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Sam the miracle puppy!

Sam was referred to see Bethan on our internal medicine team as an emergency from Station House Vets. His owner had woken that morning to find that he had vomited and was collapsed. She rushed him to Station House Vets, who stabilised him with IV fluids and oxygen before transporting him to us at Swift.

On arrival, Sam was comatose. Emergency tests revealed anaemia, hypoglycaemia (low blood sugar), hypocalcemia (low blood calcium), hypotension (low blood pressure) and very high blood ammonia levels.

At this stage it was suspected that Sam was suffering from hyperammonaemic encephalopathy – dysfunction of the brain caused by toxicity due to elevated ammonia levels in the blood. The most common cause for this in young dogs is a congenital liver shunt (where an abnormal blood supply to the liver develops before birth), but Border Collies can also get a rare genetic condition called Imerslund-Gräsbeck syndrome (IGS), which in very rare cases, can cause this problem too.

Blood samples were sent to the lab to check cobalamin levels and for genetic testing for IGS. Abdominal CT-angiography (CT with contrast enhancement of the blood vessels) was also performed to rule out a liver shunt, which was normal.

 

Sam was treated in our intensive care unit and was monitored round-the-clock by our dedicated nurses and hospital vets. He was given IV fluids supplemented with calcium and glucose, hypertonic fluids to treat raised intracranial pressure, antibiotics and lactulose to reduce the ammonia levels and lots of other supportive medications. He was tempted to eat and given lots of TLC. Cobalamin supplementation was started given the suspicion for IGS, while lab results were still pending. Sam was such a fighter and rallied with treatment.

Results showed unmeasurably low cobalamin levels and genetic testing confirmed Sam has IGS, which is an autosomal recessive condition. This genetic condition is caused by a deletion in the CUBN gene, which means affected dogs cannot absorb cobalamin from food in their small intestine. Cobalamin, which is vitamin B12, is a vitamin involved in essential jobs such as red blood cell formation, energy metabolism and nerve function.

 

Affected puppies usually start to show signs at 6-12 weeks of age (once any cobalamin they received from their mother is depleted) and present with gradual signs of poor growth, weakness, anaemia and gut issues, rather than an emergency patients. There is only one other case report from 20 years ago where a puppy presented with hyperammonaemic encephalopathy because of this condition.

This condition requires regular monitoring and life-long cobalamin supplementation, but with optimal treatment affected dogs can live happy and healthy lives, which we are pleased to report Sam is doing!!

We love the regular updates his owner and Station House Vets continues to send us.

sam recovering outside