CNS CASE PRESENTATION

• NAME- X• AGE- 30 YRS• SEX- Female• ADDRESS- Sholingar, Tiruttani.• HANDEDNESS- Right handed.• OCCUPATION- Unemployed.• EDUCATION- 5th class.

• PRESENTING COMPLAINTS- Weakness of all 4 limbs for the past 17 years which is progressive.

• HISTORY OF PRESENTING ILLNESS- Patient was apparently normal before 13 yrs of age when she had a slip and fall around 11 AM, with no h/o head injury, headache, ENT bleed. On the same day evening patient had an episode of seizure involving all 4 limbs with tongue bite, LOC and postictal confusion taken to hospital, injections were given and discharged.

• No further episode of seizure.• 1 month after the seizure patient noticed

weakness of the right lower limb in the form of difficulty in gripping chappals, and slipping of chappals knowingly, difficulty in brisk walking, difficulty in clearing the ground, frequent tripping and fall which is of insidious onset and gradually progressive (chronic) over the past 17 yrs. there is no difficulty in getting up from sitting position.

MONOPARESIS- Causes

Check for generalised / isolated group of muscles

Check for atrophy Absence- cerebral cortex, vascular(thrombotic

or embolic) Presence- Brachial- birth trauma, syringomyelia

ALS : Crural(leg)-trauma, tumor, myelitis,MS, progressive muscular atrophy.

• 15 days later patient noticed weakness of right upper limb in the form of difficulty in mixing food, difficulty in hooking and unhooking clothes and difficulty in gripping objects, insidious onset and progressive, there was no difficulty in lifting the arm above shoulder, no weakness of left upper limb and lower limb.

• 30 days later patient noticed weakness of left lower limb and upper limb simultaneously in the form of difficulty in holding objects, hooking, unhooking and gripping chappals weakness is insidious and progressive till now.

• At the same time patient noticed thinning of hands and calf and feet insidious and progressive.

Onset of weakness

• Sudden: stroke, toxins, trauma• Progressive over days: infection, inflammation,

demyelination, metabolic• Progressive over weeks: tumors• Progressive over months to years:

degenerative – MND, muscular dystrophy

Symmetry of weakness

• Symmetric: intramedullary lesions, transverse myelitis, vascular, hereditary, metabolic, degenerative

• Asymmetric: extramedullary lesions, mononeuritis, plexopathies,

Proximal vs distal

• Proximal: myopathy, muscular dystrophy, myasthenia, myositis

• Distal: peripheral neuropathy, distal muscular dystrophies, inclusion body myositis

What is Elsberg Phenomenon?

• In cervical cord lesions, one arm becomes weak followed by ipsilateral leg, then contralateral leg and finally contralateral arm in U shape

• Seen in extra dural spinal cord tumors

• There is no difficulty in getting up from chair, lifting arms above shoulders. No difficulty in getting up from lying position and rolling sideways and lifting the head from bed. There is no diurnal variation.

• No h/o muscle twitching.• No h/o stiffness, limbs are floppy.• Patient is currently able to walk with out support.

Gives h/o swaying backwards on standing without support. no h/o clumsiness of movements, no h/o swaying while walking

• H/o involuntary movements of hands(tremors) on gripping objects tightly, not present at rest or during motion for the past 6 months.

Symptoms of NMJ disease?

• Girdle weakness without sensory changes is indicative of myopathy & distal weakness is indicative of neuropathy.

Fluctuating weakness & fatiguability Weakness made worse by activity. Special vulnerability of certain muscles(eye

lids, muscles of eye, face)

Causes of Swaying?

Cerebellar ataxia Posterior column disease(sensory ataxia) Vertiginous ataxia Thalamic ataxiaProximal muscle weakness

Tremors- types ?

