Affiliations: Department of Child Neurology, Akdeniz University,
Faculty of Medicine, Antalya, Turkey | Department of Radiology, Akdeniz University, Faculty
of Medicine, Antalya, Turkey | Department of Pediatrics, Akdeniz University, Faculty
of Medicine, Antalya, Turkey
Note: [] Correspondence: Dr. Senay Haspolat, Akdeniz University,
School of Medicine, Department of Child Neurology, 07070 Antalya, Turkey. Tel.:
+90 532 651 27 26; Fax: +90 242 227 44 90; E-mail: [email protected]
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
