Down Syndrome associated to Moyamoya Syndrome: Case report

Authors

DOI:

https://doi.org/10.33448/rsd-v11i13.35923

Keywords:

Down Syndrome; Moyamoya Syndrome; Cerebrovascular Disease; Ischemic Stroke.

Abstract

Moyamoya syndrome (MMS) is a rare cerebrovascular condition that primarily affects female people of Japanese origin. Moyamoya is a term of Japanese origin meaning "fog", due to the angiographic findings in which collateral vessels are formed with changes in flow. There is the possibility of bilateral and progressive stenosis, with consequent occlusion of the distal portion of the internal carotid artery and its branches, and thrombosis, transient repeated ischemia, and intraparenchymal hemorrhages are common findings. Because it is a rare disease, of an etiology not fully described, and because of its clinical repercussions, this case aims to study this pathology and its inclusion as a differential diagnosis of sudden neurological deficit, with a hypothesis of stroke in young patients, especially in carriers of Down Syndrome (DS). Thus, through early diagnosis and its consequent treatment, a better prognosis can be obtained, thus entailing a better quality of life for the patient and his family, and reducing the risk of recurrence.

References

Adamo, J.Jr, Paradela, M.V.D.H & Horigushi, M. (2001). Doença cerebrovascular oclusiva crônica (moyamoya): relato de caso. Arquivos de Neuro-Psiquiatria, 59(2B), 435-439. 10.1590/S0004-282X2001000300024

Amlie-Lefond, C., Zaidat, O.O. & Lew, S.M. (2011). Moyamoya disease in early infancy: case report and literature review. Pediatr Neurol, 44(4), 299-302. 10.1016/j.pediatrneurol.2010.10.016

Angie, Z., Nolan, B., Barry, C., Jessica, K.C., Ransom, R.C. & Frank, P.K.H. (2021). Updates in the management of moyamoya disease. Interdisciplinary Neurosurgery, 23, 100976. 10.1016/j.inat.2020.100976

Bang, O.Y., Fujimura, M. & Kim, S.K. (2016). The Pathophysiology of Moyamoya Disease: An Update. J Stroke, 18(1), 12-20. 10.5853/jos.2015.01760

Bersano, A., Guey, S., Bedini, G., Naca, S., Hervé, D., Vajkoczy, P. et al. (2016). Research progresses in understanding the pathophysiology of Moyamoya disease. Cerebrovasc Dis, 41(3-4), 105-18. 10.1159/000442298

Currie, S., Raghavan, A., Batty, R., Connolly, D.J.A. & Griffiths, P.D. (2011). Childhood Moyamoya disease and Moyamoya syndrome: a pictorial review. Pediatr Neurol, 44(6), 401-13. 10.1016/j.pediatrneurol.2011.02.007

Fonseca, G. S. G. B., França, C. N. L., Fontoura, E. A. F., Coelho, C. N. do N., & Silva, A. C. e. (2021). Doença de moyamoya: um relato de caso de um brasileiro de 46 anos de idade. JBNC – Jornal Brasileiro de Neurocirurgia, 32(1), 101–109. 10.22290/jbnc.v32i1.1949

Guey, S., Tournier-Lasserve, E., Hervé, D. & Kossorotoff, M. (2015). Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet, 8, 49-68. 10.2147/2FTACG.S42772

Hayashi, T., Shirane, R., Fujimura, M. & Tominaga T. (2010). Postoperative neurological deterioration in pediatric Moyamoya disease: watershed shift and hyperperfusion. J Neurosurg Pediatr, 6(1), 73-81. 10.3171/2010.4.PEDS09478

Kim, J.S. (2016). Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. Journal of stroke. 18 (1), 2-11. 10.5853/jos.2015.01627

Kuroda, S. & Houkin, K. (2008). Moyamoya disease: current concepts and future perspectives. Lancet Neurol, 7(11), 1056-66. 10.1016/S1474-4422(08)70240-0

Lamônica, D.A.C., Ribeiro, C.C., Ferraz, P.M.D.P. & Tabaquim, M.L.M. (2016). Doença de Moyamoya: impacto no desempenho da linguagem oral e escrita. CoDAS, 28(5), 661-665. 10.1590/2317-1782/20162016010

Lee, J.Y., Phi, J.H., Wang, K.C., Cho, B.K., Shin, M.S. & Kim, S.K. (2011). Neurocognitive profiles of children with Moyamoya disease before and after surgical intervention. Cerebrovasc Dis, 31(3), 230-7. 10.1159/000321901

Lima, T.T.F., Gallo, P., Raupp, S.F., Mendonça, R. & Soares, V.B. (2006). Doença de moyamoya: relato de caso e revisão de literatura brasileira. Arq. Bras. Neurocir, 25(1), 34-39. 10.1055/s-0038-1625480

Nv, X. (2019). Hemorrhagic Factors of Moyamoya Disease. American Journal of Neuroradiology, 40 (10), 1672-1673. 10.3174/ajnr.A6217

Roque, J.R.F.N. (2016). Doença de Moyamoya: Série de casos e revisão da literatura. Dissertação (Mestrado em Medicina), Clínica Universitária de Imagiologia, Universidade de Lisboa, Portugal

Silva, C.O.G. & Ribeiro, R.S. (2020). Doença de Moyamoya: um relato de caso. Braz. J. Hea. Rev.Curitiba, 6(3), 16431-16439. 10.34119/bjhrv3n6-065

Silva, C.R., Castro-Flores, J.A., Roelke, C.E., Toita, M.H., Souza, R.B., Aguiar, U.P. et al. (2014). Revascularização cerebral na doença de moyamoya. Arq Bras Neurocir, 33(3),266-72. 10.1055/s-0038-1626224

Takanashi, J. (2011). Moyamoya disease in children. Brain Dev, 33(3), 229-34. 10.1016/j.braindev.2010.09.003

Vetrano, I.G., Bersano, A., Canavero, I., Restelli, F., Raccuia, G., Ciceri, E.F. et al. (2021). Characteristics of Moyamoya Disease in the Older Population: Is It Possible to Define a Typical Presentation and Optimal Therapeutical Management? J Clin Med,10(11), 2287. 10.3390/jcm10112287

Yin, R.K. (2015). O estudo de caso. Bookman.

Published

15/10/2022

How to Cite

PACÍFICO, C. S. .; VIANNA, C. C. .; SANTOS FILHO, C. A. dos; FRANCO, R. M. . Down Syndrome associated to Moyamoya Syndrome: Case report. Research, Society and Development, [S. l.], v. 11, n. 13, p. e549111335923, 2022. DOI: 10.33448/rsd-v11i13.35923. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/35923. Acesso em: 28 apr. 2024.

Issue

Section

Health Sciences