A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria.

PNEUMONIA; ERYTHROPOIETIC porphyria; ERYTHEMA; ACUTE diseases; PHOTOSENSITIVITY disorders; SKIN diseases; RESPIRATORY insufficiency; MAGNETIC resonance imaging; TREATMENT effectiveness; PHOTOTHERAPY; HOSPITAL care of newborn infants; MUSCLE hypotonia; INTRAVENOUS therapy; INFANT nutrition; NOSOCOMIAL infections; ARTIFICIAL respiration; GENETIC disorders; LIVER failure; PORPHYRINS; DISEASE complications; CHILDREN

Protoporphyria is a subtype of porphyria characterized primarily by painful phototoxic skin reactions after light exposure at specific wavelengths. Historically, phototherapy is not contraindicated in patients with protoporphyria since there have not been any reports of phototoxic reactions. However, patients with protoporphyria are advised to avoid direct sunlight. In this case report, we describe a neonate not known to have X-linked protoporphyria who received phototherapy for 1 to 2 hours. Within hours after initiation of phototherapy, this neonate developed a life-threatening reaction consisting of rash over the distribution of phototherapy, acute liver failure with coagulopathy, diffuse hypotonia with diaphragmatic failure, and subsequent acute respiratory failure that required mechanical ventilation. As in this case, patients with protoporphyria-related acute liver failure can have signs and symptoms similar to that of an acute hepatic porphyria attack. Neither neonatal reactions to phototherapy nor liver failure temporally associated with phototherapy have been reported in patients with X-linked protoporphyria. Early recognition of this entity is crucial in light of potential life-threatening complications. Therefore, providers must react quickly when neonates have abnormal reactions to phototherapy and consider protoporphyria in the differential diagnosis. [ABSTRACT FROM AUTHOR]