Osteogenesis imperfecta

Case contributed by Matthew Kaluza

Presentation

A 35-year-old female with osteogenesis imperfecta status post colostomy presents with signs of sepsis and elevated bilirubin. Contrast CT was performed to locate the source.

Patient Data

Age: 35 years
Gender: Female
CT

The ribcage was found to be severely deformed with increased anteroposterior dimension and diminished posterior transverse dimension. Ribs are gracile with chronic fractures. The gallbladder is contracted and the common bile duct is dilated at 1.3 cm. There is a right renal midpole nonobstructive stone. The uterus is displaced to the left and there are multiple follicles in both ovaries. The patient was found to have a large peristomal hernia containing fat and numerous loops of small bowel. Other findings include severe scoliosis, degenerative changes in both hips and rods in both femurs.

Case Discussion

Patients with osteogenesis imperfecta (OI) have higher rates of mortality than the general population. They have a higher risk of death from respiratory disease, gastrointestinal disease and trauma. Depending on the type of OI, they can live well into their seventies 1.

 

 

The patient was found to have a large gallstone obstructing the common bile duct. The duct was temporarily stented by ERCP and she was transferred to the ICU for recovery.

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Case information

rID: 60245
Published: 14th May 2018
Last edited: 16th Jul 2018
Inclusion in quiz mode: Included

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