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|Year : 2019 | Volume
| Issue : 4 | Page : 1145-1146
Sporadic CADASIL: A Rare Occurrence
Amandeep Singh1, Sudhir Mehta1, Laxmi Kant Goyal1, Gunja Jain1, Dilip Ramrakhiani2
1 Department of Medicine, SMS Medical College, Jaipur, Rajasthan, India
2 Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India
|Date of Web Publication||10-Sep-2019|
Dr. Sudhir Mehta
Department of Medicine, SMS Medical College, Jaipur, Rajasthan
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Singh A, Mehta S, Goyal LK, Jain G, Ramrakhiani D. Sporadic CADASIL: A Rare Occurrence. Neurol India 2019;67:1145-6
Cerebral Autosomal Dominant Arteriopathy Subcortical Infarcts Leucoencephalopathy (CADASIL) is a rare inherited disorder of cerebral small vessels. CADASIL occurs in two forms –familial and sporadic. Only few cases of familial CADASIL are reported from India. To our knowledge, this is the first case of sporadic CADASIL from India.
A 55-year-old, right-handed, nonsmoking, nonalcoholic male was admitted to the Department of Medicine with generalized tonic–clonic seizures and altered sensorium for 4 days with headache 2 hours before seizure onset. He also had severe intermittent headaches for 1 month without a history of seizures PLURAL. There was history of change in behavior (irrelevant talking) and on and off memory loss for 1 month. The family had no history of seizure or behavior alteration. On examination, vital parameters were within normal limits. Neurological examination revealed a Glas Coma Scale of 10 (E2M3V2), hypertonia, exaggerated deep tendon reflexes in all four limbs, and bilateral extensor plantar. Signs of meningeal irritation were absent and other systemic examinations were normal.
Investigations including a complete blood count, liver function test, renal function test, serum electrolytes, blood sugar, serum lipids, chest-skiagram, and electrocardiogram were normal. Magnetic resonance imaging (MRI) of the brain revealed confluent hyperintensities in brain stem, bilateral cerebellar hemispheres, bilateral thalami, basal ganglia, subcortical white matter, and external capsule on T2 images [Figure 1]. On full thickness skin biopsy, thickening of the vessel wall with eosinophilic material that stained positive for periodic acid Schiff (PAS) was noted [Figure 2].
|Figure 1: MRI brain T2 I showing extensive focal and confluent hyperintensities in white matter of brain stem, cerebellar hemispheres, bilateral thalami, basal ganglia, external capsule, deep and cortical white matter and corpus callosum|
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|Figure 2: Skin biopsy showing thickening of vessel wall with eosinophilic material that stained positive for Periodic Acid Schiff|
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In view of MRI and skin biopsy findings along with seizure, the patient was diagnosed with CADASIL. NOTCH 3 gene mutation could not be assessed because of financial constraints. As family history for any similar illness was negative, we presumed this to be a sporadic case. In view of critical illness, the patient was shifted to the intensive care unit (ICU) where he subsequently succumbed owing to ventilator-associated pneumonia and sepsis.
CADASIL is a hereditary vasculopathy affecting small-sized (100–400 μm) arteries and arterioles of brain and other tissues. In the brain, leptomeningeal as well as perforating arteries are involved. In the involved arteries, tunica media are thickened by PAS-positive eosinophilic deposits which are neither atherosclerosis nor amyloid. Symmetrical diffuse hyperintensities within the white matter on T2 images and hypointensities on T1 images suggestive of infarcts are seen on MRI brain. On MRI, involvement of white matter in anterior temporal lobe had 89% sensitivity and 86% specificity where as external capsule was highly sensitive (93%) but not specific. Full thickness skin biopsy showing thickening of vessel wall with eosinophilic material that stain positive for PAS is 100% specific for CADASIL. Cerebral angiography remains normal. Emotional labiality (pathological crying or laughing) is frequent and often transient.
Our patient had seizure and dementia with upper motor neuron signs in all four limbs. MRI brain revealed confluent hyperintensities in brain stem, bilateral cerebellar hemispheres, bilateral thalami, basal ganglia, subcortical white matter, and external capsule on T2 images.
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 name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]