Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena

Khan, Mohsin Ali; Novakovic, Roberta; Rosengart, Axel J.

doi:10.1001/archneur.63.11.1653

Cited by 3 publications

(3 citation statements)

References 3 publications

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“…In a literature review twelve cases of NF1 and moyamoya disease with neurological presentations were described [1]. Five such cases presented with intraventricular haemorrhage similar to our patient [6-10]. One case presented with an ischaemic stroke.…”

Section: Discussionmentioning

confidence: 55%

An unusual cause of subarachnoid haemorrhage in a patient with newly diagnosed neurofibromatosis: a case report

Weerasinghe

Jesudason

Peckham

2009

Cases J

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IntroductionIn this report we discuss an unusual cause of subarachnoid haemorrhage in association with neurofibromatosis.Case presentationA previously fit 55-year-old man developed sudden onset headache with loss of consciousness. He was comatose on admission with no focal neurological signs. Numerous neurofibromas and café-au-lait patches were noted, indicating neurofibromatosis type 1 which had not been previously diagnosed. Computer Tomography brain revealed a grade IV subarachnoid haemorrhage in association with numerous vascular lesions on cerebral angiography.ConclusionA rare cause of subarachnoid haemorrhages was identified and is discussed in detail.

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Section: Discussionmentioning

confidence: 55%

An unusual cause of subarachnoid haemorrhage in a patient with newly diagnosed neurofibromatosis: a case report

Weerasinghe

Jesudason

Peckham

2009

Cases J

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“…Here we have described a single-center cohort of pediatric patients with moyamoya angiopathy. Case reports have detailed many of the same associated diseases we have described: polycystic kidney disease, 20,21 Down syndrome, 22,23 neurofibromatosis type 1, [24][25][26] beta thalassemia, 27 sickle cell disease, 28,29 rheumatoid arthritis, 30 diabetes type 1, Schimke immuno-osseous dysplasia, and congenital heart disease. 31 However, our series adds some additional disorders to this possible association with moyamoya angiopathy.…”

Section: Discussionmentioning

confidence: 97%

Clinical Characteristics of Moyamoya Angiopathy in a Pediatric Cohort

et al. 2020

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Moyamoya angiopathy is a rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels. Children with moyamoya angiopathy become symptomatic because of cerebral ischemic complications, and many patients eventually need revascularization. In most pediatric patients with this disease, the etiology is likely genetic. We aim to report clinical characteristics of a single-center cohort of pediatric patients with moyamoya. We performed a retrospective chart review of patients <18 years with angiographically confirmed moyamoya disease evaluated at our institution. An in-house text search tool, Advanced Cohort Explorer, was used to filter electronic medical records for patients with a diagnosis of moyamoya angiopathy from January 1999 to December 2018. The inclusion criteria were age <18 years at the time of onset of disease and a diagnosis confirmed at Mayo clinic. Fifty-one patients met the inclusion criteria. Fifty-five percent of our cohort were male, and the median age was 9 years. Three patients had a family history of moyamoya disease. Approximately half of our patients had bilateral disease. Sixteen patients had a genetic or chromosomal diagnosis (Down syndrome and NF1 being most common). Congenital anomalies like heart defects and renal dysplasia were also noted. This study is unique in that it was a large study on pediatric patients with moyamoya angiopathy. It also highlights the importance of considering genetic syndromes as an underlying cause when moyamoya angiopathy starts early in life.

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“…Those with no known risk factors for the characteristic vasculopathy are said to have Moyamoya disease, while those with well-recognized associated conditions to account for the cerebrovasculopathy are classified as having Moyamoya syndrome. The etiology of Moyamoya syndrome is largely unknown, however, some conditions associated with Moyamoya syndrome include neurofibromatosis type 1, down syndrome, and polycystic kidney disease [2]. Some known risk factors for developing Moyamoya include Asian ancestry, radiation therapy to head or neck, down syndrome, and sickle cell anemia.…”

Section: Introductionmentioning

confidence: 99%

Moyamoya Syndrome in a Child with Neurofibromatosis Type 1: Magnetic Resonance Imaging as a Tool for Clinical Decision Making

Mayl

Patel

Chandra³

2017

Cureus

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Moyamoya syndrome is a rare cerebrovasculopathy of unknown etiology which is associated with multiple risk factors. Moyamoya was first discovered in Japan and is reported to have an increased prevalence in the Japanese population. The term “Moyamoya” translates into “puff of smoke” and is named after the finding of the collateral cerebral vasculature that develops secondary to occlusion of an internal carotid artery at the entrance into the circle of Willis. This collateral vasculature characterizes the disease. Moyamoya should be included in the differential diagnosis in the pediatric population when a patient presents with stroke or stroke-like symptoms. Diagnosis can be made with catheter angiogram or magnetic resonance angiogram. Recent use of magnetic resonance perfusion imaging has been shown to be useful in clinical decision making while assessing the need for revascularization surgery. We present the case of a 15-year-old with comorbid psychiatric illness, neurofibromatosis type I with brainstem glioma, and Moyamoya syndrome. Considering our patient`s complex medical history of psychiatric illness and previously diagnosed neurofibromatosis, magnetic resonance imaging (MRI) with magnetic resonance angiogram (MRA) and magnetic resonance perfusion proved instrumental in helping rule out the progression of arteriopathy as the cause of his worsening seizures and behavior. In our patient, it was determined that the relative perfusion for each hemisphere of the patient’s brain quantitatively lacked significant differences and he was therefore not a candidate for surgical revascularization. These modalities proved instrumental in surgical decision-making and clinical management of the patient.

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Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena

Cited by 3 publications

References 3 publications

An unusual cause of subarachnoid haemorrhage in a patient with newly diagnosed neurofibromatosis: a case report

An unusual cause of subarachnoid haemorrhage in a patient with newly diagnosed neurofibromatosis: a case report

Clinical Characteristics of Moyamoya Angiopathy in a Pediatric Cohort

Moyamoya Syndrome in a Child with Neurofibromatosis Type 1: Magnetic Resonance Imaging as a Tool for Clinical Decision Making

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