• Physiologic- 8-13 Hz • Parkinson –rest, 3-5Hz• Cerebellar- intention, 2-4 Hz • Essential- familial, 4-8Hz • Postural – action, 5-8Hz• Orthostatic – irregular, 4-8Hz• Dystonic-irregular

• At the same time patient noticed worsening of difficulty in walking with out light at night or in a dark room and through narrow passage ways and swaying on washing face, has to lean over support to wash the face. No h/o sensation of walking over cotton wool.

• Patient is able to fell clothes, differentiate between hot and cold water, no h/o numbness, no h/o altered pain perception, no dysesthesias. c/o generalized myalgia on exertion.

Exertional Pain- causes?

• Glycogen storage disorders• Inflammatory myopathies • Infectious myositis• Drugs

• Patient is able to perceive smell, no h/o blurring of vision, able to identify red and green colors, no diplopia, no numbness over the face able to differentiate hot and cold, no difficulty in chewing food, no difficulty in closing eyes, no dribbling of saliva, able to blow the cheeks, no decreased or altered sensation of taste, no h/o of hearing difficulty and reeling sensation in ears, no giddiness, no change of voice, no h/o nasal regurgitation, able to shrug shoulders, able to turn head sideways, able to mix food well with tongue.

• Patient is able to feel bladder fullness, able to hold, initiate and control voiding, no h/o urgency, hesitancy or incontinence. No h/o constipation or diarrhea.

• No h/o giddiness on getting up and altered sweating.

• No h/o delusions, illusions or hallucinations.• No h/o memory disturbances.• No h/o toxin exposure, industrial exposure,

poison consumption, hospital admission medication intake before the symptom onset.

Symptoms sugg. Of spinal cord?

• Can present as central cord, hemi cord posterior cord, anterior cord or tranverse myelitis

• Definite motor, sensory level • Bladder and bowel involvement.

• Past h/o – h/o 1 episode of seizure at 13 years of age. Not a k/c/o Diabetes, tuberculosis, PTB, bronchial asthma.

• Treatment h/o- On vitamin tablets.• Perinatal and developmental h/o- FTNVD, cried

immediately after birth, achieved mile stones normally, discontinued education due to poor scholastic performance.

• Surgical h/o- no h/o previous surgeries.• Personal h/o- takes mixed diet, bowel and

bladder habits normal no substance abuse.

Nutritional causes

• Thiamine (B1)• Niacin (B3)• Pyridoxine (B6)- deficiency and excess• Pantothenic acid • Folate and B12 • Vitamin E

Seizures in quadriparesis?

• Cerebral palsy • Paraneoplastic • Phakomatoses

What is cerebal palsy?

• Non progressive neurological deficit since birth

• Congenital abnormality of motor function • H/O insult in prenatal, perinatal, postnatal

period • Marked prematurity • Many but not all have epilepsy in addition • Germinal matrix(sub ependymal) hemorrhage,

peri ventricular leukomalacia, HIE, kernicterus

• Family h/o- No h/o similar complaint in the family, 5th child in the family, had 2 elder brothers and 2 elder and I younger sister all are healthy.

• STRUCTURES INVOLVED- PERIPHERAL NERVE – MOTOR FIBRE AND LONG FIBRE INVOLMENT.

• History summary- A 30 year old female with no co-morbidities with h/o of weakness of all 4 limbs, distal weakness, chronic onset, progressive for the past 17 years, asymmetric at onset, currently symmetric of LMN type, with no UMN features, with long fiber symptoms, with no symptoms of small fiber involvement, no cranial nerve involvement and no ANS involvement and cerebellar involvement.

• Systems involved- motor and sensory.• Distribution- distal weakness, asymmetric at

onset, symmetric now.• Nature of sensory involvement- long fiber.• No evidence of UMN involvement.• Temporal presentation- chronic and

progressive.• Evidence of hereditary neuropathy- lacking.• Associated medical conditions- nil.

• DIFFERENTIAL DIAGNOSIS- PERIPHERAL NEUROPATHY - HEREDITARY SENSORY MOTOR

NEUROPATHY. - CHRONIC INFLAMMATORY DEMYELINATING

POLYNEUROPATHY. - NURTITIONL.

Acute Vs Insidious Weakness

Acute – GBS, porphyria, Toxins, diptheria Sub acute – nutritional, alcoholic, toxins,

angiopathic Chronic – diabetes, CIDP, paraneoplastic,

paraprotein Long standing Heritable- CMT, Friedreich’s

ataxia Recurrent- CIDP, porphyria, Refsum’s ,HNPP

Symmetric Vs Asymmetric Weakness

• Symmetric – acquired- demyelinating : hereditary

• Asymmetric – radiculopathies, plexopathies, compressive mononeuropathy, multiple mononeuropathy.

Proximal Vs Distal Weakness?

• Proximal and Distal- acquired demyelinating • Distal- nutritional, metabolic, toxin• Proximal- polymyositis,porphyria

GENERAL EXAMINATION

• Conscious, oriented to time, place and person, afebrile.

• BMI- 20.9• No pallor, icterus, cyanosis, clubbing,

lymphadenopathy and pedal edema.• No peripheral nerve thickening.• No neurocutaneous markers.• Pescavus present in both feet.• Lower limbs are in inverted champagne bottle

appearance.

Skin/mucosa markers in PN?

• Angiokeratoma- Fabry disease • Photosensitive rash- Porphyria • Orange tonsils- Tangier disease • Icthyosis- Refsum disease • Mask facies- scleroderma • Leonine facies- leprosy

Pes cavus- significance?

• In early life,feet are pulled into talipes equinus (plantar deviation) due to disproportionate weakness of pretibial/peroneal muscles & unopposed action of calf muscles.

• During life,extensors of toes dorsiflex PP & flexors shorten the foot,heighten the arch,flex the DP leading to claw foot/pes cavus.

• PR- 74/Min, regular, normal volume and character.

• BP- 120/80 mm Hg in right UL in supine position.

- 110/80 mm Hg in right UL 3 min after standing.

• RR- 14/min, thoracoabdominal.• Temp- 98.4 f.

ANS involvement in PN?

• Diabetes mellitus • Amyloidosis • Porphyria • Congenital • GBS NOT seen in Radicular diseases.

CNS EXAMINATION• HIGHER MENTAL FUNCTIONS• MMS- 24/30.• SPEECH- comprehension, fluency, word

output, naming, repetition- normal. patient doesn’t know how to read and write.• Memory- immediate, short term, long term

memory is normal.• Reasoning, abstract thinking- normal.

CRANIAL NERVES

• I CN- able to appreciate smell.• II CN- visual acuity- 6/6. - color vision- normal. - confrontation testing- no field defect. - fundus- normal.• III, IV, VI CN- no ptosis, PERL, light reflex(direct

and indirect)-present, accomodation- present, extraocular movements - full, saccades, pursuits- normal. Conjugated eye movements- normal.

• V CN- sensory- normal. - muscles of mastication – normal.

• VII- taste ant 2/3- normal. - able to frown, close eyes tightly, no deviation

of angle of mouth, able to blow air.• VIII CN- Rinne’s test- AC>BC Weber’s test- no lateralization.• IX & X CN- uvula in midline, palatal movements-

present. Gag reflex- present bilaterally.• XI CN- able to shrug shoulders, able to turn head

side ways against resistance.• XII CN- no wasting, no fasciculations, no deviation

on protruding out.

CN involvement in PN ?

Olfactory- Refsum disease Optic- B12 deficiency, Refsum disease 3,4 ,6th –diabetes, Facial- GBS, leprosy 9,10th- GBS

• MOTOR SYSTEM• APPEARANCE- wasting of forearm and thenar and

hypothenar muscles of the hand with guttering of dorsum of hand., inverted champagne bottle appearance of lower limbs, foot drop present in both feet, pescavus guttering of dorsum of both feet present. No fasciculation, no muscle tenderness.

• BULK- RIGHT LEFT mid arm 23cms 23cms mid fore arm 17cms 17cms mid thigh 41cms 41cms mid calf 22cms 22cms

Denervation Vs Disuse atrophy?

• Denervation- reduces muscle volume by 75 to 80 %

• Disuse – does not reduce muscle volume by more than 25 to 30 %

• TONE RIGHT LEFTShoulder normal normalElbow hypotonia hypotoniaWrist hypotonia hypotoniaHip normal normalKnee hypotonia hypotoniaAnkle hypotonia hypotonia

• POWER- RIGHT LEFTShoulder(flexion, extension 5/5 5/5 adduction, abduction, IR,ER)Elbow (flexion, extension) 4+/5 4+/5Wrist(flexion, extension) 4/5 4/5Hand muscles- thumb- adduction, abduction, opposition,

flexion, extension- weak - FDP- weak - Flexor sublimus – weak - lumbricals- weak - palmar & dorsal interossi- weak

RIGHT LEFTHIP (flexion, extension 5/5 5/5 adduction, abduction, IR,ER)Knee (flexion, extension) 4/5 4/5Ankle(plantar flexion, 1/5 1/5 dorsiflexion, inversion, eversion)EHL 1/5 1/5

• REFLEXES• DEEP TENDON REFLEXES- RIGHT LEFTBiceps - -Triceps - -Supinator - -Knee jerk - -Ankle jerk - -

Areflexia/proprioception discordance

• Posterior column disease

• SUPERFICIAL REFLEXES- RIGHT LEFTCorneal present presentConjunctival present presentGag reflex present presentAbdominal(upper,lower) absent absentAnal reflex presentPlantar mute mute

UMN involvement with PN ?

• B12 deficiency • Copper deficiency • Adrenomyeloneuropathy(AMN) • HIV infection • Severe hepatic disease

• Primitive reflexes- absent.• Finger flexion jerk absent absent• Hoffman’s sign absent absent• Wartenberg’s sign absent absent

• SENSORY SYSTEM - pain, temperature normal - touch, pressure normal - vibration- duration of appreciation reduced in all the areas

when compared to examiner. - joint position sense- UL- normal LL- normal.Romberg’s sign- positive. - cortical sensory- tactile localization, two point discrimination, stereognosis,

graphesthesias- normal.

• Autonomic nervous system Postural drop in BP- absent. no features of horners syndrome. Carotid sinus reflex- absent.

• CEREBELLAR SYSTEM- Speech- normal. No nystagmus.

RIGHT LEFTFinger-nose, finger-finger normal normalWriting name normal normalDysdiadokinesia normal normalKnee-heel normal normalRebound phenomenon- absent absentTandem walking – not able to perform.

• Gait- high stepping gait.• SPINE AND CRANIUM- Movements of spine (flexion, extension,

rolling over bed)- normal. Vibration over spine- reduced compared to

examiner. No tenderness over spine.• No muscle tenderness.• No signs of meningeal irritation.

What is stamping gait ?

• Caused by impairment of joint position/ muscular kinesthetic sense

• Seen in lesions of peripheral nerves, posterior column of cord or medial lemnisci

• Recognised by stamp and stick • Brusqueness of movement of legs and

stamping of feet as the foot is forcibly brought down onto the floor.

• CVS- S1+ S2+• RS- NVBS, clear.• P/A- soft, no organomegaly, BS +.

• DIAGNOSIS- PERIPHERAL NEUROPATHY - HEREDITARY SENSORY MOTOR NEUROPATHY. - CHRONIC INFLAMMATORY DEMYELINATING

POLYNEUROPATHY.

NCS- uses in PN ?

• To diffentiate between axonal and demyelinating neuropathies.

• Demyelinating: GBS, DM, CIDP, diphtheria, MMN

• Axonal: toxic, metabolic, HIV, DM