1.Moyamoya disease: insights into the clinical implications of the RNF213 gene
Cardiovascular Prevention and Pharmacotherapy 2024;6(4):109-115
Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of the terminal internal carotid arteries and the formation of compensatory collateral vessels, which appear as a “puff of smoke” on cerebral angiography. It is a significant cause of stroke in East Asia, with an incidence of 0.5 to 1.5 cases per 100,000 people annually. The etiology of MMD remains unclear; however, the identification of the RNF213 gene, particularly the R4810K variant, as a major susceptibility factor among the East Asian population, has provided crucial insights into the disease's pathophysiology and clinical manifestations. MMD typically presents with transient ischemic attacks, ischemic and hemorrhagic strokes, seizures, headaches, and cognitive deficits. Diagnostic criteria have evolved to emphasize advanced imaging techniques. Pathological features include fibrocellular intimal thickening, irregular undulation of the elastic lamina, and the formation of moyamoya vessels. The mutation in the RNF213 gene impairs the degradation of proteins involved in vessel development, leading to abnormal angiogenesis. Genotype-phenotype studies indicate that the RNF213 variant is associated with an earlier onset, transient ischemic attacks, infarctions, and involvement of the posterior cerebral artery, although its effects vary between regions. Additionally, the homozygous RNF213 variant consistently correlates with an earlier age of onset and a higher risk of cerebral infarction. However, further research is necessary to fully understand its long-term impacts and its relationship with revascularization outcomes. Ongoing research is crucial to fully comprehend the pathophysiology and genetics of MMD, improve prognostic predictions, and develop novel therapies.
2.Isolated Unilateral Ptosis Caused by Idiopathic Orbital Myositis
Jeong Hee CHO ; Sohi BAE ; Taedong OK ; Chan Wook PARK
Korean Journal of Neuromuscular Disorders 2020;12(2):39-43
Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.
3.Isolated Unilateral Ptosis Caused by Idiopathic Orbital Myositis
Jeong Hee CHO ; Sohi BAE ; Taedong OK ; Chan Wook PARK
Korean Journal of Neuromuscular Disorders 2020;12(2):39-43
Idiopathic orbital myositis is considered as a subgroup of idiopathic orbital inflammatory disease. It is a non-infectious inflammatory disorder primarily affecting the extraocular muscles and causes various eye symptoms including pain, diplopia and limitation of extraocular movement. Cases of isolated ptosis by idiopathic orbital myositis have been very rarely described in the literature. We report a patient who developed unilateral painless ptosis caused by idiopathic orbital myositis. A 52-year-old man presented with drooping of the right eyelid for 3 days. There was no history of headache, double vision or any other complaints. Neurological examination revealed right ptosis without pupil and extraocular muscles involvement. Repetitive nerve stimulation test was normal. Ptosis did not improve after the neostigmine injection. Magnetic resonance imaging scan showed asymmetric enlargement of right superior rectus/levator palpebrae superioris muscle complex and medial rectus muscle. Ptosis resolved dramatically after oral corticosteroid therapy. Isolated unilateral ptosis can be caused by various etiologies. Idiopathic orbital myositis should be considered in the differential diagnosis of ptosis.
5.Fatal Femoral Pseudoaneurysm Rupture after Endovascular Intervention: A Case Report and Literature Review
Taedong OK ; Kwon-Duk SEO ; Il Hyung LEE
Neurointervention 2024;19(1):52-56
A rupture of a femoral pseudoaneurysm is an extremely rare complication of endovascular procedures, but its outcome can be life-threatening. In this report, we present a case of a femoral pseudoaneursym rupture in a patient in their early 90s following intra-arterial mechanical thrombectomy for acute ischemic stroke. Despite receiving medical and surgical interventions, the patient subsequently developed multiple organ failure, ultimately resulting in death. This case emphasizes the critical role of appropriate selection of vascular closure technique and careful post-procedural monitoring, particularly in high-risk patients.
