DR.K.MANOJKUMAR PROF.DR.GOWRISHANKAR UNIT
 
<ul><li>A  14 YEAR OLD FEMALE CAME WITH  </li></ul><ul><li>C/O  HEARING LOSS  -  7YEARS </li></ul><ul><li>BLURRING OF VISI...
<ul><li>HEARING LOSS BOTH EARS-  </li></ul><ul><ul><li>7 years. </li></ul></ul><ul><ul><li>Insidious onset,  </li></ul></u...
<ul><li>WEAKNESS IN GETTING  UP  FROM SQUATTING  POSITION </li></ul><ul><li>BUCKLING OF KNEES </li></ul><ul><li>INABILITY ...
<ul><li>H/O </li></ul><ul><li>DIMNESS OF VISION </li></ul><ul><li>COLOUR VISION DEFECT </li></ul><ul><li>BILATERAL HEARING...
<ul><li>NO  H/O </li></ul><ul><li>OTHER CRANIAL NERVE INVOLVEMENT </li></ul><ul><li>RADIATING PAIN IN UPPER AND LOWER LIMB...
<ul><li>PAST HISTORY: </li></ul><ul><li>NO H/O DELAYED MILE STONES </li></ul><ul><li>NO H/O BIRTH ASPHYXIA </li></ul><ul><...
<ul><li>A 14/F - hearing loss-7 years , diminished visual acuity -6years, weakness of all 4 limbs-2years  </li></ul><ul><l...
<ul><li>1)MADRAS MOTOR NEURON DISEASE </li></ul><ul><li>2)BROWN VIALETTO VAN LAERE SYNDROME </li></ul><ul><li>3)JUVENILE O...
<ul><li>GENERAL EXAMINATION:  </li></ul><ul><li>pt conscious, oriented,communicative, thin built, mod nourished. </li></ul...
<ul><li>Fasciculations in neck and tongue present </li></ul><ul><li>Scoliosis present with convexity to right and disappea...
 
<ul><li>VITAL SIGNS: pulse 75/min </li></ul><ul><li>BP 120/70mmHg </li></ul><ul><li>RR 20/min </li></ul><ul><li>Temperatur...
NERVE RIGHT LEFT OPTIC  VISUAL ACUITY 6/60NIG,NIP 6/60NIG,NIP FIELD OF VISION N N COLOUR DEFECTIVE DEFECTIVE FUNDUS OPTIC ...
VAGUS SENSORY N N MOTOR GAG DEFECTIVE GAG DEFECTIVE SPINAL ACCESSORY WEAKNESS OF SCM WEAKNESS OF SCM  HYPOGLOSSAL WEAKNESS...
 
 
 
<ul><li>BULK OF MUSCLE – REDUCED BOTH UPPER AND LOWER LIMBS BILATERALLY. </li></ul><ul><li>FASCICULATIONS SEEN OVER TRUNK ...
 
 
 
 
<ul><li>REFLEXES;  </li></ul><ul><li>SUPERFICIAL-NORMAL BOTH SIDE  INCLUDING  PLANTAR </li></ul><ul><li>DEEP TENDON REFLEX...
<ul><li>CVS- S1 S2 HEARD. No murmur </li></ul><ul><li>RS- NVBS HEARD </li></ul><ul><li>P/A-SOFT </li></ul><ul><li>JVP-NORM...
<ul><li>BLOOD SUGAR-85 mg </li></ul><ul><li>Blood urea-27 mg </li></ul><ul><li>Serum creatinine-0.6mg </li></ul><ul><li>TC...
<ul><li>VDRL-NONREACTIVE </li></ul><ul><li>HIV-NEGATIVE </li></ul><ul><li>ECG-WNL  </li></ul><ul><li>CXR PAVIEW-WNL </li><...
<ul><li>ENT OPINION;  </li></ul>
 
 
 
