ESPE Abstracts

Background: Although it is known that hypoglycaemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinaemic hypoglycaemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in first year of life characterized by the occurrence of sudden, brief, generally bilateral and symetric motor spasms of muscles of t...

Background: Neonatal hyperinsulinaemic hypoglycaemia (HH) has recently been recognized as a consequence of mutations in HNF1A, which also cause maturity-onset diabetes of the young (MODY) later in life.Aims: To report phenotypic and genetic investigations of two patients with functional characterisation of identified mutations in HNF1A.Case reports: Two unrelated patients presented with HH requiring i.v. glucose a...

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. Mutations in the HNF4A gene lead to transient hyperinsulinism in early infancy and maturity-onset diabetes of youth (MODY1), later in life. Fanconi syndrome is a generalised dysfunction of the renal proximal tubule with a loss of glucose, amino acids, phosphate, low molecular weight proteins, bicarbonate and urate, causing growth failure and rickets in childho...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...

Background: Neonatal hypoglycaemia is an emergency condition requiring immediate treatment to prevent serious outcomes. Today blood glucose meter is a current methods for detecting blood glucose in health centre of our country.Objective and hypotheses: To determine the accuracy of blood glucose meter in comparison to laboratory method in detecting neonatal hypoglycaemia.Method: This cross-sectional study was conducted in the neonat...

Background: Glycogen-storage disease type VI (GSD VI) is an autosomal recessive disorder due to deficiency of the liver isoform of phosphorylase resulting in abnormal accumulation of glycogen. Patients typically present in early childhood with growth retardation, hepatomegaly, hypoglycaemia and ketosis. Ketotic hypoglycaemia is a relatively common diagnosis (of exclusion) in children presenting with hypoglycaemia.Case: A 3-year-old girl presented with an...

Background: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycaemia in infancy.Case presentation: Here we describe an Egyptian male neonate first order of birth born to non-consanguineous healthy parents. At day 1 of age he presented with severe hypoglycemia and generalised seizures. At the time of hypoglycaemia (16 mg/dl) insulin and C-peptide levels were increased (insul...

Background: Congenital hyperinsulinism (CHI) is a cause of severe persistent hypoglycaemia in children. Diazoxide is the first line medical therapy for CHI; however diazoxide is usually ineffective in CHI with KATP channel gene mutations. Patients with no mutations in the KATP channel genes do respond to therapy with diazoxide. There are no previous studies assessing how long diazoxide therapy is needed in those patients with no genetic aetiology identifi...

Background: In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to hypoglycaemia. It is possible that other pancreatic hormones are also dysregulated in CHI.Objectives: i) To verify the utility of Luminex Multiplex to determine pancreatic hormones in the paediatric age. ii) To investigate the response of pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) to a fast in children with CHI due to different...

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...

Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first ca...

Background: Congenital hyperinsulinaemic hypoglycaemia (CHI) can cause various degrees of hypoglycaemia in infancy. In mild CHI, unnoticeable recurrent hypoglycaemia may cause deterioration of central neurological functions in patients. We report a case of mild CHI that presented with developmental delay without any previous hypoglycaemic events.Case presentation: An 18-month-old Japanese girl was admitted to our hospital with seizures and unconsciousnes...

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

Background: Most infants with persistent hyperinsulinaemic hypoglycaemia (PHH) are born large for gestational age (LGA) due to excessive anabolic effect of prenatal hyperinsulinism. However, other auxological characteristics than weight in infants with PHH have not been described well.Objective: The objective of this investigation was to characterize anthropometric parameters at birth (weight, length, and head circumference) in PHH compared with those in...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycemia in childhood, and diagnosis and treatment of CHI is one of the most difficult aspects of modern endocrinology and diabetology. In half of infants suffering from congenital hyperinsulinism, which may require resection of pancreatic, potentially curable focal form can be found. Recently introduced diagnostic imaging using 18F-DOPA-PET allows for differentiation as a diffuse and focal...

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children. Mutations in KCNJ11 and ABCC8 genes coding potassium channel subunits are responsible for a significant proportion of CHI patients. The type of mutation correlates with the type of B-cell hyperplasia (focal or diffuse), and determinates further diagnostics, treatment and prognosis of disorder.Aims and objectives: The aim of ...

Background: Hyperinsulinism is a common cause of persistent hypoglycaemia in infant. Insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose, causing glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to hyperinsulinaemic hypoglycaemia. But congenital portosystemic shunt, a rare vascular malformation, can cause hyperinsulinaemic hypoglycaemia rarely because glucose from portal...

Background: Herediter hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individulals present at early infancy with severe hypocalcemia and hypomagnesemia which leads to tetany and seizures.Objective and hypotheses: In this report, we want to present the clinical features, treatment regimen, follow-up of a patient with a novel h...

Background: Congenital hyperinsulinism (CHI), is the most common cause of severe hypoglycaemia in neonates and infants. The cornerstone of medical therapy is diazoxide. Octreotide, a somatostatin analogue, is the second therapeutic option in diazoxide unresponsive cases. However, due to its short half-life and requirement of multiple daily doses, lack of compliance may cause recurring hypoglycaemia and related neurological deficits, particularly for the family with low socioec...

Background: Only a few case reports have described isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in children.Objectives: To describe a single tertiary paediatric centre’s experience in the management of isolated PPHH.Patients and methods: Six children (three females) were identified. A retrospective review of the clinical characteristics, diagnosis, management and follow-up of patients with PPHH was performed. I...

Background: Congenital hyperinsulinism (CHI) is a heterogenous disorder characterized by hyperinsulinaemic hypoglycaemia, and may present in the neonatal period in severe forms of the disease. Molecular defects involving eight genes has been described so far. Herein we report a case of severe, diazoxide unresponsive CHI caused by two homozygous novel missense mutations in the KCNJ11 gene.Case report: An 8-day old girl was referred for hyperinsul...

Background: Congenital glucose–galactose malabsorbtion is a rare autosomal recessive disorder of intestinal transport of glucose and galactose. It is characterized by watery diarrhoea, dehydration, failure to thrive, or early death without appropriate dietary treatment.Case presentation: The patient was 15 days old when he was admitted to the hospital because of continued, severe, watery, acidic diarrhoea and hypernatremic dehydration. The abnormal ...

Background: Evaluation of persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) requires accurate anatomic diagnosis for appropriate medical/surgical management. 18F-DOPA PET scan is used to localise the disease in pancreas, but is not available in many centres.Objective and hypotheses: We were highly restrained by the availability of investigations for evaluation of PHHI, especially 18F-DOPA. To localise the disease process,...

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...