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History

Case # AP07-02381 Midori Asakawa and John Cullen NC State University, College of Veterinary Medicine. History. 11 month old, male neutered Dachshund Derived from consanguineous mating (mother and son)

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History

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  1. Case # AP07-02381Midori Asakawa and John CullenNC State University, College of Veterinary Medicine Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  2. History • 11 month old, male neutered Dachshund • Derived from consanguineous mating (mother and son) • 3 month history of stumbling and falling which had progressed to severe vestibular ataxia, nystagmus, and possible seizure activity • No response to antibiotics Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  3. Dura intact Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  4. Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  5. HE Low Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  6. Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  7. PAS Sudan Black Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only Fluorescence Microscopy LFB

  8. TEM Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  9. DNA Analysis A frame shift mutation in canine TPP1 * (the ortholog of human CLN 2) • Encodes a lysosomal enzyme, tripeptidyl 1 peptidase • Causative gene of human infantile neuronal ceroid lipofuscinosis • Accumulating curvilinear cytosome Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only * Performed at University of Missouri

  10. Morphological Diagnosis Diffuse, moderate, neuronal degeneration and necrosis with cerebral atrophy and abundant neuronal intracytoplasmic granular pigment Disease Diagnosis Ceroid lipofuscinosis Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  11. Other Histologic Lesions Cerebellum Retina Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  12. Neuronal CeroidLipofuscinosis • Inherited lysosomal storage disease • Progressive neuropathy and accumulation of autofluorescent lipopigment in neurons and other cells. • PAS, LFB and Sudan black positive, autofluorescent granules • Human NCLs are classified into several forms based on age of clinical onset and causative gene Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

  13. EM Findings and Stored Proteins Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only • Ultrustructure • Stored proteins • Subunit C of mitochondrial ATP • Sphingolipid activator proteins A and D • Unknown

  14. NCLs in Veterinary Medicine Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only • NCLs have been described in cattle, sheep, goats, cats and more than 18 breeds of dogs • English Setter, Border Collie, Bulldogs, Golden Retriever, Australian Cattle Dog, Dalmatian, Saluki, Chihuahua, Tibetan terrier, Dachshund, Cocker Spaniel, Miniature Schnauzer and Corgi • The causative mutation in dogs • English Setters - a missense mutation in CLN 8 • Border Collies - a nonsense mutation in CLN 5 • Bulldogs - a missense mutation in CTSD • Juvenile Dachshund - a frame shift mutation in canine TPP1: the ortholog of human CLN 2

  15. Acknowledgement Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only Dr. John Cullen Dr. Keith Linder Dr. Edward MacKillop NCSU Histology Lab All my resident mates and senior pathologists

  16. Questions? Presented at SEVPAC 2008 – Permission granted for use on SEVPAC website only

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