 
<ul><li>Since the patient had wasting and weakness of both upper and lower limbs associated with hypotonia & fasciculation...
<ul><li>OGTT-NORMAL </li></ul><ul><li>NCS-NO OBVIOUS ABNORMALITY </li></ul><ul><li>EMG- denervation pattern </li></ul>
<ul><li>MADRAS MOTOR NEURON DISEASE VARIANT </li></ul>
<ul><li>VARIANTS OF MOTOR NEURON DISEASE </li></ul><ul><li>1)MADRAS MOTOR NEURON DISEASE </li></ul><ul><li>2)MONOMELIC AMY...
<ul><li>FIRST REPORTED BY MEENAKSHI SUNDARAM,JAGANNATHAN AND RAMAMOORTHI IN 1970S. </li></ul><ul><li>SUB GROUP OF MND FIRS...
<ul><li>AGE OF ONSET 10-30 YEARS </li></ul><ul><li>PREDOMINANTLY AFFECTS MALES </li></ul><ul><li>BENIGN COURSE </li></ul><...
<ul><li>BIOCHEMICAL PARAMETER- IMPAIRED OGTT </li></ul><ul><li>REDUCED SERUM CITRATE </li></ul><ul><li>INCREASED SERUM PYR...
 
<ul><li>FAZIO LONDE DISEASE-AR,EARLY AGE AT ONSET,RARITY OF PYRAMIDAL SIGNS, NORMAL HEARING,RAPIDLY PROGRESSIVE FATAL COUR...
<ul><li>ALSO KNOWN AS BROWN SYNDROME </li></ul><ul><li>CHARECTERISED BY DEAFNESS AND PARALYSIS OF MUSCLES OF FACE, NECK, S...
<ul><li>ABSTRACT </li></ul><ul><li>A 13-YEAR-OLD CHINESE BOY WITH  FEATURES OF THE MADRAS PATTERN </li></ul><ul><li>OF MOT...
<ul><li>PATIENTS WITH YOUNG AGE OF ONSET </li></ul><ul><li>FEATURES OF SLOW PROGRESSIVE LMN </li></ul><ul><li>BENIGN NATUR...
<ul><li>MMNDV IS A CLINICAL DIAGNOSIS </li></ul>
<ul><li>THANK U </li></ul>
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A Case of Madras Motor Neurone Disease

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A Case of Madras Motor Neurone Disease

