Today’s case is a 5-month-old female Malamute with difficulty walking. What are your differential diagnoses?
Findings
Thorax: The aortic arch is markedly enlarged, seen on both the lateral and ventrodorsal projections. The cardiac silhouette is otherwise normal in size and the pulmonary vasculature is normal. No abnormalities are seen in the pulmonary parenchyma. There is mineral opacity material in the stomach. The liver is enlarged.
Skeleton: The epiphyses of the vertebral bodies and long bones are small and misshapen, with incomplete mineralization. There is increased soft tissue opacity in the joints with evidence of laxity and subluxation in the stifles and elbows. The cuboidal bones of the tarsus and carpus are small and irregular. The anconeal process of the elbow is ununited.
Differential Diagnosis
Epiphyseal dysplasia with joint laxity and subluxation. These findings along with aortic coarctation and hepatomegaly are most consistent with a congenital lysosomal storage disease such as mucopolysaccharoidosis. Congenital hypothyroidism could also be ruled out.
Diagnosis
Mucopolysaccharoidosis.
A urine test was suggestive of mucopolysachharoidosis. Further imaging and blood testing were declined.
great case. How about the diameter of the trachea, isn’t it a bit too small? and these soft tissue opacities ventral to the sternum