Moyamoya in an infant with Down syndrome

Abstract

In moyamoya disease, the anterior blood circulation in the brain is occluded and the characteristic appearance of the disease is seen in angiography. Moyamoya disease may be primary or secondary to diseases or syndromes such as Down syndrome. A 20-month-old girl with Down syndrome was admitted because of weakness and convulsions. She had left-sided hemiparesis. Cranial magnetic resonance imaging showed hyperintense lesions in both cerebral hemispheres in T2-fluid attenuated inversion recovery, and cranial angiography showed approximately 80–90% stenosis in the proximal region of the right middle cerebral artery fork, and left middle cerebral artery occlusion in the proximal region; left middle cerebral artery vascularization was provided by collateral arteries. These findings were consistent with those of moyamoya disease. Some proteins affecting arterial physiology are encoded on chromosome 21. These proteins are probably responsible for moyamoya disease in patients with Down syndrome. Our patient is one of the youngest with reported moyamoya syndrome and Down syndrome, and may point to the early onset of the disease.

Keywords

Moyamoya syndrome - Down syndrome - infarction - angiography