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Progressive cerebellar syndrome:- Case Discussion

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Progressive cerebellar syndrome:- Case Discussion

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Progressive cerebellar syndrome:- Case Discussion

  1. 1. A 35 year old man with progressive cerebellar syndrome and abnormal eye movements Submitted to AskTheNeurologist.Com in 2007 Author Anon.
  2. 2. History <ul><li>Unclear history of childhood cognitive problems requiring special education framework within normal school </li></ul><ul><li>Age 15 developed generalised seizures and myoclonus </li></ul><ul><li>Above well controlled with sodium valproate </li></ul>
  3. 3. History 2 <ul><li>In early 20’s began suffering from action tremor, slurred speech, instability walking and decreased co-ordination in arms </li></ul><ul><li>In 1993 (aged 23) hospitalised electively without reaching diagnosis </li></ul><ul><li>Over last few years epilepsy remains well controlled </li></ul><ul><li>Problems with walking co-ordination worsening, over lat few years confined to wheelchair </li></ul>
  4. 4. History III <ul><li>FH of epilepsy </li></ul><ul><li>No FH of cerebellar disease </li></ul><ul><li>No consanguinity </li></ul>
  5. 5. History IV <ul><li>Drug history:- </li></ul><ul><ul><li>Depalept solution 1200mg /d </li></ul></ul><ul><ul><li>Mysoline 05mg/d </li></ul></ul><ul><ul><li>Clonazepam liquid </li></ul></ul><ul><ul><li>Vitamin A + D </li></ul></ul><ul><ul><li>Folic Acid </li></ul></ul><ul><ul><li>Rivotril </li></ul></ul>
  6. 6. Examination <ul><li>Bilateral exophthalmus </li></ul><ul><li>Severe dysarthria </li></ul><ul><li>PEARLA </li></ul><ul><li>No KFR’s </li></ul><ul><li>Fundi normal </li></ul><ul><li>EOM: - Pursuit movements in tact </li></ul><ul><ul><li>- Very slow / absent saccades </li></ul></ul><ul><ul><li>- No nuclear / infranuclear problem </li></ul></ul>
  7. 7. Examination II <ul><li>Tone mildly reduced </li></ul><ul><li>Power preserved </li></ul><ul><li>Decreased reflexes symmetrically </li></ul><ul><li>No pyramidal signs </li></ul><ul><li>Sensation preserved </li></ul><ul><li>Dysmetria, DDK, int. tremor bilaterally </li></ul><ul><li>Unable to stand </li></ul><ul><li>Athetotic / dystonic movements mainly in arms </li></ul>
  8. 8. Clinical summary <ul><li>Progressive cerebellar syndrome </li></ul><ul><li>Epilepsy ? Red herring (strong FH) </li></ul><ul><li>Myoclonus (controlled) </li></ul><ul><li>Slowed / absent saccades </li></ul><ul><ul><li>(supranuclear problem) </li></ul></ul>
  9. 9. Investigations to date <ul><li>Haematology:- </li></ul><ul><ul><li>FBC </li></ul></ul><ul><ul><li>INR </li></ul></ul><ul><ul><li>Blood smear </li></ul></ul>
  10. 10. Biochemistry <ul><li>Electrolytes </li></ul><ul><li>Liver & Renal function </li></ul><ul><li>Cholesterol </li></ul><ul><li>Albumin </li></ul><ul><li>Lactate </li></ul><ul><li>Ammonia </li></ul><ul><li>Ceruloplasmin </li></ul><ul><li>Copper </li></ul><ul><li>Thyroid function </li></ul>
  11. 11. Biochemistry II <ul><li>Urinary organic acids </li></ul><ul><li>Urinary amino acids </li></ul><ul><li>Hexosaminidase </li></ul><ul><li>Aryl sulphatase </li></ul><ul><li>Galacto cerebrosidase </li></ul><ul><li>Immunoglobins </li></ul>
