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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 [seguimento De Longo Prazo Em Um Menino De 8 Anos De Idade Com Insulinoma Como Primeira Manifestação De Neoplasia Endócrina Múltipla Tipo 1]
Author: Fabbri H.C.
de Mello M.P.
Soardi F.C.
Esquiaveto-Aun A.M.
de Oliveira D.M.
Denardi F.C.
Moura-Neto A.
Garmes H.M.
Baptista M.T.M.
de Matos P.S.
de Lemos-Marini S.H.V.
D'Souza-Li L.F.R.
Guerra-Junior G.
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. © ABE&M todos os direitos reservados.
Rights: aberto
Identifier DOI: 10.1590/S0004-27302010000800016
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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