TY - JOUR
T1 - Costello syndrome with pancreatic islet cell hyperplasia
AU - Dickson, Patricia I.
AU - Briones, Norman Y.
AU - Baylen, Barry G.
AU - Jonas, Adam J.
AU - French, Samuel W.
AU - Lin, Henry J.
PY - 2004/11/1
Y1 - 2004/11/1
N2 - 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.
AB - 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.
KW - Costello syndrome
KW - Insulin
KW - Islet cell hyperplasia
UR - http://www.scopus.com/inward/record.url?scp=7444248370&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30288
DO - 10.1002/ajmg.a.30288
M3 - Article
C2 - 15384101
AN - SCOPUS:7444248370
SN - 1552-4825
VL - 130 A
SP - 402
EP - 405
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -