Abstract
Dominantly transmitted asymptomatic HPI was discovered in 4 generations of a family by Gabbay et al. We add 2 instances of a white newborn girl and a black 11-month-old boy with profound HG. The girl developed HG (<5mg/dl) at 30 hrs with hypothermia and seizures; she was poorly controlled with cortisol and IV glucose (G), very sensitive to glucagon at 2 wks (from 19 to 70 mg/dl) and rapidly responsive to oral diazoxide (DZX). DZX suppressed insulin (I) levels from max 100μU/ml at 19mg/dl G to 7 at 142mg/dl. 80% pancreatectomy was done at age 10 wks; nesidioblastosis was found. Remission lasted 2 mos. DZX was again effective; the most recent effort to stop DZX, at age 5, failed after 10 days without drug when G was 17-40mg/dl, I 20μU/ml and PI 54% (n1 5-22). Parents, 2 sibs, maternal aunt and paternal grandmother had n1 % PI; mat. grandmother had increase (44%). The boy had fasting seizure with G 32mg/dl, glucagon response (26-134), inappropriate I/G (13μU/ml / 19mg/dl, 16/16, 27/36) and HPI (75%). He responded to DZX after 5 days (G 69-107). 80% pancreatectomy was done at age 20 months; histology was normal. Recurrence was complete 4 mos later and DZX effective. Father, young and lean, had fasting hyperI (53μU/ml) and HPI (31%) with normal G tolerance. Mother and sister had normal % PI. HFI is not diagnostic of adenoma in infants with HG, but may indicate a familial abnormality. Good response to DZX may be a contraindication to surgery despite hyperI and/or HPI.
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Rosenbloom, A., Rubenstein, A. & Donnelly, W. INFANTILE HYPOGLYCEMIA (HG) FROM FAMILIAL HYPERPROIN SULINISM (HPI). Pediatr Res 11, 521 (1977). https://doi.org/10.1203/00006450-197704000-00909
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DOI: https://doi.org/10.1203/00006450-197704000-00909