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Syndromic Moyamoya Disease

MYMY4


Presentation

  • The book also presents the most advanced techniques and strategies for disease-specific treatment. Important legal/ethical issues and the role of caregivers in treating dementia patients are also covered.[books.google.com]
  • Early chapters present differential diagnosis and management approaches to common overarching problems such as coma, headache, and elevated intracranial pressure, followed by chapters focusing on the evaluation and management of specific conditions including[books.google.com]
  • More common in adults. [ Singhi, 2012 ] Epileptic Type May be initial presentation or recurrent in patient with known Moyamoya Seizures on presentation rates vary: 34% in [ Singhi, 2012 ]; 19% in [ Kim, 2010 ] Surgery shown to help reduce recurrent seizure[pedemmorsels.com]
  • His symptoms at the time of presentation included episodic confusion, worsening vision and an unsteady gait.[the-rheumatologist.org]
  • Inchildren the commoner mode of presentation is hemorrhage (79% of pediatriccases present with hemorrhage), AVMs also presents with seizures, hemorrhage,focal neurological deficit or atypical chronic headache, high-output heartfailure in infants.[childneurosurgeon.com]
Short Stature
  • OMIM : 57 This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism.[malacards.org]
  • The patient was also noted to be macrocephalic and of short stature with unspecified developmental delays. Treatment consists of prophylactic factor VIII of 20 U/kg three times a week and 10 mg lisinopril daily for hypertension.[captodayonline.com]
  • The diagnosis of this disease in our short-statured patient was surprising, considering the fact that so far only a few cases of coexistence of endocrinopathy and moyamoya disease have been reported 4-7 .[hormones.gr]
  • See also MYMY4 (300845), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. and linked to q25.3, on chromosome 17".[gavinpublishers.com]
  • Article / Publication Details First-Page Preview Abstract Noonan’s syndrome is a multiple congenital anomaly syndrome with characteristic facial features, short stature, congenital heart defects and a recently reported association with moyamoya disease[karger.com]
Low Set Ears
  • Affiliated tissues include brain and eye , and related phenotypes are hypertelorism and low-set ears[malacards.org]
Premature Graying of the Hair
  • Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts.[malacards.org]
Premature Graying of the Hair
  • Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts.[malacards.org]
Apraxia
  • […] extinguished electroretinogram/AR/-/%243910 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME/Cataracts, Glaucoma, Strabismus/XLR/-/%300261 ARTS SYNDROME (MENTAL RETARDATION, X-LINKED, SYNDROMIC 18)/Optic atrophy, nystagmus/XLR/PRPS1/#301835 ATAXIA-OCULOMOTOR APRAXIA[eyewiki.org]
Mental Deterioration
  • This fact seems to be crucial since mental deterioration is considered to be an indicator of progression of the disease and a possible indication for surgical intervention 10 .[hormones.gr]

Workup

  • Further workup included the following studies: immunoglobulin levels, complement levels, and cerebrospinal fluid (CSF) analysis for antibodies. All studies were negative.[the-rheumatologist.org]
  • Further clinical workup revealed mild facial dysmorphia, hypertension, osteopenia, and duplication of the right renal artery, a phenotype likely caused by a genetic aberration.[bloodjournal.org]
  • (See Workup.) Blood vessel walls consist of 3 layers: the intima is the innermost layer; the media is a muscular middle layer; and the adventitia is the outermost layer.[emedicine.medscape.com]
  • Given the complicated clinical picture for the patient involving both hemophilia and Moyamoya disease, he was counseled and consented to a genetic workup to identify any underlying genetic cause.[captodayonline.com]

Treatment

  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • It examines the differential neuropathological and pathophysiological bases of these dementias and emphasizes their behavioral and cognitive aspects in assessment, diagnosis, and treatment.[books.google.com]
  • Access the comprehensive, expert clinical guidance you need to recognize the clinical manifestations of stroke, use the latest laboratory and imaging studies to arrive at a diagnosis, and generate an effective medical and surgical treatment plan.[books.google.com]
  • Coverage of new, emerging, or controversial topics includes developmental encephalopathies, non-verbal learning disorders, and the pharmacological and future genetic treatment of neurodevelopmental disabilities.[books.google.com]

