1. Sunrise to “WEST”
“Sunrise to WEST”
Jeewana Leelaratne
Senior Registrar in Paediatric Neurology
“SUNRISE TO WEST”

2. Outline
1. Case scenarios
2. Clinical features
3. Etiology
4. Diagnosis
5. Treatment
6. Prognosis and Prevention

3. Case 01
• 4 month old baby boy
• Presented with sudden flexion of upper and lower
limbs, just few seconds
• Complicated birth History
• Development delay

4. • EEG - Hypsarrhythmia
• Treatment -High dose steroids
• Spasms resolved and EEG cleared partially in
2 week, completely at 4 weeks.
• On intense habilitation program

5. Case 02
• 8 month old baby girl
• Subtle head drops in clusters lasting about 10
minutes
• 3 -5 cluster/day; on awakening or falling
asleep
• Development was mildly delayed but
regression also noted with the onset of head
drops

6. • On clinical examination he had hypomelanotic
macules, shagreen patches
• MRI brain showed cortical tubers in left
frontal lobe and right parietal lobe
• 2D ECO showed Rhabdomyoma

8. • EEG shows typical hypsarrhythmia
• Clinical and Investigation findings confirms
Tuberous Sclerosis
• At 8 month of age started Vigabatrin with
reasonable spasm control at 2 weeks of
treatment and further continued for 6 months
with very good spasm control.

9. West syndrome
• 2017 ILAE classification categorize epileptic
spasms under category of developmental and
epileptic encephalopathy
• Epileptic spasms are mostly seen in West
Syndrome.
• Epileptic spasms/ Infantile spasms/ West
Syndrome are synonymously used
• It is rare, affecting 3 to 5 per 10,000 live births

10. West syndrome
• Severe childhood epileptic encephalopathy
syndrome
• Infantile spasms/ Epileptic spasms
• Electroencephalograph shows Hypsarrhythmia
• Development arrest or retardation
• WS comprises 2% of childhood epilepsies and
13%‐45% of infantile‐onset epilepsies

11. History
• Dr William James
West, surgeon in
England, gave the first
detailed description of
infantile spasms, which
occurred in his own
child, James Edwin
West,
• In a letter to the editor
of The Lancet in 1841,
West described the
events as "bobbings"

12. • This detailed clinical description was followed
approximately 100 years later by the report of
the typical interictal EEG pattern termed
“hypsarrhythmia”
• The eponym West syndrome was created in the
early 1960s by Drs. Gastaut, Poirier, and
Pampiglione.

13. Epileptic Spasms
• Manifest as involuntary contractions of the
head, neck, and trunk and/or uncontrolled
flexion or extension of the legs and/or arms.
• The duration, intensity, and muscle groups
affected by seizures vary from infant to infant.
• These spasms may occur upon drowsiness,
awakening or after feeding but all along the
day these can be there.

15. Etiological classification
• Etiology is classified according to the ILAE
2017 epilepsy classification

16. Unknown
Immune
Infectious
Structural
Etiology
Metabolic
Genetic
Co-morbidities
Epilepsy Syndromes
Scheffer et al 2017

17. Differential Diagnosis
• Non Epileptic
• Epileptic

18. Non-epileptic
• Benign Sleep Myoclonus
• Benign Myoclonus of Infancy
• GORD
• Infantile Colic
• Benign Infantile Head Drops
• Exaggerated startles caused by Colic or to
other external stimuli

19. Epileptic
• Early infantile developmental and epileptic
encephalopathy :
– < 3 months of age.
– Spasms may be present,
– Other seizure types may tonic, myoclonic and sequential
seizures typically co-exist.
• Myoclonic Epilepsy of Infancy :
– Presents with myoclonic seizures, not epileptic spasms.
– The EEG and EMG can distinguish myoclonus from
epileptic spasms.
– There should be a normal background with generalized
spike wave discharges.

20. Interictal EEG
• Hypsarrhythmia
– High amplitude
– Excessive slowing
– Multifocal epileptiform discharges
• NREM sleep record needed

23. The ictal EEG
• The ictal recording of a spasm is characterized
by
– A high amplitude,
– Generalized sharp slow waves
– Followed by low amplitude, fast activity which
may appear as a brief electrodecrement.
– Hypsarrhythmia typically attenuates or stops
during a series of epileptic spasms.
– EMG helps to distinguish epileptic spasms from
myoclonic seizures and tonic seizures.

