Metaphyseal osteopathy in three Australian Kelpie siblings.

CASE REPORT: Metaphyseal osteopathy (MO) was diagnosed in three Australian Kelpie puppies that were presented for veterinary assessment of lameness. The three puppies were siblings. Each was from a different litter by the same breeding pair. The puppy in case one was seen by the authors, and the puppies in cases two and three were patients at other veterinary hospitals. However, the medical records and radiographs were examined and reviewed for this report. Radiographic investigation of the lameness revealed pathognomonic appearance of MO affecting the metaphyseal region of the long bones in all three puppies. The diagnosis was confirmed on histopathology in one patient. CONCLUSION: MO is considered a disease of large and giant-breed dogs, being rarely reported in non-large-breed dogs, and has not been reported in the Australian Kelpie, which is considered a medium-breed dog. This case series suggests a previously unreported breed predisposition to MO in the Australian Kelpie.

Doença de Camurati-Engelmann: relato de caso / Camurati-Engelmann disease: case report

Objetivos: Fornecer informações sobre a doença de Camurati-Engelmann, também conhecida como displasia diafisária progressiva, possibilitando o seu diagnóstico pelo profissional de saúde. Método: Relato de caso associado à revisão da literatura científica sobre o tema. Discussão: Doença rara, de herança autossômica dominante, caracterizada por hiperostose progressiva com envolvimento das diáfises dos ossos. Os sintomas mais comuns são dores em extremidades, alteração da deambulação, fatigabilidade e fraqueza muscular. Seu diagnóstico é clínico-radiológico. O tratamento consiste basicamente na administração de glicocorticóides e anti-inflamatórios não esteroidais para melhorar os sintomas clínicos como dor e fadiga...

Goals: To provide information about Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, allowing its diagnosis by a healthcare professional. Methods: A case report associated with literature review. Discussion: It is a rare, autosomal dominant type, disease characterized by progressive hyperostosis involving the diaphysis of bones. The most common clinical symptoms are pain in extremities, waddling gait, fatigability and muscle weakness, the diagnosis may be determined by clinical and radiological data. Treatment involves basically glucocorticosteroids and non-steroid anti-inflammatory administration to promote improvement in clinical symptoms such as pain and fatigue...

Partial resolution of bone lesions. A child with severe combined immunodeficiency disease and adenosine deaminase deficiency after enzyme-replacement therapy.

A child with severe combined immunodeficiency disease and adenosine deaminase deficiency, with characteristic bone dysplasia, was treated with transfusions of frozen irradiated RBCs as a means of enzyme replacement. This therapy resulted in restoration of immunologic competence and partial resolution of the bone lesions. Although the natural history of these lesions without therapy is not known, enzyme-replacement therapy may have played a role in the resolution of this patient's bone lesions.