Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.
OBJECTIVE
Hyperinsulinemic hypoglycemia (HIH) is a genetically heterogeneous disorder with both familial and sporadic variants. Patients with HIH may present during the neonatal period, infancy, or childhood and may show transient, prolonged, and persistent features. In this study, we aimed to discuss our experience with HIH patients, based on a series of 17 patients.


METHODS
We retrospectively analyzed the clinical and laboratory characteristics at the time of diagnosis and during treatment and evaluated the neurodevelopmental outcomes during follow-up in 17 HIH patients, who presented or were referred to the Pediatric Endocrinology Clinic of Dr. Sami Ulus Training and Research Children's Hospital between 1998 and 2011. The patients (7 male, 10 female) were aged between the first day of life and 7 years - 10 were in their first week of life, 6 in their infancy, and 1 in childhood.


RESULTS
None of the mothers had gestational diabetes. Hypoglycemic seizure (76.5%) was the most common presenting symptom. Medical treatment failed in two patients, and was stopped in eight patients. Of two diazoxide-unresponsive patients, one underwent near-total pancreatectomy, but hypoglycaemic episodes continued after surgery. The parents of other patient refused surgery, the medical treatment was continued, nevertheless, severe motor and mental retardation developed. At follow-up, 23.5% of the patients were found to have mild or moderate psychomotor retardation, and 23.5% developed epilepsy. There was no marked difference in neurological results between cases with onset in the neonatal period or in infancy.


CONCLUSIONS
Clinical course and treatment response in HIH cases are very heterogeneous. Long-term careful monitoring is needed to detect and treat the complications.
Dr. Sami Ulus Training and Research Children's Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. E-mail: sebahatyilmaz@yahoo.com.
Sebahat Yılmaz
SY
Ağladıoğlu
Senay
S
Savaş Erdeve
Semra
S
Cetinkaya
Veysel Nijat
VN
Baş
Havva Nur
HN
Peltek Kendirci
Aşan
A
Onder
Zehra
Z
Aycan
D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D003981:Diazoxide / Q000627:therapeutic use; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications* / Q000188:drug therapy; D007003:Hypoglycemia / Q000150:complications* / Q000188:drug therapy; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D012189:Retrospective Studies
D003981:Diazoxide