24. Treatment
• Infantile spasms are difficult to treat.
• Conventional ASMs are not effective
• Hormonal therapies used since 1958
• Vigabatrin approved in the 1990s as an
effective treatment for infantile spasms,
especially in tuberous sclerosis

25. First-Line Treatments
• ACTH
• Prednisolone
• Vigabatrin
• Pyridoxine (vitamin B-6)
• Well studied drugs of first choice for the
spasms

26. West syndrome
Unknown etiology
/structural
Prednisolone
/ACTH
Tuberous sclerosis
Vigabatrin

28. • According to the United Kingdom Infantile
Spasms Study- UKISS an advantage of using
steroids (73%) over vigabatrin (56%) is clearly
shown.
• They described that short term spasm control is
better with steroid treatment than with vigabatrin.
• It further showed that better cognitive outcome
(assessed at 18 and 42 months) occurs in those
with cryptogenic IS if treated with steroids than
with vigabatrin.

30. Side Effects
Steroids Vigabatrin
• Irritability
• Increased appetite
• Weight gain
• Gastro- intestinal upset.
• Systemic hypertension
• Hyperglycemia
• Sleep disturbance
• Immunosuppression
• Allergic rash or
anaphylaxis
• Drowsiness
• Increased appetite
• Weight gain
• Visual field constriction
• Susceptibility to infection
• Gastro-intestinal upset
• Sleep disorder

31. Second-Line Treatments
• Benzodiazepines
• Valproic acid
• Lamotrigine
• Topiramate
• Zonisamide
• Levetiracetam

32. Other Treatment Modalities
• Epilepsy surgery
– Consider in atypical, asymmetrical spasms, or
other suggestion of focality in seizure semiology,
supported by lesional identification on
neuroimaging and localisation on EEG.
• Ketogenic Diet
– In Medical refractory cases

33. Prognosis

34. Long term outcome
• Rarely spasms may persist in adulthood
• 50-70% of patients evolve to other epilepsies
• 18-50% Lenox Gastaut Syndrome or focal
epilepseis
• Some genetic etiologies have better prognosis

35. Prognosis
• The long-term overall prognosis is poor
• Directly related to the etiology
• Normal or near normal development in only
15-25% .
• Seventeen percent had an IQ >85
• In 20-35 years of follow up, nearly all patients
with a normal or near normal outcome held
jobs .

36. Good Prognostic factors
• Children with unknown etiology
• Short time lag from onset to treatment
• Early and sustained response to treatment
• Normal development prior to onset of epileptic
spasms

37. Prevention
• Around 70 % of case of WEST syndrome is
related to acquired brain injuries
• Identify subtle spasms in children who has
birth insults.
• Other 10 % of case of unknown etiology,
prompt identification of clinical symptoms
diagnosis and treatment is the mainstay of
achieving better prognosis.

38. Prevention
• Parental education is utmost important during
antenatal clinic visits regarding these
catastrophic epilepsy type.
• Unknown etiology group make 10% of overall
disease burden but it has the best prognosis.
• Who gets the disease is unknown for this
group, no specialized risk factors found.
• Early identification and treatment is the only
hope to raise the sun to the WEST Syndrome.

39. Summary
• WEST syndrome is a developmental and
epileptic encephalopathy and neurological
emergency in infants.
• It has unique presentation irrespective of its
large number of etiologies.
• EEG is Pathognomonic and Diagnostic

40. Summary
• WEST syndrome is treated with steroids.
• Early identification and early treatment is the
only hope for a better outcome as each
additional day without treatment costs in final
cognitive achievement.
• Parental education on symptom identification
is utmost important.

41. References
• Andrew L Lux, et al The United Kingdom Infantile Spasms Study comparing
vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre,
randomised controlled trial
• Sameer M Zuberi1 et al ILAE Classification & Definition of Epilepsy Syndromes in
the Neonate and Infant: Position Statement by the ILAE Task Force on Nosology
and Definitions
• Surana et al Infantile Spasms: Etiology, lead time and treatment response in a
resource limited setting.
• Matti Sillanaa et al Long‐term mortality of patients with West syndrome
• Priyanka Madaan et al Management practices for West syndrome in South Asia: A
survey study and
• Riikonen R. et al Long-term outcome of patients with West syndrome. Brain Dev 2001;23:683-7
• Darke et al Developmental and epilepsy outcomes at age 4 years in the UKISS trial
comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre
randomised trial. Arch Dis Child 2010;95:382-6. 73.

42. Thank you