Uçar Ahmet, Özgüven Banu, Battal Muharrem, Alparslan Pınarlı Ferda, Özmen Evrim, Yetim Aylin, Yılmaz Yasin
University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey.
University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of Pathology, İstanbul, Turkey.
J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):375-379. doi: 10.4274/jcrpe.4799. Epub 2017 Jun 30.
Multiple endocrine neoplasia (MEN1) is a rare autosomal dominant disorder characterized by primary hyperparathyroidism, enteropancreatic neuroendocrine tumors, and anterior pituitary adenomas. A 16-year-old male presented to the emergency outpatient clinic with tonic convulsions. Physical examination in the postconvulsive period was unremarkable and revealed a muscular, postpubertal adolescent. Biochemical tests at admission were consistent with hyperinsulinemic hypoglycemia and remarkable for elevated levels of liver transaminases and creatine kinase. Work-up for a potential inborn error of metabolism and Doppler ultrasound for congenital portal-hepatic shunt were negative. When the patient was questioned, he reported using the anabolic steroid stanozolol to strengthen his muscles. His enzyme levels normalized after cessation of stanozolol. Hypoglycemia did not recur on diazoxide therapy. Magnetic resonance imaging showed two discrete lesions in the pancreas. Distal pancreatectomy revealed two masses 1.1 and 1.4 cm in diameter: a solid pseudopapillary tumor and an insulinoma. The patient also had asymptomatic primary hyperparathyroidism. DNA sequence analysis of the MEN1 gene in the index patient and his father and brother revealed a previously reported "pW183S" heterozygous mutation. This case further adds to the "pancreatic tumor" phenotype of MEN1 with the presence of a solid pseudopapillary tumor. This case report also confirms the need to meticulously question drug abuse in adolescents presenting to clinics with diagnostic challenges.
多发性内分泌腺瘤病1型（MEN1）是一种罕见的常染色体显性疾病，其特征为原发性甲状旁腺功能亢进、肠胰神经内分泌肿瘤和垂体前叶腺瘤。一名16岁男性因强直性惊厥就诊于急诊门诊。惊厥发作后的体格检查无异常，显示为一名青春期后肌肉发达的青少年。入院时的生化检查结果与高胰岛素血症性低血糖相符，且肝转氨酶和肌酸激酶水平升高显著。针对潜在先天性代谢缺陷的检查以及先天性门静脉-肝分流的多普勒超声检查均为阴性。当询问患者时，他报告使用合成代谢类固醇司坦唑醇来增强肌肉。停用司坦唑醇后，他的酶水平恢复正常。二氮嗪治疗后低血糖未复发。磁共振成像显示胰腺有两个离散的病变。远端胰腺切除术发现两个直径分别为1.1厘米和1.4厘米的肿块：一个实性假乳头状肿瘤和一个胰岛素瘤。该患者还患有无症状原发性甲状旁腺功能亢进。对索引患者及其父亲和兄弟的MEN1基因进行DNA序列分析，发现了一个先前报道的“pW183S”杂合突变。该病例因存在实性假乳头状肿瘤，进一步增加了MEN1的“胰腺肿瘤”表型。本病例报告还证实，对于就诊时诊断存在挑战的青少年，有必要仔细询问药物滥用情况。
