Hereditary spherocytosis

Case contributed by Dustin Roberts

Presentation

Jaundice, fatigue, and intermittent abdominal pain

Patient Data

Age: 13 years
Gender: Male
X-ray

Abdominal supine exam demonstrates mild hepatomegaly, mild-to-moderate splenomegaly, and a gallstone with a dense rim.
Nonobstructive bowel gas pattern.
Clear lung bases.
No osseous anomaly.

X-ray

Abdominal supine exam demonstrates mild hepatomegaly (blue arrows), mild-to-moderate splenomegaly (white arrows), and a gallstone with a dense rim (red arrow).

Ultrasound

The right lobe of the liver measures approximately 15 cm in the maximum length, and is mildly enlarged.
The liver demonstrates a "starry sky" appearance without obvious intrahepatic biliary dilatation. 
The spleen measures 14 cm in length, and is mildly enlarged. 
The gallbladder demonstrates multiple gallstones of varying sizes and biliary sludge. 4.9 mm sized gallstone with an echogenic rim and central lucency is visualized.

Case 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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Case information

rID: 61368
Published: 7th Jul 2018
Last edited: 25th Mar 2019
Inclusion in quiz mode: Included
Institution: David Geffen School of Medicine

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