West syndrome, also known as infantile spasms, is a severe epilepsy syndrome in infants characterized by infantile spasms, a specific EEG pattern called hypsarrhythmia, and developmental problems. It was first described in 1841 and is caused by various conditions that damage the brain such as tuberous sclerosis, infections, or unknown causes. Treatment involves corticosteroids, vigabatrin, pyridoxine, and anti-seizure medications with the goal of stopping spasms and normalizing the EEG to improve developmental outcomes, though prognosis varies depending on the underlying cause.

1. WEST SYNDROME
Dr.Dhritiman Choudhury
Tripura medical college

2. introduction
• West syndrome is a severe epilepsy syndrome
composed of the triad of infantile spasms, an
interictal electroencephalogram (EEG) pattern
termed hypsarrhythmia, and mental
retardation, although the diagnosis can be
made even if 1 of the 3 elements is missing
(according to international classification)

3. • The syndrome's namesake, Dr W J West, gave the
first detailed description of infantile
spasms, which occurred in his own child.In a
letter to the editor of The Lancet in 1841, West
described the events as "bobbings" that "cause a
complete heaving of the head forward towards
his knees, and then immediately relaxing into the
upright position.These bowings and relaxings
would be repeated alternately at intervals of a
few seconds, and repeated from 10 to 20 or more
times at each attack, which would not continue
more than 2 or 3 minutes; he sometimes has 2, 3
or more attacks in the day."

4. Classification based on etiology:
• Symptomatic:Patients are diagnosed with
symptomatic infantile spasms if an identifiable
factor is responsible for the syndrome.
Virtually any disorder that can produce brain
damage can be associated with infantile
spasms.
– Hydrocephalus
– Microcephaly
– Sturge weber syndrome

5. – Tuberous sclerosis
– HIE
– Congenital infections
– Meningitis
– Encephalitis
– Pyridoxine deficiency
– Maple syrup urine disease
– Phenylketonuria
– Biotinidase deficiency
– Trauma

6. • Cryptogenic:Patients have cryptogenic
infantile spasms if no cause is identified but a
cause is suspected and the epilepsy is
presumed to be symptomatic.
• Idiopathic:Patients may be considered to have
idiopathic infantile spasms if normal
psychomotor development occurs prior to the
onset of symptoms, no underlying disorders or
presumptive causes are present, and no
neurologic or neuroradiologic abnormalities
exist. Some investigators use the terms
idiopathic and cryptogenic interchangeably.

7. A case study:
• A 5 month old baby presented with
generalized convulsion since 20 days.
• Frequency: 4-5/day each lasting for 2-4 min.
• h/o cough-10days
• No H/O LOC ,vomiting, fever, trauma.
• No autonomic involvement
• Perinatal history-uneventful.
• Immunization up to date.
• No similar history in the family.
• No history of drug intake.

8. On examination:
• Conscious,feeding well.
• No bulging of fontanel.
• No evidence of meningeal irritation.
• No pallor, cyanosis, icterus,
lymphadenopathy,hepatosplenomegaly or
abdominal mass.
• No evidence of any dermatologic lesion.
• Developmental milestones normal.

9. Ictal manifestations:
• Spasms begin with a sudden, rapid, tonic
contraction of trunk and limb musculature
that gradually relaxes over 0.5-2 seconds.
Spasms last for 3-4 sec. The intensity of
spasms may vary from a subtle head nodding
to a powerful contraction of the body.
• The spasms are of mixed variety consisting of
flexion of the neck and trunk with extension
and abduction of limbs. They are associated
with a cry. The patient then relaxes, and the
jerk repeats. These attacks occur in clusters
throughout the day and last for 2-4 min.

10. • These manifestations are also known as
salaam or jackknife attacks: a flexor spasm
with rapid bending of the head and torso
forward and simultaneous raising and bending
of the arms while partially drawing the hands
together in front of the chest. If one imagined
this act in slow motion, it would appear
similar to the ceremonial greeting (Salaam).

11. Investigations:
• Hb 11.0 gm%
• TLC 9,400/cumm
• DLC 52/45/01/02/00
• ESR 18mm/1st hr
• Sr. Ca 8.9 mg/dl
• NCCT brain- within normal limit.
• ECG- within normal limit.
• EEG- hypsarrhythmia.

12. hypsarrhythmia
• Hypsarrhythmia (seen in the image below) is
the characteristic interictal EEG pattern. It
consists of chaotic, high- to extremely high–
voltage, polymorphic delta and theta rhythms
with superimposed multifocal spikes and wave
discharges.

13. Treatment:
• Compared with other forms of epilepsy, West
syndrome is difficult to treat. To raise the
chance of successful treatment and keep
down the risk of longer-lasting effects, it is
very important that the condition is diagnosed
as early as possible and that treatment begins
straight away. However, there is no guarantee
that therapy will work even in this case.

14. Treatment options
Commonly used first-line treatments for infants with
West syndrome include the following:
ACTH
Vigabatrin
Prednisone
Pyridoxine (vitamin B-6)
Second-line treatments include the following:
Benzodiazepines
Valproic acid
Lamotrigine
Topiramate
Zonisamide
Levetiracetam

15. Prednisone
• A 2004 American Academy of Neurology and Child
Neurology Society practice parameter concluded that
"there is insufficient evidence that oral corticosteroids
are effective in the treatment of infantile spasms”
• One study found that after approximately 2 weeks,
hormonal therapy provided better relief from spasm
than did vigabatrin. The 2004 multicenter, randomized,
controlled trial compared hormonal therapy (either
oral prednisolone or IM tetracosactide depot) with
vigabatrin in 107 infants with infantile spasms. More
infants assigned hormonal treatments (73%) had no
spasms on days 13 and 14 than did infants assigned
vigabatrin (54%).