  1. 1. DR.K.MANOJKUMAR PROF.DR.GOWRISHANKAR UNIT
  2. 3. <ul><li>A 14 YEAR OLD FEMALE CAME WITH </li></ul><ul><li>C/O HEARING LOSS - 7YEARS </li></ul><ul><li>BLURRING OF VISION -6years </li></ul><ul><li>WEAKNESS OF ALL 4 LIMBS-2YEARS </li></ul>
  3. 4. <ul><li>HEARING LOSS BOTH EARS- </li></ul><ul><ul><li>7 years. </li></ul></ul><ul><ul><li>Insidious onset, </li></ul></ul><ul><ul><li>slowly progressive. </li></ul></ul><ul><li>BLURRING OF VISION- </li></ul><ul><ul><li>6years,gradual loss of vision, </li></ul></ul><ul><ul><li>painless,more for distant vision. </li></ul></ul><ul><li>WEAKNESS OF ALL 4 LIMBS- </li></ul><ul><ul><li>2 years,initially pt had weakness of both lower limbs which then progressed to weakness of both upper limbs </li></ul></ul>
  4. 5. <ul><li>WEAKNESS IN GETTING UP FROM SQUATTING POSITION </li></ul><ul><li>BUCKLING OF KNEES </li></ul><ul><li>INABILITY TO GRIP CHAPPALS </li></ul><ul><li>TRIPPING OF TOES </li></ul><ul><li>DIFFICULTY IN COMBING HAIR </li></ul><ul><li>WEAKNESS IN LIFTING HANDS ABOVE THE SHOULDER </li></ul><ul><li>WEAKNESS IN MIXING FOOD </li></ul><ul><li>FLAIL LIMBS </li></ul><ul><li>THINNING OF MUSCLES BOTH UPPER AND LOWER LIMBS </li></ul><ul><li>TWITCHING OF MUSCLES </li></ul>
  5. 6. <ul><li>H/O </li></ul><ul><li>DIMNESS OF VISION </li></ul><ul><li>COLOUR VISION DEFECT </li></ul><ul><li>BILATERAL HEARING LOSS </li></ul><ul><li>MILD WEAKNESS IN TURNING OF HEAD TO LEFT </li></ul><ul><li>OR RIGHT,L>R </li></ul><ul><li>DIFFICULTY IN MARSHALLING OF FOOD </li></ul>
  6. 7. <ul><li>NO H/O </li></ul><ul><li>OTHER CRANIAL NERVE INVOLVEMENT </li></ul><ul><li>RADIATING PAIN IN UPPER AND LOWER LIMBS </li></ul><ul><li>DIURNAL VARIATION </li></ul><ul><li>SENSORY LOSS </li></ul><ul><li>SEIZURES </li></ul><ul><li>UNSTEADINESS WHILE WALKING </li></ul><ul><li>AUTONOMIC SYSTEM INVOLVEMENT </li></ul><ul><li>TRAUMA </li></ul><ul><li>EXANTHEMATOUS FEVER </li></ul>
  7. 8. <ul><li>PAST HISTORY: </li></ul><ul><li>NO H/O DELAYED MILE STONES </li></ul><ul><li>NO H/O BIRTH ASPHYXIA </li></ul><ul><li>NO H/O DM,HT,TB,ALLERGIES </li></ul><ul><li>FAMILY HISTORY: BORN OF 3 RD DEGREE CONSANG.MARRIAGE.1 SIBLING.NORMAL </li></ul><ul><li>NO H/O SIMILAR ILLNESS IN FAMILY </li></ul><ul><li>MENSTRUAL HIST: ATTAINED MENARCHE </li></ul>
  8. 9. <ul><li>A 14/F - hearing loss-7 years , diminished visual acuity -6years, weakness of all 4 limbs-2years </li></ul><ul><li>H/O both proximal and distal muscle involvement </li></ul><ul><li>Distal> proximal </li></ul><ul><li>H/O twitching of muscle in trunk,arm,neck and tongue </li></ul><ul><li>No sensory system involvement </li></ul>
  9. 10. <ul><li>1)MADRAS MOTOR NEURON DISEASE </li></ul><ul><li>2)BROWN VIALETTO VAN LAERE SYNDROME </li></ul><ul><li>3)JUVENILE ONSET ALS </li></ul><ul><li>4)SPINAL MUSCULAR ATROPHY </li></ul><ul><li>5)FAZIO LONDE DISEASE </li></ul>
  10. 11. <ul><li>GENERAL EXAMINATION: </li></ul><ul><li>pt conscious, oriented,communicative, thin built, mod nourished. </li></ul><ul><li>No pallor/icterus/clubbing/pedal edema/lymphadenopathy </li></ul><ul><li>No thyromegaly </li></ul><ul><li>Height neck ratio 13 </li></ul><ul><li>No neurocutaneous markers </li></ul>
