• 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.

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

• 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 Cerebrovascular and Endovascular Neurosurgery
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• v.26 no.3
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• pp.298-303
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• 2024

Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• v.26 no.1
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• pp.79-84
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• 2024

Intracranial non-galenic pial arteriovenous fistula (PAVF) is an extremely rare vascular malformation, where one or more pial arteries feeds directly into a cortical vein without any intervening nidus. Though occasionally they can be asymptomatic, neurological symptoms such as headache, seizure, or focal neurological deficit are more common presenting features. Life threatening or fatal hemorrhage is not uncommon, hence needed to be treated more often than not. Spontaneous occlusion of PAVF is reported only four times before. We report a 49-year-old gentleman, who was diagnosed to have a PAVF, possibly secondary to trauma. He presented 5 months and 22 days from initial digital subtraction angiography (DSA) for treatment, and follow-up angiogram showed complete obliteration. He denied any significant event, medication or alternate treatment during this period. His clinical symptoms were stable as well. We postulate iodinated contrast medium induced vasculopathy as a possible cause, which has been described for other vascular pathologies, but never for PAVF.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• v.26 no.3
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• pp.304-310
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• 2024

Giant cerebellar cavernomas in children are rare and must be differentiated from hemorrhagic cerebellar tumors. The diagnosis and treatment of giant cerebellar cavernomas is challenging, but complete surgical resection can lead to favorable outcomes and complete neurological recovery in most cases. We present a case of eight months old baby who was diagnosed with a giant cavernoma resulting in secondary obstructive hydrocephalus with neuropsychiatric presentations. The patient underwent a paramedian craniotomy surgery with a suboccipital approach and complete surgical resection of the cavernoma was done. Over nine months of observation, the child showed improvement in their ability to walk and fully recovered from a neurological perspective. We also conducted a literature review to identify eleven cases of giant cerebellar cavernomas in children, including our case. The data were analyzed to determine the clinical features, treatment, and outcomes of giant cerebellar cavernomas in children.