Congenital hepatic fibrosis: a very uncommon cause of pancytopenia in children.
The disease presentation of autosomal recessive polycystic kidney disease (OMIM #263200, ARPKD) is highly variable and includes polycystic kidneys, pulmonary hypoplasia, and congenital hepatic fibrosis. The authors report an unusual case of ARPKD presenting with hepatosplenomegaly and cytopenia mimicking acute leukemia.
Trizzino
Antonino
A
Onco Ematologia Pediatrica, Ospedale dei Bambini G. Di Cristina, Palermo, Italy. triznino@hotmail.com
Farruggia
Piero
P
Russo
Delia
D
D'Angelo
Paolo
P
Tropia
Serena
S
Benigno
Vincenzo
V
Tarantino
Giuseppe
G
Di       Marco
Vito
V
Aricò
Maurizio
M
D000293:Adolescent; D006529:Hepatomegaly / Q000175:diagnosis*; D006801:Humans; D008103:Liver Cirrhosis / Q000151:congenital*; D008297:Male; D010198:Pancytopenia / Q000175:diagnosis*; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis*; D013163:Splenomegaly / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed