BIOCHEMICAL-DIAGNOSIS OF A FATAL CASE OF GUNTHER DISEASE IN A NEWBORNWITH HYDROPS-FETALIS

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemi a. Two in utero transfusions for correction of the anaemia were perfor med at 28 and 29 weeks, respectively. The baby rapidly presented respi ratory distress with mixed acidosis. Three hours after birth, pink uri ne was excreted. Signs of icterus necessitated phototherapy, after whi ch photosensitivity occurred. Erythrocytes were fluorescent under long -wavelength UV light. The baby died 24 hours after birth, displaying s evere acidosis, a diffuse haemorrhagic syndrome, and repeated bradycar dia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and fa eces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, pla sma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in u rine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed t hat both parents possessed only 50% of the normal activity of cosyntha se. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Gunther's disease are extremely ra re and such an observation, according to our knowledge, is probably on e of the first described.