6.Inadvertent Detachment of Stent Retrievers: Report of 2 Cases
Taedong OK ; Pyeong Ho YOON ; Kwon-Duk SEO
Neurointervention 2024;19(3):180-184
Mechanical thrombectomy using a stent retriever is a widely-used technique for recanalizing occluded cerebral arteries in acute ischemic stroke. Although rare, inadvertent stent detachment has primarily been reported with earlier stent retriever designs. We present 2 cases of inadvertent stent detachment with the pRESET stent. In the first case, an elderly patient presented with right middle cerebral artery occlusion and experienced stent detachment during the second retrieval. Despite this, successful recanalization was achieved through balloon angioplasty. In the second case, an elderly patient experienced stent detachment after the third retrieval, and recanalization of the M1 segment was unsuccessful due to the inability to pass the microcatheter. The first patient had a modified Rankin scale (mRS) score of 3, while the second had a poor prognosis with an mRS score of 5. These cases highlight that inadvertent stent detachment can impact outcomes, and balloon angioplasty may serve as a useful salvage therapy.
8.Traumatic Meningeal Enhancement on Post-Fluid Attenuated Inversion Recovery after Minor Head Trauma
Taedong OK ; Bang Hoon CHO ; Sang Hyun SUH ; Kyung Yul LEE
Journal of the Korean Neurological Association 2019;37(1):100-101
No abstract available.
Craniocerebral Trauma
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Head
9.Improving the Prognosis of Patients With Acute Ischemic Stroke Treated in the Late Time Window After the Introduction of Advanced Imaging Software: Benefits From Thrombectomy in the Extended Time Window
Taedong OK ; Pyeong Ho YOON ; Gyu Sik KIM ; Kwon-Duk SEO
Journal of Korean Medical Science 2022;37(50):e358-
Background:
Mechanical thrombectomy (MT) of ischemic stroke was recommended as a clinical guideline in 2015, and the indication for time was expanded in 2018 based on two clinical studies. We aimed to compare and analyze the prognosis of patients treated under the extended time indication before and after the introduction of advanced software.
Methods:
We obtained data from medical records between 2016 to 2020. From 2016 to 2017, patients who did not receive MT who visited the hospital within 24 hours from the last normal time (LNT) were classified as standard medical treatment (SMT) group. Among patients who underwent MT between 2019 and 2020, patients who visited the hospital between 6-24 hours from the LNT were classified into the extended MT (EMT) group. Good outcome was defined as 3-months modified rankin scale (mRS) ≤ 2, and a poor outcome as mRS ≥ 4.
Results:
From 2016 to 2017, 1,058 patients were hospitalized for ischemic stroke, of which 60 (5.7%) received MT, and 27 patients were classified into the SMT group. Among 1,019 patients between 2019 and 2020, 85 (8.3%) received MT, and 24 patients were in the EMT group. Among the SMT group, only 3 had a good prognosis, and 24 (88.9%) had a poor prognosis. However, in the EMT group, 10 (41.7%) had a good prognosis, and 9 (37.5%) had a poor prognosis. The SMT group had a 49.1 times higher risk of poor prognosis compared to the EMT group (P = 0.008).
Conclusion
The number of patients with ischemic stroke who receive MT has increased by using advanced imaging software. It was confirmed that patients treated based on the extended time indication also had a good prognosis.
10.Delayed Migration of Tapered Open-Cell Design Carotid Stent: A Case Report
Il Hyung LEE ; Taedong OK ; Yo Han JUNG ; Kyung-Yul LEE ; Sang Hyun SUH
Neurointervention 2023;18(3):204-208
We present a case of delayed migration of an open-cell design carotid stent, which is a rare complication following carotid artery stenting (CAS). A 65-year-old patient with carotid artery stenosis underwent CAS with an open-cell stent, initially achieving successful deployment. However, 4 months later, the stent migrated and resulted in restenosis. The patient underwent balloon angioplasty and received an additional stent, leading to improved blood flow. The rarity of stent migration, particularly in the absence of risk factors, highlights the need for clinicians to be vigilant and consider early imaging follow-up for patients at risk of this complication after CAS.