Cerebral spinal fluid cytology from a Doberman Pinscher

A 3-year-old intact male Doberman Pinscher dog was presented with neurologic signs and severe hepatic disease, and lysosomal storage disease was suspected based on inclusions in large mononuclear cells of the cerebral spinal fluid analysis. The dog was diagnosed with mucopolysaccharidosis type I (MPS I) via a urinary metabolic screen and serum enzyme activity tests but was homozygous wild-type when tested for the known IDUA gene variants that cause MPS I in other dog breeds. This is the first report of MPS I in Doberman Pinscher dogs.