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How do I diagnose neuro Wilson disease at the bedside - Dr Prashanth LK
- 1. Talk: Prashanth LK Chairpersons: Pettarusp Wadia, Smita Malhotra How do I diagnose Neuro Wilson disease at the bedside?
- 2. How do I Diagnose Neuro WD? w w w . m o v e m e n t d i s o r d e r s c l i n i c . c o m Dr. Prashanth LK, Consultant Neurologist & Movement Disorders Specialist Consultant Neurologist, Specialist : Parkinson’s Disease & Other Movement Disorders Apollo Hospitals, Bangalore
- 3. Wilson’s Disease Clinic @ NIMHANS Prof.H.Sathyanarayana Swamy Prof. A B Taly Prof. Sanjib Sinha
- 6. Non - Neurological Diagnosis Neurological Diagnosis
- 7. ? A Case Case or Two Several Cases Many Cases During a Career Hundreds of Cases During a Decade What causes Misdiagnosis? Probability of Seeing Wilson’s Disease General Practitioner General Internist Specialist Super Specialist Center for WD
- 8. How to Reduce Errors? How to Diagnose Wilson’s Disease?
- 9. How do I Approach ? Clinical Suspicion Classical High Degree Of Suspicion • Unexplained Jaundice • Hepatic Features with EPS • Family History • Early / Young onset EPS • Progressive Behavioral Symptoms • Multi-axial Neurological Involvement • Recurrent Pathological fractures • Unexplained Hematological problems
- 10. How do I Approach ? Clinical Suspicion Confirmatory Workup Classical High Degree Of Suspicion BiochemicalOphthalmic Radiological Genetics • Unexplained Jaundice • Hepatic Features with EPS • Family History • Early / Young onset EPS • Progressive Behavioral Symptoms • Multi-axial Neurological Involvement • Recurrent Pathological fractures • Unexplained Hematological problems • Slit Lamp Confirmed KF ring • Raised 24hr Urinary copper • Low serum ceruloplasmin • USG Abdomen • MRI Brain • Confirmed Mutations Chromosome 13q14
- 11. Nutshell • High Degree of Suspicion • All Patients with young onset Extrapyramidal features should be evaluated for WD unless proven otherwise • Multi Axial Neurological Involvement : Neurology + Behavior • Multi Axial Systemic Involvement : • Pathological Fractures / Hematological Issues / Renal issues • Unexplained jaundice • MRI : Signal Changes in Basal Ganglia, Thalami, & Brainstem. Face of Giant Panda Sign, Mid brain tectal plate changes, CPM like changes
- 13. How do I Approach ? Clinical Suspicion Confirmatory Workup Management Classical High Degree Of Suspicion BiochemicalOphthalmic Radiological Genetics Symptomatic Disease Modifying • Unexplained Jaundice • Hepatic Features with EPS • Family History • Early / Young onset EPS • Progressive Behavioral Symptoms • Multi-axial Neurological Involvement • Recurrent Pathological fractures • Unexplained Hematological problems • Slit Lamp Confirmed KF ring • Raised 24hr Urinary copper • Low serum ceruloplasmin • USG Abdomen • MRI Brain • BG / Tectal plate/ CPM • BG + BS changes • Confirmed Mutations Chromosome 13q14 • Medical : Symptom based • Surgical: Thalamotomy, Spleenectomy, DBS, Pallidotomy • Medical : Penicillamine, Zinc, Trientine, Ammonium tetramolybdate • Surgical : Liver Transplant for fulminant Hepatic Failure
- 14. How do I Approach ? Clinical Suspicion Confirmatory Workup Management Follow up Classical High Degree Of Suspicion BiochemicalOphthalmic Radiological Genetics Symptomatic Disease Modifying Family Patient • Unexplained Jaundice • Hepatic Features with EPS • Family History • Early / Young onset EPS • Progressive Behavioral Symptoms • Multi-axial Neurological Involvement • Recurrent Pathological fractures • Unexplained Hematological problems • Slit Lamp Confirmed KF ring • Raised 24hr Urinary copper • Low serum ceruloplasmin • USG Abdomen • MRI Brain • BG / Tectal plate/ CPM • BG + BS changes • Confirmed Mutations Chromosome 13q14 • Medical : Symptom based • Surgical: Thalamotomy, Spleenectomy, DBS, Pallidotomy • Medical : Penicillamine, Zinc, Trientine, Ammonium tetramolybdate • Surgical : Liver Transplant for fulminant Hepatic Failure • Care Giver Education • Screening Sibling • Clinical Course, Copper restricted diet, 24 hr urinary copper