Metilen Tetrahidrofolat Redüktaz A1298C ve Plazminojen Aktivatör İnhibitörü-1 4G/5G Polimorfizmli Çocuk Hastada Ölümcül Akut Arteriyel İskemik İnme

Akut arteriyel iskemik inme (AAİİ) morbidite ve mortalite oranı yüksek bir hastalıktır. Son zamanlarda görüntüleme yöntemlerinin yaygın kullanımıyla birlikte çocuklarda tanı sıklığı artmaktadır. Bu makalede AAİİ tanısı ile takip edilen pediatrik olgu tedavi yaklaşımlarına dikkat çekmek amacıyla sunulmuştur.Ani gelişen fasiyal paralizi ve hemipleji sonucu AAİİ tanısı konulan 15 yaşında erkek hasta çocuk yoğun bakım ünitesinde takibe alındı. Hastanın etyolojiye yönelik tetkiklerinde homozigot metilen tetrahidrofolat redüktaz A1298C ve heterozigot plazminojen aktivatör inhibitörü-1 4G/5G polimorfizmi pozitif saptandı. Yoğun bakım ünitesine yatışından kısa süre sonra beyin ödemi gelişen hastaya mekanik ventilatör desteği altında antiödem tedavisi başlandı. Yoğun antiödem tedavisine rağmen tonsiller ve unkal herniasyon gelişen hasta yatışının 19. gününde ani kardiyak arrest sonucu kaybedildi. Tedaviye rağmen kötü prognozu nedeniyle çocuklarda ortaya çıkan ani nörolojik olaylarda AAİİ akılda bulundurulmalı ve tedavide geç kalınmamalıdır.

Methylene Tetrahydrofolate Reductase A1298C and Plasminogen Activator Inhibitor-1 4G/5G Polymorphism in a Child with Fatal Acute Arterial Ischemic Stroke

Morbidity and mortality rate of the acute arterial ischemic stroke (AAIS) disease is high. The incidence of diagnosis in children have recently been increasing with wide use of imaging modalities. In this article, a pediatric case followed with diagnosis of AAIS is presented to draw attention to treatment strategies.15-year-old male patient was diagnosed as acute arterial ischemic stroke as a result of a sudden onset facial paralysis. In further evaluation for etiology of the patient, homozygous MTHFR A1298C and heterozygous PAI-1 4G/5G polymorphism was detected positively. Shortly after admission of the patient to the intensive care unit, cerebral edema was developed and mechanical ventilatory support and antiedema treatment was started. Although intensive antiedema treatment, uncal and tonsillar herniation developed and in the 19th day of hospitalization, he died the result of a sudden cardiac arrest. Because of poor prognosis despite the treatment in pediatric patients with the sudden onset of neurological symptoms; AAIS should always be considered in mind and should not be too late in treatment.

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  • Yayın Aralığı: Yılda 4 Sayı
  • Yayıncı: Gazi Üniversitesi Tıp Fakültesi
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