Management

The small number of patients makes it very difficult to make recommendations for management and surveillance. The leading characteristic of a language development delay makes early language support/ speech therapy useful. Likewise, for behavioral therapy (notable social behavior deficits).
Other things to consider:

•    Careful follow-up regarding pediatric tumor diseases.
•    EEG surveillance.
•    An MRI of the head can be considered because of described pineal cysts.
•    Creatinine kinase determination.