Synchronous Solid Pseudopapillary Tumor and Insulinoma in an Adolescent MEN1 Patient Presenting with Diagnostic Dilemmas
| Autor: | Ferda Alparslan Pinarli, Aylin Yetim, Banu Yılmaz Özgüven, Evrim Özmen, Ahmet Uçar, Muharrem Battal, Yasin Yilmaz |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Adolescent endocrine system diseases Endocrinology Diabetes and Metabolism Case Report 030209 endocrinology & metabolism hyperinsulinism multiple endocrine neoplasia 1 insulinoma Hypoglycemia medicine.disease_cause Gastroenterology Diagnosis Differential Neoplasms Multiple Primary 03 medical and health sciences 0302 clinical medicine Endocrinology Pancreatic tumor Proto-Oncogene Proteins Internal medicine Multiple Endocrine Neoplasia Type 1 medicine Humans Outpatient clinic solid pseudopapillary tumor Multiple endocrine neoplasia Hyperinsulinemic hypoglycemia Insulinoma business.industry medicine.disease Carcinoma Papillary Pancreatic Neoplasms 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Differential diagnosis business Primary hyperparathyroidism |
| Zdroj: | Journal of Clinical Research in Pediatric Endocrinology |
| ISSN: | 1308-5727 |
| DOI: | 10.4274/jcrpe.4799 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|