Adult-Onset Hemorrhagic Quasi-Moyamoya Disease with Unilateral Steno-occlusive Lesion in a Patient with Neurofibromatosis Type 1

Hori, Yusuke S.; Ebisudani, Yuki; Aoi, Mizuho; Fukuhara, Toru

doi:10.1016/j.jstrokecerebrovasdis.2017.11.025

Cited by 4 publications

(7 citation statements)

References 8 publications

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“…Risk of MA disease has been also attributed to mutations in GUCY1A3 gene, encoding the major nitric oxide receptor in vascular smooth muscle cells (vSMCs) in achalasia cases [ 11 ]. Other sporadic syndromic cases of MA have been reported, as resumed in Table 1 [ 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 ]. However, these observations are not able to fully explain the pathogenesis of MA, which is believed to be much more complex.…”

Section: Introductionmentioning

confidence: 99%

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Sciacca

Rizzo

Bedini

et al. 2018

IJMS

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Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal “moyamoya” vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Herein, we describe the case of a 43 years old woman with bilateral MA and peculiar facial characteristics, having a 484-kb microduplication of the chromosomal region 15q13.3 and a previously unreported 786 kb microdeletion in 18q21.32. This patient may have a newly-recognized genetic syndrome associated with MA. Although the relationship between these genetic variants and MA is unclear, our report would contribute to widening the genetic scenario of MA, in which not only genic mutation, but also genome unbalances are possible candidate susceptibility factors.

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Section: Introductionmentioning

confidence: 99%

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Sciacca

Rizzo

Bedini

et al. 2018

IJMS

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“…The common clinical manifestations include headaches, seizures, and acute neurological deficits secondary to ischemia, due to thrombus or embolization, or intracranial hemorrhage [7]. Moyamoya disease, or more appropriately quasi-Moyamoya disease, with the occlusion of ICA or its branches and numerous resultant collateral channels has also been described [3].…”

Section: Discussionmentioning

confidence: 99%

“…Among the systemic features of involvement, cerebrovascular anomalies, including vascular stenoses and aneurysms, are rare yet recognized entities [2]. However, intracerebral hemorrhage with vascular stenosis in NF-1 is extremely unusual and of uncertain etiopathogenesis with only several cases published in the literature [3,4]. An interesting case of initially undiagnosed NF-1 presenting as an acute neurological emergency is being reported and its possible causes discussed.…”

Section: Introductionmentioning

confidence: 99%

Intracerebral hemorrhage as a rare manifestation in a patient with neurofibromatosis-1 and quasi-Moyamoya disease

Dsouza¹,

Bhattacharya²,

Gupta³

et al. 2022

Our Dermatol Online

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Neurofibromatosis-1 (NF-1) is an autosomal dominant neurocutaneous syndrome with incomplete penetrance and variable phenotypic expressivity. Although it may affect any system of the body, the disease remains generally innocuous. NF-1 has been commonly linked to neurological symptoms, including headaches, seizures, cognitive deficits, and learning disabilities, and others. While optic glioma is the most common CNS complication, vasculopathy and cerebrovascular anomalies have also been rarely reported. Specifically, intracerebral hemorrhage with vascular stenosis in NF-1 is an extremely rare manifestation. Herein, we report a patient with NF-1 presenting with stroke secondary to intracranial hemorrhage and underlying quasi-Moyamoya disease. Since the cutaneous features of NF-1 appear early in life and are striking, dermatologists might be the first contact for such patients with the medical system, and consequently play an important role in the diagnosis, evaluation, and prevention of complications.

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“…Neurofibromatoses encountered in the field of neurosurgery are mostly neoplastic diseases, such as acoustic neuroma, meningioma, and optic glioma. While moyamoya vessels [4][5][6], internal carotid artery occlusion, and stenosis [9,11] are common cerebrovascular lesions, dural arteriovenous fistula [5,14] and cerebral artery dissection [8] have also been identified in NF1 patients. To date, not many case reports have investigated complications of intracranial aneurysms [10,12,13,15,16].…”

Section: Discussionmentioning

confidence: 99%

“…Well-known complications in the central nervous system associated with this disease include neurofibroma and optic glioma. In addition, some studies have demonstrated cardiovascular anomalies in NF1, such as moyamoya disease, internal carotid artery occlusion or stenosis, cerebral arteriovenous fistula, dissection, or intracranial aneurysms [4][5][6][7][8][9][10][11][12][13]. Here, we report a case of NF1 with subarachnoid hemorrhage due to multiple and de novo aneurysms.…”

Section: Introductionmentioning

confidence: 90%

Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report

et al. 2021

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Background Neurofibromatosis type 1 causes various lesions in many organs including the skin, and the incidence of complications with intracranial aneurysms is 9–11%. Here we report a case of neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms. Case presentation The patient was a 49-year-old Japanese woman with a history of neurofibromatosis type 1. She was transported to our hospital owing to disturbance of consciousness and was diagnosed with subarachnoid hemorrhage by computed tomography. Computed tomography angiography revealed multiple, small intracranial aneurysms, and we suspected that one of them in the peripheral branch of the left middle cerebral artery was the source of hemorrhage based on the distribution of hematoma. The patient underwent emergency surgery. Because it was difficult to identify an aneurysm in the most peripheral part of the left middle cerebral artery in the initial surgery, only one aneurysm was clipped. Later, a peripheral aneurysm was clipped using the navigation system. Because both aneurysms were small intracranial aneurysms (< 2 mm), either of them could be the source of hemorrhage. The postoperative course was good, and the patient was discharged in healthy condition. Because brain magnetic resonance imaging performed in the previous year did not find aneurysms at the same site, she was diagnosed with rupture of a de novo aneurysm. Neurofibromatosis type 1 might have caused the rupture of multiple intracranial aneurysms in a short period in this patient. Conclusion Neurofibromatosis type 1 may be complicated by the formation of multiple intracranial aneurysms in a short period.

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Adult-Onset Hemorrhagic Quasi-Moyamoya Disease with Unilateral Steno-occlusive Lesion in a Patient with Neurofibromatosis Type 1

Cited by 4 publications

References 8 publications

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

Intracerebral hemorrhage as a rare manifestation in a patient with neurofibromatosis-1 and quasi-Moyamoya disease

Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report

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