Adult-onset neuronal ceroid lipofuscinosis in a smooth-haired dachshund

Gouveia, D; Foreman, M; Cloup, E

Abstract

A 5-year-old, smooth-haired miniature dachshund exhibited a progressive history of frequent episodes of aggression towards objects, head pressing, circling and intermittent pelvic limb ataxia over a period of 2 weeks. Visual impairment was also noticed several months prior. Neurolocalisation was consistent with forebrain disease. Blood and urine analysis, magnetic resonance imaging of the brain and cerebrospinal fluid analysis were all unremarkable. The patient was euthanased due to disease progression, and postmortem histopathological analysis and electronic microscopy identified the accumulation of intracellular granular material in a number of neurons, mainly located in the thalamus and hypothalamus. This supported a diagnosis of neuronal ceroid lipofuscinosis. Genetic testing showed no mutations in the causative genes reported for this breed. This case reports the occurrence of a potentially novel subtype of neuronal ceroid lipofuscinosis, due to a currently unidentified genetic mutation, leading to an adult onset of clinical signs in the dachshund.

Citation

Gouveia, D., Foreman, M., & Cloup, E. (2024). Adult-onset neuronal ceroid lipofuscinosis in a smooth-haired dachshund. Vet Record Case Reports, https://doi.org/10.1002/vrc2.991

• Journal Article Type: Article
• Acceptance Date: Sep 2, 2024
• Online Publication Date: Sep 19, 2024
• Publication Date: 2024
• Deposit Date: Sep 30, 2024
• Publicly Available Date: Sep 30, 2024
• Journal: Vet Record Case Reports
• Print ISSN: 2052-6121
• Electronic ISSN: 2052-6121
• Publisher: BMJ Publishing Group
• Peer Reviewed: Peer Reviewed
• DOI: https://doi.org/10.1002/vrc2.991
• Keywords: MUTATION; DOGS; SYMPTOMS; DELETION; CLN2