Hereditary spherocytosis

Discussion:

Our 13 year-old patient was diagnosed with hereditary spherocytosis (HS) at 11 years of age and found to have hepatosplenomegaly and cholelithiasis. He presented with diffuse intermittent abdominal pain, which may be attributed to biliary sludge and gallstones.

The average age of diagnosis of HS is approximately 7 years old. However, HS can present at any age and with any severity, ranging from hydrops fetalis in utero to presenting for the first time in the ninth decade of life.

The most common findings in pediatric patients (ages 0-18 years) with HS include: pallor (100%), splenomegaly (96%), hepatomegaly (73%), icterus (67%), undocumented fever (28%), and cholelithiasis (pigment stones as seen in all hemolytic diseases) (26%). 

This case was submitted with supervision and input from:

Soni C Chawla, M.D.
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center

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