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Case of the Month

October 2006

Patient Data: 12 year old boy

Clinical Info: Jaundice and abdominal pain.


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Longitudinal image of the gallbladder with gallstones.


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Transverse image of the gallbladder with gallstones.


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Longitudinal image of the bile ducts without dilatation.


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Transverse image of the normal pancreas. With the information so far, do you think the jaundice is caused by obstruction caused by gallstones?


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Longitudinal image of the spleen of the boy. It is too large for an exact measurement.


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Longitudinal image of the spleen and left kidney. The spleen is much larger than the kidney.


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Transverse image of the left kidney and enlarged spleen.

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

For more gallstones in children see also:

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

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