Wilson So

Developmental anomalies are an important cause of stillbirth and early perinatal death in companion animals. Many of these disorders remain poorly understood and provide an opportunity as a spontaneous animal model for human disease. Pentalogy of Cantrell is a rare congenital syndrome described in human neonates. It is a ventral midline closure defect with a proposed familial inheritance in humans. This syndrome involves five defects, including the thoracoabdominal wall, sternal, diaphragmatic, pericardial and cardiac malformations. Diverse expressions of these defects have been described in humans and sporadically in domestic animals. This severe syndrome commonly harbors a poor prognosis, posing an ethical and surgical dilemma. To better understand this syndrome and its presentation in dogs, we describe two rare cases of Pentalogy of Cantrell in a litter of papillon dogs. The affected puppies had anomalies compatible with the Pentalogy of Cantrell, including thoracoabdominal schisis, ectopia cordis, sternal cleft, pericardial agenesis, and diaphragmatic defects. The diagnosis was confirmed by advanced imaging (computed tomography) and postmortem examinations. The family history of this litter was explored and other cases in domestic animals were reviewed. This is the first report of the complete Pentalogy of Cantrell with ectopia cordis in the dog and the only report on papillons. Similar to human cases, possible familial inheritance and suspected male gender bias were observed. Further research on this novel animal model, its pathogenesis and its hereditary basis, may be helpful in better understanding this rare developmental disorder.

Case summary: A 3-year-old entire female Burmese cat was presented for investigation of intermittent lethargy during gestation followed by persistent hypersalivation and ataxia postpartum. The cat had queened three litters in total, with clinical signs worsening during the most recent lactation period. Mild anaemia (26%), hypoglycaemia (2.4 mmol/l; reference interval [RI] 3.9–8.3 mmol/l) and increased postprandial serum bile acids (74 µmol/l; RI <25 µmol/l) were identified on initial bloodwork. Multiphase contrast-enhanced CT identified a mesentericorenocaval portosystemic shunt; this was attenuated surgically with an ameroid constrictor. Clinical signs resolved after surgery. Follow-up 3 months postoperatively revealed normal pre- and postprandial serum bile acids (2 µmol/l and 3 µmol/l, respectively) with repeat CT identifying evidence of shunt attenuation. The cat continued to be healthy and free of clinical signs 12 months postoperatively. Relevance and novel information: Mesentericorenocaval portosystemic shunt morphology has not been previously reported in the cat and should be considered as a differential diagnosis for cats presenting with peripartum onset of malaise, ptyalism or ataxia.