Costello syndrome with pancreatic islet cell hyperplasia

American Journal of Medical Genetics. Part a
Patricia I DicksonHenry J Lin

Abstract

A 3-month-old boy with Costello syndrome (CS) developed respiratory distress and fatal arrhythmias. An autopsy showed cardiac hypertrophy, mild coarctation of the aorta, and pancreatic islet cell hyperplasia. To our knowledge, this is the first report of a pancreatic abnormality in CS. Islet cell hyperplasia has also been observed in leprechaunism, Beckwith-Wiedemann (BWS), and Simpson-Golabi-Behmel syndromes. The syndromes are thought to involve abnormal insulin or insulin-like growth factor (IGF) pathways. Clinical similarities among these disorders and CS, together with the finding of islet cell hyperplasia, suggest that they may be related.

References

Nov 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·E E SchillingA M Rosenberg
Sep 15, 1992·American Journal of Medical Genetics·C L Garganta, J N Bodurtha
Dec 1, 1991·American Journal of Medical Genetics·R A Martin, K L Jones
Sep 1, 1987·Pediatric Research·M E GeffnerD W Golde
Apr 15, 1985·The American Journal of Cardiology·K S KuehlR N Ruckman
Jan 1, 1985·Pediatric Pathology·S KapurR S Chandra
Jun 1, 1994·Journal of Medical Genetics·S J Davies, H E Hughes
Aug 15, 1993·American Journal of Medical Genetics·B SayC York
Aug 15, 1993·American Journal of Medical Genetics·G ZampinoG Neri
Nov 15, 1993·American Journal of Medical Genetics·M Di RoccoC Borrone
Feb 2, 1996·American Journal of Medical Genetics·M MoriM Y Momoi
Feb 25, 1998·Journal of Medical Genetics·R PratesiI Ferrari
Apr 16, 1998·Journal of Medical Genetics·N Philip, S Sigaudy
Sep 17, 1998·The Journal of Pediatrics·J P JohnsonJ C Carey
Oct 22, 1998·American Journal of Medical Genetics·M LiR Weksberg
Oct 28, 1998·Archives of Pediatrics & Adolescent Medicine·H OzbeyW W Tunnessen
May 8, 1999·American Journal of Medical Genetics·A E LinR Weksberg
Feb 13, 2001·American Journal of Medical Genetics·C TandoiB Dallapiccola
Feb 22, 2002·American Journal of Medical Genetics·Karen W GrippElaine H Zackai
Sep 5, 2002·American Journal of Medical Genetics·Angela E LinLinda Nicholson
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Raoul C M Hennekam
Apr 26, 2003·Journal of Pediatric Endocrinology & Metabolism : JPEM·Sabrina MarianiSergio Bernasconi
Aug 26, 2003·Matrix Biology : Journal of the International Society for Matrix Biology·Jennifer L Long, Robert T Tranquillo
Dec 31, 2003·American Journal of Medical Genetics. Part a·Mehtap CakirUmit Karayalcin

❮ Previous
Next ❯

Citations

Jan 11, 2012·Journal of Inherited Metabolic Disease·Senthil SenniappanKhalid Hussain
Jan 19, 2016·The Journal of Pediatrics·Chiara LeoniGiuseppe Zampino
Mar 17, 2009·American Journal of Medical Genetics. Part a·Laura P SmithVirginia K Proud
Apr 23, 2016·American Journal of Medical Genetics. Part a·Natalia Gomez-OspinaLouanne Hudgins
Nov 10, 2005·American Journal of Medical Genetics. Part a·Saji AlexanderKhalid Hussain
Jun 22, 2019·American Journal of Medical Genetics. Part a·Karen W GrippKatherine A Rauen
Dec 17, 2019·European Journal of Pediatrics·Nina D PaauwJohannes M P J Breur

❮ Previous
Next ❯

Related Concepts

Related Feeds

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

Adenoma, Islet Cell

Islet Cell Adenoma arises in the islet cells, which are insulin producing cells of the pancreas. These tumors can be either malignant or benign. Discover the latest research on Islet Cell Adenoma here.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Cardiomegaly

Cardiomegaly, known as an enlarged heart, is a multifactorial disease with different pathophysiological mechanisms. Hypertension, pregnancy, exercise-induced and idiopathic causes are some mechanisms of cardiomegaly. Discover the latest research of cardiomegaly here.

Aortic Coarctation

Aortic coarctation is a congenital condition characterized by narrowing of the aorta. Discover the latest research on this disease here.

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Related Papers

Pediatric Endocrinology Reviews : PER
Itay Bentov, Haim Werner
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
R FukuzawaJ Hata
European Journal of Medical Genetics
Trine E Prescott, Raoul C M Hennekam
© 2021 Meta ULC. All rights reserved