{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T10:26:29Z","timestamp":1770114389145,"version":"3.49.0"},"reference-count":32,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"1","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cosmet Laser Ther"],"published-print":{"date-parts":[[2025,1,6]]},"abstract":"\n BACKGROUND<\/jats:title>\n Cases of congenital disorders of glycosylation (CDGs) are rare, and the occurrence of hemorrhagic infarction is also rare. The etiology is unclear.<\/jats:p>\n <\/jats:sec>\n \n OBSERVATIONS<\/jats:title>\n A 3-year-old Asian boy with CDG type 1A was hospitalized with pneumonia. Consciousness disturbance and hemiplegia appeared after high fever and were associated with disseminated intravascular coagulation. Magnetic resonance (MR) images showed subcortical hemorrhagic infarction due to anterior superior sagittal sinus occlusion. Follow-up computed tomography revealed the enlargement of a right frontal lobe hematoma with a midline shift. The authors performed emergency craniotomy for hematoma evacuation. The postoperative course was favorable, with improvements in consciousness and hemiplegia.<\/jats:p>\n Patients with CDG type 1A have various types of coagulation disorders and sometimes develop several thrombotic and bleeding events; however, there has only been one reported case of CDG with concomitant intracranial hemorrhagic infarction. The authors detected sinus thrombosis on MR images for the first time in a patient with CDG.<\/jats:p>\n <\/jats:sec>\n \n LESSONS<\/jats:title>\n In patients with CDGs, abnormalities in the coagulation-fibrinolysis system can cause various neurological symptoms, such as intracranial bleeding, cerebral ischemia, and stroke-like episodes. In Asian infants with suspected cerebral venous sinus thrombosis, it is advisable to conduct examinations that include imaging modalities, such as MR venography and\/or contrast-enhanced T1-weighted imaging, to confirm complications.<\/jats:p>\n \n https:\/\/thejns.org\/doi\/10.3171\/CASE23729<\/jats:ext-link>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/case23729","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T01:47:03Z","timestamp":1736128023000},"source":"Crossref","is-referenced-by-count":0,"title":["Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case"],"prefix":"10.3171","volume":"9","author":[{"given":"Yu","family":"Nomura","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Morita","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kota","family":"Ueno","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryota","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Katagai","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichiro","family":"Asano","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"2","key":"bib1","series-title":"Genet Med","first-page":"268","article-title":"Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update","volume":"22","author":"Verheijen","year":"2020","unstructured":"Verheijen JTahata SKozicz TWitters PMorava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22(2):268-279."},{"issue":"3","key":"bib2","series-title":"Res Pract Thromb Haemost","first-page":"100142","article-title":"Hemostatic defects in congenital disorders of glycosylation","volume":"7","author":"Pascreau","year":"2023","unstructured":"Pascreau TAuditeau CBorgel D. Hemostatic defects in congenital disorders of glycosylation. Res Pract Thromb Haemost. 2023;7(3):100142."},{"issue":"24","key":"bib3","series-title":"Ann Transl Med","first-page":"477","article-title":"Congenital disorders of glycosylation","volume":"6","author":"Chang","year":"2018","unstructured":"Chang IJHe MLam CT. Congenital disorders of glycosylation. Ann Transl Med. 2018;6(24):477."},{"issue":"5","key":"bib4","series-title":"J Neurosurg Pediatr","first-page":"546","article-title":"Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage","volume":"14","author":"Stefanits","year":"2014","unstructured":"Stefanits HKonstantopoulou VKuess MMilenkovic IMatula C. Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. J Neurosurg Pediatr. 2014;14(5):546-549."},{"issue":"16","key":"bib5","series-title":"J Mol Sci","first-page":"5630","article-title":"Platelets and defective N-glycosylation. Int","volume":"21","author":"Mammadova-Bach","year":"2020","unstructured":"Mammadova-Bach EJaeken JGudermann TBraun A. Platelets and defective N-glycosylation. Int J Mol Sci. 2020;21(16):5630."},{"issue":"12","key":"bib6","series-title":"J Med Genet","first-page":"843","article-title":"Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature","volume":"54","author":"Schiff","year":"2017","unstructured":"Schiff MRoda CMonin ML, et al. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. J Med Genet. 