Conclusion
We describe the ninth individual presenting with hypoketotic
hypoglycemic secondary to an activating AKT2 mutation causing
autonomous activation of the downstream insulin signaling cascade. Our
patient’s dysmorphic features, developmental delay, and hemihypertrophy
provide additional evidence of a broad phenotypic spectrum. Due to the
anticipated lifelong duration of treatment, safe and tolerable options
are needed. Our initial success with WMHMS indicates it is a promising
option, although additional research is needed to establish dosing.