Costello syndrome with pancreatic islet cell hyperplasia

Patricia I. Dickson, Norman Y. Briones, Barry G. Baylen, Adam J. Jonas, Samuel W. French, Henry J. Lin

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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.

Original languageEnglish
Pages (from-to)402-405
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume130 A
Issue number4
DOIs
StatePublished - Nov 1 2004

Keywords

  • Costello syndrome
  • Insulin
  • Islet cell hyperplasia

Fingerprint

Dive into the research topics of 'Costello syndrome with pancreatic islet cell hyperplasia'. Together they form a unique fingerprint.

Cite this