• Journal of Korean Neurosurgical Society
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• v.67 no.3
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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.

• BMB Reports
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• v.49 no.5
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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.

• Journal of Korean Neurosurgical Society
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• v.67 no.3
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• pp.299-307
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• 2024

Cerebral cavernous malformation (CCM) is a vascular anomaly commonly found in children and young adults. Common clinical presentations of pediatric patients with CCMs include headache, focal neurological deficits, and seizures. Approximately 40% of pediatric patients are asymptomatic. Understanding the natural history of CCM is crucial and hemorrhagic rates are higher in patients with an initial hemorrhagic presentation, whereas it is low in asymptomatic patients. There is a phenomenon known as temporal clustering in which a higher frequency of symptomatic hemorrhages occurs within a few years following the initial hemorrhagic event. Surgical resection remains the mainstay of treatment for pediatric CCMs. Excision of a hemosiderin-laden rim is controversial regarding its impact on epilepsy outcomes. Stereotactic radiosurgery is an alternative treatment, especially for deep-seated CCMs, but its true efficacy needs to be verified in a clinical trial.

• Journal of Korean Neurosurgical Society
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• v.55 no.2
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• pp.89-91
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• 2014

Chronic encapsulated intracerebral hematoma (CEIH) is a rare cerebrovascular disease that behaves as a slowly expanding lesion with a gradual onset. It is well established that CEIH is associated with arteriovenous malformations; however, CEIH associated with cavernous malformation (CM) is extremely rare. We herein report a case of CEIH associated with CM, and discuss its pathogenesis. A 12-year-old female was admitted to our hospital because of a one week history of progressive headache and nausea. Brain computed tomography scan and magnetic resonance imaging showed an intracerebral hematoma surrounded by edema in the right frontal lobe. One week later, her headache and nausea worsened, and a brain computed tomography scan revealed the enlargement of hematoma. A right frontal craniotomy was performed. The capsule, mass, and hematoma were totally removed. Histological examination confirmed the diagnosis of CEIH associated with CM. Immunohistochemical analysis revealed increased expression of vascular endothelial growth factor (VEGF) and the VEGF receptor-1 in the endothelium and fibroblasts. Our findings suggest that the activated VEGF pathway might have positively contributed to development of CEIH in the present patient.

• 대한두경부종양학회:학술대회논문집
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• 2001.11a
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• pp.271-271
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• 2001

• Journal of Korean Neurosurgical Society
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• v.38 no.1
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• pp.74-76
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• 2005

Cavernous angiomas represent 5 to 12% of spinal vascular malformations and usually are located at the vertebral body level with possible extension into the extradural space. The intradural intramedullary cavernous angioma occurs in about 3% of cases, whereas extramedullary localization is extremely rare. We report a case of intradural extramedullary cavernous angioma in which the patient presented with low back pain and both leg pain. The magnetic resonance imaging study showed intraspinal mass lesion at L1-2. It was removed totally through laminectomy of L1-2 and confirmed as cavernous angioma. The postoperative course was uneventful without any neurologic deficit. We report this unusual spinal malformation.

• Clinical and Experimental Pediatrics
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• v.59 no.6
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• pp.280-284
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• 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay.

• Journal of Chest Surgery
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• v.15 no.2
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• pp.183-187
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• 1982

Pulmonary arteriovenous fistula is a congenital vascular malformation In the lung, various synonyms including Pulmonary cavernous vascular malformation, Pulmonary arteriovenous aneurysm, Cavernous hemangioma of the lung0 Pulmonary telangiectasia, Pulmonary hamartoma, etc. The pathogenesis of its symptoms is that unoxygenated, desaturated arterial blood enters into the pulmonary venous system directly. Recently we have experienced one case of the pulmonary arteriovenous fistula which was diagnosed as the pulmonary cystic lesion of the lung preoperatively in 20 years old, 61 kg, male patient. Operation was revealed well circumscribed cystic lesion filled with blood, subpleural and anterior mediobasal location, and bright red colored aspirates on two times needle aspirations. Microscopic finding shows ill circumscribed vascular lesion composed of varying sized blood vessels with irregular thickening of wall and final pathological diagnosis is Pulmonary Arteriovenous Fistula. Basal segmentectomy was done and the patient shows good postoperative course.

• Archives of Craniofacial Surgery
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• v.25 no.4
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• pp.187-191
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• 2024

A 59-year-old woman presented to our clinic with a 3.5×3-cm protruding mass on her forehead. A skull X-ray revealed a radiolucent osteolytic lesion on the left side of the frontal bone. Additionally, computed tomography showed a 3.1×1.7×3.6-cm mass exhibiting a "sunburst" pattern situated between the outer and inner tables of the skull, just superior and lateral to the left frontal sinus. This pattern suggested the presence of an intraosseous vascular malformation (IVM). The lesion was approached via a bicoronal incision. En-bloc resection was performed, removing the mass along with approximately 0.5 cm of the surrounding normal bone without injury to the exposed frontal sinus mucosa. The exposed mucosa was reinforced with a galeal flap, and cranioplasty with bone cement was performed to repair the resulting bony defect. Pathological examination confirmed a diagnosis of intraosseous cavernous-type malformation with mixed cavernous and capillary histological features. We report this case of IVM and review the existing literature, highlighting the satisfactory functional and aesthetic outcomes after surgery.

• Journal of Korean Neurosurgical Society
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• v.43 no.4
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• pp.198-200
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• 2008

Giant cavernous malformations (GCMs) occur very rarely and little has been reported about their clinical characteristics. The authors present a case of a 20-year-old woman with a GCM. She was referred due to two episodes of generalized seizure. Computed tomography and magnetic resonance image demonstrated a heterogeneous multi-cystic lesion of $7\times5\times5$ cm size in the left frontal lobe and basal ganglia, and enhancing vascular structure abutting medial portion of the mass. These fingings suggested a diagnosis of GCM accompanying venous angioma. After left frontal craniotomy, transcortical approach was done. Total removal was accomplished and the postoperative course was uneventful. GCMs do not seem differ clinically, surgically or histopathologically from small cavernous angiomas, but imaging appearance of GCMs may be variable. The clinical, radiological feature and management of GCMs are described based on pertinent literature review.