CADASIL: a case report
DOI:
https://doi.org/10.32385/rpmgf.v38i1.12952Keywords:
CADASIL, Receptor, NOTCH3, Dementia, Dementia, Vascular, Leukoencephalopathies, StrokeAbstract
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease, caused by mutations in the NOTCH3 gene. Its clinical manifestations typically begin in young adults and include migraine with aura, recurrent transient ischemic attacks (TIA) and strokes, psychiatric disorders, and dementia. The diagnosis is established through genetic testing. This case report aims to alert CADASIL, highlighting the symptoms, diagnosis, guidance, and prognosis.
Case description: A 51-year-old woman, was evaluated in 2011 at her family health unit for hypoesthesia of the right hemiface and upper limb. Neurological examination showed decreased tactile sensitivity in the right hemibody. Referred to the emergency department, she underwent cranioencephalic computed tomography which showed microangiopathic ischemic leukoencephalopathy, having been discharged after reversing the deficits, diagnosed with TIA, and medicated with acetylsalicylic acid. Accompanied by a neurology consultation, she underwent brain magnetic resonance (MR) that revealed ischemic leukoencephalopathy, and she was also medicated with a statin. He had three more TIA until 2018 when he underwent brain MR that showed lesions suggestive of CADASIL. The genetic study was positive. Currently, with 60 years old, and after multiple ischemic events, the patient reports increasingly frequent forgetfulness, difficulties in naming, and verbal fluency, with a progressive decline in her cognition and subsequent functional limitation being evident.
Comments: There is no effective treatment for CADASIL. Its approach consists of genetic counselling, control of vascular risk factors and symptoms. Representing a diagnostic challenge, the family doctor may assume an important role in its suspicion, considering the privileged knowledge of the individual and his family. Finally, the family doctor will accompany the patient in all phases of the disease's evolution, providing the necessary support to him and to his family.
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