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 endplates (both of which were seen especially in the cervical and thoracic vertebrae), generalised osteopenia and new bone proliferation around articular facets.
Relevance and novel information: To the best of our knowledge, this is the first report to present the skeletal radiographic abnormalities of Japanese domestic cats with GM2 gangliosidosis variant 0 caused by the HEXB:c.667C>T pathogenic genetic variant. Furthermore, together with a report published in 2015 on the radiographic findings of feline GM2 gangliosidosis variant 0 caused by another pathogenic genetic variant, this report suggests that these findings may be indicators of feline GM2 gangliosidosis variant 0. The easily obtained radiographic findings described in this report may be useful as a finding suggestive of feline GM2 gangliosidosis variant 0, in addition to the cytological finding of the vacuolated cells. The report emphasises the utility of radiography for diagnosis of cases with suspected progressive neurodegenerative diseases.
Keywords: HEXB; Lysosomal storage disease; rare disease; veterinary radiology; β-hexosaminidase.
© The Author(s) 2022.