Saturday, January 19, 2013

DIAGNOSE

Gedurende Desember 2003 tot Februarie 2004 het Henru weer begin met die "rukkerige" epilepsie en op 9 Februarie 2004 was ons by Dr Lippert, Neurologiese Pediater. Hy het bevestig wat Dr Shah gesê het, naamlik dat Henru basies in 'n 24uur staat van epilepsie is en vir kort tydjies uit hierdie epilepsie toestand kom. Deur die dag was dit gemiddeld 25 aanvalle, maar dit was vir kort rukkies. Dit lyk kompleet of hy skrik en trek dan sy kop na regs en hy is vir 'n paar sekondes duidelik "afwesig" en sy oë flikker en dan "kom hy weer terug". In 99% van hierdie gevalle sal hy altyd glimlag as hy "terug kom", maar dit is so skaam glimlag. Die ander aanvalle het hy hoofsaaklik gekry as hy geslaap het en dan wakker geword het. Dit was gewoonlik tussen 3 en 5 aanvalle per dag. Dr Lippert het Henru gediagnoseer met "West Sindroom Epilepsie”wat ek gaan “Google het en die volgende feite gekry het:

West syndrome is caused by brain damage

West syndrome is a form of seizuredisorder (epilepsy) that begins in infancy. A specific type of seizure called infantile spasm is part of this syndrome, as are abnormal brain wave patterns called hypsarrhythmia*, and mental retardation. Almost any condition that can cause brain damage can cause West syndrome. The two most common causes are tuberous sclerosis and lack of oxygen during birth. Sometimes a cause is suspected but can’t be confirmed; in this case it is called“cryptogenic West syndrome.”

(*Hypsarrhythmia is an abnormal interictalpattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram (EEG), and frequently encountered in an infant diagnosed with infantile spasms, although it can be found in other conditions. In simpler terms, it is very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal EEG shows clear separation between each signal and visible pattern.

Gibbs and Gibbs described hypsarrhythmia in 1952 as "...random high voltage waves and spikes. These spikes vary from moment to moment, both in time and in location. At time they appear to be focal, and a few seconds later they seem to originate from multiple foci. Occasionally the spike discharge becomes generalized, but it never appears as a rhythmically repetitive and highly organized pattern that could be confused with a discharge of the petit malor petit mal variant type".)

In most cases of infantile spasms, hypsarrhythmia either disappears or improves during a cluster of spasms and/or REM sleep. Hypsarrhythmia rarely persists beyond the age of 24 months.

West syndrome accounts for 2% of epilepsies in childhood, but 25% of epilepsy that begins in the first year of life. The rate of infantile spasm is estimated between 2.5 to 6.0 per 10,000 live births.

Symptoms

West syndrome most commonly begins between ages 3-6 months. Symptoms include:

Infantile spasms: Most often in this type of seizure the infant suddenly bends forward at the waist and the body, arms, and legs stiffen. This is sometimes called a“jackknife” seizure. Some infants may instead arch their backs, or bob their heads, or cross their arms across the body like they are hugging themselves. These spasms last a few seconds and occur in clusters of anywhere from 2 to 100 spasms at a time. Some infants have dozens of these clusters of spasms in a day. The spasms most commonly occur after an infant wakes up in the morning or after a nap.

Hypsarrhythmia: An electroencephalogram (EEG)records electrical activity in the brain in the form of brain waves. An infant with West syndrome will have abnormal, chaotic brain wave patterns called hypsarrhythmia.

Mental retardation: this is due to the brain injury that has caused West syndrome

Other symptoms may be present because of the underlying disorder causing West syndrome. Other neurological disorders such as cerebral palsy may also be present.

Diagnosis

West syndrome will be suggested by the presence of infantile spasms. A thorough neurological examination will be done to look for possible causes. This may include laboratory tests and a brain scan using computed tomography (CT)or magnetic resonance imaging (MRI). An EEG will be done to look for the hypsarrhythmia usually present in West syndrome.

