Answer: MELAS syndrome Little benefit to patient even if we diagnose early...becos there is no effective Rx. But yes we can bring an end to unnecessary investigations if diagnosed early. The biggest blessing ( in disguise ) of early diagnosis is that another disabled child will not be born to the family as this condition being inherited from mitochondrial DNA will invariably pass to every kid. Credit to E M Mike ( once again ) for clinching the diagnosis. (Y)