Published evidence: With regards to symptoms, the key findings of Dr McTague's paper in Brain 2013 were:
• As well as frequent focal (partial) seizures, some children had infantile spasms
• Several children had a movement disorder (abnormal uncontrolled movements) in addition to seizures
• A very severe gastrointestinal problem with severe vomiting and diarrhoea was seen in three children
• All the children had very frequent and difficult to treat seizures, in some children these became less with time
• Although all children had the typical EEG findings, features that are seen in other early onset epilepsies such as West syndrome may be seen either before or after
the development of MPSI
• We found new MRI brain scan features such as a lack of brain myelination (the process of insulating the nerve fibres that normally happens over the first two years
of life). In one child the basal ganglia (the part of the brain which regulates movement) were affected. All these changes were in addition to the lack of brain
growth (atrophy) that has been previously reported.
• However the brain MRI scan can be normal, particularly when it is done early in the course of the illness.
• A special type of MRI scan (Magnetic resonance spectroscopy or MRS) showed a lack of brain maturation in 3 of the 4 children where it was done
• No one treatment was effective in the long term but some children did respond for a period of time to the ketogenic diet, steroid treatment and a variety of
different anti-epileptic medicines.