‘Smoke in the air’: a rare cerebrovascular cause of neurological signs and symptoms in a young adult

Abstract

Moyamoya disease is a rare neurological condition that affects children and adults of all ages. It is characterized by chronic, progressive stenosis of the circle of Willis that ultimately leads to the development of extensive collateral vessels. Presenting symptoms are usually due to cerebral ischemia or hemorrhage. The Japanese term moyamoya (meaning puffy or obscure) was coined to describe the characteristic ‘smoke in the air’ appearance of these vessels on cerebral angiography. Moyamoya has the highest recorded incidence in Japan (0.28 per 100,000). In the west it is an extremely rare condition with an overall incidence of (0.086 per 100,000) in the Western United States. Etiology for the most part is unknown; however, genetic susceptibility related to RNF213 gene on chromosome 17q25.3 has been suggested. Moyamoya is being diagnosed more frequently in all races with varying clinical manifestations. Moyamoya disease is a rare progressive neurologic condition characterized by occlusion of the cerebral circulation with extensive collaterals recruitment in children and adults. Distinguished radiological findings confirm the diagnosis. Early recognition and swift institution of therapy is vital in order to minimize neurological deficits. We present the case of a 19-year-old African American female who presented with left-sided parastheia, weakness, and headache for 2 days duration.

Clinical Characteristics and Multi-Model Imaging Analysis of Moyamoya Disease: An Observational Study

“…Children with MMD often suffer from recurrent cerebral ischemia, resulting in hemiplegia, speech, sensory, and cognitive impairments, mental retardation, and seizures. In contrast, adults with MMD often experience subarachnoid hemorrhage (SAH) or intraparenchymal hemorrhage, resulting in headache, vomiting, meningeal irritation, and symptoms corresponding to the location of the hemorrhage (12,16). Hence, intracerebral hemorrhage (ICH) is more common in adults with MMD than in children with MMD (1,18).…”

Editor's notes

“…Case reports include a renal infarct following treatment for migraine ( 6 ); a salmonella-associated mycotic aneurism ( 7 ); a case-based review of the literature of the Brugada syndrome ( 8 ); cardiac tamponade caused by a seroma, years after a thymectomy for myasthenia gravis ( 9 ); Moyamoya disease in a 19-year-old American ( 10 ); presyncope in a patient from Shanghai due to non-compaction cardiomyopathy ( 11 ); and dramatic ECG images in a case of extraordinary hyperkalemia ( 12 ). Two dramatic clinical images are reported: Sister Mary Joseph's nodule secondary to lung cancer abdominal metastases ( 13 ) and a case of nummular eczema ( 14 ) submitted from Katmandu, Nepal.…”