Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

Congenital erythropoietic porphyria (CEP) or Günther's disease is the rarest form of the porphyrias. The disease is usually diagnosed at birth or during early infancy, but rarely in utero. We describe here the first two cases of very early prenatal expression of CEP with cystic hygroma diagnosed at 14 weeks in the first fetus and at 19 weeks in the second. Both fetuses presented with severe nonimmune hydrops fetalis as early as 19 and 22 weeks, associated with intrauterine growth retardation, hyperechogenic kidneys and bones. Amniotic fluid was dark brown and uro- and coproporphyrin I was dramatically increased. Molecular screening of the CEP gene detected heterozygous C73R mutation in both fetuses, the other parental mutation being as yet unknown. Copyright © 2002 John Wiley & Sons, Ltd.     

Limb Deformities as an Emerging Parasitic Disease in Amphibians: Evidence from Museum Specimens and Resurvey Data

Abstract:   Widespread reports of malformed amphibians are of growing conservation concern. Although accounts of mass malformations (>5%) in North American amphibian populations date back to the 1940s, they are often poorly documented and are rarely explained. We reviewed available information for nine historical accounts from California, Colorado, Idaho, Mississippi, Montana, Ohio, and Texas reported between 1946 and 1988. We then asked the following questions: (1) Which of these cases were associated with Ribeiroia (Trematoda: Digenea) infection? (2) Are malformations still occurring at these sites? And (3) if so, have the frequency or types of abnormalities changed? Each site was resurveyed between 1999 and 2002, and original voucher specimens were redescribed and examined for trematode infection. Direct identification and classification by discriminant function analysis indicated that historical malformations at six of eight sites were associated with infection by Ribeiroia , dating back as far as 1946. Malformations recorded historically at these sites were consistent with the documented effects of Ribeiroia infection, including extra limbs, cutaneous fusion, and bony triangles. Of the six sites that still supported amphibians upon resurvey, three continued to support severe limb malformations at frequencies of 7–50% in one or more species. Although no pesticides were detected, amphibians from each of these sites were infected with Ribeiroia metacercariae. Taken together, these results suggest that Ribeiroia infection has historically been an important cause of mass malformations in amphibians. We conclude that although parasite-induced malformations are not a new phenomenon, there is qualitative evidence suggesting that their prevalence has increased recently, and we highlight the need for long-term research to evaluate the impacts of malformations on amphibian population viability.     

Antenatal detection of a single umbilical artery: does it matter?

The presence of a single umbilical artery is recognised as a soft marker for congenital anomalies, aneuploidy, earlier delivery and low birthweight. Most of the available data are derived from case series or highly selected populations and are therefore likely to be unrepresentative. In this retrospective case-comparison study, we firstly aimed to determine the incidence of a single umbilical artery in an unselected population and secondly to examine the clinical significance of this soft marker. Over a 40-month period, 107 cases were identified from a cohort of 35 066 births giving an incidence of 3.1 per 1000 total births and late pregnancy losses. The antenatal detection rate was only 30%. Compared to fetuses with normal cord vasculature, fetuses with a single umbilical artery were more likely to be delivered at an earlier gestation and to weigh less, were 1.7 times more likely to be delivered by a Caesarean section and 19% of the cases had a congenital anomaly. The perinatal mortality was 49.0 per 1000 total births, which was 6 times higher than the background hospital rate. The presence of a single umbilical artery is associated with a poorer perinatal outcome compared to that in fetuses with three vessels in the cord. Unfortunately, the antenatal detection rate is poor. Recognising the importance of this soft marker in counselling and management of pregnancies should provide the stimulus to improve detection rates. Copyright © 2003 John Wiley & Sons, Ltd.