|LETTER TO EDITOR
|Year : 2023 | Volume
| Issue : 1 | Page : 56-58
Unusual vessel wall magnetic resonance imaging findings in a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patient
Huseyin Nezih Ozdemir1, Hanife Karakaya2, Figen Gökçay3
1 Department of Neurology, Necip Fazil City Hospital, Kahramanmaras, Turkey
2 Department of Neurology, Gümüshane State Hospital, Gümüshane, Turkey
3 Department of Neurology, Ege University Medical School, Izmir, Turkey
|Date of Submission||16-Sep-2021|
|Date of Decision||21-Feb-2022|
|Date of Acceptance||28-Feb-2022|
|Date of Web Publication||29-Mar-2023|
Huseyin Nezih Ozdemir
Department of Neurology, Necip Fazil City Hospital, Kahramanmaras 46050
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Ozdemir HN, Karakaya H, Gökçay F. Unusual vessel wall magnetic resonance imaging findings in a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patient. Neurol Sci Neurophysiol 2023;40:56-8
|How to cite this URL:|
Ozdemir HN, Karakaya H, Gökçay F. Unusual vessel wall magnetic resonance imaging findings in a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patient. Neurol Sci Neurophysiol [serial online] 2023 [cited 2023 Jun 10];40:56-8. Available from: http://www.nsnjournal.org/text.asp?2023/40/1/56/372784
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease causing early-onset strokes. Typical features of CADASIL include migraine headaches frequently with aura, recurrent ischemic strokes, and cognitive decline. It is traditionally accepted that CADASIL affects small to medium-sized vessels. Contrary to traditional knowledge, our patient showed large artery involvement by vessel wall magnetic resonance imaging (MRI). This relatively new imaging utility may help in the understanding of the different effects of CADASIL on intracranial arteries and the mechanism of disease progression.
A 41-year-old woman was admitted to our department with a complaint of severe headaches. Her headaches were unilateral and pulsatile, lasting between 4 and 6 h. Her complaints had started 3 months previously and occurred about twice a month. Before the headache attacks, she had weakness in her right arm, which lasted 30 min. She was also confused during the aura phase. She did not have any significant features in her past medical history. However, her father had a history of migraines and was bedridden because of recurrent ischemic strokes.
The neurological examination was completely normal. Complete blood count, blood chemistry, and erythrocyte sedimentation rate tests were unremarkable. Blood lipid profile, HbA1c, and complements were within normal limits. Antinuclear antibody, antineutrophil cytoplasmic antibody, and double-stranded DNA tests were also negative. Thrombophilia screening tests and homocysteine were normal.
Weakness and confusion during the aura suggested a secondary headache disorder. Cranial MRI, cranial and cervical magnetic resonance angiogram (MRA), and cranial vessel wall MRI were performed for differential diagnosis. Cranial MRI showed widespread hyperintense lesions on the T2-weighted and apparent diffusion coefficient (ADC) images, which had a tendency to merge in the bilateral anterior temporal area and bilateral external capsule [Figure 1]. Multiplanar reformation (MPR) range post-contrast axial and coronal sequence showed contrast enhancement in the wall of middle cerebral artery M2 segment [Figure 2]a and [Figure 2]b. MPR range postcontrast coronal and axial sequence also showed contrast enhancement in the wall of middle cerebral artery M1 segment [Figure 2]c and [Figure 2]d. MRI was performed by a 1.5T scanner (Siemens Magnetom Sonata, Siemens Medical Solutions, Erlangen, Germany. T1-weighted 3D MPR; TR/TE = 2700 ms/4 ms, voxel size = 1 mm3). The cranial and cervical MRA results were normal.
|Figure 1: Bilateral hyperintense lesions in the anterior temporal lobe and the external capsule on T2-weighted and apparent diffusion coefficient sequences|
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|Figure 2: (a) Contrast enhancement in the wall of middle cerebral artery M2 segment on an axial multiplanar reformation sequence. (b) Contrast enhancement in the wall of middle cerebral artery M2 segment on a coronal multiplanar reformation sequence. (c) Contrast enhancement in the wall of middle cerebral artery M1 segment on a coronal multiplanar reformation sequence. (d) Contrast enhancement in the wall of middle cerebral artery M1 segment on an axial multiplanar reformation sequence|
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Migraine headache with atypical aura, conventional and vessel wall MRI findings, and family history suggested CADASIL. With genetic analysis, the heterozygote 457C>T mutation was detected in the NOTCH3 gene and the patient was diagnosed with CADASIL. With the genetic diagnosis of CADASIL, the vessel wall MRI findings were interpreted as compatible with arteriopathy.
Informed consent was obtained from the participant.
CADASIL is an arteriopathy and it is traditionally believed that CADASIL primarily affects small and medium-sized vessels in the cranium. Contrary to this classic information, in a series of 49 patients, seven patients had ischemic stroke linked to cerebral large artery disease and the authors emphasized that large vessels can be involved in CADASIL. Choi et al. also reported 13 CADASIL patients with large artery strokes.
Vessel wall MRI is a relatively new imaging technique that directly shows the vessel parenchyma. Vessel wall MRI can help in the differential diagnosis of vasculopathies that have similar appearances by traditional vascular imaging tools, such as vasculitis, reversible cerebral vasoconstriction syndrome, and radiation-induced vasculopathy. At present, interpretation of vessel wall contrast enhancement is the keystone for clinical usage of vessel wall MRI. It may show vasculitis or arteriopathy. Goldstein et al. reported a CADASIL patient with patchy contrast enhancement in the larger arteries in vessel wall MRI. They hypothesized that vessel wall MRI may show vasculopathy of the intracranial arteries in CADASIL patients. We interpreted the vessel wall MRI findings as arteriopathy based on the patient's clinical features, the result of the genetic test, and experience from other authors. The limitation of this study is that, due to the facilities of our institute, vessel wall MRI that could not be performed with a higher-resolution MRI device.
In conclusion, although larger cohorts are needed, we agree that vessel wall MRI may show the intracranial vasculopathy in CADASIL patients. Vessel wall MRI may potentially help in the understanding of the different effects of CADASIL on intracranial arteries, the mechanism of disease progression, and differential diagnosis.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.
Thanks to Celal Çınar for helping with choosing MRI sequences.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]