared them with previously obtained 1.5T images in 8 patients. Novel MRI findings were myelin islets, closed eye sign, and a cyst-like lesion in the splenium. Myelin islets were variable numbers of small T1 hyperintense and T2 hypointense dots, mostly in the frontal and parietal white matter, and present in all patients. This interpretation was supported with perivascular staining of myelin protein in the hypomyelinated white matter of a deceased 4H patient. All patients had better myelination of the medial lemniscus with a relatively hypointense signal of this structure on axial T2-weighted (T2W) images (“closed eye sign”). Five patients had a small cyst-like lesion in the splenium. In 10 patients with sagittal T2W images, we also found spinal cord hypomyelination. In conclusion, imaging at 3T identified additional features in 4H leukodystrophy, aiding the MRI diagnosis of this entity.

Keywords

4H leukodystrophy - MRI - 3T

Volltext

Referenzen

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