Down syndrome with moyamoya disease: A case series

Kumar, Pawan; Panigrahi, Inusha; Sankhyan, Naveen; Ahuja, Chirag; Goyadi, P

doi:10.4103/jpn.jpn_116_17

Cited by 13 publications

(4 citation statements)

References 17 publications

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“…The Ts65Dn mouse model also demonstrates reduced blood pressure and heart rate variability alterations from wild-type mice, suggesting this model could be used to explore mechanistic changes in cardiovascular function across the lifespan in DS [ 151 ]. Moyamoya disease may also occur in people with DS [ 152 ] and contributes to increased stroke risk over the lifespan, particularly with those who have blood pressure in a higher, but normal range [ 153 ].…”

Section: Heart and Vascularmentioning

confidence: 99%

Opportunities, barriers, and recommendations in Down syndrome research

Hendrix¹,

Amon

Abbeduto

et al. 2021

TRD

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BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

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Section: Heart and Vascularmentioning

confidence: 99%

Opportunities, barriers, and recommendations in Down syndrome research

Hendrix¹,

Amon

Abbeduto

et al. 2021

TRD

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“…There is an increasing number of cases of moyamoya arteriopathy seen after infectious etiologies, such as bacterial meningitis and COVID-19, as well as autoimmune conditions, such as Graves' disease and other thyroid dysfunctions [20]. The above findings add to the suggestion that secondary insults such as infectious (COVID-19) or autoimmune etiologies may be associated with Down syndrome, as there is a predisposition toward autoimmune disease in Down patients, which may be necessary for the development of moyamoya arteriopathy [20,22].…”

Section: Ica Stenosismentioning

confidence: 83%

Rapidly Progressive Contralateral Internal Carotid Artery Stenosis After COVID-19 Infection in a Down Syndrome Patient With Unilateral Moyamoya Arteriopathy

Wittenberg,

Ryan,

Hoffman

et al. 2024

Cureus

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Moyamoya arteriopathy is a condition where chronic, progressive stenosis of large intracranial arteries, primarily of the anterior circulation, results in ischemia and the growth of small, abnormal collateral vessels. There is increasing evidence that infectious pathologies, such as COVID-19, may serve as a sort of trigger, or "second hit," for the development of moyamoya arteriopathy. In this article, we present the case of a 13-year-old female with Down syndrome and unilateral moyamoya arteriopathy who developed contralateral internal carotid artery (ICA) dissection and thrombus in the setting of a positive COVID-19 test and subsequently developed rapidly progressive contralateral ICA and bilateral anterior cerebral artery (ACA) moyamoya-like stenosis. The rapidly progressive contralateral ICA and bilateral ACA moyamoya-like stenosis are likely multifactorial in nature. The contralateral ICA may have had a predisposition for injury and stenosis due to the preexisting moyamoya arteriopathy, making stenosis more likely after COVID-19induced vascular inflammation and injury as well as after a possible thrombectomy-associated injury. Based on this presentation, patients with moyamoya arteriopathy may be at risk for rapid progression of their moyamoya pathology when exposed to catalysts, including infection, such as COVID-19, and vascular injury, such as thrombectomy-induced injury. In these circumstances, high suspicion and close monitoring are essential for addressing ischemia related to the stenosis before permanent injury.

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“…Neurofibromatosis type 1 (NF1) 38,80,81 Down syndrome 82,83 Moyamoya 6 with achalasia (GUCY1A3) 84 Sickle cell disease 85 BRCC3/MTCP1 117 Aicardi Goutières syndrome (SAMHD1) [86][87][88] Schimke immuno-osseous dysplasia (SMARCAL1) 89,90 RNF213 33,47,53,91,92 Grange syndrome (YY1AP1) 22 Microcephalic osteodysplastic primordial dwarfism type II (MOPD2) (PCNT) 93 Alagille syndrome (Jagged-1, Notch2) [94][95][96][97][98] Hutchinson-Gilford Progeria syndrome (LAMIN A) 99,100 Sifrim-Hitz-Weiss syndrome (CHD4) 101,102 ACTA2-related multisystem smooth-muscle dysfunction syndrome [103][104][105][106] Myosin heavy chain 11 (MYH11) 107 Williams syndrome 43,108 Fabry disease (GLA) 109 Deficiency of adenosine deaminase 2 (CECR1) 110 Pseudoxanthoma elasticum (ABCC6) 111,112 Marfan syndrome 113 Loeys-Dietz syndrome (SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2) 114 Ehlers-Danlos syndrome classic and vascular type (COL1A1, COL3A1) 115…”

Section: Pediatric Fmd and Other Childhood Systemic Arteriopathiesmentioning

confidence: 99%

Cerebral arteriopathies of childhood and stroke – A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD)

Hausman-Kedem,

Krishnan,

Dlamini

2024

Vasc Med

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Systemic vascular involvement in children with cerebral arteriopathies is increasingly recognized and often highly morbid. Fibromuscular dysplasia (FMD) represents a cerebral arteriopathy with systemic involvement, commonly affecting the renal and carotid arteries. In adults, FMD diagnosis and classification typically relies on angiographic features, like the ‘string-of-beads’ appearance, following exclusion of other diseases. Pediatric FMD (pFMD) is considered equivalent to adult FMD although robust evidence for similarities is lacking. We conducted a comprehensive literature review on pFMD and revealed inherent differences between pediatric and adult-onset FMD across various domains including epidemiology, natural history, histopathophysiology, clinical, and radiological features. Although focal arterial lesions are often described in children with FMD, the radiological appearance of ‘string-of-beads’ is highly nonspecific in children. Furthermore, children predominantly exhibit intimal-type fibroplasia, common in other childhood monogenic arteriopathies. Our findings lend support to the notion that pFMD broadly reflects an undefined heterogenous group of monogenic systemic medium-or-large vessel steno-occlusive arteriopathies rather than a single entity. Recognizing the challenges in categorizing complex morphologies of cerebral arteriopathy using current classifications, we propose a novel term for describing children with cerebral and systemic vascular involvement: ‘cerebral and systemic arteriopathy of childhood’ (CSA-c). This term aims to streamline patient categorization and, when coupled with advanced vascular imaging and high-throughput genomics, will enhance our comprehension of etiology, and accelerate mechanism-targeted therapeutic developments. Lastly, in light of the high morbidity in children with cerebral and systemic arteriopathies, we suggest that investigating for systemic vascular involvement is important in children with cerebral arteriopathies.

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Down syndrome with moyamoya disease: A case series

Cited by 13 publications

References 17 publications

Opportunities, barriers, and recommendations in Down syndrome research

Opportunities, barriers, and recommendations in Down syndrome research

Rapidly Progressive Contralateral Internal Carotid Artery Stenosis After COVID-19 Infection in a Down Syndrome Patient With Unilateral Moyamoya Arteriopathy

Cerebral arteriopathies of childhood and stroke – A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD)

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