Perinatal onset of severe congenital erythropoietic porphyria

Female full-term (39 weeks’ gestation) neonate born of non-consanguineous healthy young white couple is admitted to neonatal intensive care unit with an acute respiratory distress syndrome. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and a myocardial hypertrophy. The antenatal explorations found no aetiology (fetal DNA was analysed by comparative genomic hybridisation-array platform). At birth, she had multiple ecchymosis all over her body, her skin coloration was grey (figure 1) and her urine reddish (figure 2). Initial laboratory data demonstrated pancytopenia, high serum lactate dehydrogenase and ferritinemia and an abnormal liver function (cytolysis, cholestasis). As primitive macrophage activation syndrome was suspected, a bone marrow biopsy was performed to complete the investigations. The aspirate showed dark red inclusions corresponding to porphyrin deposits. Elevated urinary, plasmatic and erythrocytic porphyria levels confirmed the diagnosis of congenital erythropoietic porphyria (CEP) and genetics demonstrated a homozygous...

Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - February 17, 2023 Category: Perinatology & Neonatology Authors: Khalouaoui, A., Piarroux, J., Sorin, G., Oger, M., Nicaise, C., Tosello, B. Tags: Images in neonatal medicine Source Type: research