Abstract
AbstractThe 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.
Highlights
Osteopetrosis is a heterogeneous group of acquired or hereditary bone dysplasias which are identified by osteosclerosis without alteration of the overall bone shape.[1]
The polymerase chain reaction (PCR) for the presence of feline leukaemia virus (FeLV) was negative. This case report describes a pre-adolescent cat presented with multiple chronic and acute spontaneous fractures over a period of 9 months that raised the suspicion of abuse
Radiographs, computed tomography (CT) imaging and microscopic histopathologic examination revealed a generalized increase in bone density and mass without alteration of overall bone shape but with obliteration of the bone marrow cavity
Summary
Osteopetrosis is a heterogeneous group of acquired or hereditary bone dysplasias which are identified by osteosclerosis (increase in bone density and mass) without alteration of the overall bone shape.[1]. Wright and colleagues described 14 cats with acquired osteopetrosis, resulting from leukaemia (1), SLE-related illness (1), renal failure (1), neoplasia (3) and myeloproliferative disorders (8) and suggested to rename the condition to generalized endosteal hyperplasia because the described cases did not completely resemble osteopetrosis in humans.[9] There is only one case report that suspects inherited osteopetrosis in a cat, but more likely was secondary, considering the old age of the cat (12 years) and the presence of a fibrosarcoma.[6] The aim of the present case report is to describe a young adolescent cat with generalized bone dysplasia resembling inherited ADO in humans. Haematocrit Haemoglobin Mean corpuscular haemoglobin concentration White blood cell count Granulocytes Lymphocytes/monocytes Platelets Glucose Urea Creatinine Phosphate Calcium Total protein Albumin pHa Partial carbon dioxide pressure Bicarbonate Anion gap Total carbon dioxidea Sodium Potassiuma Chloride Globulins Alanine aminotransferase Alkaline phosphatase Total bilirubin Cholesterol Amylase aValues depicted in bold are outside the reference range
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