Intrauterine upper limb thrombosis: an unusual presentation

Abstract

Intrauterine thrombosis with extremity ischemia presenting at birth in a newborn is a rare event. A 29 year old mother, 2nd gravida with one first trimester spontaneous abortion delivered a 33week gestation male preterm baby. On Examination, the entire left upper limb was ischemic and edematous with an absent flow on Doppler USG. Low molecular weight heparin (LMWH) was started after which gradually the limb turned pink with good volume pulsations. Thrombophilia mutation studies revealed the heterozygous state for the MTHFR (C677T) mutation only in the mother. Prompt diagnosis and early treatment has a favourable outcome in cases of intra-uterine thrombo-embolism.

Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene

“…It can affect nearly 1 in every 20000-30000 births and contributes to approximately 2.4-6.8 per 1000 neonatal intensive care unit (NICU) admissions according to the literature [1,14,15]. It occurs due to iatrogenic causes (catheterization) in 90% of cases, but can also be attributed to sepsis and coagulopathies [1][2][3][4].…”

“…It occurs mostly due to intrauterine compression by amniotic bands, oligohydramnios, or umbilical cord compression. It may also occur due to embolization from infarcted placental parts, hyperviscosity due to polycythemia, or thrombosis due to inherited thrombophilia [2][3][4][5][6][7][8]. Usually, affected newborn presents with pallor, cyanosis, swelling, coldness, macerations, absent peripheral pulses, prolonged capillary refill time (CTR), and possibly necrosis of the involved limb during the first hours of life.…”

“…Intrauterine limb ischemia is considered very rare with a limited number of cases being reported in the literature [1][2][3][4]. Overall congenital upper limb circulatory de ciency can a ect approximately 7 out of every 10000 births [5].…”

“…Overall congenital upper limb circulatory de ciency can a ect approximately 7 out of every 10000 births [5]. It must be discovered and dealt with promptly in order to preserve limb function and restore perfusion as it may lead to limb amputation in many cases [4,6].…”

“…Intrauterine limb ischemia must be di erentiated from neonatal limb ischemia, which occurs after birth mostly due to catheterization, sepsis, or coagulopathy [1][2][3][4]. On the other hand, intrauterine upper limb ischemia may result due to intrauterine compression by amniotic bands, oligohydramnios, mal-presentation of the fetus with limb prolapse and umbilical cord entanglement, or as a result of thromboembolic events due to embolization from infarcted placental parts or thrombosis due to coagulopathies [2][3][4][5][6][7][8].…”