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CARASIL.

A G Diwan¹, D G Bhosle, Anita Vikram

¹Department of Medicine, B.V.U. Medical College and Bharti Hospital, Pune.

The Journal of the Association of Physicians of India

|October 4, 2012

Summary

This summary is machine-generated.

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) is a rare genetic disorder. This case highlights its early-onset strokes, neurological deficits, and characteristic neuroimaging findings in a 46-year-old male.

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Area of Science:

Neurology
Genetics
Radiology

Background:

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) is a rare genetic vasculopathy.
It is characterized by adult-onset ischemic strokes and progressive neurological dysfunction.

Observation:

A 46-year-old male presented with early-onset recurrent strokes (before age 35).
The patient exhibited diffuse alopecia and severe degenerative changes in the lumbar spine and knee joints.
He was normotensive throughout his clinical course.

Findings:

Neuroimaging, specifically MRI, revealed diffuse hyperintense lesions in the cerebral white matter and basal ganglia.
These findings are consistent with the characteristic leukoencephalopathy and lacunar infarcts seen in CARASIL.
Radiographs showed significant degenerative joint disease.

Implications:

This case underscores the importance of recognizing CARASIL in young adults with unexplained recurrent strokes.
Early diagnosis can facilitate genetic counseling and management of associated symptoms.
Further research into the pathogenesis of CARASIL may reveal novel therapeutic targets for cerebrovascular diseases.