Anesthetic management in a child with moya-moya disease and sickle cell anemia: Case report

Silva, M. Vinícius Ribeiro e; Mendonça, Fabrício Tavares; Dusi, Rúbia Garcia

doi:10.1016/j.redar.2016.04.003

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…Risk of MA disease has been also attributed to mutations in GUCY1A3 gene, encoding the major nitric oxide receptor in vascular smooth muscle cells (vSMCs) in achalasia cases [ 11 ]. Other sporadic syndromic cases of MA have been reported, as resumed in Table 1 [ 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 ]. However, these observations are not able to fully explain the pathogenesis of MA, which is believed to be much more complex.…”

Section: Introductionmentioning

confidence: 99%

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Sciacca

Rizzo

Bedini

et al. 2018

IJMS

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Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal “moyamoya” vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Herein, we describe the case of a 43 years old woman with bilateral MA and peculiar facial characteristics, having a 484-kb microduplication of the chromosomal region 15q13.3 and a previously unreported 786 kb microdeletion in 18q21.32. This patient may have a newly-recognized genetic syndrome associated with MA. Although the relationship between these genetic variants and MA is unclear, our report would contribute to widening the genetic scenario of MA, in which not only genic mutation, but also genome unbalances are possible candidate susceptibility factors.

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Section: Introductionmentioning

confidence: 99%

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Sciacca

Rizzo

Bedini

et al. 2018

IJMS

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“…One patient with a coma for 3 days was considered to have metabolic disturbance due to brain MMD. 17,18 After nalmefene (morphine receptor blocker 19 ) was given, the patient recovered to a normal state.…”

Section: Resultsmentioning

confidence: 99%

Endovascular treatment of main trunk aneurysms in the residual anterior circulation in moyamoya disease

Zhou

2022

Neuroradiol J

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Background Main trunk aneurysms in the residual anterior circulation in moyamoya disease (MMD) are uncommon, and in such cases, endovascular treatment (EVT) is a good choice. Materials and methods A retrospective study was performed on 35 consecutive patients admitted to our hospital who were diagnosed with MMD and main trunk aneurysms in the residual anterior circulation and were treated with EVT. Result The 35 patients were aged 38–77 years (mean, 56.1 ± 8.8 years) and included 17 females (48.6%, 17/35). There were 29 cases (82.9%, 29/35) of hemorrhagic onset. In 35 patients, there were 38 main trunk aneurysms in the residual anterior circulation. Thirty-eight aneurysms underwent coiling; among them, coiling with stent assistance was used in the treatment of 6 (15.8%, 6/38) aneurysms. The immediate modified Raymond-Roy classification (MRRC) was grade I for all aneurysms. Among 35 patients, intraoperative bleeding occurred in 2 (5.7%, 2/35) patients. After EVT, immediate hemiplegia occurred in 4 (11.4%, 4/35) patients, and immediate coma occurred in 1 (2.9%, 1/35) patient. At discharge, in 35 patients, the Glasgow Outcome Scale (GOS) was five in 88.6% of them. Of 35 patients, 68.6% had follow-up data, GOS was five in 87.5% patients, and the MRRC was grade I for all aneurysms in the follow-up angiography. Conclusion For main trunk aneurysms in the residual anterior circulation in MMD, although EVT was accompanied by potential ischemic and hemorrhagic complications, which should be considered, EVT can still offer an acceptable prognosis in more than 85% of patients.

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Anesthetic management in a child with moya-moya disease and sickle cell anemia: Case report

Cited by 2 publications

References 9 publications

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Endovascular treatment of main trunk aneurysms in the residual anterior circulation in moyamoya disease

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