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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p3-1058 | Hypo | ESPE2015

Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia

Anik Ahmet , Anik Ayse , Unuvar Tolga , Tosun Ayse Fahriye , Dursun Siar , Akcan Abdullah Baris , Durum Yasemin , Turkmen Munevver Kaynak

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...

hrp0084p3-1059 | Hypo | ESPE2015

Hyperglycemia Preceded by Neonatal Hyperinsulinemic Hypoglycemia in Infants with Novel HNF1A Mutations

Malikova Jana , Obermannova Barbora , Rozenkova Klara , Dusatkova Lenka , Dusatkova Petra , Bjorkhaug Lise , Aukrust Ingvild , Lebl Jan , Pruhova Stepanka

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...

hrp0084p3-1060 | Hypo | ESPE2015

Transient Congenital Hyperinsulinism and Renal Fanconi Syndrome

Brichta Corinna Melanie , Pohl Martin , Lausch Ekkehart , Kohlhase Jurgen , van der Werf-Grohmann Natascha , Wurm Michael , Krause Alexandra , Schwab Karl Otfried

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...

hrp0084p3-1061 | Hypo | ESPE2015

Clinical Characteristics and Molecular Analysis of Turkish Patients with Congenital Hyperinsulinism: a Single-Centre Experience with 15 Cases

Agladioglu Sebahat Yilmaz , Aycan Zehra , Cetinkaya Semra , Erdeve Senay Savas , Sagsak Elif , Keskin Meliksah , Kurnaz Erdal , Flanagan Sarah E , Ellard Sian , Hussain Khalid

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...

hrp0084p3-1062 | Hypo | ESPE2015

Congenital Hyperinsulinaemic Hypoglycaemia of Infancy, Renal Fanconi Syndrome and Hepatopathy due to a Mutation in the hnf4a Gene

Pieck Alejandro Vargas , Leon Maria Clemente , Martorell Ariana Campos , Gonzalez Luis Castano , Iraola Gema Ariceta , Lezcano Antonio Carrascosa

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., ...

hrp0084p3-1063 | Hypo | ESPE2015

Genotype–Phenotype Associations in 90 Children with Congenital Hyperinsulinism

Melikyan Maria , Christesen Henrik , Petryakina Elena , Tulpakov Anatoly , Tihonovich Julia , Stepanov Alexey , Kareva Maria , Flanagan Sarah , Ellard Sian , Brusgaard Klaus , Peterkova Valentina , Hussain Khalid

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...

hrp0084p3-1064 | Hypo | ESPE2015

Comparison of Diagnosis Value of Glucometer with Laboratory Method in Neonatal Hypoglycaemia

Ghergherehchi Robabeh , Gharehbaghi Manizheh Mostafa , Hazhir Nazanin

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...

hrp0084p3-1065 | Hypo | ESPE2015

Glycogen-Storage Disease Type VI in a Girl Presenting with Recurrent Ketotic Hypoglycaemia but No Hepatomegaly

Price Victoria , Didi Mohammed , Morris Andrew , Senniappan Senthil

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...

hrp0084p3-1066 | Hypo | ESPE2015

Congenital Hyperinsulinism in a Newborn with a Novel Paternally Inherited Heterozygous Mutation (p.E1517G) in the ABCC8 Gene

Elbarbary Nancy , Ellard Sian , Hussain Khalid

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...

hrp0084p3-1067 | Hypo | ESPE2015

Discontinuation of Diazoxide Therapy in Children with Hyperinsulinaemic Hypoglycaemia with no Identified Genetic Aetiology: a Long-term Follow-up Study

Al Yahyaei Mouza , Shah Pratik , Guemes Maria , Gilbert Clare , Morgan Kate , Flanagan Sarah , Ellard Sian , Hussain Khalid

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...

hrp0084p3-1068 | Hypo | ESPE2015

Pancreatic Hormones in Children with Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Gilbert Clare , Morgan Kate , Rahman Sofia , Hussain Khalid

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...

hrp0084p3-1069 | Hypo | ESPE2015

Experience Based on 193 18F-DOPA PET CTs in Patients with Congenital Hyperinsulinism: Pearls and Pitfalls in Imaging Diagnostics in Patients with CHI

Kuhnen Peter , Prasad Vikas , Brenner Winfried , Mohnike Wolfgang , Blankenstein Oliver

