GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy

Attempt to establish an experimental animal model of moyamoya disease using immuno-embolic material--histological changes of the arterial wall resulting from immunological reaction in cats.

In this study, we investigated the relationship between intimal thickening of the internal carotid artery (ICA) and immunological reaction, and between occlusion of the ICA and development of basal collateral vessels in moyamoya disease. Rod-shaped lactic acid-glycolic acid copolymer (LGA-50) and N-acetylmuramyl-L-alanyl-D-isoglutamine (muramyl dipeptide: MDP), and immuno-embolic material, were injected into cats unilaterally via the common carotid artery. Histological changes of duplication of the internal elastic lamina could be seen mainly in the terminal portion of the ICA in the animals injected with rod-shaped LGA-50 containing MDP. No angiographic changes were seen in any of the animals. These findings suggest that the immunological reaction induced by MDP caused histological changes in the intima of the ICA similar to those observed in moyamoya disease. This experimental study, however, could not clarify the development of the basal collateral vessels.</p

Focal Spot, Summer/Fall 2006

https://digitalcommons.wustl.edu/focal_spot_archives/1103/thumbnail.jp

Clinical and radiological recurrence after childhood arterial ischemic stroke

Background: Data on rates and risk factors for clinical and radiological recurrence of childhood arterial ischemic stroke (AIS) might inform secondary prevention strategies. Methods and Results: Consecutive Great Ormond Street Hospital patients with first AIS were identified retrospectively (1978–1990) and prospectively (1990–2000). Patients underwent repeat neuroimaging at the time of clinical recurrence or, if asymptomatic, at least 1 year after AIS. Cox and logistic regression analyses were used to explore the relationships between risk factors and clinical and radiological recurrence, respectively. A total of 212 patients were identified, of whom 97 had another prior diagnosis. Seventy-nine children had a clinical recurrence (29 strokes, 46 transient ischemic attacks [TIAs], 4 deaths with reinfarction 1 day to 11.5 years (median 267 days) later); after 5 years, 59% (95% confidence interval, 51% to 67%) were recurrence free. Moyamoya on angiography and low birth weight were independently associated with clinical recurrence in the whole group. Genetic thrombophilia was associated with clinical recurrence in previously healthy patients, independent of the presence of moyamoya. Sixty of 179 patients who had repeat neuroimaging had radiological reinfarction, which was clinically silent in 20. Previous TIA, bilateral infarction, prior diagnosis (specifically immunodeficiency), and leukocytosis were independently associated with reinfarction. Previous TIA and leukocytosis were also independently associated with clinically silent reinfarction. Conclusions: Clinical and radiological recurrence are common after childhood AIS. The risk of clinical recurrence is increased in children with moyamoya and, in previously healthy patients, in those with genetic thrombophilia. Preexisting pathology, including immunodeficiency, and persistent leukocytosis are risk factors for radiological recurrence, which suggests a potential role for chronic infection

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs

Intermittent Hemiplegia in a Boy with Primary Moyamoya Disease: A Case Report from Iran

