Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses.

Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.

Prenatal diagnosis of fetal tail and postabortum anatomical description.

Fetal ultrasound examination at 13 weeks of gestation demonstrated a homogeneously echogenic protrusion, or tail, 7 mm in length, in the sacral region. At 15 weeks, the ultrasound appearance was consistent with a regression of the tail and by 21 weeks it had completely disappeared. Severe intrauterine growth restriction with reduced uterine blood flow was diagnosed at 21 weeks and intrauterine death occurred at 24 weeks of gestation. Postmortem examination revealed a 4-mm caudal appendage which contained no vertebrae on radiography. The appendage was located under and behind the last sacral vertebra suggesting a true vestigial tail with a delayed process of regression.

Allergic rhinitis to thuja pollen.

Allergy to pollen of Cupressaceae has been linked to pollens of Cupressus, Juniper and Cryptomeria. The authors report 2 cases of rhinitis and conjunctivitis induced by thuja, another member of the Cupressaceae family. Monosensitization to thuja pollen has been identified as the causal agent: (1) of a long-standing springtime rhinitis in 1 patient with negative skin tests and specific IgE titers to the main inhalants (specificity of the prick test and nasal provocation with the thuja extract was confirmed by a positive RAST) and (2) in a 2nd patient without former history of allergy, who consulted for conjunctivitis following acquisition of a dog; the standard battery of skin tests, and Phadiotop were all negative. After controls, only the thuja extract gave significant skin test response. The level of total IgE was low, and RAST was negative. Sensitization and pollen provocation were produced by the intermediary of the dog, carrying thuja pollens on its fur. The immunoprint and the crossed radioimmunoelectrophoresis revealed common antigenicity between cypress and thuja extracts.

[Genital bilharziasis and female infertility. Review of the literature and three case reports]. / Bilharziose genitale et sterilite feminine. Analyse de la litterature a propos de trois observations.

Genital schistosomiasis is an uncommon disease. Its responsibility in female infertility is controversial. We reported 3 cases of pelvic schistosomiasis and we debate about the pathogenic contribution of the bilharziosis in sterility.