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Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.

Ağladıoğlu SY, Savaş Erdeve S, Cetinkaya S, Baş VN, Peltek Kendirci HN, Onder A, Aycan Z - J Clin Res Pediatr Endocrinol (2013)

Bottom Line: 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.Long-term careful monitoring is needed to detect and treat the complications.

View Article: PubMed Central - PubMed

Affiliation: Dr. Sami Ulus Training and Research Children's Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. E-mail: sebahatyilmaz@yahoo.com.

ABSTRACT

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.

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Related in: MedlinePlus

Treatment outcome 17 patients with hyperinsulinemichypoglycemia (HIH)
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f1: Treatment outcome 17 patients with hyperinsulinemichypoglycemia (HIH)

Mentions: All patients were treated with diazoxide either alone or together with thiazide diuretics starting at the time of diagnosis. The mean effective dose of diazoxide was 11.1±2.64 mg/kg/day (range, 5-15 mg/kg/day). Treatment outcomes in these patients are given in Figure 1. Dechallenge was performed when blood glucose levels were at normoglycemic levels of >60 mg/dL, and rechallenge - when the diazoxide treatment dose was <5 mg/kg/day. Medical treatment failed to maintain normoglycemia only in two patients. Medical treatment was ceased in eight patients. Four patients among the seven patients who were on medical treatment received diazoxide treatment alone; the other three patients were treated with diazoxide combined with thiazide diuretics. In one of the two diazoxide-unresponsive patients, the parents refused surgery and the patient was administered a treatment regimen comprising diazoxide, octreotide, and hydrochlorothiazide. The other unresponsive patient underwent near-total pancreatectomy on postnatal day 40. The definitive histological finding in this patient was diffuse ß-cell hyperplasia. The ABCC8 gene in intron 14, c2041-25G>A showed a homozygous aberrant splicing mutation during genetic investigation that was not previously reported in the literature. Hypoglycemic episodes continued after surgery and could be controlled by diazoxide, octreotide, and hydrochlorothiazide therapy. A complementary surgery was not performed because of the increased risk of comorbidities. At the last follow-up visit, this patient was 18 months old, and although all of the cranial MRI, EEG, and BAEP results were normal, the VEP test revealed prolonged latency, and neurological examination indicated mild motor-mental retardation.


Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.

Ağladıoğlu SY, Savaş Erdeve S, Cetinkaya S, Baş VN, Peltek Kendirci HN, Onder A, Aycan Z - J Clin Res Pediatr Endocrinol (2013)

Treatment outcome 17 patients with hyperinsulinemichypoglycemia (HIH)
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3814529&req=5

f1: Treatment outcome 17 patients with hyperinsulinemichypoglycemia (HIH)
Mentions: All patients were treated with diazoxide either alone or together with thiazide diuretics starting at the time of diagnosis. The mean effective dose of diazoxide was 11.1±2.64 mg/kg/day (range, 5-15 mg/kg/day). Treatment outcomes in these patients are given in Figure 1. Dechallenge was performed when blood glucose levels were at normoglycemic levels of >60 mg/dL, and rechallenge - when the diazoxide treatment dose was <5 mg/kg/day. Medical treatment failed to maintain normoglycemia only in two patients. Medical treatment was ceased in eight patients. Four patients among the seven patients who were on medical treatment received diazoxide treatment alone; the other three patients were treated with diazoxide combined with thiazide diuretics. In one of the two diazoxide-unresponsive patients, the parents refused surgery and the patient was administered a treatment regimen comprising diazoxide, octreotide, and hydrochlorothiazide. The other unresponsive patient underwent near-total pancreatectomy on postnatal day 40. The definitive histological finding in this patient was diffuse ß-cell hyperplasia. The ABCC8 gene in intron 14, c2041-25G>A showed a homozygous aberrant splicing mutation during genetic investigation that was not previously reported in the literature. Hypoglycemic episodes continued after surgery and could be controlled by diazoxide, octreotide, and hydrochlorothiazide therapy. A complementary surgery was not performed because of the increased risk of comorbidities. At the last follow-up visit, this patient was 18 months old, and although all of the cranial MRI, EEG, and BAEP results were normal, the VEP test revealed prolonged latency, and neurological examination indicated mild motor-mental retardation.

Bottom Line: 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.Long-term careful monitoring is needed to detect and treat the complications.

View Article: PubMed Central - PubMed

Affiliation: Dr. Sami Ulus Training and Research Children's Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. E-mail: sebahatyilmaz@yahoo.com.

ABSTRACT

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.

Show MeSH
Related in: MedlinePlus