Burçin NAZLI KARACABEY, Nur AYDINLI, Mine ÇALIŞKAN

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

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.

Anahtar Kelimeler:

Akut iskemik inme, MTHFR A1298C, homosisteinemi, süt çocuğu

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

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.

Keywords:

Acute ischemic stroke, MTHFR A1298C, homocysteinemia, infant,

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