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Moyamoya disease and syndrome

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https://www.readbyqxmd.com/read/28520567/persistent-hypotension-and-cerebral-swelling-resulting-from-mesenteric-traction-syndrome-after-omental-to-pial-pedicle-flap-transfer-in-a-young-woman-with-refractory-moyamoya-disease-a-case-report
#1
Harvey J Woehlck, Suneeta Gollapudy, Christopher J Roberts, Akinwunmi Oni-Orisan, Raphael H Sacho, Paul S Pagel
Superficial temporal arterial to middle cerebral arterial anastomosis is often the initial surgical treatment of Moyamoya disease. In refractory cases, placing a pedicle flap of omentum over the ischemic brain has resulted in clinical improvement or stabilization of symptoms. We present a case of persistent mesenteric traction syndrome manifested by hypotension unresponsive to conventional doses of vasopressors during and after pulling the omentum to the brain. As prostacyclin is a major mediator of hypotension from mesenteric traction syndrome and also a cerebral vasodilator, we discuss the possibility that brain swelling may be a manifestation of mesenteric traction syndrome...
May 17, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28516875/reply-to-moyamoya-disease-and-systemic-sclerosis-mosys-syndrome-a-combination-of-two-rare-entities-comment-to-the-authors
#2
Franz Wegner, Ulf Mueller-Ladner, Florian M P Meier
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April 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28498060/correlation-between-reduction-in-microvascular-transit-time-after-superficial-temporal-artery-middle-cerebral-artery-bypass-surgery-for-moyamoya-disease-and-the-development-of-postoperative-hyperperfusion-syndrome
#3
Tao Yang, Yoshifumi Higashino, Hiroharu Kataoka, Eika Hamano, Daisuke Maruyama, Koji Iihara, Jun C Takahashi
OBJECTIVE Hyperperfusion syndrome (HPS) is a notable complication that causes various neurological symptoms after superficial temporal artery (STA)-middle cerebral artery (MCA) bypass surgery for moyamoya disease (MMD). The authors used intraoperative indocyanine green (ICG) videoangiography to measure the change in microvascular transit time (MVTT) after bypass surgery. An analysis was then conducted to identify the correlation between change in MVTT and presence of postoperative HPS. METHODS This study included 105 hemispheres of 81 patients with MMD who underwent STA-MCA single bypass surgery between January 2010 and January 2015...
May 12, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28475226/molecular-cytogenetic-characterization-of-five-f8-complex-rearrangements-utility-for-haemophilia-a-genetic-counselling
#4
Y Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA)...
May 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28436815/moyamoya-in-a-patient-with-fires-a-first-case-report
#5
Taylor Kaufman, Andrew White
Febrile infection-related epilepsy syndrome (FIRES) is a form of epileptic encephalopathy with severe refractory epilepsy that presents in previously healthy, school-aged children after significant febrile illness with concomitant rise in body temperature. Suspected causes include genetic or acquired channelopathies, as well as mitochondrial disturbances. In FIRES, the EEG shows diffuse slowing, generalized, and/or multifocal discharges. Seizures are present and resistant to treatment. Moyamoya angiopathy (MMA) is characterized by progressive stenosis of cerebral arteries and subsequent development of a network of collateral circulation that is prone to rupture...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28431773/atypical-moyamoya-syndrome-with-brain-calcification-and-stenosis-of-abdominal-aorta-and-renal-arteries
#6
Hideki Uchikawa, Katsunori Fujii, Mayuko Fujita, Tomoko Okunushi, Naoki Shimojo
Moyamoya syndrome is a progressive cerebrovascular disease that is characterized by stenosis of the terminal portion of the internal carotid artery and its main branches, in combination with an accompanying disease. We herein describe an 8-year-old boy exhibiting transient loss of consciousness, who had recurrent seizures in infancy with progressive brain calcification. On admission, he was alert but magnetic resonance angiography showed bilateral stenosis of the whole internal carotid artery and proliferation of vascular collaterals, and brain CT revealed calcification on bilateral putamen...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28357585/uneven-cerebral-hemodynamic-change-as-a-cause-of-neurological-deterioration-in-the-acute-stage-after-direct-revascularization-for-moyamoya-disease-cerebral-hyperperfusion-and-remote-ischemia-caused-by-the-watershed-shift
#7
Xian-Kun Tu, Miki Fujimura, Sherif Rashad, Shunji Mugikura, Hiroyuki Sakata, Kuniyasu Niizuma, Teiji Tominaga
Superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis is the standard surgical treatment for moyamoya disease (MMD). The main potential complications of this treatment are cerebral hyperperfusion (CHP) syndrome and ischemia, and their managements are contradictory to each other. We retrospectively investigated the incidence of the simultaneous manifestation of CHP and infarction after surgery for MMD. Of the 162 consecutive direct revascularization surgeries performed for MMD, we encountered two adult cases (1...
March 29, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#8
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome...
March 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28289923/tocilizumab-reverses-cerebral-vasculopathy-in-a-patient-with-homozygous-samhd1-mutation
#9
REVIEW
Michael Henrickson, Heng Wang
An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression...
March 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28240586/moyamoya-disease-and-systemic-sclerosis-mosys-syndrome-a-combination-of-two-rare-entities-comment-to-the-authors
#10
Ellen De Langhe, Jan Lenaerts, Philippe Demaerel, Robin Lemmens
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February 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28238458/increased-levels-of-anti-phosphatidylcholine-and-anti-phosphatidylethanolamine-antibodies-in-pediatric-patients-with-cerebral-infarction
#11
Seigo Korematsu, Hiroshi Yamada, Hiroaki Miyahara, Kenji Ihara
Cerebral infarction in children is rare and often occurs secondary to moyamoya disease, hereditary coagulopathies, vasculitis, antiphospholipid antibody syndrome, heart disease, mitochondrial disease. However, in some cases, the causes of cerebral infarction is unknown. In this study, we detected increased levels of serum anti-phosphatidylcholine and anti-phosphatidylethanolamine IgG antibodies in three pediatric patients with cerebral infarction whose primary disorders are unknown by routine examination. For the five disease control patients of cerebral infarction due to other primary disorders, there was no such increase in these antibodies levels...
