Produção Nacional
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
2010; Editora da Universidade de São Paulo; Volume: 54; Issue: 8 Linguagem: Inglês
10.1590/s0004-27302010000800016
ISSN1677-9487
AutoresHelena Fabbri‐Scallet, Maricilda Palandi de Mello, Fernanda Caroline Soardi, Adriana Mangue Esquiaveto‐Aun, Daniel Minutti de Oliveira, Fernanda Canova Denardi, Arnaldo Moura Neto, Heraldo Mendes Garmes, Maria Tereza Matias Baptista, Patrícia Matos, Sofia Helena Valente de Lemos‐Marini, Lilia Freire Rodrigues D’Souza-Li, Gil Guerra‐Júnior,
Tópico(s)Neuroblastoma Research and Treatments
ResumoMultiple 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.
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