• Journal of Korean Neurosurgical Society
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• 제67권3호
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• pp.265-269
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• 2024

Pediatric central nervous system (CNS) vascular malformations are a group of abnormal blood vessel formations within the brain or spinal cord in children. The most crucial point of pediatric CNS vascular malformation is that no golden standard classifications exist. In addition, there is a big gap in knowledge and the viewpoint of clinicians, radiologists, and pathologists. In addition, many genes associated with pediatric CNS vascular malformation, such as Sturge-Weber-Dimitri syndrome with guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) gene mutation, and cavernous malformations with cerebral cavernous malformations 1 (CCM1), CCM2, and CCM3 gene mutation, were recently revealed. For proper therapeutic approaches, we must understand the lesions' characterizations in anatomical, morphological, and functional views. In this review, the author would like to provide basic pediatric CNS vascular malformation concepts with understandable diagrams. Thus, the author hopes that it might be helpful for the proper diagnosis and treatment of CNS pediatric vascular malformations.

• Journal of Korean Neurosurgical Society
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• 제67권3호
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• pp.270-279
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• 2024

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

• Journal of Korean Neurosurgical Society
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• 제67권3호
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• pp.261-264
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• 2024

• Investigative Magnetic Resonance Imaging
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• 제21권1호
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• pp.34-37
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• 2017

A 45-year-old female visited our clinic due to sudden right leg weakness and sensory loss. Brain and spinal cord magnetic resonance imaging showed widespread cavernous malformations. Cavernous malformation in L1 spine area was accompanied by a subacute stage hematoma with perilesional edema. Sensory loss subsided after corticosteroid therapy. Usually, neurologic deficit by spinal cavernous malformation appears more chronically in the adults compared to children. Treatment options are difficult to establish in a case with multiple cavernous malformations. Identifying hemorrhagic lesions by extensive neuroimaging evaluation could be helpful to select the treatment target for cavernous malformation.

• 대한영상의학회지
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• 제81권5호
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• pp.1246-1249
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• 2020

튜불린병증, 즉 튜불린 유전자의 변이는 복합 뇌피질 발달 기형의 원인으로 알려져 있다. 그중에서 TUBB3 유전자가 기형의 원인인 사례는 매우 드물어 이를 보고하고자 한다. 21개월 남아가 발달지연을 주소로 내원하였다. 환아는 혼자 걷지 못하였고 구사 가능한 단어가 5개 이내였다. 신체검사상 우측 내사시와 양하지 근력저하가 관찰되었다. 뇌 자기공명영상에서 뇌간의 이형성, 기저핵의 이형성 및 과형성 소견이 보였고 우측 시상의 크기가 좌측보다 작았으며 붕괴된 소뇌이랑의 소견이 보였다. DNA 염기서열 분석 결과 TUBB3 유전자의 과오돌연변이가 확인되었다.

• BMB Reports
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• 제49권5호
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• pp.255-262
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• 2016

The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified 'loss of function' mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research.

• 대한영상의학회지
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• 제84권2호
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• pp.489-497
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• 2023

두개내 경막 동정맥루는 모든 두개내 혈관 기형의 약 10%-15%를 차지하는 비정상적인 동정맥 단락이다. 대부분의 두개내 경막동정맥루는 단독형이며, 다른 부위에 여러 경막동정맥루가 있는 경우는 드물다. 여러 경막동정맥루에 대한 대부분의 증례 보고에서는 동기형 동정맥루를 기술하였고, 이시성 경막동정맥루에 대한 보고는 상대적으로 적다. 이에 저자들은 경막 동정맥루의 색전술 후 추적 영상에서 이시성 경막 동정맥루가 발견된 75세 여성의 증례를 보고 하고자 한다.

• 대한소아치과학회지
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• 제34권4호
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• pp.666-671
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• 2007

윌리엄스 증후군은 심혈관계, 결합조직 및 중추신경계에 다발성 이상이 발생되는 선천성 장애이며 정신지체, 특이한 안모, 심혈관 질환이 동반되고 치아의 형태 이상, 치아 결손, 부정교합 등의 전형적인 구강내 소견을 나타낸다. 본 증례에서는 윌리엄스 증후군으로 진단된 환자에서 이미 보고된 구강내 소견 외에 영구치의 비정상적 맹출 경로로 인한 매복 소견이 나타났으며 이에 대한 치과적인 치료 과정을 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제57권1호
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• pp.65-67
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• 2015

Cavernous hemangiomas were first reported in 1929 by Globus and Doshay, and are defined as benign vascular structures developed between the neural tissues occurring in the central nervous system, consisting of a dilated vascular bed. Cavernous hemangiomas comprise nearly 5-12% of all spinal vascular malformations; however, existence in the epidural space without bone involvement is rare. Only 4% of all cavernous hemangiomas (0.22/1.000.000) are purely epidural cavernous hemangiomas. In this case report, we removed a hemorrhagic thoracic mass presenting with progressive neurological deficits in a 55-year-old male patient. We found this case to be appropriate for presentation due to the rare occurrence of this type of cavernous hemangioma.

• Clinical and Experimental Pediatrics
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• 제55권1호
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• pp.29-33
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• 2012

PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.