DR.K.MANOJKUMARPROF.DR.GOWRISHANKAR

UNIT

A 14 YEAR OLD FEMALE CAME WITH

C/O HEARING LOSS - 7YEARS BLURRING OF VISION -6years WEAKNESS OF ALL 4 LIMBS-

2YEARS

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

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

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

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

PAST HISTORY: NO H/O DELAYED MILE

STONES NO H/O BIRTH ASPHYXIA NO H/O DM,HT,TB,ALLERGIES FAMILY HISTORY: BORN OF 3RD DEGREE

CONSANG.MARRIAGE.1 SIBLING.NORMAL NO H/O SIMILAR ILLNESS IN

FAMILY MENSTRUAL HIST: ATTAINED MENARCHE

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

1)MADRAS MOTOR NEURON DISEASE 2)BROWN VIALETTO VAN LAERE

SYNDROME 3)JUVENILE ONSET ALS 4)SPINAL MUSCULAR ATROPHY 5)FAZIO LONDE DISEASE

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

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

VITAL SIGNS: pulse 75/min BP 120/70mmHg RR 20/min Temperature-normal HR-74/min PUPIL 3mm.sluggish response to light

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

FACIALSENSORY 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

VAGUSSENSORY N N

MOTOR GAG DEFECTIVE GAG DEFECTIVE

SPINAL ACCESSORY

WEAKNESS OF SCM

WEAKNESS OF SCM

HYPOGLOSSAL

WEAKNESS AND WASTING

PRESENT PRESENT

FASCICULATION Y Y

MANOJ.wlmp

MOV00297.AVI

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.

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

CVS- S1 S2 HEARD. No murmur RS- NVBS HEARD P/A-SOFT JVP-NORMAL CAROTIDS-NORMAL

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

VDRL-NONREACTIVEHIV-NEGATIVEECG-WNL CXR PAVIEW-WNLSERUM CPK-WNLURINE R/E -WNL

ENT OPINION;

Since the patient had wasting and weakness of both upper and lower limbs associated with hypotonia & fasciculations along with involvement of 2nd,7th,8th ,10th,11th,12th cranial nerve involvement ,the possibility of motor neuron disease ,madras variant was considered.

PLANNED NCS EMG OGTT

OGTT-NORMAL NCS-NO OBVIOUS ABNORMALITY EMG- denervation pattern

MADRAS MOTOR NEURON DISEASE VARIANT

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

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

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

BIOCHEMICAL PARAMETER- IMPAIRED OGTT

REDUCED SERUM CITRATE INCREASED SERUM PYRUVATE DUE TO

ALTERED CARBOHYDRATE METABOLISM

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

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

ABSTRACTA 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;

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

MMNDV IS A CLINICAL DIAGNOSIS

THANK U