2017;54(12):843-851."},{"issue":"4","key":"bib7","series-title":"Mol Genet Metab","first-page":"107562","article-title":"Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation","volume":"138","author":"Eklund","year":"2023","unstructured":"Eklund EAMiller BSBoucher AA. Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation. Mol Genet Metab. 2023;138(4):107562."},{"key":"bib8","series-title":"Front Pediatr","first-page":"717864","article-title":"Stroke-like episodes in PMM2-CDG: when the lack of other evidence is the only evidence","volume":"9","author":"Serrano","year":"2021","unstructured":"Serrano M. Stroke-like episodes in PMM2-CDG: when the lack of other evidence is the only evidence. Front Pediatr. 2021;9:717864."},{"issue":"2","key":"bib9","series-title":"J Inherit Metab Dis","first-page":"162","article-title":"Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1","volume":"23","author":"Imtiaz","year":"2000","unstructured":"Imtiaz FWorthington VChampion M, et al. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. 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Res Pract Thromb Haemost. 2023;7(3):100142."},{"issue":"24","key":"bib3","series-title":"Ann Transl Med","first-page":"477","article-title":"Congenital disorders of glycosylation","volume":"6","author":"Chang","year":"2018","unstructured":"Chang IJHe MLam CT. Congenital disorders of glycosylation. Ann Transl Med. 2018;6(24):477."},{"issue":"5","key":"bib4","series-title":"J Neurosurg Pediatr","first-page":"546","article-title":"Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage","volume":"14","author":"Stefanits","year":"2014","unstructured":"Stefanits HKonstantopoulou VKuess MMilenkovic IMatula C. Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. 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Front Pediatr. 2021;9:717864."},{"issue":"2","key":"bib9","series-title":"J Inherit Metab Dis","first-page":"162","article-title":"Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1","volume":"23","author":"Imtiaz","year":"2000","unstructured":"Imtiaz FWorthington VChampion M, et al. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis. 2000;23(2):162-174."},{"issue":"4","key":"bib10","series-title":"Thromb Haemost","first-page":"1199","article-title":"Thrombophilia in a child with CDG-syndrome type I","volume":"74","author":"Funk","year":"1995","unstructured":"Funk MBecker SP\u00f6tzsch BKreuz WB\u00f6hles H. Thrombophilia in a child with CDG-syndrome type I. Thromb Haemost. 1995;74(4):1199-1200."},{"issue":"4","key":"bib11","series-title":"J Inherit Metab Dis","first-page":"880","article-title":"An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation","volume":"43","author":"Brucker","year":"2020","unstructured":"Brucker WJCroteau SEPrensner JR, et al. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. J Inherit Metab Dis. 2020;43(4):880-890."},{"issue":"4","key":"bib12","series-title":"Mol Genet Metab","first-page":"444","article-title":"Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.","volume":"93","author":"Arnoux","year":"2008","unstructured":"Arnoux JBBoddaert NValayannopoulos V, et al. 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J Stroke Cerebrovasc Dis. 2019;28(10):104247."},{"issue":"5","key":"bib15","series-title":"Acta Neurol Belg","first-page":"1211","article-title":"Pediatric cerebral sinus venous thrombosis: clinical characterization of a Portuguese cohort","volume":"122","author":"Rodrigues","year":"2022","unstructured":"Rodrigues SGVieira DBernardo F, et al. Pediatric cerebral sinus venous thrombosis: clinical characterization of a Portuguese cohort. Acta Neurol Belg. 2022;122(5):1211-1218."},{"issue":"7","key":"bib16","series-title":"Stroke","first-page":"2241","article-title":"Cerebral venous sinus thrombosis in preterm infants","volume":"53","author":"Christensen","year":"2022","unstructured":"Christensen RKrishnan PdeVeber G, et al. Cerebral venous sinus thrombosis in preterm infants. Stroke. 2022;53(7):2241-2248."}],"container-title":["Journal of Neurosurgery: Case Lessons"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/9\/1\/article-CASE23729.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/9\/1\/article-CASE23729.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/9\/1\/article-CASE23729.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T23:36:22Z","timestamp":1770075382000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/9\/1\/article-CASE23729.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,6]]},"references-count":32,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.3171\/case23729","relation":{},"ISSN":["2694-1902"],"issn-type":[{"value":"2694-1902","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,6]]}}}