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A disorder characterized by the triad of infantile
spasms, an interictal EEG pattern termed hypsarrhythmia, and mental
retardation.
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Generalized Flexion Epilepsy; Infantile Epileptic
Encephalopathy; Infantile Myoclonic Encephalopathy; Jackknife Convulsion;
Massive Myoclonia; Salaam Spasms; Infantile Spasms
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Approximately 1.5-5.0 in 10,000
live births are afflicted with this disease that affects both genders
equally. There is no genetic basis for the disease, although a positive
family history for epilepsy is present in a minority of these patients.
However, in a significant number of cases, Tuberous Sclerosis can be
found and should therefore be ruled out. Basically any type of brain damage
has the potential to result in infantile spasms.
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Infantile spasms begin in the first year of life,
most often around 4 to 7 months of age. Close neurologic examination of the
child reveals abnormal mental function with cognitive deficits that are
consistent with developmental delay or regression. However, there are no
pathognomonic signs for West Syndrome. The symptoms are more likely a
reflection of the underlying brain damage. The initial focal signs of brain
injury may secondarily involve other sites of the brain resulting in
the electroencephalographic picture of hypsarrhythmia. Hypsarrhythmia is
characterized by abnormal, random, high voltage slow waves and spikes in
cortical areas, which are variable in regard to their duration and
location. The electroencephalogram has a chaotic look and is most often
non-episodic. Following a spasm, fast waves and high voltage spikes may be
detected. Even though the exact mechanism of action is unknown, therapy with
ACTH has long been known to be one of the most effective treatment options
and a wide dosage range has been used. It seems that early treatment
(usually within a month after onset of infantile spams) improves the
therapeutic success rate. Some neurologists combine ACTH with high doses of
vitamin B6, others prefer to use nitrazepam, clonazepam, valproate,
vigabatrin or lamotrigine.
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Depending on their etiology, infantile spasms are usually classified as
symptomatic, cryptogenic, or idiopathic. Symptomatic infantile spams are present if a
factor responsible for the syndrome can be identified. Theoretically, any
form of brain injury (congenital or acquired) can be associated with
infantile spasms. Infantile spasms are termed cryptogenic, if no cause could be
identified, although the seizures are considered to be symptomatic in
origin. If psychomotor development was normal prior to the onset of the
spasms, but no abnormalities can be found to explain the findings, the term
idiopathic infantile spasms has been used, although for some neurologist the two terms
“cryptogenic” and “idiopathic” are interchangeable. The proportions of
cryptogenic and idiopathic infantile spasms therefore varies widely and with
diagnostic tools becoming more and more sophisticated, their overall
frequency is declining.
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The treatment with ACTH may result in
serious side effects including electrolyte imbalance, hypertension,
left-ventricular hypertrophy, obesity, osteoporosis, opportunistic
infections and behavioral problems. Preoperative work-up should therefore
include a complete cell blood count (CBC) and ...