Figure 1: The proband’s facial features including bilateral
proptosis, periorbital edema, and subtle left facial hemihypertrophy.
During admission, a critical sample was drawn due to ongoing
hypoglycemia, which demonstrated hypoketotic hypoglycemia with a
laboratory glucose of 1.8 mmol/L and undetectable serum
beta-hydroxybutyrate. Cortisol was 207 nmol/L, considered inappropriate
in the context of hypoglycemia. To exclude adrenal insufficiency, a
standard dose ACTH stimulation test was performed and returned normal.
The insulin level, acylcarnitine profile, urine organic acids, and
plasma amino acids were not immediately available, as they are processed
at an outside laboratory (Table 1).