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Suprasellar hemanjioblastomun eşlik ettiği Von Hippel Lindau hastalığı

Yıl 2014, Cilt: 24 Sayı: 1, 34 - 37, 01.01.2014

Öz

von Hippel-Lindau hastalığı; retinal, spinal ve serebellar hemanjioblastom, renal hücreli karsinom, feokromositoma, pankreatik kist ve tümörler, endolenfatik kese tümörleri gibi benign ve malign tümörlerin gelişimi ile karakterize kalıtsal bir hastalıktır. Epididimde ve broad ligamentte kistler ve papiller kistadenokarsinom oluşabilir. Radyolojik görüntüleme yöntemleri von Hippel-Lindau hasta- lığının tanısında, tedavisinde ve takibinde önemli bir yere sahiptir. Bu yazıda, multi-organ tutulumları olan 32 yaşındaki bir erkek hastada, von Hippel-Lindau hastalığının radyolojik bulgularını paylaşmak amaçlanmıştır

Kaynakça

  • Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996;33:120-7.
  • Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;77:1151-63.
  • Neumann HP, Wiestler OD. Clustering of features of von Hip- pel-Lindau syndrome: evidence for a complex genetic locus. Lan- cet 1991;337:1052-4.
  • Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lin- dau disease tumor suppressor gene. Science 1993; 260:1317–20.
  • Maher ER, Kaelin WG Jr. von Hippel-Lindau disease. Medicine 1997;76:381–91.
  • Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau dise- ase. Lancet 2003;361:2059-67.
  • Richard S, Campello C, Taillandier L, Parker F, Resche F. Haeman- gioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL Study Group. J Intern Med 1998;243:547-53.
  • Koplay M, Kantarcı M. Von Hippel Lindau Hastalığı. Türkiye Kli- nikleri Radiol-Special Topics 2009;2:33-7.
  • Von Hippel E. Ueber eine sehr seltene Erkrankung der Netzhaut. Albrecht von Graefes Arch Ophthal 1904;59:83–106.
  • Lindau A. Studien über kleinhirncysten. Bau, pathogenese und be- ziehungen zur angiomatosis retinae. Acta Pathol Microbiol Scand Suppl 1926;1:1–128.
  • Nelson JB, Oyasu R, Dalton DP. The clinical and pathological ma- nifestations of renal tumors in von Hippel-Lindau disease. J Urol 1994;152:2221-6.
  • Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett WH, 3rd. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology 1992;99:140-5.
  • Dollfus H, Massin P, Taupin P, et al. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 2002;43:3067-74.
  • Bölükbaşı N, Örs F, Uğurel Ş. Taşar M, Somuncu İ. Von Hip- pel-Lindau sendromunda izlenen kranyospinal tutulumun rad- yolojik değerlendirmesi: Tanısal ve Girişimsel Radyoloji 2001; 7:439-45.
  • Poston CD, Jaffe GS, Lubensky IA, et al. Characterization of the re- nal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J Urol 1995;153:22-6.
  • Choyke PL, Glenn GM, Walther MM, et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR Am J Roentgenol 1992;159:1229–34.
  • Walther MM, Reiter R, Keiser HR, et al. Clinical and genetic chara- cterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 1999;162:659–64
  • Neumann HP, Dinkel E, Brambs H, et al. Pancreatic lesions in the von Hippel-Lindau syndrome. Gastroenterology 1991;101: 465–71.
  • Mııkherji SK. Albernaz VS, Lo WW, et al. Papillary endolymphatic sac tumors: CT. MR imaging, and angiographic findings in 20 pa- ticnts. Radiology 1997;202:801-8.
  • Melmon KL, Rosen SW. Lindaus disease: review of the literature and study of a large kindred. Am J Med. 1964;36:595-17.

von Hippel-Lindau disease with supracerebellar hemangioblastoma

Yıl 2014, Cilt: 24 Sayı: 1, 34 - 37, 01.01.2014

Öz

von Hippel-Lindau disease is a hereditary disorder characterized by development of benign and malignant tumours such as retinal, spinal, and cerebellar haemangioblastomas, renal cell carsinomas, phaeochromocytomas, pancreatic cysts and tumors, endolymp- hatic sac tumors. Cysts and papiller cystadenocarcinoma of the broad ligament and epididiyms may also occur. Radiologic imaging methods has an important role in the diagnosis, treatment and following of von Hippel-Lindau. In this case, we aimed to present the radiologic findings of von Hippel-Lindau disease’s radiological features in a single patient 32- year-old man who had multi-organ involvements

Kaynakça

  • Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996;33:120-7.
  • Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;77:1151-63.
  • Neumann HP, Wiestler OD. Clustering of features of von Hip- pel-Lindau syndrome: evidence for a complex genetic locus. Lan- cet 1991;337:1052-4.
  • Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lin- dau disease tumor suppressor gene. Science 1993; 260:1317–20.
  • Maher ER, Kaelin WG Jr. von Hippel-Lindau disease. Medicine 1997;76:381–91.
  • Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau dise- ase. Lancet 2003;361:2059-67.
  • Richard S, Campello C, Taillandier L, Parker F, Resche F. Haeman- gioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL Study Group. J Intern Med 1998;243:547-53.
  • Koplay M, Kantarcı M. Von Hippel Lindau Hastalığı. Türkiye Kli- nikleri Radiol-Special Topics 2009;2:33-7.
  • Von Hippel E. Ueber eine sehr seltene Erkrankung der Netzhaut. Albrecht von Graefes Arch Ophthal 1904;59:83–106.
  • Lindau A. Studien über kleinhirncysten. Bau, pathogenese und be- ziehungen zur angiomatosis retinae. Acta Pathol Microbiol Scand Suppl 1926;1:1–128.
  • Nelson JB, Oyasu R, Dalton DP. The clinical and pathological ma- nifestations of renal tumors in von Hippel-Lindau disease. J Urol 1994;152:2221-6.
  • Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett WH, 3rd. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology 1992;99:140-5.
  • Dollfus H, Massin P, Taupin P, et al. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 2002;43:3067-74.
  • Bölükbaşı N, Örs F, Uğurel Ş. Taşar M, Somuncu İ. Von Hip- pel-Lindau sendromunda izlenen kranyospinal tutulumun rad- yolojik değerlendirmesi: Tanısal ve Girişimsel Radyoloji 2001; 7:439-45.
  • Poston CD, Jaffe GS, Lubensky IA, et al. Characterization of the re- nal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J Urol 1995;153:22-6.
  • Choyke PL, Glenn GM, Walther MM, et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR Am J Roentgenol 1992;159:1229–34.
  • Walther MM, Reiter R, Keiser HR, et al. Clinical and genetic chara- cterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 1999;162:659–64
  • Neumann HP, Dinkel E, Brambs H, et al. Pancreatic lesions in the von Hippel-Lindau syndrome. Gastroenterology 1991;101: 465–71.
  • Mııkherji SK. Albernaz VS, Lo WW, et al. Papillary endolymphatic sac tumors: CT. MR imaging, and angiographic findings in 20 pa- ticnts. Radiology 1997;202:801-8.
  • Melmon KL, Rosen SW. Lindaus disease: review of the literature and study of a large kindred. Am J Med. 1964;36:595-17.
Toplam 20 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Case Report
Yazarlar

Mesut Sivri Bu kişi benim

Seda Özbek Bu kişi benim

Mustafa Koplay Bu kişi benim

Alaaddin Nayman Bu kişi benim

Hasan Erdoğan Bu kişi benim

Yayımlanma Tarihi 1 Ocak 2014
Yayımlandığı Sayı Yıl 2014 Cilt: 24 Sayı: 1

Kaynak Göster

Vancouver Sivri M, Özbek S, Koplay M, Nayman A, Erdoğan H. Suprasellar hemanjioblastomun eşlik ettiği Von Hippel Lindau hastalığı. Genel Tıp Derg. 2014;24(1):34-7.