CADASIL: case report

Silva, Júlio César Vasconcelos da; Gasparetto, Emerson L.; Engelhardt, Eliasz

doi:10.1590/s1980-57642012dn06030013

Cited by 1 publication

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References 21 publications

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“…In five of these cases, Tojima et al [ 6 ], Hsiao et al [ 7 ], Dunphy et al [ 8 ], Spearman et al [ 10 ], and Ganesan et al [ 12 ], patients presented with slurred speech and right-sided hemiplegia with lacunar infarcts found on MRI brain. In three cases, Algahtan et al [ 9 ], da Silva et al [ 11 ], and Lahkim et al [ 13 ], patients presented with migraines and an MRI brain negative for acute stroke. One case report by Ashraf et al [ 14 ] describes a 33-year-old female with right upper and lower extremity paresthesia and a brief aphasic episode with a CT head and MRI brain negative for stroke.…”

Section: Discussionmentioning

confidence: 99%

Unveiling a Neurological Enigma: Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Presenting With Facial Palsy

Jain,

Sirekulam,

Kinthada

et al. 2024

Cureus

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in the brain. It leads to neurological symptoms, disability-adjusted life years, and difficult emotional and physical situations for patients and their families. As unusual brain symptoms appear, it becomes important to understand the different clinical manifestations of CADASIL. Our case report and review examine several cases to demonstrate different presentations and management strategies of CADASIL.A 52-year-old male with a family history of strokes at a young age from his father and paternal grandfather presented to a neurology clinic for left facial droop and drooling. Brain magnetic resonance imaging showed extensive periventricular and subcortical white matter disease, including the external capsule and subcortical white matter of the temporal lobe. Findings were suggestive of small vessel vasculopathy. A cerebral angiogram showed that all large extra-and intracranial vessels were patent without evidence of aneurysm formation. There was no obvious evidence of beading of the distal intracranial vessels. Cerebrospinal fluid studies were normal. The NOTCH3 mutation was sent to test for CADASIL, which came back positive. The patient was started on aspirin (81 mg) and atorvastatin (20 mg) daily. The patient was counseled on the possibility of having an ischemic or hemorrhagic stroke. Aspirin and atorvastatin were continued, a neuropsychological evaluation was ordered, and CADASIL genetic counseling and testing were offered to him and his children. Over several years, patients developed several strokes and seizures due to infarcts. He also developed intraparenchymal hemorrhage complicated by dysphagia, requiring a feeding tube. Due to his severe physical debility, he was discharged to a nursing home for rehabilitation, where he did not improve with therapy and remained bedbound. He was discharged and sent home with his family.CADASIL can present as a diagnostic challenge due to its common presentation with migraines, transient ischemic attacks, and strokes, with or without risk factors. This unique presentation of CADASIL with facial palsy highlights the importance of emerging atypical presentations and the need for a detailed history of neuroimaging, family history, and personal history of neurovascular events. By accurately diagnosing the condition, patients and families can be counseled on the disease course and genetics. Management requires a multidisciplinary approach with neurology, genetic counseling, physical therapy, psychology, and psychiatry if depression or anxiety is present, with the aim of improving the patient's quality of life.

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