CADASIL
Alerts and Notices
Synopsis

Brain MRI characteristically shows subcortical white matter abnormalities. Genetic testing for the NOTCH3 gene can confirm the diagnosis. There is no effective treatment for this condition, and management is mainly symptomatic.
Codes
ICD10CM:I67.850 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
SNOMEDCT:
390936003 – Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
The following conditions can cause symptoms resembling CADASIL:- Migraine with aura
- Early onset Alzheimer disease
- Depression
- Bipolar disorder
- Hypercoagulability (inherited or acquired)
- Ischemic stroke
- Acquired small vessel ischemic disease (due to vascular risk factors)
- Binswanger disease
- Progressive multifocal leukoencephalopathy (in immunosuppressed patients)
- Human immunodeficiency virus (HIV) encephalopathy (in patients with AIDS)
- Neurosyphilis
- Multiple sclerosis
- Primary angiitis of the central nervous system (CNS)
- Lupus cerebritis
- Traumatic brain injury / diffuse axonal injury
- Radiation-induced leukoencephalopathy (in patients with a prior history of brain radiation)
- Methotrexate-induced leukoencephalopathy (in patients with prior history of exposure to methotrexate)
- Gliomatosis cerebri (typically will present with asymmetrical changes on brain MRI)
- CNS lymphoma
- Fabry disease
- Adult-onset autosomal dominant leukodystrophy
- X-linked adrenoleukodystrophy
- Metachromatic leukodystrophy
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
- Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
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Management Pearls
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Therapy
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References
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Last Reviewed:08/27/2019
Last Updated:08/29/2019
Last Updated:08/29/2019