A 9 year old kid is admitted to the hospital with complaints of headache, difficulty in concentration and weakness of the right side of the body. These episodes are aggravated on crying and when there is hyperventilation.
This child is diagnosed with Moyamoya disease which is a rare cerebrovascular disease that affects the brain due to narrowing of the carotid arteries at the base of the brain hence hindering blood flow to different parts of brain thereby resulting in transient ischemic attack and hemorrhage that gets portrayed in the form of stroke.
This is commonly seen in children of age group between 5 to 10 and in adults of age group between 30 to 50. This disease mainly occurs due to mutation in the gene RNF213. Environmental factors that trigger the release of inflammatory substances in genetically predisposed individuals is another influencing factor.
As a result of gene mutation, there is an abnormal proliferation of vascular endothelial cell which thereby obstructs the artery and the flow of blood.
It is confirmed with the help of a CT scan where it shows a puff of smoke appearance. This appearance is because of the development of collateral pathway to supply blood due to obstruction of blood vessels.