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Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination
- Source :
- Brain and Development. 34:234-237
- Publication Year :
- 2012
- Publisher :
- Elsevier BV, 2012.
-
Abstract
- Background 18q-Syndrome is a chromosomal disorder exhibiting various symptoms arising from the central nervous system. Brain magnetic resonance imaging (MRI) of patients with this syndrome usually demonstrates abnormal white matter intensities. This is widely believed to be due to impaired myelin formation because this syndrome involves the deletion of the myelin basic protein (MBP) gene in 18q23. However, this hypothesis has not been confirmed by actual pathology because early death is unusual and autopsy rarely performed. Patient A 6-year-old boy with ring chromosome 18 syndrome was examined by genetic analysis for the MBP gene, brain MRI, and autopsy. Results Haploinsufficiency of the MBP gene was confirmed. T2-weighted MRI revealed diffuse high intensities throughout the cerebral white matter. Pathological examination showed the cerebral white matter to be uniformly stained by Kluver–Barrera and MBP immunohistochemical staining. Oligodendrocytes were immunoreactive for proteolipid protein and ferritin but not MBP. Electron microscopy revealed clusters of axons wrapped in compact myelin sheaths with distinct major dense lines. Holzer and immunohistochemical staining for glial fibrillary acidic protein showed extensive staining of the white matter and an increased number of glial filaments. Conclusions This pathological study demonstrated that in this disorder, the brain was well myelinated, contrary to established hypotheses about this disorder. The MRI signal abnormalities in 18q-syndrome could be attributed to gliosis and not to dysmyelination.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Proteolipid protein 1
Central nervous system
Chromosome Disorders
White matter
Microscopy, Electron, Transmission
Developmental Neuroscience
Compact myelin
medicine
Humans
Child
Myelin Sheath
Glial fibrillary acidic protein
biology
medicine.diagnostic_test
Brain
Magnetic resonance imaging
General Medicine
Magnetic Resonance Imaging
Myelin basic protein
medicine.anatomical_structure
Gliosis
Pediatrics, Perinatology and Child Health
biology.protein
Neurology (clinical)
Chromosome Deletion
medicine.symptom
Chromosomes, Human, Pair 18
Subjects
Details
- ISSN :
- 03877604
- Volume :
- 34
- Database :
- OpenAIRE
- Journal :
- Brain and Development
- Accession number :
- edsair.doi.dedup.....d4d739e88bd4338e91bec40ffe23258b
- Full Text :
- https://doi.org/10.1016/j.braindev.2011.05.008