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...

hrp0084p3-1070 | Hypo | ESPE2015

Severe Neonatal Hypoglycemia in the Newborn Despite Prenatal Diagnosed Cerebral Midline Malformations: a Review of Three Cases

Reschke Felix , Gemulla Gita , Flury Monika , Brenner Sebastian , Schuetzle Heike , Gurth Heidrun , Hahn Gabriele , Taut Heike , Glajzer Jack , Gottschalk Hans-Christian , Hubner Angela

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...

hrp0084p3-1071 | Hypo | ESPE2015

A Case of Mild Congenital Hyperinsulinaemia Presenting with Developmental Delay, Complicated by Diazoxide-induced Transient Neutropenia

Abe Yuki , Nishizaki Yoshimi , Sato Seiichi

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...

hrp0084p3-1072 | Hypo | ESPE2015

Failure of Sirolimus Response on Three More Cases with a Diffuse Type of Congenital Hyperinsulinism

al Mutair Angham , Al BALWI Rana , al Otaibi Ahlam , Atawi Mohsen

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...

hrp0084p3-1073 | Hypo | ESPE2015

Auxological Characteristics of Persistent Hyperinsulinemic Hypoglycemia at Birth

Shibata Hironori , Yamada Mamiko , Ishii Tomohiro , Matsuzaki Yohei , Ikeda Kazushige , Nagashima Yuka , Takagi Masaki , Hasegawa Yukihiro , Hasegawa Tomonobu

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...

hrp0084p3-1074 | Hypo | ESPE2015

Congenital Hyperinsulinism in Siblings: Case Report

Brandt Agnieszka , Buraczewska Marta , Mysliwiec Malgorzata

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...

hrp0084p3-1075 | Hypo | ESPE2015

Genetic Causes of Congenital Hyperinsulinism in Slovakia

Stanik Juraj , Valentinova Lucia , Skopkova Martina , Rosolankova Monika , Stanikova Daniela , Ticha Lubica , Gasperikova Daniela , Klimes Iwar

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 ...

hrp0084p3-1076 | Hypo | ESPE2015

Hyperinsulinism Secondary to Congenital Portosystemic Shunt in a Neonate

Hong Yong Hee , Lee Dong Hoon , Kim Sung Shin

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...

hrp0084p3-1077 | Hypo | ESPE2015

Clinical Presentation of a Patient with a Novel Homozygous Mutation in the TRPM6 Gene

Altincik Ayca , Schlingmann Karl Peter

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...

hrp0084p3-1078 | Hypo | ESPE2015

Long Acting Somatostatin Analogues in the Management of Congenital Hyperinsulinism in Cases with Poor Compliance to Conventional Therapy

Demirbilek Huseyin , Oncel Kahraman , Ozbek Mehmet Nuri , Deniz Ahmet , Baysal Birsen , Arya Ved Bhushan , Flanagan Sarah E , Ellard Sian , Hussain Khalid

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...

hrp0084p3-1079 | Hypo | ESPE2015

Isolated Postprandial Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Melikyan Maria , Senniappan Senthil , Hussain Khalid

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...

hrp0084p3-1080 | Hypo | ESPE2015

Severe Congenital Hyperinsulinism in a Neonate Homozygous for Two Novel Missense Mutations in the KCNJ11 Gene

Ozon Alev , Alikasifoglu Ayfer , Ellard Sian , Flanagan Sarah , Gonc Nazli , Orhan Diclehan , Ekinci Saniye , Kandemir Nurgun

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...

hrp0084p3-1081 | Hypo | ESPE2015

Congenital Glucose–Galactose Malabsorption in a Male Infant

Slaveska Nevenka , Krstevska-Konstantinova Marina

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 ...

hrp0084p3-1082 | Hypo | ESPE2015

HYNIC TOC: a New Radionuclide Material in the Evaluation of Persistent Hyperinsulinaemic Hypoglycaemia of Infancy: an Alternative to 18F-DOPA?

Ramanathan Gokul , Duraiswamy Ashwath

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,...

hrp0084p3-1083 | Hypo | ESPE2015

Cholestatic Hepatopathy and Hypoglycaemic Seizures as Primary Manifestation of Hypocortisolism in Infancy

Saupp Peter , Fried Michael , Bergmann Carsten , Meissner Thomas , Kummer Sebastian

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 ...