Winston Karin Y, Dawrant Jonathan
J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):773-6. doi: 10.1515/jpem-2013-0353.
Multiple endocrine neoplasia type 1 (MEN1) is an inherited neoplasia syndrome that generally presents with hypercalcaemia due to hyperparathyroidism. Insulin-producing tumours are less common components of the syndrome that emerge later during the course of the disease. We report here a case of an adolescent who presented with symptomatic hypoglycaemia as the first indication of MEN1.
A 14-year-old boy, known to use illicit drugs, was brought to the hospital with altered mental status. He was hypoglycaemic and further investigations revealed two pancreatic insulinomas. Despite having no relevant family history, genetic evaluation showed a mutation consistent with MEN1.
Insulinomas in adolescents are generally rare and even less common as a first presentation of MEN1. This diagnosis carries implications for potential future neoplasms, both benign and malignant. While intoxication is a more common case of altered mental status in adolescents, clinicians must maintain a high index of suspicion for organic disease.
1型多发性内分泌肿瘤(MEN1)是一种遗传性肿瘤综合征,通常因甲状旁腺功能亢进导致高钙血症。胰岛素瘤是该综合征中较少见的组成部分,在疾病过程中较晚出现。我们在此报告一例青少年病例,该患者以症状性低血糖作为MEN1的首发表现。
一名14岁男孩,有使用非法药物史,因精神状态改变被送往医院。他出现低血糖,进一步检查发现两个胰腺胰岛素瘤。尽管没有相关家族史,但基因评估显示存在与MEN1一致的突变。
青少年胰岛素瘤通常罕见,作为MEN1的首发表现则更为少见。这一诊断对未来潜在的良性和恶性肿瘤均有影响。虽然中毒是青少年精神状态改变更常见的原因,但临床医生必须对器质性疾病保持高度怀疑。