A rare case of NEUROMYELITIS OPTICA SPECTRUM … rare case of NEUROMYELITIS OPTICA SPECTRUM DISORDER...
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Transcript of A rare case of NEUROMYELITIS OPTICA SPECTRUM … rare case of NEUROMYELITIS OPTICA SPECTRUM DISORDER...
A rare case A rare case of of NEUROMYELITIS NEUROMYELITIS OPTICA OPTICA
SPECTRUM DISORDERSPECTRUM DISORDERDr. Saran SharmaDr. Saran Sharma
MM--2 UNIT2 UNITProf SS unitProf SS unit
&Dept of neurology ICH&Dept of neurology ICH
CASE HISTORY
Manoj 1&1/2 yr old male child
first child of 3rd degree consanguineous parents
• Fever - 4 days
• Loose stools - 3 days
• Right hemiparesis - 1 day
• No history s/o any cranial nerve involvement.
• No h/o LOC/ seizures / head injury/ ear discharge.
• Past history-nil significant
• Family history-nil significant
• Developmentally normal child.
On Examination• Awake, irritable, afebrile
• No pallor/icterus/cyanosis/ clubbing/ pedal edema/ significant generalised lymphadenopathy
• No facial dysmorphism / neurocutaneous markers
VITALS :
HR – 84/min ; RR – 14/min
BP – 126/80mmHg ;
HC- 46 cm
CVS – S1S2 + , No murmurs.
RS – NVBS, no added sounds
P/A – soft, No organomegaly.
CNS examination
• Child irritable.
• Fixes and follows light.
• Pupils equal and reacting to light.
• EOM- full.
• No facial asymmetry.
• Other cranial nerves normal.
SPINOMOTOR SYSTEMRIGHT LEFT
BULK N N
TONE N
POWER UL 1/5 UL 5/5
LL 1/5 LL 5/5
REFLEXES
SUPERFICIAL
ABDOMINAL + +
PLANTAR
DEEP
BJ ++ ++
TJ ++ ++
SJ ++ ++
KJ ++ ++
AJ ++ +
SUMMARY
• Developmentally normal child
• Acute onset of right hemiparesis
• Hypertension
• Cerebrovascular accident
INITIAL INVESTIGATIONS
CBC Normal
RFT Normal
LFT Normal
ELECTROLYTES Normal
URINALYSIS Albumin NIL
Sugar NIL
Deposits NIL
ECG WNL
CXR Normal Study
CT Brain
• Left occipital region hypodensity
MRI brain
Provisional diagnosis
? Acute Demyelinating Encephalomyelits
? Atypical Posterior Reversible Encephalopathy syndrome
The child was started on:
• Inj Methylprednisolone 20mg/kg iv x 5 days
• anti hypertensive -- oral nifedipine
• H2 blockers
• meningitic dose of antibiotics
Work up for hypertension
• RFT, electrolytes- Normal
• Urine PCR- Normal, ASO titre - normal
• Renal doppler- Normal
• 24hr urinary VMA - Negative
• 8am S.Cortisol - normal
• USG & CT abdomen- Normal
• S. aldosterone and renin - normal
• During the course of treatment child developed dystonic posturing all 4limbs.
• Weakness of left lower limb in addition to right hemiparesis and head lag
•
BP
• Fundus - N
• Urgent CT brain- Diffuse parietal & occipital white matter hypodensities
Repeat CT Brain
B/L Parietal and Occipital white matter hypodensities
• DEMYELINATING DISEASE IN CHILDHOOD• ADEM
• MULTIPLE SCLEROSIS
• NMOS
• Atypical Posterior Reversible Encephalopathy syndrome
CSF analysisGlucose 57
Protein 12
Total cells 2
Gram stain Negative
Culture Negative
Latex agglutination test Negative
Electrophoresis No oligoclonal bands
CSF viral markers negative
CSF analysis
Aquaporin4 Ab in CSF Positive
Serum Ab to AQP4 Positive in 1: 10 dilution by immunofluroscent method
NMO
• Neuromyelitis optica is an inflammatory disorder -primarily affects the optic nerves and spinal cord.
