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

• Published in: Prenatal diagnosis Vol. 23; no. 1; pp. 25 - 30
• Main Authors: Pannier, E., Viot, G., Aubry, M. C., Grange, G., Tantau, J., Fallet-Bianco, C., Muller, F., Cabrol, D.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.01.2003; Wiley
• Subjects: Abortion, Eugenic; Adult; Amniocentesis; Amniotic Fluid - chemistry; Biological and medical sciences; congenital erythropoietic porphyria; Coproporphyrins - analysis; Female; Fetal Diseases - diagnostic imaging; Fetal Growth Retardation - diagnostic imaging; Fetal Growth Retardation - etiology; Gestational Age; Gynecology. Andrology. Obstetrics; Head and Neck Neoplasms - complications; Head and Neck Neoplasms - diagnosis; Heterozygote; Humans; Hydrops Fetalis - diagnostic imaging; Hydrops Fetalis - etiology; Kidney Diseases - diagnostic imaging; Kidney Diseases - etiology; Lymphangioma, Cystic - complications; Lymphangioma, Cystic - diagnosis; Management. Prenatal diagnosis; Medical sciences; Metabolic diseases; Mutation; nonimmune hydrops fetalis; nuchal cystic hygroma; Other metabolic disorders; phenotype-genotype correlation; Pigments (porphyrias, hyperbilirubinemias...); Porphyria, Erythropoietic - complications; Porphyria, Erythropoietic - diagnosis; Porphyria, Erythropoietic - genetics; Pregnancy; Pregnancy. Fetus. Placenta; prenatal diagnosis; Ultrasonography, Prenatal; Uroporphyrins - analysis; France; Europe; Bullous dermatosis; Skin disease; Pregnancy disorders; Cardiovascular disease; Hemopathy; Gunther congenital porphyria; Enzymopathy; Prenatal; Fetal diseases; Histopathology; Cystic lymphangioma; Pigments; Fetus; Benign neoplasm; Diagnosis; Sonography; Human; Radiodiagnosis; Erythropoietic porphyria; Metabolic diseases; Genotype; Congenital disease; Lymphatic vessel disease; Genetic disease; Case study; Pathology; Malformation; Hydrops fetalis; Echography
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.491

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.