[Cystic hemangioblastoma of the junction of the medulla and upper spinal cord associated to von Hippel-Lindau disease. Two case reports and a review of the literature].
BACKGROUND
Hemangioblastomas are very highly vascularised benign tumours that can present either sporadically or in association with von Hippel-Lindau syndrome in 20% of cases. Only 5-20% of hemangioblastomas are located in the brainstem, and those that occur at the junction of the medulla and upper spinal cord are the ones that are less commonly diagnosed.


METHODS
Two young patients were diagnosed with von Hippel-Lindau disease after beginning with a cystic hemangioblastoma at the junction of the medulla and upper spinal cord as the first pathological manifestation. Both of them underwent a suboccipital craniotomy and the two lesions were completely removed without any kind of post-operative neurological deficits. One of the patients required a reintervention some years later due to a new recurrence of a symptomatic hemangioblastoma in the dorsal medulla. The genetic study conducted in both patients confirmed the presence of a mutation in the VHL gene, which is responsible for the syndrome they were suffering from.


CONCLUSIONS
The presence of cystic hemangioblastomas of the junction of the medulla and upper spinal cord associated to von Hippel-Lindau disease is very rare. Despite the technical difficulties involved in removing them, the incorporation of the latest neuroimaging and microsurgery techniques has made it possible to significantly reduce the morbidity and mortality rate associated to the surgical treatment of such patients.
Navas-García
M
M
Hospital Universitario de la Princesa, Madrid, Espana. m_navas_garcia@hotmail.com
Pedrosa-Sánchez
M
M
Carrasco-Moro
R
R
Pascual-Garvi
J M
JM
Sola
R G
RG
D000328:Adult; D003560:Cysts / Q000473:pathology*; D005260:Female; D018325:Hemangioblastoma / Q000473:pathology / Q000601:surgery; D006801:Humans; D008297:Male; D008526:Medulla Oblongata / Q000473:pathology / Q000601:surgery; D012196:Review Literature as Topic; D013116:Spinal Cord / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000601:surgery*