Humans ; Consensus ; Congenital Hyperinsulinism

A four-year-old female who was born term via spontaneous vaginal delivery with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6th hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.
Congenital Hyperinsulinism ; Somatostatin

Congenital Hyperinsulinism ; diagnosis ; therapy ; Humans

Recently, the incidence of thyroid nodule has been rising due to the usage of ultrasonography in health check-up. Also, modern society is faced with increasing rates of obesity by sedentary life style and high caloric intake. Obesity is closely related to metabolic syndrome and insulin resistance. Insulin resistance leads to hyperinsulinemia, increased insulin-like growth factor 1 and alteration of adipocytokine level. These factors not only have a role in metabolic regulation, but they also have mitogenic effect in cell proliferation. Epidemiologic and clinical evidence about the association between obesity and thyroid nodule are reviewed in this section.
Cell Proliferation ; Energy Intake ; Hyperinsulinism ; Incidence ; Insulin Resistance ; Life Style ; Metabolic Syndrome X ; Obesity* ; Thyroid Gland* ; Thyroid Nodule* ; Ultrasonography

Nesidioblastosis, also known as persistent hyperinsulinemic hypoglycemia of infancy(PHHI) or familial hyperinsulinsm, is the most common cause of recurrent severe hypoglycemia in infancy. It is an autosomal recessive disorder characterized by irregular insulin secretion leading to inappropriately raised plasma insulin concentration compared to blood glucose levels. Recently, mutations in the sulfonylurea receptor(SUR) have been described in association with PHHI. The mainstay of medical treatment is glucose infusion and diazoxide or long acting somatostatin. If medical treatment fails in preventing hypoglycemia, near total pancreatectomy is recommended. We report one case of nesidioblastosis cured by near total pancreatectomy with brief review of literatures.
Blood Glucose ; Congenital Hyperinsulinism* ; Diazoxide ; Glucose ; Humans ; Hypoglycemia ; Infant, Newborn* ; Insulin ; Nesidioblastosis* ; Pancreatectomy ; Plasma ; Somatostatin

Nesidioblastosis, persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a disorder characterized by diffuse pancreatic islet cell hyperplasia arising from the ductal epithelium. Patients usually present during the neonatal or infantile period with apnea, hypotonia, poor feeding, lethargy, or seizure. Despite of greater awareness, one in three has some degree of mental retardation by the time the diagnosis is made. The diagnosis is established by demonstrating high plasma insulin concentration during an episode of hypoglycemia. This hypoglycemia is initially managed medically, but these medical treatment modalities are failed in more than half of nesidioblastosis. Patient who failed to respond to optimal medical treatment should be referred for surgery early, if permanent neurologic damage is to be avoided. The surgical procedure of choice is near total pancreatectomy (95~98% resection). We herein discuss the anesthetic management of a patient with nesidioblastosis who presented for near total pancreatectomy.
Apnea ; Congenital Hyperinsulinism ; Diagnosis ; Epithelium ; Humans ; Hyperinsulinism ; Hyperplasia ; Hypoglycemia ; Infant* ; Insulin ; Intellectual Disability ; Islets of Langerhans ; Lethargy ; Metabolism ; Muscle Hypotonia ; Nesidioblastosis* ; Pancreatectomy ; Plasma ; Seizures

Congenital Hyperinsulinism ; diagnosis ; Humans ; Infant, Newborn ; Male

Nesidioblastosis is a term that describes multifocal hyperplasia of all panereatic cell components and is characterized primarily by their disorganization and proliferation throughout the entire panaeas. Adult onset nesidioblastosis is an extremely rare entity associated with hypersecretion of insulin. The authors have recently experieneed a case of nesidioblastosis in an adult. A 41-year old man was admitted due to interrnittenr hypoglycemic symptoms, that had been relieved by carbohydrate ingestion. Hyperinsulinemic hypoglycemia was documented during prolonged fast. Under the presumptive diagnosis of insulinoma, abdominal CT, celiac angiogram and percutaneous transhepatic portal venous sampling were done but we could not find any definitive mass. Eight-five percent of the panacas was removed. Pathologic examination of the resected pancreas revealed irregularly sized islets and scattering of small endocrine cell clusters throughout the acinar tissue and ductuloinsular complex.
Adult ; Cellular Structures ; Congenital Hyperinsulinism ; Diagnosis ; Eating ; Endocrine Cells ; Humans ; Hyperplasia ; Hypoglycemia ; Insulin ; Insulinoma ; Nesidioblastosis ; Pancreas ; Tomography, X-Ray Computed

Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. It is caused by an inappropriate insulin secretion from the pancreatic beta-cells secondary to various genetic disorders. Recognition of this entity becomes important due to the fact that hypoglycemia is very severe and frequent and that it may lead to severe neurological damage in the infant manifesting as mental or psychomotor retardation or even a life-threatening events if not recognized and treated effectively in time. Hypoglycemias can be detected by seizures, fainting, or any other neurological symptoms in the neonatal period or later, usually within the first two years of life. Hypoglycemias must be rapidly and intensively treated to prevent severe and irreversible brain damages. Next, a treatment to prevent the recurrence of hypoglycemia must be set, which may include frequent and glucose-enriched feeding, diazoxide and octreotide. We report a case of congenital hyperinsulinemia in a 2 months old infant presenting as atonic seizure which has been treated with diazoxide.
Brain ; Congenital Hyperinsulinism* ; Diazoxide ; Humans ; Hyperinsulinism ; Hypoglycemia ; Infant* ; Insulin ; Octreotide ; Recurrence ; Seizures* ; Syncope

Congenital hyperinsulinism (CHI), the most important cause of hyperglycemia in early infancy, is a heterogenous disease characterized by dysregulation of insulin secretion. Mutations in five proteins have been associated with CHI: sulfonyl urea receptor 1; Kir 6.2; glucokinase; glutamate dehydrogenase and mitochondrial enzyme short-chain 3-hydroxyacyl-coenzyme A dehydrogenase. Early recognition of hypoglycemia, diagnosis of CHI and appropriate management of the hypoglycemia are of the utmost importance to prevent neurologic damage. We report a case of persistent hyperinsulinemic hypoglycemia in 8-month-old male infant. This patient has no mutation in previously mentioned genes. Treatment with diazoxide was successful without any severe side effects in this patient.
Congenital Hyperinsulinism* ; Diagnosis ; Diazoxide* ; Glucokinase ; Glutamate Dehydrogenase ; Humans ; Hyperglycemia ; Hyperinsulinism ; Hypoglycemia ; Infant ; Insulin ; Male ; Oxidoreductases ; Urea