Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog.

Reichler, I; Hoerauf, A; Guscetti, F; Gardelle, O; Stoffel, Michael Hubert; Jentsch, B; Walt, H; Arnold, S (2001). Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog. Journal of small animal practice, 42(7), pp. 345-348. Pergamon Press 10.1111/j.1748-5827.2001.tb02471.x

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A nine-month-old golden retriever bitch was presented with exercise intolerance and recurrent nasal discharge. Based on clinical, radiographic and ultrasonographic examination, a diagnosis of rhinitis, situs inversus totalis and tricuspid valve insufficiency was established. The results of video- and electron microscopy studies of the respiratory epithelium were compatible with primary ciliary dyskinesia (PCD). However, no evidence of a primary ultrastructural defect of the cilia was found. The dog was euthanased because of the poor prognosis. At necropsy, a hydrocephalus internus and a subaortic stenosis were additionally diagnosed. PCD, in combination with situs inversus, has been previously reported in golden retrievers, but without a concomitant hydrocephalus internus. Furthermore, concomitant occurrence of internal cardiac malformation and PCD has not previously been reported in the dog.

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