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1.
Cureus ; 16(5): e60165, 2024 May.
Article in English | MEDLINE | ID: mdl-38868233

ABSTRACT

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.

2.
Cureus ; 16(4): e58908, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38800185

ABSTRACT

In older adults, diagnosing, treating, and preventing urinary tract infections (UTIs) can be challenging. This case is of an 82-year-old female of white descent, who was admitted to a post-acute care facility following hospitalization for delirium and a UTI. Hypoactive delirium may be the only clinical manifestation of recurrent UTI. Due to challenges in obtaining a history from this patient with dementia, she had to be admitted multiple times for sepsis. During her final hospitalization, a CT scan of the abdomen and pelvis was ordered, which revealed an obstructed kidney stone as the cause of her recurrent UTIs. Recurrent UTIs especially in patients with dementia should prompt further imaging to look for kidney stones. Factors like dehydration and poor oral intake are risk factors for kidney stones, which patients with dementia are susceptible to.

3.
Radiol Case Rep ; 18(11): 4066-4070, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37701360

ABSTRACT

We present a case report of a 20-year-old male who suffered a stab injury to the left supraclavicular region, resulting in the formation of a pseudoaneurysm of the left subclavian artery. Initial endovascular management with a self-expandable covered stent graft showed promising results, but recurrence with proximal and distal end leaks necessitated further intervention. The patient's financial constraints delayed subsequent treatment, leading to worsening symptoms, including left upper limb paraparesis. Facing technical challenges due to the large size of the aneurysm and proximity to the vertebral artery, a vertebral artery confluence was performed, followed by a longer stent-graft placement to address the pseudoaneurysm successfully. This case highlights the potential advantages of endovascular approaches in complex subclavian artery injuries and emphasizes the importance of timely intervention to avoid complications and improve patient outcomes.

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