Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199165
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
Humans
Insulinoma
Introns
Male
Multiple Endocrine Neoplasia Type 1
Mutation
Pancreatic Neoplasms
Pedigree
Proto-oncogene Proteins
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/21340165
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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