ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 9 Issue : 4 Year : 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Synchronous Solid Pseudopapillary Tumor and Insulinoma in an Adolescent MEN1 Patient Presenting with Diagnostic Dilemmas [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(4): 375-379 | DOI: 10.4274/jcrpe.4799

Synchronous Solid Pseudopapillary Tumor and Insulinoma in an Adolescent MEN1 Patient Presenting with Diagnostic Dilemmas

Ahmet Uçar1, Banu Özgüven2, Muharrem Battal3, Ferda Alparslan Pınarlı4, Evrim Özmen5, Aylin Yetim6, Yasin Yılmaz6
1University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey
2University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of Pathology, İstanbul, Turkey
3University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of General Surgery, İstanbul, Turkey
4University of Health Sciences, Ankara Dışkapı Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey
5University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, Department of Pediatric Radiology, İstanbul, Turkey
6İstanbul University İstanbul Faculty of Medicine, Department of Adolescent Medicine and Pediatrics, İstanbul, Turkey

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.

Keywords: Hypoglycemia,hyperinsulinism,adolescent,multiple endocrine neoplasia 1,insulinoma,solid pseudopapillary tumor

Ahmet Uçar, Banu Özgüven, Muharrem Battal, Ferda Alparslan Pınarlı, Evrim Özmen, Aylin Yetim, Yasin Yılmaz. Synchronous Solid Pseudopapillary Tumor and Insulinoma in an Adolescent MEN1 Patient Presenting with Diagnostic Dilemmas. J Clin Res Pediatr Endocrinol. 2017; 9(4): 375-379
Manuscript Language: English
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