What is the most appropriate diagnostic study for a 39-year-old woman with intermittent loss of vision, headache, slurred speech, and dysarthria, with a history of hypertension managed with lisinopril (angiotensin-converting enzyme inhibitor), polycystic kidney disease (PKD), and a 20 pack-year history of cigarette smoking?

From the Guidelines

The most appropriate diagnostic study for this 39-year-old woman with intermittent loss of vision, headache, slurred speech, and dysarthria is a brain MRI with contrast. This patient presents with concerning neurological symptoms that collectively suggest an intracranial process. Given her history of polycystic kidney disease (PKD), these symptoms raise suspicion for an intracranial aneurysm, which occurs in approximately 10-20% of patients with PKD 1. MRI with contrast would provide detailed visualization of brain structures and vasculature, allowing for detection of aneurysms, arteriovenous malformations, or other vascular abnormalities.

Key Considerations

• The patient's risk factors, including hypertension, smoking history, and family history of PKD, further increase her likelihood of cerebrovascular complications 1.
• The American Heart Association/American Stroke Association guidelines recommend MRI, magnetic resonance angiography, magnetic resonance venography, and CTA or CT venography to identify specific causes of hemorrhage, including arteriovenous malformations, tumors, moyamoya, and cerebral vein thrombosis 1.
• A recent study published in 2022 found that patients with lobar ICH and age <70 years, or deep/posterior fossa ICH and age <45 years, or deep/posterior fossa and age 45 to 70 years without hypertension, had a higher diagnostic yield for diagnosis of a macrovascular cause with CTA 1.
• However, the most recent guidelines from 2024 recommend MRI as the preferred imaging modality for follow-up of patients with intraparenchymal hemorrhage, as it provides detailed visualization of brain structures and vasculature without radiation exposure 1.

Diagnostic Approach

• Brain MRI with contrast is the recommended initial diagnostic study for this patient, given its high sensitivity and specificity for detecting vascular abnormalities and its ability to provide detailed visualization of brain structures and vasculature.
• If the MRI is inconclusive or suggests a vascular abnormality, further imaging with CTA or digital subtraction angiography (DSA) may be considered.
• The patient's symptoms and history suggest a high likelihood of an underlying vascular cause, and therefore, a comprehensive diagnostic approach is necessary to determine the underlying cause of her symptoms.

From the Research

Diagnostic Approach

The patient's symptoms of intermittent loss of vision, headache, slurred speech, and dysarthria, along with a history of hypertension, polycystic kidney disease (PKD), and cigarette smoking, suggest a possible vascular or neurological condition.

Relevant Diagnostic Studies

• Computed Tomography (CT) scans can detect irregularly hyperdense areas with spotlike contrast enhancement, but may not be as sensitive as Magnetic Resonance Imaging (MRI) in detecting cerebral arteriovenous malformations (AVMs) 2.
• MRI is superior to CT in detecting and recognizing AVMs, and can provide precise information on size and location of the AVM 2.
• In patients with autosomal dominant polycystic kidney disease, high-resolution CT or MRI of the head can be used for the noninvasive, presymptomatic diagnosis of intracranial aneurysms 3.
• Computed Tomography Angiography (CTA) and Magnetic Resonance Angiography (MRA) have good sensitivity and specificity for detecting intracranial vascular malformations, although CTA and MRA may not replace catheter intra-arterial digital subtraction angiography (IADSA) for surgical planning 4.
• Noncontrast head CT remains the most commonly used initial imaging tool to evaluate stroke, while CTA is used to identify intracranial large vessel occlusions and cervical carotid or vertebral artery disease 5.

Diagnostic Recommendations

• Given the patient's symptoms and history, an MRI or MRA may be the most appropriate initial diagnostic study to evaluate for possible cerebral arteriovenous malformations or intracranial aneurysms 2, 3, 4.
• A noncontrast head CT may also be considered as an initial imaging tool to evaluate for stroke or other acute neurological conditions 5.
• Further diagnostic testing, such as CTA or IADSA, may be necessary depending on the results of the initial imaging studies 4, 5.