case_images: PMC11782026_01
case_images: Pedigrees of two families described. Arrows indicate probands. Squares depict males and circles depict females. Filled symbols indicate diffuse HI. Half-shaded symbols indicate carrier of HI; empty symbol indicates unaffected with HI; * indicates focal HI; n/M, mutation carrier; n/n, mutation negative; ?/n, carrier status unknown; M/M, two mutations.
case_images: fped-12-1520871-g001.jpg
case_images: PMC11782026_01_fped-12-1520871-g001.jpg
case_images: F1
case_images: The second family's (Figure 1) 5-month-old son presented to an outside hospital with seizure activity and a plasma glucose of 47 mg/dl (2.6 mmol/L).