Epileptic spasms - 175 years on: Trying to teach an old dog new tricks.

PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review. RESULTS: Infantile spasms, first described by Dr West in 1841, has undergone extensive investigation to understand the pathogenesis, aetiologies, optimal intervention and most likely prognosis for the affected child. The terminology has recently evolved such that the preferred term for the condition is now "epileptic spasms" in recognition of the fact that cases can present outside infancy. The aetiologies are diverse and can be structural, genetic, metabolic or acquired. Increasing numbers of presumed causative genetic mutations are now being identified. The condition is an epileptic encephalopathy such that without adequate control of the clinical seizures and correction of the abnormal EEG, ongoing neurological damage occurs. In some cases neuroregression is inevitable despite intervention. First-line treatments are either hormonal therapies, adrenocortcotrophic hormone or prednisolone, or vigabatrin. In the sub-group of patients with tuberous sclerosis complex, vigabatrin is the preferred treatment. High dose prednisolone may be a more viable option in resource limited settings. Recent research has suggested that combining hormonal therapies with vigabatrin will result in more patients achieving spasm cessation. CONCLUSIONS: Despite extensive study, the pathogenic mechanisms remain an area of debate and in need of further exploration. The enigma, however, may be explained as the role of resting state and dysfunctional brain networks are elucidated further.

The history of the concept of epileptic encephalopathy.

The first description of epileptic encephalopathies dates back to Dr. West who, in 1857, described the syndrome that took his name. In addition to West syndrome, in the last century other epileptic syndromes entered into the chapter of epileptic encephalopathies. Henry Gastaut has the virtue of having created the modern concept of epileptic encephalopathy and entering it into the official terminology of the International League Against Epilepsy (ILAE). After the first proposal, it was further defined and refined over time.

William James West (1794-1848): abdominal surgeon and distraught father.

William West was an early-nineteenth-century successful small-town surgeon-apothecary who took a major role in the local movement for medical reform. He published the first series of ovariotomies in England in 1837. His son suffered from a type of infantile spasm which West described in the Lancet in 1841, and which is now known as West's syndrome.

West & West syndrome--a historical sketch about the eponymous doctor, his work and his family.

The British surgeon William James West has not left a tremendous literary or scientific work as many of his contemporaries did. For this reason only a little has been known about him and the fate of his family for decades, even though the eponym was created in the 1960s. Only in 1990 was a first biography published and later on supplemented. If his son had not suffered from the syndrome, which later on was named after him, he would not have published the first description of the West syndrome in The Lancet in 1841. Possibly we would be talking about Newnham's syndrome, because 8 years later he published a detailed report on this subject. There is, however, a second aspect concerning the pioneering activity of West, i.e. his advocating of ovariotomy in its early days. To judge the importance of this feat correctly, it is necessary to keep in mind that his former pupil and practice-partner Gorham in 1874 obviously tried to exaggerate the role of West in ovariotomy. Nevertheless, it is worth keeping the memory of William James West and his son James Edwin alive, as happened at the International Symposium on West Syndrome and Other Infantile Epileptic Encephalopathies at Tokyo, 9-11 February in 2001, and by other occasions.

The mystery of the Doctor's son, or the riddle of West syndrome.

Although the eponym "West syndrome" is used widely for infantile spasms, the originators of the term and the time frame of its initial use are not well known. This article provides historical details about Dr. West, about his son who had infantile spasms, and about the circumstances leading to the coining of the term West syndrome.

Infantile spasms: West syndrome.

West syndrome is an epileptic syndrome with a devastating clinical course. In recent years, anatomic and functional neuroimaging studies have helped to diagnose the cause of the spasms in most children, but with little progress in improving the poor developmental outcome associated with this syndrome. This article cites 4 seminal observations regarding the clinical presentation, diagnosis, and treatment of infantile spasms.

Discovering trepanation: the contribution of Paul Broca.

PAUL BROCA WAS an icon of neuroscience and neurosurgery who also happened to be intrigued by trepanned skulls. His anthropological work established that, thousands of years ago, individuals not only trepanned skulls but also successfully performed these operations on living persons. After first commenting on a pre-Columbian Peruvian skull in 1867 (the first case of trepanning on a living person widely recognized as such), he turned to even older trepanned skulls found on French soil. In the 1870s, he theorized that the procedure originated as a means to treat convulsions in infants. As he saw it, Neolithic man attributed such convulsions to evil spirits, for which trepanation provided a ready means of escape. Because simple infantile convulsions resolve on their own, the practice would have seemed successful, and therefore it would have been propagated and expanded by later generations. Broca's theory skillfully integrated his anthropological and medical knowledge and helped to create the exciting environment in which scientists pondered what Neolithic and primitive people really knew regarding the brain and surgery.