Congenital erythropoietic porphyria

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.


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(per page)
PMID (PMCID)
28899405
(5596485)
 MALE Infant, Newborn
Neonatal hemolytic anemia does not always indicate thalassemia: a case report.
Al-Harazi AA, Al-Eryani BM, Al-Sharafi BA.
BMC Res Notes. 2017;10(1):476.
Here, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22months after being exposed to sunlight).
23612387
 MALE Infant
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
Pandey M, Mukherjee SB, Patra B, Kapoor S, Ged C, Aneja S, Seth A.
J Pediatr Hematol Oncol. 2013;35(4):e167-70.
Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria.