NEET PG clinical case walkthrough: an infant presents with clusters of flexion spasms on awakening and developmental regression. Step-by-step diagnosis and management of West syndrome with MCQs.
Version 1.0 — Published April 2026
A 6-month-old male infant is brought to the pediatric OPD by his mother with complaints of "strange jerking episodes" for the past 6 weeks. She describes clusters of sudden flexion movements — the infant's head drops forward, arms flex and extend outward, and the trunk flexes — occurring 10-20 times in rapid succession, primarily upon awakening from sleep. Each episode lasts 1-3 seconds, and a single cluster may continue for 5-10 minutes. The mother says the episodes resemble "salaam attacks" (a term she found online). She also reports that the infant, who was previously babbling and reaching for objects, has stopped these milestones over the past 2 months.
The infant was born at full term via normal vaginal delivery with a birth weight of 3.1 kg. There were no perinatal complications. Immunizations are up to date. There is no family history of epilepsy. The infant was developing normally until approximately 4 months of age.
West syndrome is a catastrophic epileptic encephalopathy of infancy, first described by Dr. William James West in 1841 when he observed the condition in his own son. It affects 2-5 per 10,000 live births (Nelson's Textbook of Pediatrics, 22nd Edition) with a slight male predominance. The typical onset age is 3-12 months, with peak incidence at 4-7 months — precisely matching this infant's presentation.
General examination:
Neurological examination:
Skin examination:
Infantile spasms with developmental regression is the clinical anchor, but the differential for episodic movements in a 6-month-old includes:
This content is for educational purposes for NEET PG exam preparation. It is not a substitute for professional medical advice, diagnosis, or treatment. Clinical information has been reviewed by qualified medical professionals.
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| Diagnosis | Points in favor | Points against |
|---|---|---|
| West syndrome (infantile spasms) | Clusters of flexion spasms on awakening, developmental regression, age 6 months, ash-leaf spots suggesting TSC | None — all findings consistent |
| Myoclonic epilepsy of infancy (benign) | Episodic jerking movements in an infant | Benign myoclonus does not cause developmental regression, jerks are isolated (not clustered), normal EEG |
| Epileptic spasms (non-West) | Similar spasm morphology | West syndrome requires the full triad; epileptic spasms without hypsarrhythmia or regression may be a different entity |
| Benign myoclonus of infancy | Episodic brief jerks in infancy | No developmental regression, normal EEG, self-resolving |
| Lennox-Gastaut syndrome | Multiple seizure types, developmental impairment | Onset typically 1-8 years (later than West), EEG shows slow spike-wave (<2.5 Hz), not hypsarrhythmia |
| Sandifer syndrome | Episodic dystonic posturing in infants | Related to GERD, no developmental regression, normal EEG |
The combination of clustered flexion spasms + developmental regression + age 4-12 months is virtually diagnostic of West syndrome, even before the EEG. The ash-leaf spots and shagreen patch strongly suggest tuberous sclerosis as the underlying etiology.
Electroencephalography (EEG) is the most important investigation for confirming West syndrome.
Findings in this infant:
MRI brain:
Additional investigations for TSC workup:
Routine investigations:
West syndrome secondary to tuberous sclerosis complex (TSC) — confirmed by the classic triad (infantile spasms + hypsarrhythmia + developmental regression) plus TSC diagnostic criteria (cortical tubers on MRI + ash-leaf spots + shagreen patch).
West syndrome diagnostic triad:
| Component | Finding in this patient |
|---|---|
| Infantile spasms | Flexion spasms in clusters on awakening, 10-20 per cluster |
| Hypsarrhythmia on EEG | Chaotic high-amplitude slow waves + multifocal spikes |
| Developmental regression | Loss of babbling, reaching, head control over 2 months |
TSC diagnostic criteria (Roach et al., ILAE): Two or more major features confirm the diagnosis. This patient has: cortical tubers (major), ash-leaf spots >3 (major), shagreen patch (major), subependymal nodules (major) — definite TSC.
Management of West syndrome follows two parallel tracks: treating the infantile spasms and managing the underlying cause. The treatment choice depends critically on whether TSC is present.
Vigabatrin is the first-line drug for infantile spasms due to tuberous sclerosis — this is one of the most frequently tested facts in pediatric neurology for NEET PG.
ACTH (adrenocorticotropic hormone) is the first-line treatment for infantile spasms NOT due to tuberous sclerosis.
| Parameter | TSC-associated spasms | Non-TSC spasms |
|---|---|---|
| First-line drug | Vigabatrin | ACTH |
| Response rate | 90-95% | 70-80% |
| Key ADR to watch | Visual field defects | Hypertension, infections |
| Second-line if first fails | ACTH | Vigabatrin, valproate |
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West syndrome is tested in NEET PG through three dominant patterns:
Pattern 1 — The triad identification: A vignette describing an infant (3-12 months) with clustered spasms + EEG findings + developmental regression. You identify West syndrome. The trap: calling it "myoclonic epilepsy" because the stem mentions "jerking." Remember — myoclonic jerks are brief and isolated; infantile spasms are sustained and clustered.
Pattern 2 — The treatment question: "What is the first-line treatment for infantile spasms?" The answer depends on whether the stem mentions tuberous sclerosis. If TSC is mentioned (ash-leaf spots, cortical tubers, cardiac rhabdomyoma), the answer is vigabatrin. If TSC is not mentioned or the cause is cryptogenic, the answer is ACTH. This is a direct, high-yield question.
Pattern 3 — The EEG pattern: "Which EEG pattern is associated with West syndrome?" The answer is hypsarrhythmia. Related EEG associations tested: Lennox-Gastaut = slow spike-wave (<2.5 Hz); absence epilepsy = 3 Hz spike-wave; juvenile myoclonic epilepsy = 4-6 Hz polyspike-wave.
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Start Free Practice →The classic triad of West syndrome is infantile spasms (flexor, extensor, or mixed), hypsarrhythmia on EEG (chaotic high-amplitude slow waves with multifocal spikes), and developmental regression or arrest. All three components must be present for the diagnosis. This triad typically presents between 3 and 12 months of age, with peak onset at 4-7 months. NEET PG tests this triad directly — if all three are mentioned in the stem, the answer is West syndrome.
Hypsarrhythmia is the characteristic EEG pattern of West syndrome — a chaotic, disorganized background with high-amplitude (greater than 200 microvolts) slow waves and multifocal independent spikes and sharp waves with no recognizable pattern or interhemispheric synchrony. It is one of the most recognizable EEG patterns in pediatric neurology. During a spasm, the EEG may show a brief electrodecremental response (sudden flattening). Hypsarrhythmia is pathognomonic for West syndrome in the right clinical context.
ACTH (adrenocorticotropic hormone) is the first-line treatment for infantile spasms NOT caused by tuberous sclerosis. The standard protocol is high-dose ACTH (150 IU/m2/day) for 2-3 weeks followed by a taper. For infantile spasms DUE to tuberous sclerosis, vigabatrin is the first-line drug. This distinction — ACTH for non-TS, vigabatrin for TS — is a direct NEET PG question point.
Infantile spasms are sustained contractions lasting 1-5 seconds occurring in clusters (5-150 spasms per cluster), typically on awakening. Myoclonic seizures are brief shock-like jerks lasting under 100 milliseconds, usually not clustered. The EEG also differs: infantile spasms show hypsarrhythmia between episodes, while myoclonic epilepsy shows generalized polyspike-wave discharges. The clinical distinction matters because treatment and prognosis differ significantly.
West syndrome has a guarded prognosis. Even with optimal treatment, 70-90% of children develop intellectual disability. About 50-60% develop other seizure types, including Lennox-Gastaut syndrome. Outcomes are better in cryptogenic (unknown cause) cases compared to symptomatic cases (identifiable brain pathology). Early treatment initiation — within 1 month of spasm onset — improves developmental outcomes. Tuberous sclerosis cases treated with vigabatrin have the best seizure control rates at 90-95%.
West syndrome has three etiological categories: symptomatic (70-80%) with identifiable brain pathology such as tuberous sclerosis, perinatal hypoxic-ischemic encephalopathy, cortical dysplasia, Down syndrome, or CNS infections; cryptogenic (10-15%) with suspected but unidentifiable cause; and idiopathic (5-10%) with no identifiable cause and normal prior development. Tuberous sclerosis is the single most commonly identified cause and appears frequently in NEET PG stems.
This content is for educational purposes for NEET PG exam preparation. It is not a substitute for professional medical advice, diagnosis, or treatment. Clinical information has been reviewed by qualified medical professionals.
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Written by: NEETPGAI Editorial Team Reviewed by: Pending SME Review Last reviewed: April 2026
This article is reviewed by qualified medical professionals for clinical accuracy and exam relevance. For corrections or updates, contact the editorial team.