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A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
A Case of Madras Motor Neurone Disease
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A Case of Madras Motor Neurone Disease

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  • 1. DR.K.MANOJKUMAR PROF.DR.GOWRISHANKAR UNIT
  • 2.  
  • 3.
    • A 14 YEAR OLD FEMALE CAME WITH
    • C/O HEARING LOSS - 7YEARS
    • BLURRING OF VISION -6years
    • WEAKNESS OF ALL 4 LIMBS-2YEARS
  • 4.
    • HEARING LOSS BOTH EARS-
      • 7 years.
      • Insidious onset,
      • slowly progressive.
    • BLURRING OF VISION-
      • 6years,gradual loss of vision,
      • painless,more for distant vision.
    • WEAKNESS OF ALL 4 LIMBS-
      • 2 years,initially pt had weakness of both lower limbs which then progressed to weakness of both upper limbs
  • 5.
    • WEAKNESS IN GETTING UP FROM SQUATTING POSITION
    • BUCKLING OF KNEES
    • INABILITY TO GRIP CHAPPALS
    • TRIPPING OF TOES
    • DIFFICULTY IN COMBING HAIR
    • WEAKNESS IN LIFTING HANDS ABOVE THE SHOULDER
    • WEAKNESS IN MIXING FOOD
    • FLAIL LIMBS
    • THINNING OF MUSCLES BOTH UPPER AND LOWER LIMBS
    • TWITCHING OF MUSCLES
  • 6.
    • H/O
    • DIMNESS OF VISION
    • COLOUR VISION DEFECT
    • BILATERAL HEARING LOSS
    • MILD WEAKNESS IN TURNING OF HEAD TO LEFT
    • OR RIGHT,L>R
    • DIFFICULTY IN MARSHALLING OF FOOD
  • 7.
    • NO H/O
    • OTHER CRANIAL NERVE INVOLVEMENT
    • RADIATING PAIN IN UPPER AND LOWER LIMBS
    • DIURNAL VARIATION
    • SENSORY LOSS
    • SEIZURES
    • UNSTEADINESS WHILE WALKING
    • AUTONOMIC SYSTEM INVOLVEMENT
    • TRAUMA
    • EXANTHEMATOUS FEVER
  • 8.
    • PAST HISTORY:
    • NO H/O DELAYED MILE STONES
    • NO H/O BIRTH ASPHYXIA
    • NO H/O DM,HT,TB,ALLERGIES
    • FAMILY HISTORY: BORN OF 3 RD DEGREE CONSANG.MARRIAGE.1 SIBLING.NORMAL
    • NO H/O SIMILAR ILLNESS IN FAMILY
    • MENSTRUAL HIST: ATTAINED MENARCHE
  • 9.
    • A 14/F - hearing loss-7 years , diminished visual acuity -6years, weakness of all 4 limbs-2years
    • H/O both proximal and distal muscle involvement
    • Distal> proximal
    • H/O twitching of muscle in trunk,arm,neck and tongue
    • No sensory system involvement
  • 10.
    • 1)MADRAS MOTOR NEURON DISEASE
    • 2)BROWN VIALETTO VAN LAERE SYNDROME
    • 3)JUVENILE ONSET ALS
    • 4)SPINAL MUSCULAR ATROPHY
    • 5)FAZIO LONDE DISEASE
  • 11.
    • GENERAL EXAMINATION:
    • pt conscious, oriented,communicative, thin built, mod nourished.
    • No pallor/icterus/clubbing/pedal edema/lymphadenopathy
    • No thyromegaly
    • Height neck ratio 13
    • No neurocutaneous markers
  • 12.
    • Fasciculations in neck and tongue present
    • Scoliosis present with convexity to right and disappears on bending forward or sitting
    • wasting of muscles in upper and lower limbs
    • Genu recurvatum of left lower limb
  • 13.  
  • 14.
    • VITAL SIGNS: pulse 75/min
    • BP 120/70mmHg
    • RR 20/min
    • Temperature-normal
    • HR-74/min
    • PUPIL 3mm.sluggish response to light
  • 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
  • 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
  • 17.  
  • 18.  
  • 19.  
  • 20.
    • BULK OF MUSCLE – REDUCED BOTH UPPER AND LOWER LIMBS BILATERALLY.
    • FASCICULATIONS SEEN OVER TRUNK MUSCLES,NECK AND TONGUE
    • TONE-HYPOTONIA OF ALL 4 LIMBS
    • POWER 4- IN UPPER LIMBS EXCEPT HAND MUSCLES 3
    • POWER 4 IN LOWER LIMBS EXCEPT 4- IN ANKLE.
  • 21.  
  • 22.  
  • 23.  
  • 24.  
  • 25.
    • REFLEXES;
    • SUPERFICIAL-NORMAL BOTH SIDE INCLUDING PLANTAR
    • DEEP TENDON REFLEX- ALL DTR SLUGGISH
    • EXAMINATION OF SENSORY SYSTEM-NORMAL
    • CEREBELLAR FUNCTION TEST-NORMAL
    • PERIPHERAL NERVES-NOT THICKENED
  • 26.
    • CVS- S1 S2 HEARD. No murmur
    • RS- NVBS HEARD
    • P/A-SOFT
    • JVP-NORMAL
    • CAROTIDS-NORMAL
  • 27.
