Renal failure due to renal vein thrombosis in a fetus with growth restriction and thrombophilia.

We report a case of renal vein thrombosis diagnosed at 27 weeks of gestation in a dichorionic twin pregnancy. The left kidney of one fetus was hyperechoic and enlarged with echoic streaks following the direction of interlobular veins and the loss of corticomedullary differentiation. In the following weeks, left kidney became smaller and echoic, and Doppler examination showed no flow in both artery and vein. The right kidney had totally normal appearance in the beginning, but it became enlarged and hyperechoic, and progressed into a small echoic kidney with no flow in artery and vein. In the postnatal ultrasound examination, both kidneys appeared hyperechoic with no vascularization in the hilum region. There was thrombosis in arteries and veins of both kidneys, as well as in the inferior vena cava. The investigation for thrombophilia resulted with the combined presence of heterozygote mutation in factor V Leiden and prothrombin 20210 genes.

Prenatal diagnosis of cerebral lesions acquired in utero and with a late appearance.

Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in many of these cases. However, the findings may be subtle, particularly in the early stage of the disruptive process. Identification of these conditions requires therefore specific expertise, the combination of fetal neurosonography and magnetic resonance, and frequently there is a need for serial examinations. Targeted diagnostic imaging should be offered to obstetric patients with conditions predisposing to prenatal cerebral insults.

Prenatal thrombosis of torcular Herophili with spontaneous resolution and normal outcome.

BACKGROUND: Prenatal thrombosis of torcular Herophili is a rare condition. It may be suspected during the routine ultrasonographic follow-up of the fetus, but MRI is necessary to establish the diagnosis. There are 7 reported cases with various results. METHODS: We report a case of prenatal torcular Herophili thrombosis. We present 2 series of fetal MRIs. The first one was performed at 21 and the second at 37 weeks' gestation. RESULTS: The second MRI revealed a total resolution of the thrombus. The product was a neurologically intact infant with normal development. CONCLUSIONS: This is the fourth reported case of fetal torcular Herophili thrombosis with normal outcome. There are no sufficient data regarding the best management of this rare condition; however, following up with fetal MRIs seems to be the most rational choice.

Cerebral hypoperfusion increases estrogen receptor abundance in the ovine fetal brain and pituitary.

BACKGROUND/AIMS: Estrogen is an important component of fetal neuroendocrine function in late-gestation fetal sheep; however, little is known about the regulation of estrogen receptor abundance in the brain and pituitary of fetuses. The present study was performed to test the hypotheses that estrogen receptor abundance in the fetal brain and pituitary are influenced by circulating estradiol concentrations and that they are acutely regulated after cerebral hypoperfusion. METHODS: We studied 16 time-dated fetal sheep (124-128 days gestation) that were chronically catheterized and instrumented at least 5 days before study. Four groups (n = 4 each) were studied in which fetuses received estradiol (0.25 mg/day, producing physiological increases in fetal plasma estradiol concentrations) or placebo implants, and in which fetuses received a 10-min period of brachiocephalic occlusion (BCO) or sham-BCO. One hour after BCO or sham-BCO, fetuses were euthanized and tissues rapidly removed for analysis of estrogen receptors (ER)-alpha and -beta at the mRNA and protein levels. RESULTS: Both BCO and estradiol treatment were effective in changing ER expression, although the effects were region-specific. BCO dramatically increased ER-alpha in the pituitary and both ER-alpha and ER-beta in the brainstem, while decreasing ER-alpha expression in the hypothalamus. Estradiol treatment decreased ER-alpha expression in the hypothalamus, whereas it increased ER-alpha expression in the brainstem, cerebral cortex and hippocampus. CONCLUSIONS: We conclude that the expression of ER-alpha and ER-beta in the brain and pituitary of fetal sheep are influenced by circulating estrogen concentrations and acutely regulated in response to cerebral hypoperfusion.

Perinatal renal venous thrombosis: presenting renal length predicts outcome.

BACKGROUND: Renal venous thrombosis (RVT) is the most common form of venous thrombosis in neonates, causing both acute and long term kidney dysfunction. Historical predisposing factors include dehydration, maternal diabetes, and umbilical catheters, but recent reports highlight associations with prothrombotic abnormalities. STUDY: Twenty three patients with neonatal RVT were analysed over 15 years. Predisposing factors, presentation, and procoagulant status were compared with renal outcome using multilevel modelling. RESULTS: Median presentation was on day 1: 19/23 (83%) had pre/perinatal problems, including fetal distress (14), intrauterine growth retardation (five), and pre-identified renal abnormalities (two); 8/18 (44%) had procoagulant abnormalities, particularly factor V Leiden mutations (4/18). Long term abnormalities were detected in 28/34 (82%) affected kidneys; mean glomerular filtration rate was 93.6 versus 70.2 ml/min/1.73 m2 in unilateral versus bilateral cases (difference 23.4; 95% confidence interval 6.4 to 40.4; p = 0.01). No correlation was observed between procoagulant tendencies and outcome, but presenting renal length had a significant negative correlation: mean fall in estimated single kidney glomerular filtration rate was 3 ml/min/1.73 m2 (95% confidence interval 3.7 to -2.2; p = 0.001) per 1 mm increase, and kidneys larger than 6 cm at presentation never had a normal outcome. CONCLUSIONS: This subgroup of neonatal RVT would be better termed perinatal RVT to reflect antenatal and birth related antecedents. Prothrombotic defects should be considered in all patients with perinatal RVT. Kidney length at presentation correlated negatively with renal outcome. The latter, novel observation raises the question of whether larger organs should be treated more aggressively in future.

Normal outcome after prenatal diagnosis of thrombosis of the torcular Herophili.

We report a case of prenatal diagnosis of thrombosis of the torcular Herophili. Detection at 22 weeks' gestation by ultrasound scan of an anechoic mass located immediately above the tentorium led to magnetic resonance imaging (MRI) being performed at 28 weeks which established the diagnosis of an isolated thrombosis of the torcular Herophili. MRI remained stable throughout pregnancy, and postnatal MRI confirmed the diagnosis at 2.5 months of age. The child is now 16 months old and developing normally.