Infantile spasms is a seizure disorder that happens during infancy and early childhood, with most of the symptoms being observable during the first year of childhood itself. Some of the symptoms are myocolonic seizures, hypsarrhythimia, abnormal chaotic electroencephalogram and mental retardation.

The spasms are brief contractions of one or more muscles groups which are followed by a longer phase of interval. Usually, the spasms occur as a collection, with a spontaneous build up to a peak. The spasms have been observed to occur mostly after the child becomes awake (from sleep).  Infantile spasms are also called as West Syndrome, named after the scientist, Dr.W.J.West who was the first to record such symptoms in his son.

Infantile spasms are indicative of abnormal interactions of nerve cells in the cortex and brainstem regions. Any disorder that can produce brain damage is associated to infantile spasms. Infantile spasms could be classified based on the suspected etiology of it being symptomatic, cryptogenic, or idiopathic.

Symptomatic

Pre-natal disorders includes tuberous sclerosis, trisomy 2, congenital infections, trauma etc

Perinatal disorders includes intercranial haemorrhages, meningitis, encephalitis, trauma etc

Post –natal disorders include maple syrup urine disease, phenylketoneuria, degenerative diseases, non-ketotic hyperglycinemia,

Cyptogenic

Patients are diafnosed to have cryptogenic infantile spasms if not cause could be pinpointed and the epilepsy is symptomatic in nature.

Idiopathic

The percentage of idiopathic infantile spasms is reportedly around 9-14%. The occurrence of normal psychomotor development before the onset of symptoms, with the absence of any neurological abnormalities is indicative of idiopathic infantile spasms.

The diagnosis of infantile spasms is done by a physical examination that would help to pinpoint the observable symptoms into the different etiologies. A physical examination on a person with infantile spasms gives normal results with the absence of any pathognomonic physical findings. If at all any abnormalities are noted, they are of the type of adenoma, sebaceum, ash leaf macules etc. besides a physical abnormality, the affected individual may show a moderate to severe growth delay. This is not directly related to infantile spasms but as a result of the brain injury due to a epilepsy syndrome.

Following a physical examination, a neurological examination is done which shows irregularities in mental status function, delays in development, irregularities in the level of consciousness, cranial nerve function.

Before therapy is started for treating infantile spasms, the other confirmative and qualitative tests that would help to suggest a particular therapy based on the region of area affected in the brain is concluded. The tests could be studied as Imaging studies and other supportive studies

Imaging studies

CT (computed tomography) scan and MRI (magnetic resonance imaging) scan are useful in detection of structural brain anomalies, disorders of neuronal migration, agenesis of the corpus collosum of the brain etc.

Other studies

An EEG (electric encephalogram) helps to decide on a particular course of treatment, based on the findings. An ophthalmic examination helps to determine congenital infections or retinal tubers associated with infantile spasms. A careful examination of the skin is then performed for the presence of hypopigmented lesions.

Treatment

There are two lines of treatment for infantile spasms. Some of the drugs used in the treatment are hormonal agents, anticonvulsants, Benzodiazephines and vitamins.

Some of the pitfalls that would be considered for infantile spasms,  are possibilities of not fully recognising the symptoms of infantile spasms and therefore not providing appropriate treatment, and the failure to recognise symptoms of West syndrome, which would increase the occurrence of seizure which thereby increases the possibilities of injury and death.