Imerslund‐Grasbeck syndrome in a cross‐breed dog

Abstract

Imerslund‐Gräsbeck syndrome is an autosomal recessive disease reported only in certain pure‐breed dogs. An 18‐month‐old, male neutered beagle cross‐breed was presented for evaluation of severe lethargy, progressive weakness and anorexia. Main clinicopathological findings included low body condition score (2.5/9), severe muscle atrophy, several neurological abnormalities, mild normochromic, normocytic, non‐regenerative anaemia, severe hypocobalaminemia and mild proteinuria. Extensive diagnostic tests ruled out most of differential diagnoses for the aforementioned clinicopathological abnormalities and genetic evaluation showed that the dog was heterozygous for two previously described mutations affecting the CUBN gene, the beagle and the border collie variants. The dog showed an excellent clinical response to oral cobalamin supplementation with no relapse after 4 months. In conclusion, this case creates awareness that Imerslund‐Gräsbeck syndrome should be considered even in mixed‐breed dogs with compatible clinical signs and that two different pathogenic CUBN mutations in compound heterozygosity can lead to a typical Imerslund‐Gräsbeck syndrome phenotype.

Serum cobalamin and methylmalonic acid concentrations in juvenile dogs with parvoviral enteritis or other acute enteropathies

“…2,10 Dogs affected by Imerslund-Gräsbeck syndrome (a mutation resulting in selective cobalamin malabsorption in the ileum) can develop blood cell dyscrasias (e.g., neutropenia, nonregenerative anemia), central and peripheral neurologic signs, and gastrointestinal (GI) signs such as anorexia, vomiting, diarrhea, lethargy, and failure to thrive. 11,12 Although some of these signs exist in dogs with chronic enteropathies, improvement generally is attributed to resolving the underlying condition as opposed to supplementation alone. Weight gain and improvement in clinical outcome have been described in cats with parenteral administration of cobalamin in addition to other treatments.…”