A Case of Peripheral Neuropathy

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A Case of Peripheral Neuropathy

  1. 1. A RARE CASE OF PERIPHERAL NEUROPATHY By: Dr Jami Swathi Prof Dr Gowrishankar’s unit
  2. 2. <ul><li>A 41 yr old male patient came with complaints of: </li></ul><ul><li>Numbness of both lower limbs – since 1& half yrs </li></ul><ul><li>urinary retention - 6months </li></ul><ul><li>H/ O presenting complaint: </li></ul><ul><li>Pt was apparently normal 1 & half yrs ago when he </li></ul><ul><li>noticed numbness and decreased appreciation of </li></ul><ul><li>sensations of both the lower limbs, </li></ul><ul><li>insidious onset, symmetrical, slowly progressive, </li></ul><ul><li>was present in the soles of both the feet to </li></ul><ul><li>begin with & gradually ascended up to above </li></ul><ul><li>the knee level </li></ul>
  3. 3. <ul><li>h/o slipping of chappals without knowledge + </li></ul><ul><li>No h/o buckling of knees </li></ul><ul><li>No h/o- difficulty in getting up from squatting position </li></ul><ul><li>- weakness or sensory symptoms in upper limbs </li></ul><ul><li>- involuntary movements </li></ul><ul><li>- trauma </li></ul><ul><li>- seizures/ LOC </li></ul><ul><li>he also gives history of increased frequency of micturition with the need to strain to micturate, </li></ul><ul><li>decreased appreciation of bladder filling, </li></ul><ul><li>a feeling of incomplete evacuation of </li></ul><ul><li>bladder </li></ul>
  4. 4. <ul><li>He also noticed decreased sweating of both the lower limbs </li></ul><ul><li>h/o erectile dysfunction + </li></ul><ul><li>h/o vomiting +, repeated episodes between 2-6 am in the morning, postprandial fullness+ </li></ul><ul><li>h/o loose stools+ </li></ul><ul><li>No h/s/o postural hypotension </li></ul><ul><li>No h/s/o any cranial nerve involvement </li></ul><ul><li>No h/o- weight loss </li></ul><ul><li>- cough with expectoration/ hemoptysis </li></ul><ul><li>-skin rash, photosensitivity, oral ulcers </li></ul><ul><li>No h/o chest pain, palpitations </li></ul>
  5. 5. <ul><li>past history: </li></ul><ul><li>no h/o HTN, DM, TB, BA </li></ul><ul><li>personal history: </li></ul><ul><li>non alcoholic/ non smoker </li></ul><ul><li>Family history: </li></ul><ul><li>father died of a neurological illness at the age of 45yrs ( had similar complaints) </li></ul>
  6. 6. <ul><li>O/E: </li></ul><ul><li>Conscious </li></ul><ul><li>oriented </li></ul><ul><li>afebrile </li></ul><ul><li>No pallor, icterus, cyanosis, clubbing, </li></ul><ul><li>lymphadenopathy, edema </li></ul><ul><li>Vitals: </li></ul><ul><li>BP: 120/80 mm Hg </li></ul><ul><li>PR: 80/ min, regular </li></ul><ul><li>Systemic examination: </li></ul><ul><li>CVS: WNL </li></ul><ul><li>RS: WNL </li></ul>
  7. 7. <ul><li>CNS: </li></ul><ul><li>HIGHER MENTAL FUNCTIONS: normal </li></ul><ul><li>CRANIAL NERVES: normal </li></ul><ul><li>MOTOR SYSTEM: </li></ul><ul><li>Right left </li></ul><ul><li>bulk: normal normal </li></ul><ul><li>tone: normal normal </li></ul><ul><li>power: </li></ul><ul><li>UL: 5/5 5/5 </li></ul><ul><li>LL: mild weakness of EHL Bilaterally </li></ul><ul><li>rest – 5/5 </li></ul><ul><li>PLANTAR flexor flexor </li></ul>
  8. 8. <ul><li>reflexes: </li></ul><ul><li>right left </li></ul><ul><li>biceps: ++ ++ </li></ul><ul><li>triceps: ++ ++ </li></ul><ul><li>supinator: ++ ++ </li></ul><ul><li>knee: ++ ++ </li></ul><ul><li>ankle: + + </li></ul><ul><li>Sensory systems: pain & temp sensations decreased below the level of the knee in a graded manner </li></ul><ul><li>vibration sense impaired upto ASIS level </li></ul><ul><li>Cerebellar system: WNL </li></ul><ul><li>No signs of meningeal irritation </li></ul>
  9. 9. Differential diagnosis <ul><li>Diabetic neuropathy </li></ul><ul><li>Amyloidosis </li></ul><ul><li>Hereditary sensory and autonomic neuropathy </li></ul><ul><li>HIV related autonomic neuropathy </li></ul><ul><li>Paraneoplastic neuropathy </li></ul><ul><li>Vasculitis </li></ul><ul><li>Vit B12 deficiency </li></ul>
  10. 10. INVESTIGATIONS COMPLETE BLOOD COUNTS Hb 14 gm/dl TC 9800 cells/ cu mm DC P71 L24 M5 ESR 4/12 mm/hr Platelets 2,46.000 / cu mm PCV 42.1 % MCV 84.2 fL MCHC 33.5 gm/dl MCH 28.2 PG
  11. 11. liver function tests Total bilirubin 0.6 mg% Direct bilirubin 0.2 mg% SGOT 20 U/L SGPT 12 U/L Total protein 7.7 gm% albumin 4.5 gm% Alkaline phosphatase 68 U/L Random bld sugar 110 mg% renal function tests & serum electrolytes Urea 28 mg% Creatinine 0.9 mg% Na 143 m Eq/L K 4.4 m Eq/L HCO3 27 m Eq/ L
  12. 12. viral markers HIV negative HbSAg negative Anti HCV negative ANA negative CRP < 6 RA factor negative C- ANCA/ P- ANCA negative Anti SSA / SSB negative
  13. 13. Vit B12 level 406 pg/ml Chest x ray PA view normal ECG normal
  14. 14. MRI spine normal Usg abdomen normal Urine C/S no growth
