CASE 77

By: Dr. Amna Kashgari MD,SSC-Rad

HISTORY: A 3-year-old girl with chronic anemia.

What are your findings?

What is your differential diagnosis?

What is your most likely diagnosis?

What are the complication?

FINDINGS:

Plain radiograph of the chest X-ray (A) demonstrates sclerotic ribs and clavicles with homogeneously increased density and no trabeculations or cortico-medullary differentiation.

Plain radiograph of the pelvis (B) reveals flaring and elongation of the distal femoral metaphysis (Erlenmeyer flask type deformity) and proximal metaphysis of the tibia bilaterally, with increased density of the bone along with obliteration of medullary cavity. Multiple alternating dense and radiolucent transverse lines in the metaphysis noted. In addition, old healed fracture of proximal shaft of left femur identified.

DIFFERENTIAL DIAGNOSIS:

• Osteopetrosis.

• Hypervitaminosis D.

• Pyknodysostosis.

• Heavy metal poisoning (Lead).

DIAGNOSIS:

Infantile Osteopetrosis.

Complication:

• Fracture.

• Myelopathic anemia.

• Extramedullary hematopoiesis with splenomegaly.

• Cranial neuropathies.

• Acute leukemia.

PEARLS AND DISSCUSION:

Osteopetrosis “marble bone disease” is one of the must know bone dysplasia. It results from defective osteoclast function with failure of proper reabsorption produces weak sclerotic bone.

Four forms of the disease identified:

• Autosomal dominant benign form – adult.

• Autosomal recessive severe malignant form – infant.

• Recessive type intermediate form.

• Recessive type with renal tubular acidosis (also known as carbonic anhydrase II deficiency syndrome).

Prognosis of sever form: survival beyond middle age is uncommon (death due to recurrent infection, massive hemorrhage, terminal leukemia).

Treatment: bone marrow transplant.

FURTHER READING:

1. Lane F Donnelly. Fundamental of pediatric radiology. ISBN-13: 978-0721690612

2. Johan G Blickman, Bruce R Parker, Patrick D Barnes. Pediatric Radiology: The Requisites, 3e. ISBN-10: 0323031250