Introduction: Less than 3% of porhpyhia cases affect children and CEP is the most severe.Case report: We report a case of a 21‐year‐old second digravida whose first pregnancy terminated with intrauterine death in the 27th week of gestation due to hydrops fetalis, cause unknown. The pathologist found organ infiltration with blastic blood elements. The patient was referred to our unit in the 25th week of the second pregnancy with oligohydramnion, ascites, hepatosplenomegaly, and generalized hydrops. The mother was AB Rh‐positive, with negative results for irregular antibodies, CMV, toxoplasmosis, and parvovirus B19. The initial cordocentesis showed severe anemia (Hct 7.7, Hgb 27, RBC 0.89, WBC 2.3, Plt 72), fetal karyotype: 46XY. Virologic examination, direct Coombs test, and amniotic fluid culture were negative. We treated the anemia with five intrauterine transfusions of O Rh‐negative erythrocyte concentrate. In the 25th week the Hgb was 59, during treatment it reached 91 (week 26), 120 (week 27), 134 (week 28), 114 (week 31), and 119 in the 33rd week, respectively. A male fetus was delivered in the 33rd week, with sanguineous amniotic fluid, birth weight 2370 g, APGAR 6‐7‐8, and arterial blood pH 7.25. The newborn had hepatosplenomegaly, anemia, and skin suffusions. Mild RDS was stabilized with nCPAP. From the fourth day, there was macroscopic hematuria. The treatment of renal failure was successful, the skin changes remained as the dominating sign. Eighteen days postpartum the diagnosis of congenital erythroid porphyria (autosomal recessive) was established based on the skin excoriation and urine examination for porphyrins.Discussion: This rare case of ascites, anemia and thrombocytopenia was diagnosed postnatally, but symptomatic treatment enabled the delivery of a fetus that could be successfully treated postnatally with umbilical blood transfusion.Conclusion: In all cases of unexplained ascites or hydrops the possibility of CEP should be considered.
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