Acute calculous cholecystitis in patient with osteopetrosis

Case contributed by Dr Dalia Ibrahim

Presentation

Presented to ER with acute right hypochondrial pain and vomiting.

Patient Data

Age: 25 years
Gender: Female

The gallbladder is distended showing a large radiodense stone within its neck, associated with diffuse mural thickening and enhancement. Mild pericholecystic fluid and fat plane smudging is also noted. This is impressive of "acute calculous cholecystitis"

Hepatosplenomegaly.

Widespread bone thickening and dense osteosclerosis showing the classical bone within a bone. Bilateral pathological fractures of the ribs, both femoral necks, right femoral shaft, L4, and L5 pars interarticularis.

Erlenmeyer flask type deformity of both femora.

Case Discussion

The patient was known as "autosomal dominant osteopetrosis" which explains the patient's survival to adulthood. Autosomal dominant osteopetrosis is the less severe type of osteopetrosis.

Here, in this case, there are typical features of osteopetrosis, such as:

  • Diffuse thickening and sclerosis of the examined bones with the typical "bone within a bone" appearance and "sandwich vertebrae".
  • Pathological fractures of the ribs, both femora, L4 & L5 pars.
  • Hepatosplenomegaly is secondary to extramedullary hematopoiesis.

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