West syndrome

Description

West Syndrome (Infantile Spasms) – Triad of infantile spasms, developmental delay and hypsarrhythmia on EEG

Infantile Spasms are a rare epileptic syndrome presenting most commonly in infancy. They are diagnosed by recognising seizure patterns, assessing for delay in developmental milestones and a characteristic EEG termed hypsarrhythmia

The seizures can take several forms and have been described to include head bobbing, flexion/extension of limbs and trunk and respiratory pattern changes.

Infantile spasms are further subdivided into

• Symptomatic (associated with an underlying structural lesion such as tuberous sclerosis)
• Cryptogenic/Idiopathic

The underlying pathophysiology is not known. There is a poor prognosis and the condition is associated with progression to other seizure disorders.

Treatment options include hormonal therapy with ACTH/steroids, anti epileptic therapy (vigabatrin often used first line), and the ketogenic diet.

History

1840 – Dr. West had taken his son, James Edwin West (1840-1860), for a consultation with Sir Charles Clarke when he was 4 months old. The standard remedies of leeches; calomel; phlogiston; hot baths; and opium had failed to resolve his ‘attacks of emprosthotonus’. Clarke had already seen 4 such cases which he termed the ‘salaam convulsions of infancy‘ to describe the flexion and extension nature of the seizures.

1841 – William West describes the seizures affecting his son in a letter to the editor of the Lancet.

The child is now near a year old; was a remarkably fine, healthy child when born, and continued to thrive till he was four months old. It was at this time that I first observed slight bobbings of the head forward, which I then regarded as a trick, but were, in fact, the first indications of disease; for these bobbings increased in frequency, and at length became so frequent and powerful, as to cause a complete heaving of the head forward toward his knees… he neither possesses the intellectual vivacity or the power of moving his limbs, of a child of his age… he has no power of holding himself upright or using his limbs, and his head falls without support.

West WJ 1841

1849 – Dr William Newnham publishes a case series of 4 children affect by Infantile Spasms, including William West’s son (Case II – James Edwin West). The West Case description was based on diary entries provided by West’s wife, Mary which she had donated to Newnham six months following her husbands death. Newnham termed the condition Eclampsia Nutans.

1960 – Dr Gastaut first uses the term ‘syndrome de West’ as an eponym relating to the ‘historical aspects‘ of Infantile Myoclonic Encephalopathy with Hypsarrhythmia. Following several failed attempts to reclassify the condition in preceding years

C’est pourqoui, dans la suite de I’ouvrage et sans prejuger de I’avenir, nous parlerons d’Encephalopathie Myoclonique Infantile avec Hypsarythmie pour designer l’affection en cause et nous utiliserons su sigle: EMIH, except lorsque nous nous référerons à l’aspect historique du problème, où nous parlerons alors de syndrome de West – Gastaut: 9e Colloque de Marseille, 1960

Associated Persons

• William James West (1794–1848)
• William Newnham (1790-1865)
• Sir Charles Mansfield Clarke (1782-1857)

Alternative names

• ‘Salaam’ convulsions of infancy (Clarke 1840)
• Eclampsia Nutans (Newnham 1849)
• Syndrome des spasmes en flexion (Gastaut 1953)
• Syndrome de West (Gastaut 1960)
• Infant myoclonic encephalopathy with hypsarrhythmia (L’Encéphalopathie myoclonique infantile avec hypsarythmie)

References

• West WJ. On a peculiar form of infantile convulsions. Lancet. 1841;1:724–725. [Original article] [West Syndrome]
• Newnham W. History of four cases of eclampsia nutans, or the ‘salaam‘ convulsions of infancy, with suggestions as to its origin and future treatment. 1849: 9 (Case II – James Edwin West)
• Gastaut H et al. L’Encéphalopathie myoclonique infantile avec hypsarythmie: Syndrome de West, compte rendu de la réunion européenne d’information électroencéphalographique, 9e Colloque de Marseille, 1960.
• Gastaut H, Roger J, Soulayrol R, Salamon G, Regis H, Lob H. [Infantile myoclonic encephalopathy with hypsarrhythmia (West’s syndrome) and Bourneville’s tuberous sclerosis] J Neurol Sci. 1965 Mar-Apr;2(2):140-60. [PMID 5878600]
• Kellaway P, Hrachovy RA, Frost JD Jr, Zion T. Precise characterization and quantification of infantile spasms. Ann Neurol. 1979 Sep;6(3):214-8. [PMID 534418]
• Pellock JM et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010 Oct;51(10):2175-89. [PMID 20608959]
• Smith MS, Matthews R, Mukherji P. Infantile Spasms. StatPearls 2019