...David Lapidus; Diva D. De León; Paul S. Thornton; Davelyn Hood; Jeffrey Breit; Julie Raskin; Tai L.S. Pasquini Background: Congenital hyperinsulinism (HI) is a rare pediatric disease and the most common cause of severe, persistent hypoglycemia in childhood. It is characterized by the dysregulation...

...: To evaluate and describe the diagnostic process, medical, nutritional, and surgical approach, and neurological outcome, we report data from a large Italian cohort of patients with congenital hyperinsulinism (CHI). Methods: We retrospectively analyzed 154 CHI patients admitted to Ospedale Pediatrico Bambino...

...Lucy A. Hastings; John Preddy; Michael McCready; Kristen Neville; Charles F. Verge Background: Diazoxide is widely used to manage congenital hyperinsulinism and is generally well tolerated. Pericardial effusion is not a recognized side effect of diazoxide, apart from 2 single case reports. Case...

...Shenali Anne Amaratunga; Tara Hussein Tayeb; Klara Rozenkova; Petra Kucerova; Stepanka Pruhova; Jan Lebl Introduction: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Biallelic pathogenic variants in K ATP channel subunit genes ( ABCC8...

...Mary Ellen Vajravelu; Morgan Congdon; Lauren Mitteer; Jamie Koh; Stephanie Givler; Justine Shults; Diva D. De León Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center’s HI...

...Christopher E. Gibson; Kara E. Boodhansingh; Changhong Li; Laura Conlin; Pan Chen; Susan A. Becker; Tricia Bhatti; Vaneeta Bamba; N. Scott Adzick; Diva D. De Leon; Arupa Ganguly; Charles A. Stanley Background: Previous case reports have suggested a possible association of congenital hyperinsulinism...

...Ivo van der Steen; Mirjam E. van Albada; Klaus Mohnike; Henrik Thybo Christesen; Susann Empting; Maria Salomon-Estebanez; Amalie Greve Rasmussen; Annemarie Verrijn Stuart; Annelieke A.A. van der Linde; Indraneel Banerjee; Annemieke M. Boot Background/Aims: Congenital hyperinsulinism (CHI) is a rare...

...Anja Ludwig; Simone Enke; Janine Heindorf; Susann Empting; Thomas Meissner; Klaus Mohnike Background: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8...

... in ABCC8 or KCNJ11 within the pancreatic tissue [ 5,6 ]. We now report a patient with congenital hyperinsulinism with hemihypertrophy resulting from novel paternally inherited, recessively acting KCNJ11 mutation(s), which have been unmasked by paternal uniparental isodisomy that extends from 11p15.5...

...Pratik Shah; Sofia A. Rahman; Sharon McElroy; Clare Gilbert; Kate Morgan; Louise Hinchey; Senthil Senniappan; Hannah Levy; Rakesh Amin; Khalid Hussain Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia due to unregulated insulin secretion from pancreatic β cells. Medical management...

...Beom Hee Lee; Jin Lee; Jae-Min Kim; Minji Kang; Gu-Hwan Kim; Jin-Ho Choi; Jihun Kim; Chong Jai Kim; Dae-Yeon Kim; Seong-Chul Kim; Han-Wook Yoo Background/Aims: This study was performed to investigate the molecular pathology underlying focal and diffuse congenital hyperinsulinism (CHI). Methods...

...Chang Su; Chunxiu Gong; Paul Sanger; Wenjing Li; Di Wu; Yi Gu; Bingyan Cao Objectives: Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. Method: 27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term...

...Klaus Mohnike; Ilse Wieland; Winfried Barthlen; Silke Vogelgesang; Susann Empting; Wolfgang Mohnike; Thomas Meissner; Martin Zenker Congenital hyperinsulinism (CHI) causes hypoglycemia due to irregular insulin secretion. In infants, a rapid diagnosis and appropriate management to avoid severe...

...Nurullah Çelik; Peyami Cinaz; Hamdi Cihan Emeksiz; Khalid Hussain; Orhun Çamurdan; Aysun Bideci; Esra Döğer; Özge Yüce; Zafer Türkyılmaz; Ayşe Deniz Oğuz Background/Aims: Congenital hyperinsulinism (CHI) denotes an inappropriate secretion of insulin from pancreatic β-cells in the presence of a low...

...Paola Sogno Valin; Maria Carla Proverbio; Cecilia Diceglie; Alessandra Gessi; Stefania di Candia; Benedetta Mariani; Ilaria Zamproni; Eleonora Mangano; Rosanna Asselta; Cristina Battaglia; Manuela Caruso-Nicoletti; Stefano Mora; Alessandro Salvatoni Background/Aims: Congenital hyperinsulinism...

... or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Congenital hyperinsulinism Lanreotide Beta cell Treatment Insulin...

...Tohru Yorifuji; Yuki Hosokawa; Rika Fujimaru; Rie Kawakita; Hiraku Doi; Takako Matsumoto; Hironori Nishibori; Michiya Masue Background: Positron emission tomography (PET) using 18 F-DOPA is a useful tool for detecting the focal forms of congenital hyperinsulinism. 18 F-DOPA is taken up by aromatic...

...Winfried Barthlen; Wolfgang Mohnike; Klaus Mohnike For surgery in congenital hyperinsulinism (CHI), a distinct surgical strategy and technique is required for focal, diffuse and atypical CHI. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT...

...Winfried Barthlen; Wolfgang Mohnike; Klaus Mohnike For surgery in congenital hyperinsulinism (CHI), a distinct strategy and technique is required for focal, diffuse and atypical types. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always...

...K. Mohnike; O. Blankenstein; H. Minn; W. Mohnike; F. Fuchtner; T. Otonkoski In recent years, considerable progress has been made in the biochemical, morphological and molecular genetic differentiation of congenital hyperinsulinism (CHI). Fluorine-18 L -3,4-dihydroxyphenylalanine positron emission...