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In this case presentation, we presented a six month-old male patient who developed West syndrome related with vitamin [B.
As a typical example, ARX phenotypes can be responsible either in the West syndrome or in lissencephaly In contrast, we do not have any particular causative gene or genes in well known, classic electroclinical syndromes such as JAE or JME.
EEG done was showing modified hypsarrythmia, hence diagnosed as a case of west syndrome and baby was started on injection ACTH at 30 units then gradually increased to 60 units depending upon the response of baby.
When we found out she was having seizures they sent her to Alder Hey and they said she had West syndrome," Amy said.
The youngster has a range of chronic disabilities including, microcephaly, global development delay, low white matter and myelin levels in brain, West Syndrome, spasticity, visual impairment, talipes (club foot), strabismus (crossed eyes), face sensitivity, gastroesophageal reflux disease and osteoporosis.
He said a tragedy in his family made him realise he has to stay fit for Emmet Jnr, who suffers from a rare condition called West syndrome that means he needs 24-hour care.
If there is mental retardation with infantile spasm, it is called West syndrome which is more non-responsive to treatment than the idiopathic variety, he added.
West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and frequently followed by other types of epilepsy.
The six-year-old, from Griffinstown, Co Carlow, was diagnosed with rare West Syndrome when he was just a baby.
At the conference was Mohammad Souadi, with his 5-year-old son Jad, who suffers from West Syndrome, an epileptic disorder.
An infantile spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome.

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