Marina Moura Toscano, Flavia Fernandes Cintra, Ludmila Oliveira Resende, Paula Casteleti, Lucas Hirano Arruda Moraes, Maria Cecilia da Matta Rivitti-Machado, Marcello Menta Simonsen Nico, Juliana Zoboli Del Bigio, Werther Brunow de Carvalho
A male infant presented with progressive jaundice immediately after birth. Fecal acholia and choluria associated with extensive bullous skin lesions in his trunk, abdomen, and upper and lower limbs developed during phototherapy. Several diagnostic hypotheses were presented, including neonatal porphyria, hemochromatosis, Alagille syndrome, and neonatal lupus. A 24-hour urine sample for the dosage of urinary porphyrins was collected, showing high results (1823.6µg in 100mL). At 50 days of life, fluorescence spectroscopy using a Wood's lamp revealed simultaneous bright red fluorescence of urine-stained diapers and sample blood...
2023: Einstein