CASE 122
By: Dr. Nizar Al-Nakshabandi MD, FRCPC
HISTORY: 48-year-old male with gradual onset of deafness and blindness. Previous history of multiple repeated fractures.
What are your findings?
What is the differential diagnosis?
What are the causes?
FINDINGS:
Chest x-ray and rib views [A], bilateral hand views [B], lateral skull view [C], and AP pelvis [D] demonstrate generalized increased bone density of the bone with the classical bone within bone appearance. Thickening of the endplates is seen in AP pelvis, and on the bone mineral density [BMI[ study giving the sandwich vertebra appearance. The bone marrow density [E] demonstrates almost off the charts increase in the bone marrow density. An old fracture with deformity of the left second metacarpophalangeal and PIP joint is noted on the AP radiographs of both hands [B].
DIFFERENTIAL DIAGNOSIS:
· Autosomal dominant osteopetrosis.
· Fluorosis.
· Melorheostosis.
· Renal osteodystrophy.
· In the skull think of fibrodysplasia of the skull.
· Hypovitaminosis D.
· Lead poisoning.
· Pyknodysostosis.
DIAGNOSIS.:
Autosomal dominant osteopetrosis.
PEARLS AND DISCUSSION:
Autosomal dominant osteopetrosis occurs in adults and is relatively benign. It is less aggressive than the autosomal recessive type which appears in children. These patients are usually present with multiple fractures, cranial nerve palsies from cranial compression. Hepatosplenomegaly occurs from extramedullary hematopoiesis.
The disease appears due to a deficiency of OSTEOCLASTS. Patient is usually treated with bone marrow transplantation.
FURTHER READING:
1. Bollerslev J, Mosekilde L. Autosomal dominant osteopetrosis. Clin. Orthop. Relat. Res. 1993; (294): 45-51.
2. Vanhoenacker FM, De Beuckeleer LH, Van Hul W, et al. Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 2000;10(9):1423–1433
3. Lauren L, Forrester D, Gottsegen C et al sclerosing bone dysplasia: Review and differential from other causes of osseous sclerosis. Radiographics 2011; 31 [7]:
