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Costello syndrome with pancreatic islet cell hyperplasia
Author(s) -
Dickson Patricia I.,
Briones Norman Y.,
Baylen Barry G.,
Jonas Adam J.,
French Samuel W.,
Lin Henry J.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30288
Subject(s) - hyperplasia , medicine , islet , respiratory distress , abnormality , endocrinology , muscle hypertrophy , autopsy , nesidioblastosis , beckwith–wiedemann syndrome , insulin , biology , surgery , biochemistry , gene expression , psychiatry , dna methylation , gene
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. © 2004 Wiley‐Liss, Inc.