Case Discussion demyelinating diseases Central nervous system.pptx

case discussion on demyelination CNS

1. CASE DISCUSSION t

2. 36 year female 7 th standard Home maker Malaiyadipatty , Pudukottai Chief complaints: Benumbbed sensation left UL & LL – 30 days Benumbbed sensation right UL & LL – 25 days Difficulty in using right UL – 25 days Burning sensation in right UL and right side chest – 18 days

3. History of present illness: Patient was apparently normal around 40 days back. Patient developed fever which lasted for 1 day, low grade . Patient had treatment following that patient was normal. Around 6 days later, patient developed diarrhoea which lasted for 3 days , had around 7-8 episodes/ day. It was associated with cramping abdominal pain, not a/w vomiting. Patient had treatment for the above complaints Patient was asymptomatic for around 4 days

4. Around 4 days later, patient felt numbness in left UL 30 days back, following which she developed numbness in right UL for 25 days and history of burning sensation over right UL and right side of chest for 15 days . Patient was not able to feel the hot sensation of boiling milk and had thermal injury to right hand . These complaints were not a/w difficulty of walking in the dark or on uneven surfaces or cotton wool sensation while walking. Also no history of radiating pain over the back or to the limbs.

5. Patient also had difficulty in mixing food and buttoning and unbuttoning of blouse with right UL for the past 20 days followed by difficulty in combing hair, lifting objects from shelf with right UL (3-5 days later) and difficulty in standing from squatting and climbing stairs for the past 7 days . This was not a/w difficulty in holding slippers. History of feeling of heaviness of right UL was present. These complaints were not a/w difficulty in turning over on bed or lifting the head from pillow, twitching or thinning of muscles. No history of cramps or involuntary movements No history of diurnal variation of weakness

6. Patient was able to smell normally. No H/O diminished vision or haziness of vision No H/O double vision/ drooping of eyelids No H/O difficulty in chewing foods, decreased facial sensation No H/O difficulty in closing eyelids, deviation of angle of mouth, drooling of saliva from corners while chewing No H/O decreased hearing, giddiness, ringing sensation in ears No H/O difficulty in swallowing, nasal regurgitation, nasal intonation of voice No H/O difficulty in turning head side to side No H/L difficulty in clearing the food bolus in mouth using tongue and protruding tongue outside

7. No H/O difficulty in speech, difficulty in reaching objects, swaying while walking or tremors while using limbs No H/O bladder and bowel disturbances, postural giddiness, skin changes and sweating abnormalities No H/O loss of consciousness, headache, seizures, vomiting No H/O any recent trauma, dog bite, vaccination or loss of weight/ appetite No H/O previous similar episodes Patient has no known co-morbid illnesses (DM, HT, TB)

8. H/O of family planning surgery – 8 years back H/O surgery for pterygium – 6 years back No other family members have similar episodes. Pedigree chart

9. On examination… Patient is conscious, oriented, afebrile , no pallor/ icterus , no cyanosis/ clubbing, no pedal oedema, no generalized lymphadenopathy , BMI – 19.4 (kg/m 2 ) No neuro cutaneous markers, no rashes, hair loss, height – neck ratio – 12.6 Pulse – 86/min, regular, felt in all peripheral pulses BP – 120/80 mm Hg (supine), 114/80mm Hg (standing)

10. HIGHER FUNCTION right handed individual Conscious, oriented to time, place and person Memory – immediate, recent, remote (intact), MMSE – 26/30 (7 th standard) CRANIAL NERVES Olfatory – able to smell in both nostrils normally Optic nerve- Visual acuity - 20/25 , 20/25 . Fields and colour vision– normal, light reflex- normal, fundus - normal 3 rd , 4 th , 6 th nerve- no ptosis , extraocular movements – normal, light and accomodation reflex- normal Trigeminal nerve – motor and sensory examination- normal, corneal reflex – normal, jaw jerk - absent

11. Facial nerve- wrinkling of forehead, tight closure of lids, nasolabial folds, blowing of cheeks- normal, no asymmetry of face, taste sensation (ant 2/3 rd ) – normal Vestibulocochlear nerve- rinne’s test- AC>BC, Weber- no lateralization, ABC test- same as that of examiner Glossopharyngeal , vagus nerve- uvula in midline, palatal and pharyngeal reflex- equal on both sides Spinal accessory nerve- turning head side to side, flexing neck against resistance, shrugging shoulders – normal Hypoglossal nerve- tongue bulk- normal, movements – normal, no wasting, no fibrillation

12. SPINOMOTOR SYSTEM Bulk – normal, no wasting of muscles Tone Power Gait – circumduction gait, no involuntary movements Upper limb Flexor hypertonia Flexor hypertonia Lower limb Extensor hypertonia Extensor hypertonia Right Left U/L: shoulder 4- 4+ elbow 4- 4+ Wrist 4- 4+ Small muscles- hand Weak , hand grip (40%) Weak, hand grip (70%) LL: hip 4 4+ knee 4 4+ ankle 4 4+

13. Superficial reflexes: right left Corneal + + Conjuctival + + Pharyngeal (gag) + + abdominal + + palntar extensor extensor

14. Deep tendon reflex: right left Jaw jerk - - Biceps reflex 2+ 3+ Triceps reflex 2+ 3+ Supinator reflex 2+ 3+ Finger flexion reflex 2+ 3+ Knee jerk 3+ 2+ Ankle reflex 3+ 2+

15. Sensory system: Pain, touch, temperature sensation hypoesthesia compared to left side hyperesthesia compared to left side

16. Vibration, joint position sense – normal Romberg’s sign – negative Cortical sensation- intact Cerebellum- normal on examination Autonomic nervous system- normal Spine & cranium- normal No meningeal signs Examination of cardiovascular system- normal Respiratory system- normal vesicular breath sounds Abdomen & pelvis- soft, no organomegaly

17. INVESTIGATIONS: Blood sugar- 90mg/dl Urea- 37mg/dl Creatinine - 1.2mg/dl Sodium- 142mEq/L Potassium- 3.2mEq/L Chloride- 106mEq/L Urine routine- normal Complete blood count- normal HIV/ HbsAg / anti HCV- non reactive Autoimmune profile – normal CSF analysis- patient did not give consent

18. IMAGING:

19. VEP – P100 latency- left- 108.1ms, right- 106.3ms

20. Serum aquaporin 4 antibody- positive TREATMENT: Patient’s symptoms did not improve with steroids Sensory symptoms improved on the third day of IVIG Advised to follow up with CD 19 levels at next visit

21. Aquaporins in neurology: The aquaporins are small, integral membrane transport proteins Their primary function is to facilitate water movement across cell membranes in response to osmotic gradients. Around 19 aquaporins have been identified. Aquaporin 1 is expressed in choroid plexus Aquaporin 4 is expressed in astrocyte foot process, spinal cord, eye, olfactory epithelium

22. PATHOGENESIS OF NEUROMYELITIS OPTICA

23. Aquaporin 4 antibody (IgG1) Sensitivity - 68–91% Specificity - 85–99%

24. Neuroimaging findings in NMO

25. NMOSD diagnostic criteria 2015

26. TREATMENT Acute phase: Iv methylprednisolone followed by oral steroid taper over 8 weeks Plasma exchange IVIg Recent advancements in acute management C1 esterase inhibitor- CINRYZE Eculizumab - complement inhibitor (C5)

27. Preventive treatment: 1. Azathoprine 2. Mycophenalate mofetil 3. Rituximab (375mg/m2 * every weekly for 4 weeks or 1000mg 2 doses 2 weeks apart, monitor with CD19/20 antibody levels, scheduled infusions every 6 months)