Osteopetrosis in a Domestic Shorthair Cat

Abstract

The purpose of this case report was to describe a cat with generalized bone dysplasia, resembling osteopetrosis and Albers-Schönberg disease in humans. A 1-year-3-month-old, intact male, domestic shorthair cat had a 9-month history of multiple bone fractures without known trauma. Most fractures were treated conservatively and two by osteosynthesis. Bone healing occurred but recurring fractures eventually led to euthanasia. Radiographs, computed tomographic imaging, postmortem analysis and histopathologic examination revealed a generalized increase in bone density and mass with preservation of bone shape, obliteration of the bone marrow cavity and persistence of cartilage and primary trabeculae. Abuse and secondary bone diseases were excluded. History, diagnostic bloodwork, radiographs, computed tomographic imaging and histopathologic examination supported the diagnosis of inherited osteopetrosis and strongly resembled Albers-Schönberg disease in humans. The presence of osteoclasts suggested that the underlying pathology might be found in osteoclast dysfunction, deficient number of osteoclasts, inadequate recruitment of osteoclasts, or other micro environmental changes. In (young) cats that are presented with recurring fractures and the possible suspicion of abuse, inherited osteopetrosis should be considered as a differential diagnosis.

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

“…Mice that lack the b3 subunit of the vitronectin receptor may create osteoclasts, but over time, due to osteoclast malfunction, they develop osteopetrotic bones. The osteoclast's resorptive organelle, the ruffled border, is created when intracellular acidic vesicles are transported and fused with the patch of plasma membrane encircled by the sealing zone [27]. This procedure brings H + -ATPases that transport protons to the ruffled border.…”