Intrauterine Upper Limb Ischemia Associated with Fetal Thrombophilia: A Case Report and Review of the Literature

Abstract

Neonatal extremity gangrene is rare, even rarer are those born with evidence of intrauterine vascular occlusion. Intrauterine limb ischemia has been attributed to several etiological factors which include thromboembolic disease occluding the arteries of the affected limb or compression of the limb during intrauterine life. In this report, we present a case of brachioradial arterial thrombosis associated with mild homocysteinemia and double heterozygosity of methylenetetrahydrofolate reductase 677C-T and factor V Leiden gene mutations. We suggest investigating the neonates and their mothers for possible genetic prothrombotic risk factors when they present with intrauterine thrombosis as this issue is important for management and counseling.

Intrauterine Upper Limb Ischemia: An Unusual Presentation of Fetal Thrombophilia—A Case Report and Review of the Literature

“…Other major risk factors are maternal diabetes or lupus, preeclampsia, sepsis, polycythemia, asphyxia, oligohydramnios, intrauterine growth retardation, significant dehydration, long obstructed labour, and inherited thrombophilia [1, 3–5, 14–18]. Some inherited thrombophilia defects, for instance, Factor V G1691A, prothrombotic polymorphisms, Factor II G2021A, and the homozygous TT genotype of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, are linked to increased risk of neonatal arterial thrombosis [19].…”

“…Very few case reports of spontaneous neonatal arterial thrombosis at birth have ever been described in the literature [1, 3, 7, 14, 20–29]. Moreover, presenting newborn with evidence of intrauterine upper limb vascular occlusion is even rarer [14, 20, 23, 24, 27, 28].…”

Intrauterine Upper Extremity Thrombosis Successfully Treated with Recombinant Tissue Plasminogen Activator, Enoxaparin and Collagenase

“…Data on the diagnosis and treatment of this challenging condition are only available in the form of case reports (table 1). Although several risk factors are believed to be associated with intrauterine thrombosis, such as maternal diabetes, birth asphyxia, poor cardiac function, polycythemia, maternal lupus, twin-twin transfusion, oligohydramnios, placental infarction, fetal thrombophilia and congenital heart disease [1,2,4], the exact mechanisms behind this condition remain elusive.…”

“…The clinical presentation varies depending on the extremity involved and the initial timing of thrombosis [1,2]. Several case reports on extremity hypoperfusion and gangrene due to intrauterine thrombosis at birth can be found in the literature [1,2,3,4,5,6,7,8,9,10]. Although the condition is usually associated with a poor prognosis, favorable outcomes have also been reported [3,4] (table 1).…”

Intrauterine Extremity Gangrene and Cerebral Infarction at Term: A Case Report

“…The risk of thrombosis is even higher if any of the above conditions are present. Recently, three case reports have linked intrauterine arterial thrombosis with methylenetetrahydrofolate reductase (MTHFR) mutations and factor V Leiden mutation [3, 6, 7]. This connection needs further investigation, though.…”