Prognosis

  • Prognosis Surgery improves the prognosis for patients presenting with cerebral ischaemia. However, for patients presenting with haemorrhage, the prognosis is poor. Progressive neurological deterioration and disability occur.[patient.info]
  • In order to assess the prevalence, natural history, prognosis and tumor incidence, we conducted a nationwide prevalence study of patients with Costello and CFC syndromes in Japan.[rasopathiesnet.org]
  • The outcome of the disease depends on the severity and nature of the hemorrhage; the prognosis depends on recurrent attacks. Mortality rates from moyamoya disease are approximately 10% in adults and 4.3% in children.[emedicine.medscape.com]
  • Rebleeding occurs in 28% of pediatric AVMsand is associated with a poorer prognosis. The mortality rate with rebleedingis 25%, regardless of treatment method.[childneurosurgeon.com]
  • […] enhanced MRI) 3 multiple foci of microbleeds and also prominent deep medullary veins " brush sign " on susceptibility sequences 7 transdural branches of the middle meningeal and other dural branches Staging See: moyamoya staging (Suzuki) Treatment and prognosis[radiopaedia.org]

Etiology

  • […] intracranial arteriopathy of unknown etiology affecting adults and children.[stroke.ahajournals.org]
  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • Total cholesterol, triglyceride, lipid electrophoresis, creatin phosphokinase levels were measured during laboratory tests carried out for stroke etiology and the results were determined to be normal.[jpma.org.pk]
  • Burnside , Sarah Milla , John Pappas Abstract A 7-year-old white girl presented with left hemiparesis and ischemic stroke secondary to moyamoya syndrome, a progressive cerebrovascular occlusive disorder of uncertain but likely multifactorial etiology.[pediatrics.aappublications.org]
  • (See Etiology.) Schematic representation of the circle of Willis, arteries of the brain, and brain stem.[emedicine.medscape.com]

Epidemiology

  • This is the first epidemiological study of both disorders.[rasopathiesnet.org]
  • We present a clinic-epidemiological study of two patients and meta-analysis (period 1977-2000 ) of the co-morbidity of the Down syndrome (DS) and moyamoya syndrome (MMS).[scielo.br]
  • Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis. J Stroke . 2016 Jan. 18 (1):2-11. [Medline] . Kronenburg A, van den Berg E, van Schooneveld MM, et al.[emedicine.medscape.com]
  • This could be developed as a diagnostic test in the future. [ 3 ] Epidemiology Moyamoya disease (MMD) is a rare condition, although asymptomatic patients may remain undetected.[patient.info]
  • Baba T, Houkin K, Kuroda S: Novel epidemiological features of moyamoya disease. J Neurol Neurosurg Psychiatry. 2008; 79 ( 8 ):900–4. 10.1136/jnnp.2007.130666 [ PubMed ] [ CrossRef ] [ Google Scholar ] 10.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke.[books.google.com]
  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • It examines the differential neuropathological and pathophysiological bases of these dementias and emphasizes their behavioral and cognitive aspects in assessment, diagnosis, and treatment.[books.google.com]
  • Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies.[dovepress.com]
  • The pathophysiological mechanisms of this condition, which leads to ischemic and hemorrhagic stroke, remain unknown.[biblio.ugent.be]

Prevention

  • Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more.[books.google.com]
  • Stroke Syndrome Treatment and Stroke Prevention Certain conditions that increase your risk of stroke can be managed with a combination of lifestyle changes and medication.[medstargeorgetown.org]
  • , although infrequent, is a disease with high comorbidity, stroke and vascular malformations by endothelial deformity are major and catastrophic complications in patients with sickle cell disease, which is why proper monitoring of these patients can prevent[scielo.org.co]
  • In addition to expert and compassionate care from multidisciplinary teams throughout the medical center, patients of Washington University neurologists have access to some of the most innovative clinical trials centered on understanding, treating and preventing[neuro.wustl.edu]
  • Aim of surgical treatment to have revascularisationis prevent stroke & preserve cognition. Indication for surgery is 1. Occlusive cerebralarteriopathy, 2. Symptomatic cerebral ischemia/cognitivearrest or 3.[childneurosurgeon.com]

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