Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Limb ischemia rarely occurs in utero. The diagnosis can be made by clinical observation at birth or a few hours later. Color duplex ultrasound is the first imaging test used to confirm the diagnosis. The etiology appears to be complex and multifactorial. We report 2 cases of intrauterine limb ischemia involving the upper limb in 2 newborns. Both children were heterozygous for the 5,10-methylenetetrahydrofolate reductase 677C>T gene variant. The first patient was born by caesarean section at 34 weeks of gestation. At delivery, the infant presented with pallor in his right upper limb and weak radial arterial pulsation. Doppler ultrasound and computed tomography angiography demonstrated a totally occlusive thrombus within the right brachial artery. The newborn underwent systemic thrombolysis with good recovery. The second patient was born via cesarean section at 37 weeks of gestation. At delivery, the infant presented with a motionless, cold, and gangrenous right upper limb. The demarcation line was just below the right elbow. Doppler ultrasound revealed a complete occlusion of the right subclavian artery. After failure of antithrombotic therapy, the limb was amputated with no further complication. We discuss the epidemiology, etiology, and clinical features of this rare pathology.
 ...
PMID:[Intrauterine upper limb ischemia due to a heterozygous mutation (677C>T) of the methylene-tetrahydrofolatereductase gene]. 2433 83