Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats.

ABSTRACT:

Case series summary

Two Japanese domestic cats with GM2 gangliosidosis variant 0, diagnosed at different times, are included in this case series. Both cats were diagnosed by genetic analysis and had the HEXB:c.667C>T pathogenic genetic variant, which have been previously reported in Japanese domestic cats with GM2 gangliosidosis variant 0. Clinical signs and the identification of vacuolation in circulating lymphocytes were consistent with those in previous reports of feline GM2 gangliosidosis variant 0. Radiography showed that both cases had similar skeletal radiographic manifestations, which has not been previously reported in Japanese domestic cats with GM2 gangliosidosis variant 0. Radiographic findings included abnormally shaped vertebral bodies, obscure or irregular end

SUBMITTER: Yu Y 

PROVIDER: S-EPMC8851500 | biostudies-literature | 2022 Jan-Jun

REPOSITORIES: biostudies-literature