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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Presenting as
Muhammad Atif Ameer1, Beenish Sohail Bhutta2, Neelma Asghar1
1Department of Internal Medicine, Punjab Rangers Teaching Hospital, Lahore, PAK.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic brain disorder. This case highlights the diagnostic challenges and eventual identification of CADASIL in a middle-aged patient presenting with stroke-like symptoms.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease.
- It is caused by mutations in the NOTCH3 gene, affecting cerebral blood vessels.
- CADASIL typically manifests in middle-aged individuals with neurological and psychiatric symptoms.
Observation:
- A 40-year-old patient presented with acute symptoms including headache, blurred vision, right-sided weakness, and behavioral changes.
- Initial diagnostic considerations included central nervous system infections, stroke, transient ischemic attack, and inherited conditions like MELAS.
- A comprehensive systemic and genetic evaluation was performed.
Findings:
- The patient's clinical presentation and diagnostic workup confirmed a diagnosis of CADASIL.
- NOTCH3 gene mutations are the underlying cause of this hereditary arteriopathy.
- The case underscores the varied clinical spectrum of CADASIL.
Implications:
- Accurate diagnosis of CADASIL is crucial for appropriate patient management and genetic counseling.
- Understanding CADASIL's genetic basis aids in differential diagnosis of cerebrovascular events.
- This case contributes to the literature on CADASIL presentation and diagnosis.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy with a genetic predilection for the cerebral vessels. It is caused by mutations in the NOTCH3 gene and commonly occurs in middle-aged individuals. Clinical manifestations range from stroke, transient ischemic attack, and migraine to neuropsychiatric symptoms. We present a case of a 40-year-old patient who came in with headache, blurry vision, progressive right-sided weakness, and behavioral changes. The diagnostic workup included several possibilities, including central nervous system (CNS) infection, stroke, transient ischemic attack, and inherited disorders like mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS). After proper systemic and genetic workup, we diagnosed this as a case of CADASIL.