    • BLOOD SUGAR-85 mg
    • Blood urea-27 mg
    • Serum creatinine-0.6mg
    • TC-4,500mg,DC-P-57,L-40
    • HB-12.8mg, 39%
    • RBC -4.4, PLATELET-1.2LAKH
    • SODIUM-139meq/l
    • Potassium-4meq/l
  • 28.
    • VDRL-NONREACTIVE
    • HIV-NEGATIVE
    • ECG-WNL
    • CXR PAVIEW-WNL
    • SERUM CPK-WNL
    • URINE R/E -WNL
  • 29.
    • ENT OPINION;
  • 30.  
  • 31.  
  • 32.  
  • 33.  
  • 34.
    • 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.
    • PLANNED
    • NCS
    • EMG
    • OGTT
  • 35.
    • OGTT-NORMAL
    • NCS-NO OBVIOUS ABNORMALITY
    • EMG- denervation pattern
  • 36.
    • MADRAS MOTOR NEURON DISEASE VARIANT
  • 37.
    • VARIANTS OF MOTOR NEURON DISEASE
    • 1)MADRAS MOTOR NEURON DISEASE
    • 2)MONOMELIC AMYOTROPHY
    • 3)THE WASTED LEG SYNDROME
    • 4)JUVENILE MND OF NORTH INDIA
    • 5)GUAMIN ALS
    • 6)CRURAL ALS
    • 7)HEMIPLEGIC TYPE
    • 8)MND WITH DEMENTIA
    • 9)MND WITH PARKINSONISM
  • 38.
    • FIRST REPORTED BY MEENAKSHI SUNDARAM,JAGANNATHAN AND RAMAMOORTHI IN 1970S.
    • SUB GROUP OF MND FIRST DESCRIBED IN MADRAS IN YOUNGER AGE GROUP
    • ABOUT 150 CASES REPORTED IN THE WORLD
    • LESS THAN 25 CASES ONLY BELONGS TO MMNDV
  • 39.
    • AGE OF ONSET 10-30 YEARS
    • PREDOMINANTLY AFFECTS MALES
    • BENIGN COURSE
    • ABSENCE OF FAMILY HISTORY
    • GRADUAL ASYMMETRIC INVOLVEMENT OF ALL 4 LIMBS.
    • WEAKNESS OF FASCIAL AND BULBAR MUSCLES IN 60%
    • MOST STRIKING IS SENSORINEURAL DEAFNESS
  • 40.
    • BIOCHEMICAL PARAMETER- IMPAIRED OGTT
    • REDUCED SERUM CITRATE
    • INCREASED SERUM PYRUVATE DUE TO ALTERED CARBOHYDRATE METABOLISM
  • 41.  
  • 42.
    • FAZIO LONDE DISEASE-AR,EARLY AGE AT ONSET,RARITY OF PYRAMIDAL SIGNS, NORMAL HEARING,RAPIDLY PROGRESSIVE FATAL COURSE
    • SPORADIC ALS-OTHER FEATURES LIKE CHOREA,CEREBELLAR ATAXIA, ABSENCE OF DEAFNESS, LATE INVOLVEMENT OF BULBAR NUCLEI
  • 43.
    • ALSO KNOWN AS BROWN SYNDROME
    • CHARECTERISED BY DEAFNESS AND PARALYSIS OF MUSCLES OF FACE, NECK, SHOULDER
    • RESPIRATORY FAILURE IS THE MODE OF DEATH
    • GENE AFFECTED IS C20ORF54.
    • ABOVE GENE INVOLVED IN RIBOFLAVIN TRANSPORT
    • POOR PROGNOSIS DUE TO RAPID PROGRESSION
  • 44.
    • ABSTRACT
    • A 13-YEAR-OLD CHINESE BOY WITH FEATURES OF THE MADRAS PATTERN
    • OF MOTOR NEURON DISEASE (MMND) PRESENTED TO US. THE BENIGN
    • FOCAL ATROPHY OF THE EXTREMITIES, ESPECIALLY THE UPPER, AND
    • ASSOCIATED HEARING IMPAIRMENT WERE IMPORTANT CLUES TO THE
    • CLINICAL DIAGNOSIS. A RECENT PATHOLOGICAL REPORT SUGGESTS
    • INFLAMMATORY AETIOLOGY NEEDS TO BE CONSIDERED FOR THIS
    • TYPE OF MOTOR NEURON DISEASE . THEREFORE, TREATMENT WITH
    • IV IMMUNOGLOBULIN 400MG/KG ONCE DAILY WAS ADMINISTERED
    • FOR 5 DAYS, AND IMPROVEMENT OF SYMPTOMS WAS NOTED AT
    • 6 MONTHS OF FOLLOW UP.
    • NATL MED J INDIA 2004 ;
  • 45.
    • PATIENTS WITH YOUNG AGE OF ONSET
    • FEATURES OF SLOW PROGRESSIVE LMN
    • BENIGN NATURE
    • PRESENCE OF SENSORINEURAL DEAFNESS
    • PRESENCE OF OPTIC ATROPHY
    • WITH LOWER CRANIAL NERVE INVOLVEMENT
    • WITHOUT SENSORY,CEREBELLAR,COGNITIVE INVOLVEMENT
    • THINK OF MMNDV
  • 46.
    • MMNDV IS A CLINICAL DIAGNOSIS
  • 47.
    • THANK U

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