Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous system haemangioblastomas, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, endolymphatic sac tumours, and additionally, renal and pancreatic cystadenomas and epididymal cystadenomas in men. VHL syndrome is a highly complex disease; hence, the diagnosis is often difficult. The diagnosis of any of the characteristic tumours, particularly in children, is an implicit indication for the necessity of diagnosis and genetic tests in the patient and family members and for intensive supervision of carriers of the mutated gene, thereby improving early diagnosis and successful treatment of the malignancies.

Our preliminary results confirm the not yet fully explored relation between air pollution and the risk of type 1 DM in children and adolescents.

Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in the central nervous system haemangioblastoma, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, and endolymphatic sac tumours. Additionally, renal and pancreatic cystadenomas and epididymal cystadenomas have been diagnosed in males and cystadenomas of the broad ligament of the uterus have been diagnosed in females.The following paper presents the diagnostic way in a boy with vision disorders as the first symptom. Hypertension retinopathy and extremely elevated blood pressure were observed during ophthalmologic consultation. Complications of arterial hypertension were confirmed by echocardiography, which diagnosed hypertension cardiomyopathy. Hypertension retinopathy was confirmed by optical coherence tomography. Examinations performed in the neurology, cardiology, and finally endocrinology indicated a bilateral phaeochromocytoma as the cause of arterial hypertension. Moreover, some genetic investigations showed a mutation in the VHL ex.1 p.Y112 C gene responsible for the hereditary form of phaeochromocytoma which confirmed von Hippel-Lindau syndrome. After surgical treatment of phaeochromocytoma the patient needed careful management according to the surveillance protocol for von Hippel-Lindau disease.

STRESZCZENIE/ABSTRACTPheochromocytoma jest rzadkim guzem neuroendokrynnym wywodzącym się z komórek chromochłonnych. Produkuje on głównie katecholaminy, takie jak adrenalina, noradrenalina oraz dopamina. Najbardziej charakterystycznymi objawami towarzyszącymi rozwojowi guza są nadciśnienie tętnicze, tachykardia, bóle głowy oraz nadmierna potliwość. Może być on przyczyną powikłań, takich jak retinopatia nadciśnieniowa, kardiomiopatia, zawał serca, udar, a nawet śmierć. Endokrynol. Ped. 13/2014;1(46):69-74. Pheochromocytoma is a rare neuroendocrine tumor derived from chromaffin cells.It produces catecholamines like adrenaline, noradrenaline and dopamine. The most typical symptoms are hypertension, tachycardia, headaches and sweating. It can be caused of many complication like hypertension retinopathy, cardiomiopathy, myocardial infarction, stroke or even death. Pediatr. Endocrinol. 13/2014;1(46):69-74.