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

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.

MEN1 in children and adolescents: Data from patients of a regional referral center for hereditary endocrine tumors

“…Therefore, it is very important to start screening MEN1 patients for insulinoma beginning at the age of 5 [2,3], and to educate the parents of MEN1 children to recognize clinical manifestations of insulinoma [3]. Table 3 shows two cases of children with insulinoma as the first clinical manifestation of MEN 1 [17,18] (cases 14 and 15).…”

Genetic predictors of insulin-producing pancreatic tumor

“…Инсулинома при МЭН1 диагностируется в молодом возрасте (30-35 лет, приблизительно на 10 лет раньше, чем при спорадической инсулиноме) и очень редко в детском. Необходимо отметить, что в большинстве случаев правильный диагноз устанавливается с запозданием, часто спустя несколько лет после появления первых признаков гипогликемического синдрома [4][5][6][7][8][9].…”

Familial and Hereditary Forms of Primary Hyperparathyroidism

“…Insulinomas occur more often in patients with MEN1 who are younger than 40 years, and many of them arise in individuals younger than 20 years, whereas in patients without MEN1, insulinomas generally occur in those older than 40 years. 16,36,51 Insulinomas may be the first manifestation of MEN1 in 10% of patients, and approximately 4% of patients with insulinomas will have MEN1. 4,16 Medical treatment, which consists of frequent carbohydrate meals and diazoxide or octreotide, is not always successful, and surgery is the optimal treatment.…”