Title : Behind the symptoms: Decoding moyamoya disease in an adult female
Abstract:
Background:
We report a case of a middle-aged woman admitted due to near syncope who presented with transient neurological symptoms for months, but had an unremarkable initial neurological examination in the emergency room. Subsequent advanced imaging unveiled a diagnosis of Moyamoya disease.
Case description:
A 46-year-old female presented with a near-syncope episode accompanied by sudden left leg and arm weakness upon waking. She had experienced intermittent episodes of left-sided weakness, ataxia, and headaches progressing from the back to the right side of her head over several months. These episodes were transient and typically resolved within minutes. Additionally, she reported left hemibody paresthesia but denied memory loss, aphasia, or vision changes. She was not on any medications. Her medical, social, and surgical histories were unremarkable, but family history revealed diabetes, hypertension and hyperlipidemia.
Hospital course:
Upon admission, the patient’s neurological exam was within normal limits and reassuring. Initial workup such as routine labs showed thrombocytosis and remaining labs were within normal limits. EKG and echocardiogram are unremarkable. Neurology was consulted and TIA vs. stroke workup was initiated. CT without contrast showed left frontal subacute ischemic stroke and no carotid stenosis on Doppler ultrasound was noted. MRI brain showed restricted diffusion in right middle cerebral artery (MCA) and posterior cerebral artery (PCA) territories, in the watershed region suggesting evolving infarction. Based on the image pattern and intermittent symptoms, the differential for subacute sinus infarct was established. To confirm the later, the patient underwent CT venogram (CTV). CTV showed non-visualization of right internal carotid artery (ICA) and right MCA, minor right parietal hemorrhage, and ischemic changes in the right MCA area. These findings were suggestive of Moyamoya disease (MMD). Neurosurgery was consulted and recommended CT angiography (CTA) and CT perfusion (CTP) for further elucidation of the new differential. CTP revealed decreased perfusion in right cerebral hemisphere and left anterior cerebral artery (ACA) territory. CTA noted recent ischemic changes and congenital hypoplasia of the right internal carotid artery. The following day, neurointerventional radiology performed a cerebral angiogram which revealed narrowing distal ICA bilaterally with occlusion of right MCA and left A1 segment. Deep and superficial collateral flow from posterior circulation collaterals and anterior circulation collaterals were also noted. Based on the clinical presentation and angiographic findings, a diagnosis of bilateral MMD was made. She was discharged on aspirin 81mg and is following-up outpatient with neurosurgery for direct revascularization surgery.
Discussion:
MMD is a chronic vasculopathy marked by narrowing of the internal carotid artery and circle of Willis, leading to the development of fragile collateral vessels in response to chronic brain ischemia. The symptomatic disease primarily manifests in two age peaks: 5-9 and 45-49 years. Moyamoya patients often experience cerebral ischemic events or seizures, with adults specifically facing intracerebral hemorrhage. Symptoms stem from cerebral ischemia or compensatory vessel growth. Treatments aim to enhance cerebral blood flow, via direct or indirect revascularization.
Conclusion:
Moyamoya disease lacks a curative treatment, making early diagnosis and surgical intervention vital. Effective MMD management necessitates a collaborative interprofessional approach.
Audience Take Away
- The case report provides an in-depth analysis of a patient presenting with a compilation of neurological symptoms leading to the diagnosis of Moyamoya disease. For medical professionals, especially those in neurology, emergency medicine, or radiology, this case report can help them identify and diagnose similar cases in the future. Recognizing the signs, symptoms, and imaging findings early on can lead to timely interventions and potentially better patient outcomes
- The detailed account of this patients’ presentation, paired with the imaging findings and the ultimate diagnosis that is quite rare in the occidental population, makes this a valuable resource. Faculty involved in medical teaching, especially those focused-on neurology or radiology, can incorporate this as a case study in their lessons and include Moyamoya disease as a differential diagnosis for the etiology of ischemic stroke
- Hospitals aiming to improve their diagnostic accuracy for cerebrovascular diseases can use this report as a basis for training sessions or workshops. The insights from this case can assist in designing better diagnostic workflows,ensuring that similar cases are identified promptly and managed appropriately, whether that be conservatively or through surgical revascularization