  11. 12. <ul><li>Fasciculations in neck and tongue present </li></ul><ul><li>Scoliosis present with convexity to right and disappears on bending forward or sitting </li></ul><ul><li>wasting of muscles in upper and lower limbs </li></ul><ul><li>Genu recurvatum of left lower limb </li></ul>
  12. 14. <ul><li>VITAL SIGNS: pulse 75/min </li></ul><ul><li>BP 120/70mmHg </li></ul><ul><li>RR 20/min </li></ul><ul><li>Temperature-normal </li></ul><ul><li>HR-74/min </li></ul><ul><li>PUPIL 3mm.sluggish response to light </li></ul>
  13. 15. NERVE RIGHT LEFT OPTIC VISUAL ACUITY 6/60NIG,NIP 6/60NIG,NIP FIELD OF VISION N N COLOUR DEFECTIVE DEFECTIVE FUNDUS OPTIC ATROPHY OPTIC ATROPHY FACIAL SENSORY N N MOTOR MILD LMN WEAKNESS MILD LMN WEAKNESS VESTIBULOCOCHLEAR RINNES TEST AC>BC AC>BC WEBERS TEST NO LATERALISATION NO LATERALISATION SCHWABACH TEST REDUCED REDUCED VESTIBULAR TEST N N
  14. 16. VAGUS SENSORY N N MOTOR GAG DEFECTIVE GAG DEFECTIVE SPINAL ACCESSORY WEAKNESS OF SCM WEAKNESS OF SCM HYPOGLOSSAL WEAKNESS AND WASTING PRESENT PRESENT FASCICULATION Y Y
  15. 20. <ul><li>BULK OF MUSCLE – REDUCED BOTH UPPER AND LOWER LIMBS BILATERALLY. </li></ul><ul><li>FASCICULATIONS SEEN OVER TRUNK MUSCLES,NECK AND TONGUE </li></ul><ul><li>TONE-HYPOTONIA OF ALL 4 LIMBS </li></ul><ul><li>POWER 4- IN UPPER LIMBS EXCEPT HAND MUSCLES 3 </li></ul><ul><li>POWER 4 IN LOWER LIMBS EXCEPT 4- IN ANKLE. </li></ul>
  16. 25. <ul><li>REFLEXES; </li></ul><ul><li>SUPERFICIAL-NORMAL BOTH SIDE INCLUDING PLANTAR </li></ul><ul><li>DEEP TENDON REFLEX- ALL DTR SLUGGISH </li></ul><ul><li>EXAMINATION OF SENSORY SYSTEM-NORMAL </li></ul><ul><li>CEREBELLAR FUNCTION TEST-NORMAL </li></ul><ul><li>PERIPHERAL NERVES-NOT THICKENED </li></ul>
  17. 26. <ul><li>CVS- S1 S2 HEARD. No murmur </li></ul><ul><li>RS- NVBS HEARD </li></ul><ul><li>P/A-SOFT </li></ul><ul><li>JVP-NORMAL </li></ul><ul><li>CAROTIDS-NORMAL </li></ul>
  18. 27. <ul><li>BLOOD SUGAR-85 mg </li></ul><ul><li>Blood urea-27 mg </li></ul><ul><li>Serum creatinine-0.6mg </li></ul><ul><li>TC-4,500mg,DC-P-57,L-40 </li></ul><ul><li>HB-12.8mg, 39% </li></ul><ul><li>RBC -4.4, PLATELET-1.2LAKH </li></ul><ul><li>SODIUM-139meq/l </li></ul><ul><li>Potassium-4meq/l </li></ul>
  19. 28. <ul><li>VDRL-NONREACTIVE </li></ul><ul><li>HIV-NEGATIVE </li></ul><ul><li>ECG-WNL </li></ul><ul><li>CXR PAVIEW-WNL </li></ul><ul><li>SERUM CPK-WNL </li></ul><ul><li>URINE R/E -WNL </li></ul>
  20. 29. <ul><li>ENT OPINION; </li></ul>
  21. 34. <ul><li>Since the patient had wasting and weakness of both upper and lower limbs associated with hypotonia & fasciculations along with involvement of 2 nd ,7 th ,8 th ,10 th ,11 th ,12 th cranial nerve involvement ,the possibility of motor neuron disease ,madras variant was considered. </li></ul><ul><li>PLANNED </li></ul><ul><li>NCS </li></ul><ul><li>EMG </li></ul><ul><li>OGTT </li></ul>
  22. 35. <ul><li>OGTT-NORMAL </li></ul><ul><li>NCS-NO OBVIOUS ABNORMALITY </li></ul><ul><li>EMG- denervation pattern </li></ul>
  23. 36. <ul><li>MADRAS MOTOR NEURON DISEASE VARIANT </li></ul>
