MRI findings of neuronal ceroid lipofuscinosis in a cat

White, Crystal; Mortier, Jeremy; Verin, Ranieri; Maddox, Thomas; Goncalves, Rita; Sanchez-Masian, Daniel

To our knowledge this is the first report of MRI findings in a cat with confirmed neuronal ceroid lipofuscinosis. The neuronal ceroid lipofuscinoses represent a heterogeneous group of genetically determined neurodegenerative lysosomal storage diseases. The disease is characterised by abnormal accumulation of autofluorescent lipopigments within the neuronal and extraneural tissue. 5 Neuronal ceroid lipofuscinosis has been described in several domestic species, including dogs, cats, cattle, sheep, goats, monkeys and mice. [6] [7] [8] [9] [10] [11] [12] [13] Clinical signs are similar in all species, including humans, and involve progressive cognitive decline, motor dysfunction, vision deficits and epileptic seizures, ultimately resulting in death or euthanasia. Symptomatic management is generally the mainstay of treatment. 14 Encouraging results have, however, been seen using enzyme-replacement therapy and gene therapy. 15 Carnitine is a breakdown product of subunit c protein, a major component of the storage material that accumulates in a number of neuronal ceroid lipofuscinoses. Delays in cognitive dysfunction have been reported in English Springer Spaniels supplemented long term with carnitine. 15 However, despite these therapeutic advances, neuronal ceroid lipofuscinoses remain an incurable group of diseases.