Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A newborn infant with hemolytic anemia and hepatosplenomegaly was treated by phototherapy for early jaundice. After 18 h, a dark brown pigmentation of the skin was noticed, leading to the assumption of a bronze baby syndrome. Indeed, the child was suffering from a severe disturbance of liver function. 4 days later, a severe bullous dermatosis with blody imbibition developed, covering all exposed parts of the body surface and reoccurring in many bursts over several weeks despite protection against light. A severe hemolytic anemia was constantly present. The baby died on the 50th day. The diagnosis of erythropoietic porphyria was suggested immediately after the onset of the bullous exanthema and proved by laboratory data as follows: uro- and coproporphyrin in the urine were extremely high, uroporphyrin being mainly of type-I isomer. In red cells, increased amounts of uro-, copro- and protoporphyrins were detected. Massive red fluorescence of erythroblasts (so-called porphyroblasts) in the bone marrow and in the blood could be observed. At autopsy, the liver showed multiple blood-forming areas and severe diffuse hemosiderosis, which is to be explained by a long existing, i.e. fetal hemolysis. Erythropoietic porphyria is such a rare disease that there is no reason to consider it as a general contraindication for phototherapy.
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PMID:[Severe light dermatosis following photo therapy in a newborn infant with congenital erythropoietic urophyria]. 109 56