How to Cite This Article: Bidaki R, Zarepur E. Intermittent Hemiplegia in A Boy With Primary Moyamoya Disease; A Case Report from Iran. Iran J Child Neurol. Spring 2017; 11(2):65-68. AbstractMoyamoya is a rare chronic progressive occlusive cerebrovascular disease. Its manifestation varies from stroke, progressive learning impairment and transient ischemic attack to headache and seizure. There is no accepted medical treatment and surgery usually, is needed. We report here a case of 8 yr old boy referred to psychiatrist outpatient. An eight yr old boy with intermittent hemiplegia was brought to Imam Ali Clinic, Yazd, Iran in 2015 because his headache and medical problem began from 6 yr old. Stress and excitement exacerbated his condition. His first attack was at the age of 6 yr old. During attack, he had incontinence, severe headache, alogia, pallor, claudication and left hemiplegia (Left lower limb). Magnetic resonance angiography (MRA) was done and our diagnosis was moyamoya disease. Moyamoya is a mysterious disease and psychiatrists should consider it in differential diagnosis of alogia and plegia. Acute management of this disease is mainly symptomatic. Nowadays, surgery is a good choice and early diagnosis of this disease can change our patient’s life. References 1. Hallemeier CL, Rich KM, Grubb RL, Chicoine MR, Moran CJ, Cross DT, et al. Clinical features and outcome in North American adults with moyamoya phenomenon. Stroke 2006;37(6):1490-6.2. Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 1969;20(3):288-99.3. Wakai K, Tamakoshi A, Ikezaki K, Fukui M, Kawamura T, Aoki R, et al. Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey. Clin Neurol Neurosurg 1997;99 Suppl 2:S1-5.4. Duan L, Bao XY, Yang WZ, Shi WC, Li DS, Zhang ZS, et al. Moyamoya disease in China: its clinical features and outcomes. Stroke 2012;43(1):56-60.5. Im SH, Cho CB, Joo WI, Chough CK, Park HK, Lee KJ, et al. Prevalence and epidemiological features of moyamoya disease in Korea. J Cerebrovasc Endovasc Neurosurg 2012;14(2):75-8.6. Lutterman J, Scott M, Nass R, Geva T. Moyamoya syndrome associated with congenital heart disease. Pediatrics 1998;101(1 Pt 1):57-60.7. Peerless SJ. Risk factors of moyamoya disease in Canada and the USA. Clin Neurol Neurosurg 1997;99 Suppl 2:S45-8.8. Abuzayed B, Khreisat W, Maaiah W, Agailat S. Supratentorial primitive neuroectodermal tumor presenting with intracranial hemorrhage in adult. J Neurosci Rural Pract 2014;5(2):176-9.9. Yamauchi T, Houkin K, Tada M, Abe H. Familial occurrence of moyamoya disease. Clin Neurol Neurosurg 1997;99 Suppl 2:S162-7.10. Kim JS. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. J Stroke 2016;18(1):2-11.11. Smith ER, Scott RM. Surgical management of moyamoya syndrome. Skull Base 2005;15(1):15-26.12. Yamada I, Suzuki S, Matsushima Y. Moyamoya disease: comparison of assessment with MR angiography and MR imaging versus conventional angiography. Radiology 1995;196(1):211-8.13. Nakakita K, Tanaka S, Fukuda A, Fujii C, Kohama A, Miyasato H. [Nontraumatic acute subdural hematoma caused by the rupture of transdural anastomotic vessels in moyamoya disease]. No Shinkei Geka 1994;22(6):561-5.14. Mughal DK, Nissirios KS, Puri MR. A 30-Year-Old Female with Moyamoya Disease and Associated Depression. Psychiatr Ann 2014;44(12):549-551.15. Kim T, Oh CW, Bang JS, Kim JE, Cho WS. Moyamoya Disease: Treatment and Outcomes. J Stroke 2016;18(1):21-30.

A Case of Moyamoya Disease in a Girl with Thyrotoxicosis

Moyamoya disease is a cerebrovascular disorder of unknown cause, characterized by slowly progressive bilateral stenosis or occlusion of the internal carotid arteries and produces collateral vessels. Moyamoya syndrome has rarely been reported in association with Graves' disease, especially in children. Several reports suggest that a cerebral infarction might have occurred in patients with clinical and laboratory evidence of hyperthyroid function. We report a case of Moyamoya disease in a girl with Down syndrome and thyrotoxicosis, and we review the relevant literature. To our best knowledge, this is the first report of Moyamoya disease associated with thyrotoxicosis in a young person in Korea

Unilateral moyamoya disease with co-existing arteriovenous malformation

A case of an intracerebral bleed in a young man with a rare combination of arteriovenous malformation (AVM) and unilateral moyamoya disease is presented. The location of the bleed in the left basal ganglia corresponded to the area supplied by the basal moyamoya vessels. The AVM which received supply from collateral moyamoya vessels as well as normal cerebral arteries was located in the ipsilateral parieto-occipital region posterior to the basal ganglia bleed. This is the first reported cerebral AVM co-existing with a unilateral moyamoya disease in the English literature. Unusual features of the case such as the unilaterality of the angiographic abnormalities, their coexistence and hypotheses as to their development are discussed

Bilateral Moyamoya Disease in a 2-Year-Old Pakistani Male Treated with Bilateral Encephaloduroarteriosynangiosis: A Positive Outcome.

Background. We present a rare case of bilateral moyamoya disease presenting as multiple strokes and neurological deficits, treated with the neurosurgical procedure, encephaloduroarteriosynangiosis (EDAS), in a 2-year-old male Pakistani minor. A positive outcome was achieved and the patient recovered fully. Case Summary. Our patient presented with a history of seizures and multiple episodes of hemiparesis (on and off weakness) at the age of 2 years. He had a delayed speech development and could not speak more than a few words. He had a slight slurring of speech too. He was diagnosed with bilateral moyamoya disease on Computed Tomography Angiography (CTA). Bilateral EDAS was done in the same year, after which his symptoms improved and patient had moderate functional recovery. Conclusion. A rare disease, moyamoya has been left unexplored in Pakistan; physicians and surgeons when dealing with cases in the pediatric population presenting with symptoms of stroke, signs of generalized weakness, and seizures should consider moyamoya disease as a possibility. Furthermore, this case demonstrates the effectiveness of EDAS procedure for the treatment of moyamoya disease