Treatment

Most often West syndrome is treated with adrenocorticotropic hormone (ACTH) or prednisone. These treatments may be very effective in stopping or slowing the infantile spasms. Some infants may respond to antiseizure medications such as Felbatol(felbamate),Lamictal(lamotrigine),Topamax(topiramate), or Depakote(valproic acid). Infants with tuberous sclerosis may be treated with vigabatrin (not currently approved for use in the U.S.). Sometimes, removal of damaged brain tissue through brain surgery may be effective.

Infantile spasms usually resolve by about age 5, but more than half of children affected will develop other types of seizures, including Lennox-Gastaut syndrome** Many infants with West syndrome have long-term cognitive and learning impairment, most likely due to the brain damage that caused the infantile spasms.

(**Childhood epileptic encephalopathy, or Lennox-Gastaut syndrome (LGS), is a devastating pediatric epilepsy syndrome constituting 1-4% of childhood epilepsies. The syndrome is characterized by multiple seizure types; mental retardation or regression; and abnormal findings on electroencephalogram (EEG), with paroxysms of fast activity and generalized slow spike-and-wave discharges (1.5-2 Hz)

The most common seizure types are tonic-axial, atonic, and absence seizures, but myoclonic, generalized tonic-clonic, and partial seizures can be observed (see Clinical Presentation). An EEG is an essential part of the workup for LGS. Neuroimaging is an important part of the search for an underlying etiology (see Workup).

A variety of therapeutic approaches are used in LGS, ranging from conventional antiepileptic agents to diet and surgery (see Treatment and Management). Unfortunately, much of the evidence supporting these approaches is not robust, and treatment is often ineffective.

Spasms begin with a sudden, rapid, tonic contraction of trunk and limb musculature that gradually relaxes over 0.5-2 seconds. Contractions can last 5-10 seconds. The intensity of spasms may vary from a subtle head nodding to a powerful contraction of the body.

Infantile spasms usually occur in clusters, often several dozen, separated by 5-30 seconds. Spasms frequently occur just before sleep or upon awakening. They can be observed during sleep, although this is rare. Spasms can be flexor, extensor, or a mixture of flexion and extension.

Flexor spasms consist of brief contractions of the flexor muscles of the neck, trunks, and limbs, resulting in a brief jerk. They may resemble a self-hugging motion and often are associated with a cry. The patient then relaxes, and the jerk repeats. These attacks occur in clusters throughout the day and last anywhere from less than 1 minute to 10-15 minutes or longer in some patients.

Extensor spasms consist of contractions of the extensor musculature, with sudden extension of the neck and trunk and with extension and abduction of the limbs. Extensor spasms and asymmetrical or unilateral spasms often are associated with symptomatic cases.

Mixed spasms are the most common type, consisting of flexion of the neck and arms and extension of the legs or of flexion of the legs and extension of the arms. In different series, the frequency of the 3 spasm types were 42-50% mixed, 34-42% flexor, and 19-23% extensor.

West syndrome or West's Syndrome is an uncommon to rare epileptic disorder in infants. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancet in 1841. The original case actually described his own son, James Edwin West (1840–1860).[1] Other names for it are "Generalized Flexion Epilepsy", "Infantile Epileptic Encephalopathy", "Infantile Myoclonic Encephalopathy", "jackknife convulsions", "Massive Myoclonia" and "Salaam spasms".

The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called), and developmental regression[2] - although the international definition requires only two out of these three elements. The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes ("polyetiology"). The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal.

9 Februarie 2004 het Dr Lippert vir my spuitstof gegee waarmee ek Henru vir 12 dae moes spuit en dan kyk wat gebeur. Na die 6de dag het die konvulsies begin verminder. Teen die 10de dag was dit korter en na die laaste inspuiting was daar geen konvulsies meer nie. Hy het egter toe begin om meer spasties te raak en sedert die ongeluk of wanneer hy werklik seer het, het hy vir die eerste keer begin huil tydens hierdie spasmas. Dr Zorio het vir my pynstillers en spierverslappers voorgeskryf, maar sodra dit uitgewerk is, dan was die seer weer terug. Dr Lippert het die keer vir my Lioresal gegee wat baie gehelp het en gebruik ons dit vandag nog van tyd tot tyd, veral na operasies.

 

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