Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome

Delaney, Siobhan; O'Connor, G.; Murphy, Stephen J.; Tierney, Sean; Ryan, Barbara; Delaney, Holly; Doherty, Colin P.; Guiney, Michael; Brennan, Paul; Tobin, W. Oliver; McCabe, Dominick J. H.

doi:10.3389/fneur.2018.01194

Cited by 10 publications

(4 citation statements)

References 24 publications

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“…Alagille syndrome (ALGS) or arteriohepatic dysplasia is an autosomal dominant, rare, multisystem disorder caused by mutations in the JAG1 gene, which encodes the ligand Jagged1 in the NOTCH signaling pathway [51]. Although more than 90% of patients carry mutations in the JAG1 gene, mutations in the NOTCH2 gene have been implicated in a small percentage of patients [52].…”

Section: Alagille Syndromementioning

confidence: 99%

Livedo racemosa in neurological diseases: an update on the differential diagnoses

Mitri

Enk

Bersano

et al. 2020

Euro J of Neurology

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Livedo is a net‐like violaceous skin pattern. It can be classified as physiological or pathological. The physiological livedo reticularis usually appears in cold conditions, whereas the pathological and irregular livedo, which persists in warm temperatures, is often labeled as ‘livedo racemosa’. Some neurological pathologies are associated with livedo, most commonly those with an inflammatory component or those derived from systemic disorders. The present review summarizes the most important central and peripheral neurological diseases in pediatric and adult age groups associated with livedo, providing physicians with an overview of the clinical presentation, etiology, diagnosis and management of these conditions.

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Section: Alagille Syndromementioning

confidence: 99%

Livedo racemosa in neurological diseases: an update on the differential diagnoses

Mitri

Enk

Bersano

et al. 2020

Euro J of Neurology

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“…Magnetic resonance angiography (MRA) is not routinely used in diagnostics, but we hope that it may find itself in wider use in future as a non-invasive, alternative method that spares patients the irradiation that comes with imaging methods that rely on the use of x-ray radiation. The realisation of MRA’s full clinical potential requires the continuation of study efforts and further improvements by the way of increased technique efficiency, and better spatial and contrast resolution and artefact suppression [ 30 , 31 , 32 , 33 ].…”

Section: Discussionmentioning

confidence: 99%

Quantitative and Qualitative Characteristics of Atherosclerotic Plaques on Carotid Arteries in Patients with Antiphospholipid Syndrome: The Role of MDCT Angiography

Saponjski,

Stojanovich,

Stanisavljevic

et al. 2023

Diseases

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Introduction: Antiphospholipid syndrome (APS) is an autoimmune disease characterised by arterious and venous thrombosis, miscarriage, and the presence of antiphospholipid antibodies (aPL) in the blood. As we know, APS is also characterised by accelerated atherosclerotic degeneration with an increased risk of thrombosis in all blood vessels, including the carotid arteries. Carotid artery stenosis can manifest in many different ways. The aim of this study is to present the results of our multidetector computerised tomography angiography (MDCTA) analysis of the carotid arteries in patients with primary and secondary APS compared with a control group. Materials and Methods: This study examined 50 patients with primary antiphospholipid syndrome (PAPS) and 50 patients with secondary antiphospholipid syndrome (SAPS). The results were compared with a control group also comprising 50 patients. The groups were analysed with respect to age, sex and the presence of well-established risk factors for vascular disease. The study was conducted using MDCTA, where we analysed the quantitative and qualitative (morphologic) characteristics of carotid artery lesions. Results: Patients from the control group had significantly elevated levels of cholesterol and triglycerides in comparison with patients with PAPS and SAPS (p < 0.001 and p < 0.05). The results show that carotid artery lesions were significantly more common in patients with APS (PAPS, n = 40, CI95: 0.50–0.75, p = 0.0322 and SAFS, n = 54, CI95: 0.59–0.80, p = 0.0004) than within the control group (n = 23). There was a statistically significant difference between patients with APS and the control group with respect to lesions in the distal segments (n = 27, CI95: 0.67–0.95, p = 0.0001), bulbi and proximal segments (n = 21, CI95: 0.84–1.00, p = 0.000005). The number of patients with one lesion (L) (n = 27) was significantly greater than the number of those with three (n = 10, CI95: 0.56–0.86, p = 0.0051) or four (n = 3, CI95: 0.73–0.98, p = 0.00001) lesions. There were also more patients with two lesions (n = 24) than those with four (n = 3) (CI95: 0.71–0.97, p = 0.00005). Carotid artery stenosis was shown as a percentage of the carotid artery lumen diameter (%DS). Stenosis of up to 30%, was more common in patients in the PAPS group (n = 12) than in the control group (n = 3) (CI95: 0.52–0.96, p = 0.0201), while the SAPS group (n = 17) had an even larger disparity (CI95: 0.62–0.97, p = 0.0017). We observed a highly significant difference in the frequency of stenoses between 30% and 50% DS between the PAPS group (n = 24) and the control group (n = 7) (CI95: 0.59–0.90, p = 0.0023), as well as the SAPS group (n = 30) (CI95: 0.65–0.92, p = 0.0002). A qualitative analysis of plaque morphology revealed that patients with PAPS had significantly more soft tissue lesions (n = 23) compared with calcified lesions (n = 2) (CI95: 0.74–0.99, p = 0.00003), as well as more mixed plaques (n = 9) and calcified plaques (n = 2) (CI95: 0.48–0.98, p = 0.0348). Patients within the SAPS group had significantly more soft tissue (n = 35) than calcified lesions (n = 3) (CI95: 0.79–0.98, p = 0.00000021), as well as more mixed lesions (n = 21) compared with calcified (n = 3) (CI95: 0.68–0.97, p = 0.0002). Conclusions: Our study shows that subclinical manifestations of carotid artery lesions were more common in patients with APS. We came to the conclusion that MDCTA is an accurate diagnostic method because it is a safe method that provides us with a great quantity of accurate information about the characteristics of atheromatous plaques, which aids us in the further planning of treatment for patients with APS.

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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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Extracranial and Intracranial Vasculopathy With “Moyamoya Phenomenon” in Association With Alagille Syndrome

Cited by 10 publications

References 24 publications

Livedo racemosa in neurological diseases: an update on the differential diagnoses

Livedo racemosa in neurological diseases: an update on the differential diagnoses

Quantitative and Qualitative Characteristics of Atherosclerotic Plaques on Carotid Arteries in Patients with Antiphospholipid Syndrome: The Role of MDCT Angiography

Western Moyamoya Phenotype: A Scoping Review

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