Hemangioblastoma cerebeloso pediátrico como manifestación de la enfermedad de von Hippel-Lindau: un caso clínico

Alberto Ramírez Espinoza; Rene Alejandro Apaza Tintaya; Nancy Lourdes Mayo Simón; Dennis Heredia Mendoza

doi:10.59594/iicqp.2023.v1n2.66

Authors

Alberto Ramírez Espinoza Departamento de Neurocirugía, Instituto Nacional de Salud del Niño San Borja, Lima, Perú. https://orcid.org/0000-0003-3530-5704
Rene Alejandro Apaza Tintaya Instituto Nacional de Ciencias Neurológicas, Lima, Perú. https://orcid.org/0009-0000-9049-9850
Nancy Lourdes Mayo Simón Servicio de Anatomía Patológica, Instituto Nacional de Salud del Niño San Borja, Lima, Perú. https://orcid.org/0000-0002-2230-9880
Dennis Heredia Mendoza Instituto Nacional de Ciencias Neurológicas, Lima, Perú. https://orcid.org/0000-0002-9313-538X

DOI:

https://doi.org/10.59594/iicqp.2023.v1n2.66

Keywords:

von Hippel-Lindau Disease, Hemangioblastoma

Abstract

von Hippel-Lindau disease is a familial neoplastic syndrome caused by genetic mutations in the vHL
tumor suppressor gene located on chromosome 3 (3p25-3p26). It is an autosomal dominant and
multiorgan disorder characterized by the formation of benign and malignant tumors and cysts in various
systems. The most common tumors in this disease are central nervous system haemangioblastomas,
which affect up to 80% of patients and can cause significant morbidity and mortality due to mass
effects on nearby structures. This study is a case report of a 12-year-old patient who was admitted for
endocranial hypertension, and magnetic resonance imaging revealed a tumor in the posterior fossa.
The patient underwent surgical treatment, and pathological examination revealed the tumor to be a
haemangioblastoma. This case illustrates an early presentation of von Hippel-Lindau disease. This rare
disease may be related to a phenomenon known as genetic anticipation

Downloads

Download data is not yet available.

References

Chittiboina P, Lonser RR. Chapter 10 - Von Hippel–Lindau disease. In: Islam MP, Roach ES, editores. Handbook of Clinical Neurology. 132. Elsevier; 2015. p. 139-56.

Molino D, Sepe J, Anastasio P, De Santo NG. The history of von Hippel-Lindau disease. J Nephrol. 2006;19 Suppl 10:S119-23.

Tsang SH, Sharma T. Von Hippel-Lindau Disease. In: Tsang SH, Sharma T, editores. Atlas of Inherited Retinal Diseases. Cham: Springer International Publishing; 2018. p. 201-3.

Aronoff L, Malkin D, van Engelen K, Gallinger B, Wasserman J, Kim RH, et al. Evidence for genetic anticipation in vonHippel-Lindau syndrome. J Med Genet. 2018;55(6):395-402. doi: 10.1136/jmedgenet-2017-104882

Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M, Bhullar JS. A Review of Von Hippel-Lindau Syndrome. J Kidney Cancer VHL. 2017;4(3):20-9. doi: 10.15586/jkcvhl.2017.88

Binderup ML, Galanakis M, Budtz-Jørgensen E, Kosteljanetz M, Luise Bisgaard M. Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark. Eur J Hum Genet. 2017;25(3):301-7. doi: 10.1038/ejhg.2016.173

Findeis-Hosey JJ, McMahon KQ, Findeis SK. Von Hippel-Lindau Disease. Journal of pediatric genetics. 2016;5(2):116-23. doi: 10.1055/s-0036-1579757

Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg. 2003;98(1):82-94. doi: 10.3171/jns.2003.98.1.0082

Wang Q, Cheng J, Zhang W, Ju Y. Spontaneous massive intracystic hemorrhage due to cystic hemangioblastoma in a pediatric patient. Br J Neurosurg. 2023;37(4):779-80. doi: 10.1080/02688697.2019.1639618

Ammerman JM, Lonser RR, Dambrosia J, Butman JA, Oldfield EH. Long-term natural history of hemangioblastomas in patients with von Hippel-Lindau disease: implications for treatment. J Neurosurg. 2006;105(2):248-55. doi: 10.3171/jns.2006.105.2.248

Cheng J, Liu W, Hui X, Zhang S, Ju Y. Pediatric central nervous system hemangioblastomas: different from adult forms? A retrospective series of 25 cases. Acta Neurochir (Wien). 2017;159(9):1603-11. doi: 10.1007/s00701-017-3275-0

Klingler JH, Gläsker S, Bausch B, Urbach H, Krauss T, Jilg CA, et al. Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment. Childs Nerv Syst. 2020 Oct;36(10):2537-52. doi: 10.1007/s00381-020-04712-5

Sun L, Liu H, Li W, Jiang L, Tian C, Wang X, et al. CT and MRI Features of a Solid Hemangioblastoma of Cerebellar Vermis in a Child: A Case Report. J Pediatr Neuroradiol. 2015;04(01):019-24. doi: 10.1055/s0035-1564662

Vougioukas VI, Gläsker S, Hubbe U, Berlis A, Omran H, Neumann HP, Van Velthoven V. Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients. Childs Nerv Syst. 2006;22(9):1149-53. doi: 10.1007/s00381-005-0018-y

Sun Z, Yuan D, Sun Y, Yan P, Zuo H. Surgical resection of cerebellar hemangioblastoma with enhanced wall thickness: A report of two cases. Oncol Lett. 2015;9(4):1597-1599. doi: 10.3892/ol.2015.2951

Wang Q, Meng S, Cheng J, Zhang S, Ju Y, Fang Y, et al. Central nervous system hemangioblastomas: An age-stratified analysis. Clin Neurol Neurosurg. 2020;199:106281. doi: 10.1016/j.clineuro.2020.106281

Yang B, Li Z, Wang Y, Zhang C, Zhang Z, Zhang X. Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review. Front Oncol. 2021;11:683021. doi: 10.3389/fonc.2021.683021