The document details a case discussion of a 36-year-old female homemaker presenting with numbness and burning sensations in her upper and lower limbs, difficulty using her right limb, and a history of fever and diarrhea preceding her neurologic symptoms. Investigations revealed positive serum aquaporin 4 antibodies, indicating possible neuromyelitis optica, and the patient was treated with pulse methylprednisolone and IVIG, with partial symptom improvement. The document also discusses aquaporins' role in neurology, diagnostic criteria for neuromyelitis optica, and recent advancements in treatment options.

1. CASE DISCUSSION
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2.  36 year female
 7th standard
 Home maker
 Malaiyadipatty, Pudukottai
 Chief complaints:
1. Benumbbed sensation left UL & LL – 30 days
2. Benumbbed sensation right UL & LL – 25 days
3. Difficulty in using right UL – 25 days
4. 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/m2)
 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 (7th 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
 3rd, 4th, 6th 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 2/3rd) – 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:

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

27.  Serum aquaporin 4 antibody- positive
 TREATMENT:
Pulse methyl prednisolone
1g/d (5 days)
IVIG 0.2g/kg/d/5 days
Discharged with Rituximab
1st dose
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

28. 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

31. PATHOGENESIS OF NEUROMYELITIS OPTICA

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

33. Neuroimaging findings in NMO

36. NMOSD diagnostic criteria 2015

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

38.  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)