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"String hallucinations": a case of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and
Gertrude Okello1, Norman Poole2, Daniel Chung3
1Liaison Psychiatry Department, North London NHS Foundation Trust, London, United Kingdom.
Insights
This case report details a patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) experiencing visual and somatic disturbances after a thalamic stroke. Lamotrigine and olanzapine offered some symptom relief.
Area of Science:
- Neurology
- Genetics
- Vascular Neurology
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder caused by NOTCH3 gene mutations.
- It often leads to hypoperfusion, ischemic events, and lacunar infarcts, particularly in the thalamus, basal ganglia, and brainstem.
Purpose of the Study:
- To describe a case of CADASIL with a thalamic stroke.
- To report the resulting visual and somatic disturbances and the patient's response to psychotropic medications.
Main Methods:
- A single-case report methodology was employed.
- Clinical records of a 52-year-old male with a confirmed NOTCH3 mutation (c.449A>G p.(Tyr150Cys)) and a left thalamic stroke were analyzed.
- The patient's response to various psychotropic medications was documented.
Main Results:
- The patient experienced visual and somatic disturbances following a thalamic stroke.
- Antidepressants and a cholinesterase inhibitor showed no perceived benefit.
- Lamotrigine and olanzapine provided the most significant reduction in symptom-related distress.
Conclusions:
- This case highlights unusual perceptual disturbances in CADASIL post-thalamic stroke.
- Current CADASIL management focuses on symptom control.
- Further research is needed to understand the underlying mechanisms and develop targeted treatments.
Introduction:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary condition primarily caused by mutations on the NOTCH3 gene, leading to hypoperfusion and ischaemic events, with two-thirds of cases having lacunar infarcts mostly within the basal ganglia, thalamus, and brainstem. Here, we focus on an individual with CADASIL who had a thalamic stroke, which preceded symptoms of visual and somatic disturbances.
Methods:
A single-case report is used to describe the visual and somatic disturbances experienced by a 52-year-old gentleman following a left-sided thalamic stroke, who is genetically heterozygous for c449A > G p.(Tyr150Cys) mutation in the NOTCH3 gene consistent with CADASIL, as well as their response to various psychotropic medications, through information gathered from the patient's clinical records.
Results:
After trialling several antidepressants, and a trial of a cholinesterase inhibitor, there was no perceived benefit reported; with only lamotrigine, previously prescribed for thalamic pain, and olanzapine, providing the least amount of distress associated with their symptoms.
Conclusions:
As the management of CADASIL appears to focus on symptom control, this case highlights the need for further research to elucidate the mechanisms driving such unusual perceptual disturbances to inform potential future treatments.
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