  15. 15. Bone marrow biopsy cellular marrow. No abnormal cells seen Serum protein electrophoresis normal Nerve conduction study Motor sensory axonal demyelinating polyradiculo- -neuropathy involving predominantly both the lower limbs
  16. 16. Nerve biopsy Right superficial peroneal nerve with deposits of amyloid Muscle biopsy Right peroneus brevis- mild muscle atrophy
  17. 17. DIAGNOSIS <ul><li>AMYLOID POLYRADICULONEUROPATHY- PROBABLY FAMILIAL </li></ul>
  18. 18. APPROACH TO PERIPHERAL NEUROPATHY <ul><li>Peripheral neuropathy describes the disorder of peripheral nerves including the: </li></ul><ul><li>dorsal & ventral nerve roots, </li></ul><ul><li>dorsal root ganglia, </li></ul><ul><li>nerve plexuses ( brachial & lumbosacral) </li></ul><ul><li>cranial nerves (except I & II), & </li></ul><ul><li>other sensory, motor & autonomic nerves </li></ul>
  19. 19. Symptoms ??...
  20. 20. <ul><li>Is it a polyneuropathy or mononeuropathy??... </li></ul><ul><li>Is it small fiber or large fiber??.. </li></ul>
  21. 22. Neuropathies with motor manifestations predominantly <ul><li>Motor neuron disease </li></ul><ul><li>Multifocal motor neuropathy </li></ul><ul><li>GBS </li></ul><ul><li>Acute motor axonal neuropathy </li></ul><ul><li>Porphyria </li></ul><ul><li>Chronic inflammatory polyradiculoneuropathy </li></ul><ul><li>CMT </li></ul><ul><li>Lead intoxication </li></ul><ul><li>Diphtheria </li></ul>
  22. 23. Neuropathies with autonomic system involvement ACUTE CHRONIC GBS Diabetes Porphyria Amyloidosis Acute panautonomic neuropathy Paraneoplastic Toxic : vincristine HIV Hereditary sensory & autonomic neuropathy
  23. 24. AMYLOIDOSIS <ul><li>Primary systemic amyloidosis </li></ul><ul><li>Secondary systemic amyloidosis </li></ul><ul><li>Familial ( FAP I, II, III ,IV) </li></ul>
  24. 30. <ul><li>TREATMENT </li></ul>
  25. 33. <ul><li>Presse Med. 2010 Jan;39(1):17-25. Epub 2009 May 5. </li></ul><ul><li>[Liver transplantation for familial amyloid polyneuropathy]. </li></ul><ul><li>[Article in French] </li></ul><ul><li>Adams D , Slama M , Samuel D . </li></ul><ul><li>Liver transplantation has been proposed as a treatment for FAP because the liver is the main source of variant amyloidogenic TTR. Transplantation makes it possible to eliminate 98% of the variant TTR in the serum, doubles median survival for variant TTRMet30 carriers, and halts the progress of the sensorimotor neuropathy over the long term in 62% of cases. No regression or recurrence has been observed. Poor prognostic factors after liver transplantation are a mutation other than the TTRMet30 variant, severe neuropathy, and late onset. Liver transplantation must be proposed to the symptomatic patients as early as possible </li></ul>
  26. 34. <ul><li>Liver Transpl. 2010 Apr;16(4):470-3. </li></ul><ul><li>Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report. </li></ul><ul><li>Muller KR , Padbury R , Jeffrey GP , Poplawski NK , Thompson P , Tonkin A , Harley HA . </li></ul><ul><li>South Australian Liver Transplant Unit, Flinders Medical Centre, Bedford Park, South Australia, Australia . </li></ul><ul><li>transthyretin amyloid polyneuropathy secondary to an infrequently reported transthyretin mutation (Ala36Pro) who underwent liver transplantation with poor outcomes. </li></ul>
  27. 35. <ul><li>Neurology. 2010 Jul 27;75(4):324-7. </li></ul><ul><li>Progression of transthyretin amyloid neuropathy after liver transplantation. </li></ul><ul><li>Liepnieks JJ , Zhang LQ , Benson MD . </li></ul><ul><li>Indiana University School of Medicine, Department of Pathology and Laboratory Medicine, 635 Barnhill Drive, Indianapolis, IN 46202-5126, USA </li></ul><ul><li>Survival after liver transplantation for TTR amyloidosis may be associated with progression of neuropathy due to continued deposition of amyloid derived from wild-type TTR. </li></ul>
  28. 36. <ul><li>Transplantation. 2004 Jan 15;77(1):64-71. </li></ul><ul><li>Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. </li></ul><ul><li>Herlenius G , Wilczek HE , Larsson M , Ericzon BG ; Familial Amyloidotic Polyneuropathy World Transplant Registry . </li></ul><ul><li>Karolinska Institute, Stockholm, Sweden . </li></ul><ul><li>A total of 54 centers in 16 countries have performed OLT for FAP, and today approximately 60 OLTs are performed annually worldwide. During the last decade, a total of 539 patients have undergone 579 OLTs . Patient survival is excellent (overall 5-year patient survival 77%) and comparable to the survival with OLT performed for other chronic liver disorders, but longer follow-up is needed to compare the outcome after OLT with the natural course of the disease. The main cause of death was cardiac related (39%). </li></ul>
  29. 37. THANK YOU

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