  12. 12. Vitamins <ul><li>E </li></ul><ul><li>B1 </li></ul><ul><li>B6 </li></ul><ul><li>B12 </li></ul>
  13. 13. Microbiology <ul><li>VDRL </li></ul><ul><li>Rubella antibodies </li></ul>
  14. 14. CSF <ul><li>Normal protein (348 mg/l) </li></ul><ul><li>No cells </li></ul>
  15. 15. Histopathology <ul><li>Skin biopsy </li></ul><ul><li>Rectal biopsy </li></ul><ul><li>Muscle biopsy </li></ul>
  16. 16. Electrophysiology <ul><li>NCV: </li></ul><ul><ul><li>Mild slowing of sensory potentials </li></ul></ul><ul><ul><li>Normal motor potentials </li></ul></ul><ul><li>EEG </li></ul><ul><ul><li>Increased Beta activity </li></ul></ul><ul><ul><li>No slow or epileptic activity </li></ul></ul><ul><ul><li>No asymmetry </li></ul></ul>
  17. 17. Imaging <ul><li>Abdominal USS </li></ul><ul><li>MRI + MRS: </li></ul><ul><ul><li>General atrophy (more pronounced in cerebellum) </li></ul></ul><ul><ul><li>Increased choline and AA signal posteriorly </li></ul></ul><ul><ul><li>No increased lactate signal </li></ul></ul>
  18. 18. Genetics <ul><li>SCA battery </li></ul><ul><ul><li>SCA 1 </li></ul></ul><ul><ul><li>SCA 2 </li></ul></ul><ul><ul><li>SCA 3 </li></ul></ul><ul><ul><li>SCA 6 </li></ul></ul><ul><ul><li>SCA 7 </li></ul></ul><ul><ul><li>DRPLA </li></ul></ul><ul><ul><li>Friedrich Ataxia </li></ul></ul><ul><li>Lysosomal enzymes </li></ul>
  19. 19. Investigations pending <ul><li>Cholestanol </li></ul><ul><li>AFP </li></ul><ul><li>GSS codon </li></ul>
  20. 24. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  21. 31. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  22. 32. Progressive myoclonic epilepsy <ul><li>Usually inborn errors of metabolism </li></ul><ul><ul><li>Myoclonus </li></ul></ul><ul><ul><li>Epilepsy </li></ul></ul><ul><ul><li>Cognitive decline </li></ul></ul><ul><ul><li>Progressive </li></ul></ul><ul><li>Lafora body disease </li></ul><ul><li>Unverricht-Lundborg disease </li></ul><ul><li>Lysosomal disorders (e.g. NPD, NCL) </li></ul><ul><li>Mitochondrial disorders (MERRF and others) </li></ul>
  23. 33. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  24. 34. Inherited ataxias with known metabolic defect <ul><li>Wilson </li></ul><ul><li>CTX </li></ul><ul><li>Refsum </li></ul><ul><li>GM2 gangliosidosis </li></ul><ul><li>AVED </li></ul><ul><ul><li>Pure </li></ul></ul><ul><ul><li>HARP </li></ul></ul><ul><ul><li>Bassen-Kornzweig </li></ul></ul><ul><li>Lysosomal </li></ul>
  25. 35. Niemann-Pick C <ul><li>AR – rare </li></ul><ul><li>Cognitive decline , Ataxia , Movements , Myoclonus , Seizures , Vertical suparanuclear gaze palsy , Psychosis </li></ul><ul><li>Diagnosis: Bone Marrow ; Fibroblasts with lowered cholesterol esterification rate </li></ul><ul><li>18q11-q12 </li></ul>
  26. 36. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  27. 46. Summary <ul><li>Almost certainly “ early onset genetic ataxia” </li></ul><ul><li>Probably AR inheritence </li></ul><ul><li>Phenotype is “AOA” </li></ul><ul><li>May have AOA1 or AOA 2 mutation </li></ul>
  28. 48. Submitted to AskTheNeurologist.Com in 2007 Author Anon.

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