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CADASIL: underdiagnosed in psychiatric patients?

T Leyhe¹, H Wiendl, G Buchkremer

¹Department of Psychiatry and Psychotherapy, University of Tübingen, Germany. thomas.leyhe@med.uni-tuebingen.de

Acta Psychiatrica Scandinavica

|April 12, 2005

Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can initially present as psychiatric issues. Early brain MRI and skin biopsies are crucial for diagnosing CADASIL in psychiatric patients, preventing delayed diagnosis.

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Area of Science:

Neurology
Psychiatry
Genetics

Background:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) typically affects the central nervous system.
Psychiatric disturbances are an initial presentation in up to 15% of CADASIL cases, often leading to delayed diagnosis.

Observation:

Two cases of CADASIL diagnosed in a psychiatric hospital setting are presented.
Patients presented with severe psychiatric symptoms including depressive episodes, suicidal attempts, cognitive decline, and personal neglect.

Findings:

Brain MRI revealed severe leukoencephalopathy in both patients without typical cardiovascular risk factors.
Diagnosis was confirmed by identifying characteristic granular osmiophilic material in skin biopsies.

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Implications:

Brain MRI is recommended for all patients with late-onset severe psychiatric symptoms.
CADASIL should be considered in differential diagnoses for unexplained leukoencephalopathy.
Skin biopsy or genetic testing can confirm CADASIL diagnosis.