EC Clinical and Medical Case Reports

Moyamoya disease is a rare cerebrovascular condition marked by progressive narrowing of the internal carotid artery and the circle of Willis, leading to the formation of collateral vessels in the basal ganglia. While the exact cause remains unknown, Moyamoya syndrome is associated with conditions like neurofibromatosis type I, down syndrome, radiation exposure, and, less commonly, sickle cell disease. Sickle cell disease, a genetic disorder causing abnormal hemoglobin production and red blood cell deformation, can lead to stroke and vascular complications. This report discusses a rare case of a 5-year-old boy with sickle cell disease who developed left-sided weakness and aphasia at age 2. Brain MRI revealed sequelae of anoxic-ischemic encephalopathy and characteristic "puff of smoke" collateral vessels indicative of Moyamoya. The patient was treated conservatively and discharged with minimal improvement in weakness, highlighting the rare association of Moyamoya with sickle cell disease.

 Keywords: Sickle Cell Disease; Moyamoya Syndrome; Pediatric

1. Shah F and Dwivedi M. “Pathophysiology and recent therapeutic insights of sickle cell disease”. Annals of Hematology 5 (2020): 925-935.
2. Ohene-Frempong K., et al. “Cerebrovascular accidents in sickle cell disease: rates and risk factors”. Blood1 (1998): 288-294.
3. Webb J and Kwiatkowski JL. “Stroke in patients with sickle cell disease”. Expert Review of Hematology 63 (2013): 301-316.
4. Scott RM and Smith ER. “Moyamoya disease and moyamoya syndrome”. New England Journal of Medicine 12 (2009): 1226-1237.
5. Soares D., et al. “Moyamoya syndrome in sickle cell anaemia: a cause of recurrent stroke”. BMJ Case Reports (2014): bcr2014203727.
6. Koh JW., et al. “Moyamoya disease in sickle cell disease: A review”. Journal of Stroke and Cerebrovascular Diseases 8 (2017): 1790-1796.
7. Mimi L., et al. “Moya Moya disease: about 3 cases and a review of literature”. Diagnostic and Interventional Imaging 1 (2019): 22-31.
8. Tavares Bello C., et al. “Down syndrome and Moyamoya disease: an unusual cause of stroke”. BMJ Case Reports (2017): bcr-2017-219894.
9. Odriozola EA., et al. “Radiological findings in Moya Moya” (2013).
10. Hertza J., et al. “Moyamoya disease: a review of the literature”. Applied Neuropsychology: Adult 1 (2014): 21-27.
11. Osborn AG., et al. “Diagnostic imaging: brain. 3^rd edition”. Philadelphia, PA 19103-2899: Elsevier. ISBN: 978-0-323-37754-6 chapter 81: Moyamoya (2016): 294-297.
12. Yamada I., et al. “Moyamoya disease: comparison of assessment with MR angiography and MR imaging versus conventional angiography”. Radiology1 (1995): 211-218.
13. Kim T., et al. “Moyamoya disease: treatment and outcomes”. Journal of Stroke 1 (2016): 21-30.