A Rare Case of Cerebral Sinovenous Thrombosis Associated with MTHFR A1298C and C677T Mutations
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Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation-associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A1298C (1298AC) mutations. Analysis of MTHFR in the patient's mother did not detect a C677T (677CC) mutation but detected a homozygous A1298C (1298CC) mutation. Our results suggest that the presence of heterozygous MTHFR C677T and A1298C mutations affect thrombophilic activity in the neonate, resulting in the development of refractory seizure and CSVT. Moreover, presence of the homozygous MTHFR A1298C mutation in the patient's mother, who did not show any symptoms associated with thrombophilic activity, and conditions during gestation may have affected the patient's condition.
Abstract
Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation-associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A1298C (1298AC) mutations. Analysis of MTHFR in the patient's mother did not detect a C677T (677CC) mutation but detected a homozygous A1298C (1298CC) mutation. Our results suggest that the presence of heterozygous MTHFR C677T and A1298C mutations affect thrombophilic activity in the neonate, resulting in the development of refractory seizure and CSVT. Moreover, presence of the homozygous MTHFR A1298C mutation in the patient's mother, who did not show any symptoms associated with thrombophilic activity, and conditions during gestation may have affected the patient's condition.
참고문헌 (18)
- Weisberg I, "A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity", Mol Genet Metab, 64, pp.169~172 (1998)
- Fodinger M, "Molecular biology of 5,10-methylenetetrahydrofolate reductase", J Nephrol, 13, pp.20~33 (2000)
- Altomare I, "The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature", Thromb J, 5, pp.17~ (2007)
- Gibson CS, "Associations between fetal inherited thrombophilia and adverse pregnancy outcomes", Am J Obstet Gynecol, 194(947), pp.e1~e10 (2006)
- van der Put NM, "A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?", Am J Hum Genet, 62, pp.1044~1051 (1998)
- Cizmeci MN, "Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report", J Thromb Thrombolysis, 35, pp.279~281 (2013)
- Arpino C, "MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations", Childs Nerv Syst, 27, pp.665~669 (2011)
- Loman AM, "Neonatal seizures: Aetiology by means of a standardized work-up", Eur J Paediatr Neurol, 15, pp.360~367 (2014)
- deVeber G, "Cerebral sinovenous thrombosis in children", N Engl J Med, 345, pp.417~423 (2001)
- Wu YW, "Multiple risk factors in neonatal sinovenous thrombosis", Neurology, 59, pp.438~440 (2002)
- Yang JY, "Neonatal cerebral sinovenous thrombosis: sifting the evidence for a diagnostic plan and treatment strategy", Pediatrics, 126, pp.e693~e700 (2010)
- Bracken J, "Potential pitfalls in imaging of paediatric cerebral sinovenous thrombosis", Pediatr Radiol, 43, pp.219~231 (2013)
- Jordan LC, "Antithrombotic treatment in neonatal cerebral sinovenous thrombosis: results of the International Pediatric Stroke Study", J Pediatr, 156, pp.704~710 (2010)
- Monagle P, "Antithrombotic therapy in neonates and children: American College of chest physicians evidencebased clinical practice guidelines (8th Edition)", Chest, 133, pp.887S~968S (2008)
- Kenet G, "Risk factors for recurrent venous thromboembolism in the European collaborative paediatric database on cerebral venous thrombosis: a multicentre cohort study", Lancet Neurol, 6, pp.595~603 (2007)
- Berfelo FJ, "Neonatal cerebral sinovenous thrombosis from symptom to outcome", Stroke, 41, pp.1382~1388 (2010)
- Rook JL, "Pediatric stroke and methylenetetrahydrofolate reductase polymorphisms: an examination of C677T and A1298C mutations", J Pediatr Hematol Oncol, 27, pp.590~593 (2005)
- Brown NM, "Detection of 677CT", 1298AC "double variant"chromosomes: implications for interpretation of MTHFR genotyping results, 2005, pp.7, 278~282