Journal of Yeungnam Medical Science

Case report

Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report: Jeong A Ham, Sung Hyun Kim, Donghwi Park; J Yeungnam Med Sci. 2023;40(4):419-422. Published online December 2, 2022; DOI: https://doi.org/10.12701/jyms.2022.00493

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Abstract PDF: Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

Case Report

Fibromuscular Dysplasia of the Distal Internal Carotid and Middle Cerebral Artery.: Ju Hyun Kim, Jun Lee; Yeungnam Univ J Med. 2009;26(1):78-83. Published online June 30, 2009; DOI: https://doi.org/10.12701/yujm.2009.26.1.78

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1 Crossref

Fibromuscular dysplasia is an uncommon condition of idiopathic, non-inflammatory and non-atherosclerotic disease of the musculature of arterial walls. The disease is rare, but it commonly affects young and middle aged women. Isolated intracranial cerebral fibromuscular dysplasia is extremely rare because cerebral fibromuscular dysplasia usually affects extracranial vessels. A 26-year-old woman was admitted with right hemiplegia and global aphasia. Brain MRI and MRA demonstrated acute left middle cerebral artery territory infarction with a multifocal stenosis and dilatation of the left middle cerebra artery and left internal carotid. The characteristic conventional cerebral angiographic findings demonstrated a typical string-of-beads appearance in the left distal internal carotid artery and proximal portion of the left middle cerebral artery, which suggested a medial type fibromuscular dysplasia. We report a case of isolated intracranial fibromuscular dysplasia with left middle cerebral artery territory infarction. Fibromuscular dysplasia should be considered as a stroke risk factors in children and young adults, especially in patients with no known cardiovascular risk factors.

Citations

Citations to this article as recorded by

Cerebral Infarction and Recovery in a 12-Year-Old Child With Intracranial Fibromuscular Dysplasia
Min Hwan Kim, Jae In Lee, Shin-seung Yang
Brain & Neurorehabilitation.2023;[Epub] CrossRef

Original Article

Histopathological study of gastric adenoma.: Dong Sug Kim, Hae Joo Nam, Won Hee Choi, Tae Sook Lee, Moon Kwan Chung; Yeungnam Univ J Med. 1991;8(2):76-83. Published online December 31, 1991; DOI: https://doi.org/10.12701/yujm.1991.8.2.76

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Abstract PDF: A total of 53 gastric adenomas from endoscopically biopsied gastric mucosa were examined histopathologically. The average age at the time of endoscopic biopsy was 59 years, and gastric adenomas were found to be more frequent in the aged, particularly above the age of 50. The majority of adenomas occurred at the antrum. Concerning the shape of the adenomas, Yamada type II was more frequent (55%). All adenomas were accompanied by varying degree of intestinal metaplasia, and this findings suggest that gastric adenoma develops from intestinal metaplasia. In adenomas with severe atypia (grade III), endocrine cells (argyrophil and argentaffin cells) were markedly decreased or absent. Gastric adenocarcinomas coexistent with adenoma were seen in 5 (9.4%) out of 53 cases, and were more frequent in male than female patients (sex ratio, 4:1) and the average age was 61.4 years. It is suggested that there is a necessity of thorough follow-up study for definitive correlation between gastric adenoma and adenocarcinoma.

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