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Longitudinal In Vivo Imaging of the Cerebrovasculature: Relevance to CNS Diseases
Published on: December 6, 2016
Blood vessel ultrastructural picture in a CADASIL patient diagnosed at an advanced age
Eliza Lewandowska1, Paulina Felczak, Julia Buczek
1Eliza Lewandowska, Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego St., 02-957 Warsaw, Poland, phone/fax: +48 22 458 25 24,
Insights
This study details a rare case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in an elderly patient. Findings reveal atypical vascular pathology and granular osmiophilic material (GOM) morphology, potentially influenced by advanced age.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic condition affecting blood vessels in the brain.
- Early diagnosis and understanding of CADASIL pathology are crucial for patient management.
Observation:
- A case study of an 84-year-old male diagnosed with CADASIL via genetic and ultrastructural analysis.
- The patient presented with minimal disease symptoms despite significant vascular abnormalities.
- Ultrastructural examination revealed typical vascular pathology but atypical granular osmiophilic material (GOM) morphology in capillaries and arterioles.
Findings:
- Abnormal capillary walls lacked typical GOM, while arterioles showed sparse, structurally varied GOM deposits.
- Severe arteriolar damage included smooth muscle cell loss and basement membrane alterations with elastin and collagen.
- Unusual fingerprint-like lysosomal inclusions were observed in vascular smooth muscle cells, atypical for CADASIL.
Implications:
- Advanced age at onset may influence the presentation and morphological characteristics of CADASIL.
- This case highlights the variability in CADASIL pathology and GOM presentation.
- Further research is needed to understand the interplay between aging and CADASIL disease progression.
Abstract:
We report the case of an 84-year-old male patient afflicted by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) showing minimal symptoms of disease. The patient was diagnosed on the basis of ultrastructural and genetic examinations. Ultrastructurally, a typical vascular pathology was found. However, in abnormal capillary vessel walls no granular osmiophilic material (GOM) was found. In the arteriole there were only a few GOM deposits that revealed various structures, of which only some resembled typical round GOM. The arteriolar walls showed severe damage, including fragmentation, degeneration and loss of vascular smooth muscle cells (VSMCs) with numerous deposits of elastin, mucosubstances, different granular debris, as well as collagen fibres in the basement membrane. Lysosomal inclusions with fingerprint morphology, atypical for CADASIL, were located in some of the VSMCs. Very old age at the onset of the disease may suggest that morphological changes in blood vessels, described in this report, may be due to both the disease and the patient's age. To our best knowledge it is the first description of pathology of blood vessels and GOM morphology in a CADASIL patient diagnosed at an advanced age.
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