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CADASIL: underdiagnosed in psychiatric patients?

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Leyhe T, Wiendl H, Buchkremer G, Wormstall H. CADASIL: underdiagnosed in psychiatric patients?

Acta Psychiatr Scand 2004: 1–5. © Blackwell Munksgaard 2004. Objective: 

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is exclusively related to symptoms of the central nervous system. Retrospectively in up to 15% the initial presentation is psychiatric disturbances. In these cases the diagnosis often is delayed or missed. Method: 

Two cases of CADASIL diagnosed in a psychiatric hospital are presented. Results: 

Both patients were admitted to the gerontopsychiatric department (one because of a suicidal attempt and a depressive episode, the other because of cognitive decline and progressive personal neglect). Brain magnetic resonance imaging (MRI) showed severe leukoencephalopathy in the absence of cardiovascular risk factors. In both cases, diagnosis of CADASIL was made by the identification of specific granular osmiophilic material in skin biopsies. Conclusion: 

Brain MRI should be performed in all cases of late onset of severe psychiatric symptoms. CADASIL should be considered as a possible differential diagnosis whenever a marked leukoencephalopathy is detectable. Diagnosis can be verified by taking a skin biopsy or by specific genetic testing.
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Keywords: CADASIL; cognitive impairment; dementia; depression; mood disorder; psychiatric disturbances

Document Type: Case Report

Affiliations: 1: Department of Psychiatry and Psychotherapy, University of Tübingen 2: Department of Neurology, Hertie Institute of Clinical Brain Research, University of Tübingen, Tübingen, Germany

Publication date: 2005-05-01

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