  24. 37. <ul><li>VARIANTS OF MOTOR NEURON DISEASE </li></ul><ul><li>1)MADRAS MOTOR NEURON DISEASE </li></ul><ul><li>2)MONOMELIC AMYOTROPHY </li></ul><ul><li>3)THE WASTED LEG SYNDROME </li></ul><ul><li>4)JUVENILE MND OF NORTH INDIA </li></ul><ul><li>5)GUAMIN ALS </li></ul><ul><li>6)CRURAL ALS </li></ul><ul><li>7)HEMIPLEGIC TYPE </li></ul><ul><li>8)MND WITH DEMENTIA </li></ul><ul><li>9)MND WITH PARKINSONISM </li></ul>
  25. 38. <ul><li>FIRST REPORTED BY MEENAKSHI SUNDARAM,JAGANNATHAN AND RAMAMOORTHI IN 1970S. </li></ul><ul><li>SUB GROUP OF MND FIRST DESCRIBED IN MADRAS IN YOUNGER AGE GROUP </li></ul><ul><li>ABOUT 150 CASES REPORTED IN THE WORLD </li></ul><ul><li>LESS THAN 25 CASES ONLY BELONGS TO MMNDV </li></ul>
  26. 39. <ul><li>AGE OF ONSET 10-30 YEARS </li></ul><ul><li>PREDOMINANTLY AFFECTS MALES </li></ul><ul><li>BENIGN COURSE </li></ul><ul><li>ABSENCE OF FAMILY HISTORY </li></ul><ul><li>GRADUAL ASYMMETRIC INVOLVEMENT OF ALL 4 LIMBS. </li></ul><ul><li>WEAKNESS OF FASCIAL AND BULBAR MUSCLES IN 60% </li></ul><ul><li>MOST STRIKING IS SENSORINEURAL DEAFNESS </li></ul>
  27. 40. <ul><li>BIOCHEMICAL PARAMETER- IMPAIRED OGTT </li></ul><ul><li>REDUCED SERUM CITRATE </li></ul><ul><li>INCREASED SERUM PYRUVATE DUE TO ALTERED CARBOHYDRATE METABOLISM </li></ul>
  28. 42. <ul><li>FAZIO LONDE DISEASE-AR,EARLY AGE AT ONSET,RARITY OF PYRAMIDAL SIGNS, NORMAL HEARING,RAPIDLY PROGRESSIVE FATAL COURSE </li></ul><ul><li>SPORADIC ALS-OTHER FEATURES LIKE CHOREA,CEREBELLAR ATAXIA, ABSENCE OF DEAFNESS, LATE INVOLVEMENT OF BULBAR NUCLEI </li></ul>
  29. 43. <ul><li>ALSO KNOWN AS BROWN SYNDROME </li></ul><ul><li>CHARECTERISED BY DEAFNESS AND PARALYSIS OF MUSCLES OF FACE, NECK, SHOULDER </li></ul><ul><li>RESPIRATORY FAILURE IS THE MODE OF DEATH </li></ul><ul><li>GENE AFFECTED IS C20ORF54. </li></ul><ul><li>ABOVE GENE INVOLVED IN RIBOFLAVIN TRANSPORT </li></ul><ul><li>POOR PROGNOSIS DUE TO RAPID PROGRESSION </li></ul>
  30. 44. <ul><li>ABSTRACT </li></ul><ul><li>A 13-YEAR-OLD CHINESE BOY WITH FEATURES OF THE MADRAS PATTERN </li></ul><ul><li>OF MOTOR NEURON DISEASE (MMND) PRESENTED TO US. THE BENIGN </li></ul><ul><li>FOCAL ATROPHY OF THE EXTREMITIES, ESPECIALLY THE UPPER, AND </li></ul><ul><li>ASSOCIATED HEARING IMPAIRMENT WERE IMPORTANT CLUES TO THE </li></ul><ul><li>CLINICAL DIAGNOSIS. A RECENT PATHOLOGICAL REPORT SUGGESTS </li></ul><ul><li>INFLAMMATORY AETIOLOGY NEEDS TO BE CONSIDERED FOR THIS </li></ul><ul><li>TYPE OF MOTOR NEURON DISEASE . THEREFORE, TREATMENT WITH </li></ul><ul><li>IV IMMUNOGLOBULIN 400MG/KG ONCE DAILY WAS ADMINISTERED </li></ul><ul><li>FOR 5 DAYS, AND IMPROVEMENT OF SYMPTOMS WAS NOTED AT </li></ul><ul><li>6 MONTHS OF FOLLOW UP. </li></ul><ul><li>NATL MED J INDIA 2004 ; </li></ul>
  31. 45. <ul><li>PATIENTS WITH YOUNG AGE OF ONSET </li></ul><ul><li>FEATURES OF SLOW PROGRESSIVE LMN </li></ul><ul><li>BENIGN NATURE </li></ul><ul><li>PRESENCE OF SENSORINEURAL DEAFNESS </li></ul><ul><li>PRESENCE OF OPTIC ATROPHY </li></ul><ul><li>WITH LOWER CRANIAL NERVE INVOLVEMENT </li></ul><ul><li>WITHOUT SENSORY,CEREBELLAR,COGNITIVE INVOLVEMENT </li></ul><ul><li>THINK OF MMNDV </li></ul>
  32. 46. <ul><li>MMNDV IS A CLINICAL DIAGNOSIS </li></ul>
  33. 47. <ul><li>THANK U </li></ul>
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