June 2017: Brain & Development
https://www.readbyqxmd.com/read/28237043/tuberous-sclerosis-complex-and-polycystic-kidney-disease-contiguous-gene-syndrome-with-moyamoya-disease
#12
Jonathan Lai, Lopa Modi, Daryl Ramai, Matthew Tortora
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses...
April 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28175446/198%C3%A2-effectiveness-of-surgical-revascularization-for-stroke-prevention-in-pediatric-patients-with-sickle-cell-disease-and-moyamoya-syndrome
#13
Wuyang Yang, Jose Luis Porras, Risheng Xu, Tomas Garzon-Muvdi, Justin M Caplan, Geoffrey P Colby, Alexander Lewis Coon, Rafael J Tamargo, Judy Huang, Edward Sanghoon Ahn
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28157751/inherited-and-uncommon-causes-of-stroke
#14
REVIEW
Jennifer Juhl Majersik
PURPOSE OF REVIEW: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. RECENT FINDINGS: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28153617/the-susceptibility-pathogenesis-of-the-moyamoya-disease
#15
Juntao Hu, Jie Luo, Qianxue Chen
Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches. Epidemiologically, MMD is more prevalent in east Asia than any region worldwide, which have been estimated at 0.94 per 100 000 in Japanese and 0.43 per 100,000 in Chinese.However, the etiology of this rare disease remains unknown. Regarding biomarkers of moyamoya disease, moyamoya disease is characterized by an increased expression of angiogenic factors and pro-inflammatory molecules such as vascular endothelial growth factors and matrix metalloproteinase-9, which may partly explain its clinical manifestations of the pathologic angiogenesis, spontaneous hemorrhage, and higher incidence of cerebral hyperperfusion after revascularization surgery...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28070115/proposal-for-a-prospective-registry-for-moyamoya-disease-in-japan
#16
Ken Kazumata, Masaki Ito, Haruto Uchino, Hiroshi Nishihara, Kiyohiro Houkin
The number of clinical research papers published worldwide on moyamoya disease (MMD) has increased recently. However, the majority of the literature comprises retrospective single-center studies collecting data on small numbers of patients. Several multi-center studies are ongoing in Japan; however, the current data are insufficient for comprehensively outlining the various characteristics of MMD. To enhance our knowledge on epidemiologic, vascular, and genetic aspects of MMD, a prospective multicenter registry will be established in Japan that will help to streamline clinical research as well as improve clinical treatments and long-term outcomes...
February 15, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28033272/intraoperative-dexmedetomidine-and-postoperative-cerebral-hyperperfusion-syndrome-in-patients-who-underwent-superficial-temporal-artery-middle-cerebral-artery-anastomosis-for-moyamoya-disease-a-retrospective-observational-study
#17
Hyungseok Seo, Ho-Geol Ryu, Je Do Son, Jeong-Soo Kim, Eun Jin Ha, Jeong-Eun Kim, Hee-Pyoung Park
Dexmedetomidine, a selective α2-agonist, reduces cerebral blood flow and has neuroprotective effects against cerebral ischemia/reperfusion injury in experimental animals. We examined whether intraoperative dexmedetomidine would reduce the incidence of postoperative cerebral hyperperfusion syndrome (CHS) after superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with moyamoya disease.The electronic medical records of 117 moyamoya patients who underwent STA-MCA anastomosis were reviewed retrospectively...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27960175/moyamoya-disease
#18
REVIEW
Miki Fujimura, Oh Young Bang, Jong S Kim
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is unknown, recent genetic studies have identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. A c.14576G>A polymorphism in RNF213 was identified in 95% of MMD patients with a family history and in 79% of sporadic cases, and patients carrying this polymorphism exhibited significantly earlier disease onset and a more-severe form of MMD...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27960158/risk-factors
#19
REVIEW
T Uehara, O Y Bang, J S Kim, K Minematsu, R Sacco
Studies investigating risk factors for intracranial atherosclerosis (ICAS) have been infrequent. However, due to recent availability of non-invasive vascular imaging techniques that can assess intracranial cerebral arteries, there are a growing number of studies on risk factors for ICAS. Conventional vascular risk factors such as hypertension, diabetes, hypercholesterolemia and cigarette smoking are risk factors for ICAS. However, it remains uncertain whether there is a difference in risk factors between ICAS and extracranial atherosclerosis (ECAS)...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27934593/establishment-of-induced-pluripotent-stem-cell-ipsc-line-from-an-8-year-old-female-patient-with-ischemic-moyamoya-disease
#20
Marina Cardano, Fabio Marsoner, Jacopo Zasso, Matteo Marcatili, Thodoris Karnavas, Luigi Andrea Lanterna, Luciano Conti
Peripheral blood mononuclear cells (PBMCs) were collected from an 8-year old female patient affected by ischemic Moyamoya disease (MMD). Patient's PBMCs were reprogrammed using Sendai virus particles delivering the four Yamanaka factors. The footprint free hiPSC line expressed the major pluripotency markers and exhibited a normal karyotype. Cells were competent to give rise to progeny of differentiated cells belonging to the 3 germ layers. This hiPSC line represents a good tool to in vitro model MMD in order to shed light on the cellular and molecular mechanisms responsible for the occurrence of this syndrome...
November 5, 2016: Stem Cell Research
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