Moyamoya in a Patient with Smith-Magenis Syndrome

Freeman, Jacob; Deleyiannis, Frederic W.‐B.; Bernard, Timothy J.; Fenton, Laura Z.; Somme, Steig; Wilkinson, C Corbett

doi:10.1159/000459627

Cited by 2 publications

(3 citation statements)

References 36 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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“…Alagille syndrome [93,97,99], Turner syndrome [94], Behcet's disease [95], Sneddon's syndrome [96], Smith-Magenis syndrome [98], FIRES [101], PHACE syndrome [102], VACTERL association [103], Morning Glory syndrome [104], May-Hegglin anomaly [105], and mesial temporal sclerosis syndrome [106,107].…”

Section: Disease Associationsmentioning

confidence: 99%

“…We found 19 (17%) papers that described an association between moyamoya and rare syndromes, including oculoectodermal syndrome [ 89 ], Down syndrome [ 90 , 100 ], Noonan syndrome [ 91 ], Leigh syndrome [ 92 ], Alagille syndrome [ 93 , 97 , 99 ], Turner syndrome [ 94 ], Behcet’s disease [ 95 ], Sneddon’s syndrome [ 96 ], Smith-Magenis syndrome [ 98 ], FIRES [ 101 ], PHACE syndrome [ 102 ], VACTERL association [ 103 ], Morning Glory syndrome [ 104 ], May-Hegglin anomaly [ 105 ], and mesial temporal sclerosis syndrome [ 106 , 107 ].…”

Section: Reviewmentioning

confidence: 99%

Western Moyamoya Phenotype: A Scoping Review

Miller¹,

Unda²,

Holland³

et al. 2021

Cureus

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Moyamoya, a rare angiographic finding, is characterized by chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Coined by Suzuki and Takaku in 1969, the term “moyamoya” means a “puff of smoke” in Japanese, a reference to the angiographic appearance of moyamoya collateralization. Moyamoya is most commonly found in East Asian countries, where much governmental and civilian effort has been expended to characterize this unique disease process. However, despite its rarity, the occurrence of moyamoya in Western countries is associated with significant divergence regarding incidence, gender, sex, age at diagnosis, clinical presentation, and outcomes. Here, we attempted to review the Western literature on moyamoya presentation using the PubMed database to characterize the Western phenotype of moyamoya. We were guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR). We reviewed papers generated from a search with keywords “moyamoya case report,” those reported from a Western institution, and those reported on a relevant association. Our scoping review demonstrated various clinical associations with moyamoya. Moreover, we summarized the demographic profile and clinical symptomatology, as well as reported disease associations to better elucidate the Western phenotype of moyamoya.

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Moyamoya in a Patient with Smith-Magenis Syndrome

Cited by 2 publications

References 36 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

Western Moyamoya Phenotype: A Scoping Review

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