Shiba Inu with suspect gangliosidosis

Re: Shiba Inu with suspect gangliosidosis

Mark Lowrie — Fri, 17 Feb 2012 09:07:55 GMT

Thanks for the update - it does sound more and more likely this is GM1....

Lead poisoning would be very unlikely. The main reason is that lead poisoning produces forebrain signs and you seem to have multifocal signs of cerebellar, brainstem and spinal cord signs. I am not aware of lead poisoning causing this. The non-regenerative anaemia is very likely non-specific and could be secondary to a large number of conditions.

Re: Shiba Inu with suspect gangliosidosis

ilanit — Thu, 16 Feb 2012 22:26:01 GMT

Update: bloods all normal (still awaiting Toxo and T4) only mild non regenerative anemia. I did not find any abnormal white blood cells.

Both parents were imported from Japan by the breeder. The owners chose this one because it was the smallest in the litter!!!

And apparently their previous dog (a labrador) died at about 6 months of age due to a progressive neurological condition! Makes you wonder, what are the odds!!!

Just a thought.. could chronic lead intoxication present like this?? I had a slight feeling there were too many nRBC in the light of a mild non regerative anemia, but this was definitely something obvious.

Re: Shiba Inu with suspect gangliosidosis

Mark Lowrie — Wed, 15 Feb 2012 15:53:36 GMT

The paper you have cited is the one that has found a mutation and looked at the use of a PCR test. However, I am not aware of them making this test commercially available. The paper is only a report on the use of PCR and they don't mention any marketing of the test.

Re: Shiba Inu with suspect gangliosidosis

ilanit — Wed, 15 Feb 2012 11:37:01 GMT

Thanks very much for your reply! Very interesting!

I am not sure about litter mates. I will check with the owner.

This is the page about PCR:

http://www.ncbi.nlm.nih.gov/pubmed/20224082

Unfortunately I don't have MRI access (on Malta, no such facility on the island).Will start with blood tests.

I will let you know. Thanks again!

Re: Shiba Inu with suspect gangliosidosis

Bob Russell — Wed, 15 Feb 2012 09:40:00 GMT

My browser says no suitable plug in available so cannot view the videos. Tried Chrome and Internet Explorer. Any ideas please?

Right clicked and downloaded file and opened with VLC media player. Interesting case!

We had a patient with milder but not dissimilar symptoms that turned out to be hypothyroid!

Re: Shiba Inu with suspect gangliosidosis

Mark Lowrie — Wed, 15 Feb 2012 09:34:24 GMT

This is an unusual type of storage disease – great videos. I would agree it seems likely as you have signs of spinal disease plus cerebello-vestibular signs. There is definitely hypermetria and the wide head excursions suggest this dog has some form of bilateral vestibular syndrome – something that would fit nicely with GM1 and would explain why you haven’t seen nystagmus. Do you know if any of the other pups from the litter are affected – usually more than one dog is affected in each litter – usually approx 25% of the litter (autosomal recessive inheritance)?

Of course, as you mention, it is important to rule-out other causes for diffuse CNS signs in a young dog. Haematology is important (if this is GM1 then it is likely you will see cytoplasmic inclusions/vacuolations in the white blood cells as you considered and I think normal H+E staining would be sufficient here but perhaps someone with clin path knowledge can answer this better) and biochemistry (to rule-out metabolic problems although do ensure this is a 12 hour fasted sample including glucose, bile acids, and triglycerides – an ammonia would be useful too if you can perform this at your practice). An MRI scan is also very important to rule-out other more common causes for the signs you describe – from the description of the neurological signs a brain MRI scan would be sensible +/- CSF analysis.

Finally, if we are still suspicious of GM1 then I am unaware of a commercially available PCR test – although, as you suggested, the mutation for this condition in the Shiba Inu has been identified. Where did you hear of the genetic test? This condition is seen in some other breeds for which there is a PCR test, e.g. the Portuguese Water Dog (http://www.healthgene.com/canine-dna-testing/breed-details/?breed_id=48) and Siberian Husky (http://www.laboklin.co.uk/laboklin/showGeneticTest.jsp?testID=8066). You may want to consider contacting these companies to ask about testing your Shiba Inu.

Finally, dogs with this storage disease often have increased oligosaccharides in the urine. Therefore sending a urine organic acid screen may also be sensible. Urine can be sent to a number of places but I have most commonly used Diane Shelton’s laboratory in San Diego, California (http://vetneuromuscular.ucsd.edu/forms/Laboratory%20Forms%20for%202012/Serviceweb121.pdf).

However, at the end of the day, this is a histopathological diagnosis and there is no treatment. So I really encourage the owners to use their money to ensure this is truly the condition we are dealing with as a different diagnosis would potentially have a treatment and better outcome – hence the reason for considering the expensive tests such as MRI. Obviously the prognosis for GM1 is very poor indeed with few dogs making it passed one year of age.