Brain white matter abnormalities associated with copy number variants
- 17 October 2019
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 182 (1), 93-103
- https://doi.org/10.1002/ajmg.a.61389
Abstract
White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic resonance imaging (MRI). The pattern of WM abnormalities can aid in the diagnostic process. This study aims to characterize the WM changes found in microdeletion/microduplication syndromes. Thirteen patients with neurodevelopmental disorders due to copy number variations were collected from a cohort of children with evidence of WM abnormalities on brain MRI, in two medical centers. A pediatric neuroradiologist blindly interpreted the MRI scans. Clinical and genetic findings were retrospectively extracted from the medical records. WM changes included: multifocal (10/13) periventricular (12/13) and subcortical (5/13) signal abnormalities and WM volume loss (6/13). Dysgenesis of the corpus callosum was depicted in 12/13. The main clinical features were: global developmental delay (13/13), hypotonia (11/13), epilepsy (10/13), dysmorphic features (9/13), microcephaly (6/13), short stature (6/13), and systemic involvement (6/13). We showed that different chromosomal micro‐rearrangement syndromes share similar MRI patterns of nonspecific multifocal predominantly periventricular WM changes associated with corpus callosum dysgenesis with or without WM and gray matter loss. Hence, the association of these features in a patient evaluated for global developmental delay/intellectual disability suggests a chromosomal micro‐rearrangement syndrome, and a chromosomal microarray analysis should be performed.Keywords
This publication has 42 references indexed in Scilit:
- Rearrangement of Chromosome 14q with Associated White Matter DiseasePediatric Neurology, 2011
- Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literatureAmerican Journal of Medical Genetics Part A, 2009
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeJournal of Medical Genetics, 2009
- Invited Article: An MRI-based approach to the diagnosis of white matter disordersNeurology, 2009
- Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental RetardationPEDIATRICS, 2008
- White matter alterations associated with chromosomal disordersDevelopmental Medicine and Child Neurology, 2007
- Deletion of chromosome 1p36 is associated with periventricular nodular heterotopiaAmerican Journal of Medical Genetics Part A, 2006
- 18q deletions: Clinical, molecular, and brain MRI findings of 14 individualsAmerican Journal of Medical Genetics Part A, 2006
- White matter alterations associated with chromosomal disordersDevelopmental Medicine and Child Neurology, 2004
- 18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted imagesJournal of Magnetic Resonance Imaging, 2003