Heterozygous methylenetetrahydrofolate reductase 677C-T gene mutation with mild hyperhomocysteinemia associated with intrauterine iliofemoral artery thrombosis

Alioğlu, Bülent; Ozyurek, Emel; Tarcan, Aylin; Ataç, Fatma Belgin; Gürakan, Berkan; Özbek, Namık

doi:10.1097/01.mbc.0000240925.03425.c0

Cited by 24 publications

(23 citation statements)

References 27 publications

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“…Yenidoğanlar-da tromboembolik hastalığın %90'ı arteriyel veya venöz damar yolu kateterizasyonuyla ilişkilidir (2). Neonatal arteriyel trombozun çoğu postnatal dönemde görülmesine rağmen nadiren ekstremite gangreni şeklinde intrauterin dönemde, doğuştan da görülebilir (7). Doğum sonrası sol kolda nekroz saptanan olgumuzda tanı postnatal dönemde konuldu.…”

Section: Discussionunclassified

“…MTHFR enzimi, normal fonksiyonu için vitamin B6 ve B12'ye kofaktör olarak ihtiyaç duyan, homosistein metabolizmasında rol oynayan kritik bir enzimdir (7). MTHFR genindeki C677T polimorfizmi, azalmış enzim aktivitesi ve %25 artmış plazma homosistein düzeyiyle ilişkilidir (3,4).…”

Section: Discussionunclassified

“…Bir çalışmada asemptomatik yenidoğanlarda, MTHFR C677T geninde homozigot ve heterozigot mutasyon prevalansının %5.3-36.2 olduğu rapor edilmiştir (9). Literatürde hafif düzeyde homosistein yüksekliğiyle beraber heterozigot MTHFR C677T gen mutasyonuyla ilişkili, intrauterin dönem-de sağ bacakta iliofemoral arter trombozu saptanan bir olgu yayınlanmıştır (7). Sunulan olgumuzda ise MTHFR geni C677T ve A1298C polimorfizm heterozigotluğu saptanırken, serum homosistein düzeyi normal bulunmuştur.…”

Section: Discussionunclassified

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Congenital Arterial Thrombosis In Newborn: A Case Report

Özdemir¹,

Kılıç²,

Küçüktaşçi³

et al. 2009

TUTFD

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Section: Discussionunclassified

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Congenital Arterial Thrombosis In Newborn: A Case Report

Özdemir¹,

Kılıç²,

Küçüktaşçi³

et al. 2009

TUTFD

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“…Spontaneous arterial thromboses, though extremely rare, are usually severe and mostly involve the aorta tending to mimic congenital heart disease. 3,4,6,61,62 Optimal imaging strategy is vital to make the correct diagnosis and to initiate the proper treatment to minimize end-organ complications. Decreased pulses or the presentation of a cool-mottled extremity should alert the clinician to a possible arterial thrombosis, especially if echocardiography does not determine evidence for aortic coarctation or other heart lesion that restricts left ventricular outflow.…”

Section: Arterial Thrombosesmentioning

confidence: 99%

The evaluation and management of postnatal thromboses

Saxonhouse

Burchfield

2009

J Perinatol

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In the pediatric population, neonates have the highest risk for thromboembolism (TE), most likely due to the frequent use of intravascular catheters. This increased risk is attributed to multiple risk factors. Randomized clinical trials dealing with management of postnatal thromboses do not exist, thus, opinions differ regarding optimal diagnostic and therapeutic interventions. This review begins with an actual case study illustrating the complexity and severity of these types of cases, and then evaluates the neonatal hemostatic system with discussion of the common sites of postnatal thrombosis, perinatal and prothrombotic risk factors, and potential treatment options. A proposed step-wise evaluation of neonates with symptomatic postnatal thromboses will be suggested, as well as future research and registry directions. Owing to the complexity of ischemic perinatal stroke, this topic will not be reviewed. Case study A full-term male infant born through spontaneous vaginal delivery was admitted to the neonatal intensive care unit (NICU) shortly after birth due to a history of low APGAR scores and respiratory distress requiring mechanical ventilation. The pregnancy was complicated by gestational diabetes treated with glyburide and chorioamnionitis was evident during labor. The patient was started on ampicillin and gentamicin and appropriate fluid resuscitation was initiated. The patient improved over the next few days and was able to be weaned off of ventilator support. The patient had an umbilical arterial catheter (UAC) placed after birth that was removed on day 3 of life.On day 4 of life the patient's legs appeared pale. Physical examination demonstrated cool lower extremities and markedly decreased pulses in the feet. Over the previous 24 h, urine output declined significantly.Ultrasound (US) examination of the heart, major vessels and abdomen demonstrated a large thrombus in the descending aorta with very minimal flow to the renal and iliac arteries. A literature search did not reveal any level I management guidelines for thrombosis in neonatal patients, and consideration is now given to surgical thrombectomy, anticoagulation therapy or fibrinolytic therapy. Incidence of neonatal thromboembolic diseaseAlthough neonates have the highest risk of thromboembolism (TE) in the pediatric population, the incidence of postnatal TE varies due to the types of thromboses that were reported and how aggressively centers screened for thromboses. 1 Data from the three international registries are displayed in Table 1. All three registries observed that thromboses occurred in both term and preterm infants and affected male and female infants equally, other than renal vein thrombosis (RVT) that affected more male neonates. [2][3][4] These registries also demonstrated that approximately 90% of venous thromboses in neonates were associated with central venous catheters (CVLs). [2][3][4] The recurrence rate of TE following symptomatic neonatal events ranges from 3.3 to 7%. 5 The international registries are the first step toward...

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“…tasyolarında enzim aktivitesi daha çok azalmasına karşın çok sayıda çalışmada heterozigot MTHFR C677T mutasyonu ile tromboz arası ilişki gösterilmiştir. (3) Homosistein seviyeleri yükselme riski olan hastalarda vazooklüziv hastalıkları önle-mek için antikoagülan tedavi yanında vitamin replasmanı önerilmektedir. (4) Bizim olgumuz da doğum sonrası 1. hafta içeri-sinde sepsis tablosuyla birlikte sağ ve sol ayak distal uçlarında trombozise sekonder ülserasyon ve nekroz geliştiği bildirilmektedir.…”

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