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CADASIL: case report
Julio Cesar Vasconcelos da Silva1, Emerson L Gasparetto2, Eliasz Engelhardt3
1Neuropsicólogo, Mestre em Clínica Médica/Neurologia-UFRJ, Aluno de Doutorado-CDA/IPUB, Universidade Federal do Rio de Janeiro, Rio de Janeiro RJ, Brazil.
Insights
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic brain disorder. Diagnosis involves skin biopsy or Notch-3 gene testing, confirmed by neuropsychological and imaging studies in a 52-year-old male patient.
Area of Science:
- Neurology
- Genetics
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder.
- It is caused by mutations in the Notch-3 gene, affecting small blood vessels in the brain.
Observation:
- A 52-year-old man presented with recurrent transient ischemic attacks (TIAs), migraine, and progressive neurological deficits.
- Neuropsychological assessment using the CERAD battery revealed significant executive dysfunction, memory, language impairments, and apraxia.
Findings:
- Genetic analysis confirmed a Notch-3 gene mutation, leading to a CADASIL diagnosis.
- Neuroimaging indicated predominant involvement of the frontal lobes and deep brain structures.
Implications:
- This case highlights the importance of integrating clinical, neuropsychological, genetic, and imaging data for CADASIL diagnosis.
- Early diagnosis and understanding the pattern of brain involvement are crucial for managing CADASIL patients and their progressive neurological decline.
Abstract:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.
