Just a "Puff of Smoke"

A 44 year old woman with a history of stroke s/p aneurysm clipping, seizure, and substance abuse was brought to the hospital after a family member received a call from her friend saying she was acting unusual and may have had a seizure while hanging out on the street. At her baseline, she needed modest assistance in daily activities after her CVA and conversed without issue. Her mother died of a stroke. On exam the patient was afebrile, normotensive with mild tachycardia to 110. The patient moved all her extremities but was lethargic, agitated, responded to pain but would not follow commands and moaned nonsensical speech. Labs were unrevealing with mild leukocytosis (WBC: 11.7 × 109/L);, normal metabolic panel, ammonia, glucose, and a negative urine toxicology. Initial computed tomography (CT); of her head demonstrated atrophy with large area of encephalomalacia in Left middle cerebral artery (MCA); area. Repeat CT, 1 day later showed edema and sulcal effacement in the right occipital, posterior, temporal, and posterior parietal lobes with evolving infarct in right posterior cerebral artery (PCA); and right MCA territories. CT angiogram showed occlusion of the clinoid segments of both internal carotid arteries, consistent with Moyamoya pattern of collateral flow. Neurosurgery was consulted and recommended cerebral bypass. The patient was unable to consent for surgery and her closest relative refused surgery. The patient received supportive therapy with minimal improvements in word findings/ communication and no improvement in inability to perform daily activities. She was accepted to inpatient stroke rehab upon discharge.

Moyamoya disease is a rare vascular condition which leads to progressive stenosis of the internal carotid arteries through wall thickening of the associated arteries which leads to progressive strokes and the development of collateral vessels. Moyamoya is a Japanese term for a "puff of smoke" which describes the appearance on imaging of the small collateral vessels that develop around the progressively blocked arteries. There is a hereditary association and our patient's mother likely had the disease as well. The prognosis is poor and the disease will lead to a cognitive decline with associated CVAs. Treatment includes cerebral revascularization or bypass. The case highlights the need for early diagnosis, as our patient was too debilitated to make medical decisions for treatment at the time of her diagnosis.