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O termo “hemangioblastoma”, originalmente introduzido por Cushing & Bailey em 1928, descreve uma neoplasia benigna altamente vascularizada e de crescimento lento que acomete tipicamente o sistema nervoso central. Também conhecidos como “hemangioblastomas capilares”, estes tumores respondem por cerca de 1-2,5% de todos os tumores intracranianos e por aproximadamente 2-3% de todas as neoplasias intramedulares. Embora possam ocorrer em qualquer área do sistema nervoso central e, excecionalmente, também fora dele, o cerebelo é, de longe, o local de eleição para a sua localização.
Em cerca de 70-80% dos casos, os hemangioblastomas surgem como lesões isoladas esporádicas. Os restantes casos estão associados à doença de von Hippel-Lindau, uma doença hereditária de transmissão autossómica dominante caracterizada pela predisposição à ocorrência de hemangioblastomas múltiplos e de outras lesões viscerais, as quais se desenvolvem ao longo da vida exigindo, por isso, vigilância contínua. Considerados essencialmente tumores de adultos, apresentam picos de incidência na terceira e quinta décadas de vida refletindo, respetivamente, as idades de diagnóstico dos casos associados à doença de von Hippel-Lindau e dos casos esporádicos.
Apesar do seu comportamento de crescimento benigno, estes tumores podem tornar-se importantes causas de morbilidade e de mortalidade, com a sintomatologia específica a depender essencialmente da localização anatómica e do padrão de crescimento.
Embora consideradas neoplasias raras, é importante considerar sempre os hemangioblastomas no diagnóstico diferencial dos casos que apresentam clínica e radiologia compatível. O diagnóstico erróneo ou tardio pode levar ao uso de terapêuticas desnecessárias e, eventualmente, prejudiciais e/ou estigmatizantes para o doente bem como ao surgimento de complicações potencialmente evitáveis se manuseados correta e atempadamente. O caso clínico apresentado neste trabalho, referente a hemangioblastoma cerebeloso, ilustra bem as dificuldades diagnósticas que muitas vezes surgem associadas a este tipo de neoplasias.
O tratamento padrão consiste na excisão cirúrgica dos tumores sintomáticos quando os benefícios potenciais do procedimento superam o risco cirúrgico. Após a resseção cirúrgica, os indivíduos apresentam um prognóstico muito bom, embora possam ocorrer taxas de recorrência de até 27%, sendo necessário um acompanhamento posterior do doente, cuja duração depende de múltiplos fatores.
The term "hemangioblastoma", originally introduced by Cushing & Bailey in 1928, describes a benign neoplasm which is highly vascularized and has a slow growing rate, typically affecting the central nervous system. These tumors, also known as “capillary hemangioblastomas”, correspond to about 1-2,5% of all intracranial tumors and approximately 2-3% of all intramedullary neoplasms. Although they can occur in any area of the central nervous system and, exceptionally, outside it, their predominant localization is, by far, the cerebellum. At about 70-80% of the cases, hemangioblastomas appear as isolated sporadic lesions. The remaining cases are related with von Hippel-Lindau disease, an inherited autosomal dominant disorder characterized by the predisposition to the occurrence of multiple hemangioblastomas and other visceral lesions, which develop throughout life, thus being necessary to continuously monitor the patient. These tumors are considered essentially adult's tumors, having incidence peaks in the third and fifth decades of life reflecting, respectively, the diagnosis ages of cases associated with von Hippel-Lindau disease and sporadic cases. Despite its benign growth behavior, these tumors may become important causes of morbidity and mortality, with specific symptomatology critically depend on the anatomical location and growth pattern. Although these are rare neoplasms, it's important to always consider hemangioblastomas in differential diagnosis of cases with compatible clinical and radiological findings. A wrong or late diagnosis may lead to unnecessary use of therapeutic solutions which are, eventually, harmful and/or stigmatizing for the patient, as well as the emergence of potentially avoidable complications if handled correctly and timely. The clinical case presented in this work, refers to a cerebellar hemangioblastoma, illustrating the difficulties in the diagnosis of such neoplasm. The standard treatment consists in chirurgical excision of the symptomatic tumors when the potential benefices of the procedure outweigh the risks. After the surgical resection, individuals have a very good prognosis, although there can be recurrence rates up to 27%. So, a subsequent patient follow-up is necessary, the duration of which depends on several factors.
The term "hemangioblastoma", originally introduced by Cushing & Bailey in 1928, describes a benign neoplasm which is highly vascularized and has a slow growing rate, typically affecting the central nervous system. These tumors, also known as “capillary hemangioblastomas”, correspond to about 1-2,5% of all intracranial tumors and approximately 2-3% of all intramedullary neoplasms. Although they can occur in any area of the central nervous system and, exceptionally, outside it, their predominant localization is, by far, the cerebellum. At about 70-80% of the cases, hemangioblastomas appear as isolated sporadic lesions. The remaining cases are related with von Hippel-Lindau disease, an inherited autosomal dominant disorder characterized by the predisposition to the occurrence of multiple hemangioblastomas and other visceral lesions, which develop throughout life, thus being necessary to continuously monitor the patient. These tumors are considered essentially adult's tumors, having incidence peaks in the third and fifth decades of life reflecting, respectively, the diagnosis ages of cases associated with von Hippel-Lindau disease and sporadic cases. Despite its benign growth behavior, these tumors may become important causes of morbidity and mortality, with specific symptomatology critically depend on the anatomical location and growth pattern. Although these are rare neoplasms, it's important to always consider hemangioblastomas in differential diagnosis of cases with compatible clinical and radiological findings. A wrong or late diagnosis may lead to unnecessary use of therapeutic solutions which are, eventually, harmful and/or stigmatizing for the patient, as well as the emergence of potentially avoidable complications if handled correctly and timely. The clinical case presented in this work, refers to a cerebellar hemangioblastoma, illustrating the difficulties in the diagnosis of such neoplasm. The standard treatment consists in chirurgical excision of the symptomatic tumors when the potential benefices of the procedure outweigh the risks. After the surgical resection, individuals have a very good prognosis, although there can be recurrence rates up to 27%. So, a subsequent patient follow-up is necessary, the duration of which depends on several factors.
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Keywords
Doença de Von Hippel-Lindau Hemangioblastoma Hemangioblastoma Capilar Hemangioblastoma Esporádico Neoplasia Benigna do Sistema Nervoso Central