Case Report
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Acute Ischemic Stroke in an Infant with MTHFR A1298C Homozygous Mutation: A Case Report

Year 2020, Volume: 20 Issue: 1, 36 - 39, 10.07.2020

Abstract

Acute ischemic stroke is rare in children, but it is one of the important causes of neurological morbidity. The etiology of AIS in childhood includes cardiac pathologies, cerebral arteriopathies, hypercoagulation, chemicals, drugs, inflammatory and autoimmune causes. In this article, we present an infant who has a genetic predisposition to hypercoagulation and comes with AIS clinic when multifactorial risk factors are added. The diagnosis, the underlying etiology, the risk factors affecting the process, the treatment of acute phase, the secondary treatment and the associated preventive approach on prognosis were discussed.

References

  • 1. Mallick AA, Ganesan V, O’Callaghan FJ. Mortality from childhood stroke in England and Wales, 1921–2000. Arch Dis Child 2010;95:12-9.
  • 2. Homocysteine Studies Collaboration. Homocysteine and risk of ischemic heart disease and stroke: a meta-analysis. JAMA 2002; 288:2015-22.
  • 3. Hujar BS, Kopyta I, Skrzpek M. Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis. Clin Exp Med 2018;18:337-45.
  • 4. Mallick AA, Ganesan V, Kirkham FJ, Fallon P, Hedderly T, McShane T, et al. Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study. Lancet Neurol 2014;13(1):35-43.
  • 5. Lo WD, Kumar R. Arterial ischemic stroke in children and young adults. Continuum (Minneap Minn) 2017;23:158-80.
  • 6. Felling RJ, Sun LR, Maxwell EC, Goldenberg N, Bernard T. Pediatric arterial ischemic stroke: epidemiology, risk factors, and management. Blood Cells Mol Dis 2017;67:23-33.
  • 7. Strater R, Kurnik K, Heller C, Schobess R, Luigs P, Nowak-Gottl U. Aspirin versus low-dose low- molecular-weight heparin: antithrombotic therapy in pediatric ischemic stroke patients: a prospective follow-up study. Stroke 2001;32(11):2554-8.
  • 8. Clarke R, Armitage J. Vitamin supplements and cardiovascular risk: review of the randomized trials of homocysteine-lowering vitamin supplements. Semin Thromb Hemost 2000;26:341-8.
  • 9. Simonetti BG, Cavelti A, Arnold M, Bigi S, Regényi M, Mattle HP, et al. Long-term outcome after arterial ischem

MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu

Year 2020, Volume: 20 Issue: 1, 36 - 39, 10.07.2020

Abstract

Akut iskemik inme (acute ischemic stroke-AIS) çocuklarda nadir görülmekle beraber nörolojik morbiditenin önemli nedenlerinden biridir. Çocukluk çağında AIS etyolojisinde kardiyak patolojiler, serebral arteriopatiler, hiperkoagülasyon, enfeksiyonlar, ilaçlar, inflamatuar ve otoimmün nedenler yer almaktadır. Bu makalede hiperkoagülasyona genetik yatkınlığı olan, multifaktöriyel risk faktörleri eklenince AIS kliniği ile gelen bir süt çocuğu sunulmakta olup; AIS olgularında tanı aşaması, altta yatan etyoloji, süreci etkileyen risk faktörleri, akut dönem tedavi, ikincil basamak tedavi ve beraberinde koruyucu yaklaşımın prognoz üzerindeki etkisi tartışılmıştır.

References

  • 1. Mallick AA, Ganesan V, O’Callaghan FJ. Mortality from childhood stroke in England and Wales, 1921–2000. Arch Dis Child 2010;95:12-9.
  • 2. Homocysteine Studies Collaboration. Homocysteine and risk of ischemic heart disease and stroke: a meta-analysis. JAMA 2002; 288:2015-22.
  • 3. Hujar BS, Kopyta I, Skrzpek M. Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis. Clin Exp Med 2018;18:337-45.
  • 4. Mallick AA, Ganesan V, Kirkham FJ, Fallon P, Hedderly T, McShane T, et al. Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study. Lancet Neurol 2014;13(1):35-43.
  • 5. Lo WD, Kumar R. Arterial ischemic stroke in children and young adults. Continuum (Minneap Minn) 2017;23:158-80.
  • 6. Felling RJ, Sun LR, Maxwell EC, Goldenberg N, Bernard T. Pediatric arterial ischemic stroke: epidemiology, risk factors, and management. Blood Cells Mol Dis 2017;67:23-33.
  • 7. Strater R, Kurnik K, Heller C, Schobess R, Luigs P, Nowak-Gottl U. Aspirin versus low-dose low- molecular-weight heparin: antithrombotic therapy in pediatric ischemic stroke patients: a prospective follow-up study. Stroke 2001;32(11):2554-8.
  • 8. Clarke R, Armitage J. Vitamin supplements and cardiovascular risk: review of the randomized trials of homocysteine-lowering vitamin supplements. Semin Thromb Hemost 2000;26:341-8.
  • 9. Simonetti BG, Cavelti A, Arnold M, Bigi S, Regényi M, Mattle HP, et al. Long-term outcome after arterial ischem
There are 9 citations in total.

Details

Primary Language Turkish
Subjects Paediatrics
Journal Section Case Report
Authors

Burçin Nazlı Karacabey This is me 0000-0001-8857-4356

Nur Aydınlı This is me 0000-0003-0492-3411

Mine Çalışkan This is me 0000-0002-6869-3937

Publication Date July 10, 2020
Published in Issue Year 2020 Volume: 20 Issue: 1

Cite

APA Karacabey, B. N., Aydınlı, N., & Çalışkan, M. (2020). MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu. Journal of Child, 20(1), 36-39.
AMA Karacabey BN, Aydınlı N, Çalışkan M. MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu. Journal of Child. July 2020;20(1):36-39.
Chicago Karacabey, Burçin Nazlı, Nur Aydınlı, and Mine Çalışkan. “MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu”. Journal of Child 20, no. 1 (July 2020): 36-39.
EndNote Karacabey BN, Aydınlı N, Çalışkan M (July 1, 2020) MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu. Journal of Child 20 1 36–39.
IEEE B. N. Karacabey, N. Aydınlı, and M. Çalışkan, “MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu”, Journal of Child, vol. 20, no. 1, pp. 36–39, 2020.
ISNAD Karacabey, Burçin Nazlı et al. “MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu”. Journal of Child 20/1 (July 2020), 36-39.
JAMA Karacabey BN, Aydınlı N, Çalışkan M. MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu. Journal of Child. 2020;20:36–39.
MLA Karacabey, Burçin Nazlı et al. “MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu”. Journal of Child, vol. 20, no. 1, 2020, pp. 36-39.
Vancouver Karacabey BN, Aydınlı N, Çalışkan M. MTHFR A1298C Homozigot Gen Polimorfizmi Olan Süt Çocuğunda Akut İskemik İnme: Olgu Sunumu. Journal of Child. 2020;20(1):36-9.