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Your search keyword '"Poinsot, J."' showing total 2 results
Start Over Author "Poinsot, J." Topic anemia, hemolytic, congenital
2 results on '"Poinsot, J."'

1. [Neonatal hemolytic anemia after intra-amniotic injection of methylene blue].

Author

Poinsot J, Guillois B, Margis D, Carlhant D, Boog G, and Alix D

Subjects
Adolescent, Adult, Amnion, Female, Humans, Infant, Newborn, Injections, Male, Methemoglobinemia etiology, Pregnancy, Anemia, Hemolytic, Congenital chemically induced, Methylene Blue poisoning
Abstract

The authors report two cases of neonatal hemolytic anemia without methemoglobinemia secondary to intraamniotic injection of 10 mg of methylene blue. Evolution was favourable without exchange transfusion. This emphasizes the importance of searching for a toxic origin in case of neonatal hemolytic anemia without apparent cause.

Published
1988

2. [A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis].

Author

Poinsot J, Parent P, Alix D, Toudic L, and Castel Y

Subjects
Anemia, Hemolytic, Congenital diagnosis, Anemia, Hemolytic, Congenital enzymology, Female, Humans, Infant, Neuromuscular Diseases etiology, Pedigree, Pregnancy, Prenatal Diagnosis, Anemia, Hemolytic, Congenital genetics, Carbohydrate Epimerases deficiency, Triose-Phosphate Isomerase deficiency
Abstract

Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.

Published
1986

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