Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses

Congenital erythropoietic porphyria is an autosomal recessive disease chara cterized by a deficiency of uroporphyrinogen III cosynthetase activity, wit h diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Cauc asian nonconsanguinous family. The first fetus died in utero with hydrops f etalis and anemia, but without an etiopathogenic diagnosis. In the second c ase, the diagnosis was based on pink fluorescence of the amniotic fluid exa mined fortuitously in sunlight. DNA analysis showed that the fetus was hete roallelic for the mutation C73R. The autopsy showed brown skin, and at hist ological examination, porphyrin pigment was deposited in many tissues. Retr ospectively, similar deposits were found in the tissues of the first fetus.