Please use this identifier to cite or link to this item:
Type: Artigo de periódico
Title: Long-term Follow-up Of An 8-year-old Boy With Insulinoma As The First Manifestation Of A Familial Form Of Multiple Endocrine Neoplasia Type 1.
Author: Fabbri, Helena Campos
Mello, Maricilda Palandi de
Soardi, Fernanda Caroline
Esquiaveto-Aun, Adriana Mangue
Oliveira, Daniel Minutti de
Denardi, Fernanda Canova
Moura-Neto, Arnaldo
Garmes, Heraldo Mendes
Baptista, Maria Tereza Matias
Matos, Patrícia Sabino de
Lemos-Marini, Sofia Helena Valente de
D'Souza-Li, Lilia Freire Rodrigues
Guerra-Júnior, Gil
Abstract: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.
Subject: Child
Multiple Endocrine Neoplasia Type 1
Pancreatic Neoplasms
Proto-oncogene Proteins
Citation: Arquivos Brasileiros De Endocrinologia E Metabologia. v. 54, n. 8, p. 754-60, 2010-Nov.
Rights: aberto
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_21340165.pdf1.22 MBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.