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Updated: Jul 19, 2026
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
Extensive mixed vascular malformation clinically imitating multiple sclerosis--case report
J Rafalowska1, D Dziewulska, A Podlecka
1Department of Experimental and Clinical Neuropathology, Medical Research Centre, Polish Academy of Sciences, Pawinskiego str. 5, 02-106 Warsaw, Poland. ddziewul@amwaw.edu.pl
Abstract:
Vascular malformations usually develop as a result of influence of teratogenic factor(s) acting in the defined embryonic/fetal period. However, in the case examined by us, various types of vascular malformations formed in different periods of the ontogenic development were found. They were seen in all parts of the central nervous system and clinically mimicked multiple sclerosis. On the background of generalized ischemic lesions of the CNS, certain kinds of vascular malformations were seen: cavernous or fetallike vessels within meninges, superficially located capillary angioma penetrating into the brain and spinal cord white matter, and arterio-venous pathological conglomerates forming meningeal angiomatosis. In pathological vessels, immunocytochemical assessment of vascular endothelium with antibodies against antigens CD31, CD34, von Willebrand factor and lectin Ulex europaeus was normal but examination of the vascular basal membrane compounds revealed poor immunoreactivity to laminin and fibronectin. There were no disturbances in expression of angiopoietin, platelet-derived growth factor, transforming growth factor beta and vascular endothelial growth factor receptors Tie-1/2, PDGFR-alpha/beta, endoglin and Flk-1, respectively. The presence of various types of pathological vessels originating from different ontogenic periods indicates remittent or prolonged influence of teratogenic factor(s) in all periods of fetal vessel development.
Insights
This study found diverse vascular malformations in the central nervous system, mimicking multiple sclerosis. These likely resulted from prolonged or intermittent teratogenic factor exposure during fetal development.
Area of Science:
- Neurology
- Developmental Biology
- Pathology
Background:
- Vascular malformations typically arise from specific teratogenic exposures during embryonic/fetal development.
- Understanding the origins of complex vascular malformations is crucial for diagnosis and treatment.
Observation:
- A unique case presented with multiple types of vascular malformations across the central nervous system.
- These malformations mimicked clinical symptoms of multiple sclerosis.
- Histological examination revealed cavernous, capillary, and arteriovenous malformations within the meninges and brain/spinal cord white matter.
Findings:
- Immunocytochemical analysis of endothelial markers (CD31, CD34, von Willebrand factor, Ulex europaeus lectin) was normal.
- Reduced immunoreactivity to laminin and fibronectin was observed in the vascular basal membrane.
- Expression of key growth factors and their receptors (angiopoietin, PDGF, TGF-beta, VEGF receptors) remained undisturbed.
Implications:
- The diverse malformations suggest a persistent or recurring teratogenic influence throughout fetal development.
- This case highlights the importance of considering vascular etiologies in neurological conditions that mimic demyelinating diseases.
- Further research into the molecular mechanisms underlying aberrant vascular development is warranted.
