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

Humans ; Consensus ; Congenital Hyperinsulinism

Congenital Hyperinsulinism ; diagnosis ; therapy ; Humans

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

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

Among all serious diseases globally, diabetes (type 1 and type 2) still poses a major challenge to the world population. Several target proteins have been identified, and the etiology causing diabetes has been reasonably well studied. But, there is still a gap in deciding on the choice of a drug, especially when the target is mutated. Mutations in the KCNJ11 gene, encoding the kir6.2 channel, are reported to be associated with congenital hyperinsulinism, having a major impact in causing type 1 diabetes, and due to the lack of its 3D structure, an attempt has been made to predict the structure of kir6.2, applying fold recognition methods. The current work is intended to investigate the affinity of four phytochemicals namely, curcumin (Curcuma longa), genistein (Genista tinctoria), piperine (Piper nigrum), and pterostilbene (Vitis vinifera) in a normal as well as in a mutant kir6.2 model by adopting a molecular docking methodology. The phytochemicals were docked in both wild and mutated kir6.2 models in two rounds: blind docking followed by ATP-binding pocket-specific docking. From the binding pockets, the common interacting amino acid residues participating strongly within the binding pocket were identified and compared. From the study, we conclude that these phytochemicals have strong affinity in both the normal and mutant kir6.2 model. This work would be helpful for further study of the phytochemicals above for the treatment of type 1 diabetes by targeting the kir6.2 channel.
Congenital Hyperinsulinism ; Curcumin ; Diabetes Mellitus ; Genistein ; Molecular Docking Simulation ; Phytochemicals*

The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism. The children with HI/HA syndrome present recurrent symptomatic hypoglycemia and asymptomatic, persistent hyperammonemia, caused by mutations of the GLUD1 encoding the mitochondrial enzyme, glutamate dehydrogenase (GDH). The mutations impair sensitivity to the inhibition of GTP (guanosine triphosphate), which results in stimulation of insulin secretion from pancreatic beta-cells and increased rates of ammonia production. Leucine is known to mediate the insulin secretion. We report HI/HA syndrome with a 12-month-old male who had intermittent hypoglycemia. We revealed characteristic clinical findings of hypoglycemia induced by oral administration of protein in this patient who had mutations of GLUD1 (S445L).
Administration, Oral ; Ammonia ; Child ; Congenital Hyperinsulinism ; Glutamate Dehydrogenase ; Guanosine Triphosphate ; Humans ; Hyperammonemia ; Hyperinsulinism ; Hypoglycemia ; Infant ; Insulin ; Leucine ; Male

PURPOSE: Persistent hyperinsulinemic hypoglycemia of infancy(PHHI), which is characterised by inappropriate insulin secretion in spite of hypoglycemia, needs urgent treatment to prevent cerebral hypoglycemic damage. Although pancreatectomy is the treatment of choice for PHHI, there are several complications which follow treatment. We suggest that aggressive medical therapy, when effective, is preferable to partial pancreatectomy. METHODS: We evaluated 8 patients with PHHI admitted to the Department of Pediatrics, Samsung Medical Center from November 1996 to January 1999. Children with hypoglycemia in the range of 3-50mg/dl were included. Octreotide was administered at dosage of 100-150 microgram/day. When the patients did not respond to octreotide, diazoxide and nifedipine were given in addition. RESULTS: In four of eight patients, octreotide was discontinued after 15 to 165 days. One patient was given diazoxide instead. The remaining 3 patients are still being treated with octreotide. CONCLUSION: We believe that maximum effort should be made to attain euglycemia with medication, and pancreatectomy should be reserved for patients in whom these measures fail to restore normoglycemia.
Child* ; Congenital Hyperinsulinism* ; Diazoxide ; Humans ; Hypoglycemia ; Insulin ; Nifedipine ; Octreotide ; Pancreatectomy ; Pediatrics

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