• NMO IgG Ab 91% sensitive and 100% specific for clinically defined neuromyelitis optica (Lennon et al)
• No false positivity
Revised criteria for the diagnosis of NMO
DIAGNOSIS
NEUROMYELITIS OPTICA SPECTRUM DISORDER
(NMOS)
Eugene Devic, 1858-1930
French neurologist, who did the first systematic study of NMO described the sine qua non clinical characteristics, but his student Fernand Gault (1873-1936), reviewed sixteen cases and published in 1894
TYPES OF NMO
• Monophasic NMO –
ON, myelitis occurring within 1 month of each other
NMO IgG negative
• Relapsing NMO -
ON, transverse myelitis separated by months to years
accompanied by cerebral symptoms
80% positive for NMO IgG antibody
Aquaporin-4
• AQP4 is a water-channel protein (encoded by
the AQP4 gene that assembles as homotetramers in cell membranes.
• It appears to be critical in maintaining water homeostasis in settings of physiologic stress.
• Expressed in: basolateral membrane of principal CD cells in the kidney
throughout the brain particularly abundant in the optic nerves and spinal cord
Immunising event is not known
Peripheral Ig pool contains NMO-IgG
Ig have limited access to the CNS parenchyma
Astrocytic foot process (BBB)makes the extracellular
domain of aquaporin 4 channels accessible to any NMO-IgG
entering this region
Increased permeability of the BBB
Complement activation
Massive infiltration of leucocytes
Demyelination, severe neuronal injury, and necrosis hyalinisation of penetrating
vessels
NMO and Autoimmune disease
• NMO has occasionally been associated with other autoimmune diseases, including hypothyroidism, Sjogren’s syndrome (SS), systemic lupus erythematosus (SLE), pernicious anemia, ulcerative colitis, primary sclerosing cholangitis, rheumatoid arthritis, mixed connective tissue disorders, and idiopathic thrombocytopenic purpura
Treatment
Acute attacks:
• Intravenous corticosteroid therapy is commonly the mainstay of treatment.
• Patients who do not respond promptly benefited from plasmapheresis .
• Early initiation of plasmapheresis is recommended, particularly for patients with severe cervical myelitis, acute severe vision loss refractory to steroids.
To prevent Relapse:
• Maintenance immunosuppressive therapy for reducing relapses of neuromyelitis optica.
• Azathioprine (typically 2.5–3.0 mg/kg/day) in combination with oral prednisone (~1.0 mg/kg/day) reduces the frequency of attacks.
• Mycophenolate mofetil,Mitoxantrone, Rituximab and
methotrexate can induce clinical remission.
FURTHER COURSE IN HOSPITAL
• Methyl dopa added for hypertension
• In view of very young age & persistent hypertension, plasmapheresis was deferred
• Child was given ivig3.2g od x 5days
• 2nd course of Methyl prednisolone given for 5days
• trihexyphenydyl was started for dystonia
• with control of hypertension, irritability & incessant cry decreased, dystonic posturing improved
Repeat MRI Brain
TO RULE OUT AUTO IMMUNEDISEASES ASSOCIATED WITH NMO
• S.Lactate, pyruvate, ammonia- Normal
• ANA, p ANCA, c ANCA - Negative
• Antiphospholipid, anticardiolipin Ab- negative
• Thyroid profile - normal
• VEP- child not co operative
• At the time of discharge, child is conscious, oriented
• Vision normal, Cranial nerves- Normal
• Head control regained
• Power in right UL and LL 2/5, left LL 3/5
• On oral prednisolone, antihypertensives, physiotherapy.
• Plan - immuno suppressive therapy
Conclusion
• Any child presenting with transverse myelitis or optic
neuritis must be evaluated for NMO
• Seronegative NMO - kept under close surveillance
• Seropositive NMO – immunosuppressants to prevent future relapses
THANK YOU