16. Pyridoxine
• Two distinct treatment situations exist in which
pyridoxine is used in patients with West syndrome.
• First is intravenous (IV) administration during
diagnostic EEG to assess whether the patient's seizures
and EEG abnormalities are related to pyridoxine
deficiency. In this approach, administer 50-100 mg IV
during a diagnostic EEG; if dramatic improvement is
noted in the EEG, the patient is believed to have
pyridoxine-dependent seizures.
• Second is long-term oral administration. The
effectiveness of long-term, oral, high-dose pyridoxine
in West syndrome has been investigated in multiple
open-label studies, with promising results. Most
patients who respond to long-term, oral, high-dose
pyridoxine do so within 1-2 weeks of initiation.

17. Valproic acid
• Valproic acid is considered an effective
second-line AED therapy against spasms
associated with West syndrome.
• Dose-10-15 mg/kg/day PO/IV divided q6-8h
• Monitor: LFTs

18. ACTH
• A 2004 American Academy of Neurology and
Child Neurology Society practice parameter
concluded that "ACTH is probably effective for
the short-term treatment of infantile spasms
and in resolution of hypsarrhythmia” and
"here is insufficient evidence to recommend
the optimum dosage and duration of
treatment with ACTH for the treatment of
infantile spasms."

19. • Corticotropin is associated with serious,
potentially life-threatening adverse effects. It
must be administered intramuscularly, and such
injections are painful for the infant to receive and
are unpleasant for the parent to perform.
• A prospective, single-blind study demonstrated
no difference in effectiveness between high-dose,
long-duration corticotropin (150 U/m2/day for 3
wk, tapering over 9 wk) and low-dose, short-
duration corticotropin (20-30 U/day for 2-6 wk,
tapering over 1 wk with respect to spasm
cessation and improvement in the patient's EEG.
Hypertension was more common with larger
doses

20. Vigabatrin
• Vigabatrin is indicated as monotherapy for
children aged 1 month to 2 year with infantile
spasms. Its precise mechanism of action is
unknown. The drug is a selective, irreversible
inhibitor of gamma-aminobutyric acid
transaminase (GABA-T). GABA-T metabolizes
GABA, an inhibitory neurotransmitter, thereby
increasing CNS GABA levels. Vigabatrin use must
be weighed against the risk of permanent vision
loss.Vigabatrin was approved by the US Food and
Drug Administration (FDA) in August 2009. It is
available only from a restricted access program.

21. Topiramate
• Topiramate is a sulfamate-substituted
monosaccharide with a broad spectrum of
antiepileptic activity that may have state-
dependent sodium channel blocking action, may
potentiate the inhibitory activity of the
neurotransmitter GABA, and may block glutamate
activity.
• A 2004 American Academy of Neurology and
Child Neurology Society practice parameter
concluded that "there is insufficient evidence to
recommend topiramate for the treatment of
infantile spasms."

22. Levetiracetam
• Levetiracetam's mechanism of action is the
inhibition of N-type calcium channels, the
modulation of GABA and glycine receptors,
and binding to SVA2 protein.
• An open-label trial of 5 infants with new-
onset, cryptogenic infantile spasms showed
levetiracetam to be clinically effective. Two
children became seizure free, while 2 others
showed a minimum of 50% reduction in
seizures. The dose ranged from 30-60
mg/kg/day.

23. clonazepam
• Clonazepam is considered a second-line AED
therapy against spasms associated with West
syndrome. However, adverse effects and the
development of tolerance limit the drug's
usefulness over time. Nitrazepam and
clobazam are not approved by the FDA but are
available in many countries worldwide.

24. Treatment given
• Methyl prednisone 1mg/kg/day
• Pyridoxine hydrochloride 10mg/day
• Sodium valproate 10-15mg/kg/day
There was only a single episode of seizure after
the commencement of the steroid therapy.

25. Prognosis
• It is not possible to make a generalised
prognosis for development due to the
variability of causes, the differing types of
symptoms and etiology. Each case must be
considered individually.
• The prognosis for children with idiopathic
West syndrome are mostly more positive than
for those with the cryptogenic or symptomatic
forms.

26. • A large proportion (up to 90%) of children suffer
severe physical and cognitive impairments, even
when treatment for the attacks is successful. This is
not usually because of the epileptic fits, but rather
because of the causes behind them (cerebral
anomalies or their location or degree of severity).
• Permanent damage often associated with West
syndrome in the literature include cognitive
disabilities, learning difficulties and behavioural
problems, cerebral palsy (up to 5 out of 10 children),
psychological disorders and often autism (in around 3
out of 10 children). Once more, the etiology of each
individual case of West syndrome must be
considered when debating cause and effect.

27. • Statistically, 5 out of every 100 children with
West syndrome do not survive beyond five years
of age, in some cases due to the cause of the
syndrome, in others for reasons related to their
medication. Only less than half of all children can
become entirely free from attacks with the help
of medication. Statistics show that treatment
produces a satisfactory result in around three out
of ten cases, with only one in every 25 children's
cognitive and motoric development developing
more or less normally.
• Sometimes West syndrome turns into a focal or
other generalised epilepsy. Around half of all
children develop Lennox-Gastaut syndrome.

28. Thank you