Jaundice and abdominal pain.
Gallstones in children are uncommon and often associated with other abnormalities or is medication induced. Can you think of an abnormality that explains the gallstones the jaundice and spenomegaly?
The boy has hereditary spherocytosis. Hereditary spherocytosis is a congenital haemolytic anaemia due to a defect in spectrin-a RBC membrane protein. Due to this defect there is presence of characteristic spherical cells in peripheral blood smears and the osmotic fragility is increased.
Hereditary spherocytosis is in 75 % of the cases autosomal dominant.
Among the features are
. Jaundice
. Haemolytic anaemia
. Reticulocytosis,
. The formation of bilirubin stones in the gallbladder
. Splenmegaly
References
Tamary H, Aviner S, Freud E, Miskin H, Krasnov T, Schwarz M, Yaniv I
High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis.
J Pediatr Hematol Oncol. 2003 Dec;25(12):952-4
del Giudice EM, Perrotta S, Nobili B, Specchia C, d'Urzo G, Iolascon A.
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis.
Blood. 1999 Oct 1;94(7):2259-62
Dr. Taco Geertsma is the founder of UltrasoundCases.info and a retired radiologist and has worked in the Gelderse Vallei hospital from January 1, 1983. till July 1, 2014. He was the head of the ultrasound department for many years.
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