Surgical management of complicated retinal detachment in a case of retinal hemangioblastoma

Background: A 40-year-old male presented with a complaint of sudden onset diminution of vision in the left eye for 2 weeks. He was a follow-up case with retinal hemangioblastoma in both eyes. He underwent two sittings of fundus fluorescein angiography-guided trans-pupillary thermotherapy 2 years back. Since then, he was regularly followed up for 2 years with stable vision and stable retinal findings. At present, the best-corrected visual acuity (BCVA) in the right eye is 6/6, and in the left eye, it is counting fingers 2 meters. On fundus examination, he had one active hemangioblastoma in the right eye and total retinal detachment in the left eye with multiple active lesions. The right eye was treated with a single sitting of thermotherapy, and the left eye underwent pars plana vitrectomy and angioma excision, followed by silicone oil tamponade. The immediate and late post?operative periods were uneventful, with successful anatomical and functional outcomes. The left eye BCVA on late follow-up was 6/36, no further treatment was advised, and the patient was kept under follow-up and observed closely. Purpose: To educate regarding the systemic workup, diagnosis, and surgical management of complicated retinal detachment in retinal hemangioblastoma. Synopsis: Systemic workup, diagnosis, and surgical steps in the management of complicated retinal detachment in retinal hemangioblastoma were performed. Highlights: Close follow-up, keen observation, and prompt treatment in the early stages of the disease are indispensable to prevent untoward sequelae of retinal hemangioblastoma. A thorough systemic workup is necessary to diagnose the systemic involvements early. Surgery, if indicated for the retinal hemangioblastoma or its associated sequelae, should be performed diligently and with careful handling of blood vessels and anomalous tissues.

Manifestações de imagem da doença de von Hippel-Lindau: um guia ilustrado com foco no sistema nervoso central / Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on the central nervous system

Abstract A doença de von Hippel-Lindau (VHL) é uma síndrome hereditária autossômica dominante rara que afeta a linha germinativa do gene VHL, um gene supressor tumoral. A doença de VHL é caracterizada pelo desenvolvimento multissistêmico de uma variedade de tumores benignos e malignos, especialmente no sistema nervoso central (SNC). Dentre eles, destacam-se hemangioblastomas retinianos e do SNC, e o tumor do saco endolinfático. Os diferentes locais dos tumores justificam a diversidade de sinais e sintomas relacionados à doença, que usualmente se manifestam com a idade média de 33 anos. Apesar dos avanços da medicina, a expectativa de vida média desses pacientes é de 49 anos. Exames de imagem têm papel fundamental no diagnóstico e são essenciais no seguimento dos pacientes com doença de VHL. Este ensaio iconográfico descreve as manifestações características dos tumores do SNC relacionados à doença de VHL que todos os residentes de radiologia devem saber.

Abstract Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant inherited syndrome that affects the germline of the VHL gene, a tumor suppressor gene. VHL disease is characterized by the multisystemic development of a variety of benign and malignant tumors, especially in the central nervous system (CNS). Such tumors include retinal and CNS hemangioblastomas, as well as endolymphatic sac tumors. The various tumor sites are responsible for the diversity of signs and symptoms related to the disease. The mean age at symptom onset is 33 years. Despite medical advances, the average life expectancy of patients with VHL disease is 49 years. Imaging plays a pivotal role in the clinical diagnosis and is essential to the follow-up of patients with VHL disease. This pictorial essay describes characteristic CNS manifestations of VHL disease-related tumors that all radiology residents should be aware of.

Progress in Multidisciplinary Diagnosis and Treatment of Familial Brain Tumors / 肿瘤防治研究

The tumors of central nervous system refer to a group of benign and malignant diseases originating from tissues or structures within the central nervous system. Common tumors of central nervous system are sporadic, but a few have familial onset. Compared with sporadic brain tumors, the clinical symptoms, diagnostic ideas and follow-up review plans of familial brain tumors are more complicated. The multidisciplinary diagnosis and treatment (MDT) mode usually refers to a treatment mode in which a case involving multiple organs and systems is discussed, and the best treatment plan is formulated for the patient based on the comprehensive opinions of various disciplines. Because familial brain tumors often involve multiple organs, multiple disciplines and multiple systems, and their low incidence leads to less clinical experience for neurosurgeons, the MDT model is more conducive to efficient diagnosis, treatment and management of familial brain tumors. This review elaborates on the neurosurgeon-led MDT model, and introduces the latest research on the epidemiology, genetic characteristics, clinical manifestations, diagnostic ideas and multidisciplinary management of familial brain tumors.

Co-Occurrence of Pineal-Region and Pituitary-Stalk Hemangioblastomas in a Patient Presenting with Von Hippel-Lindau Disease ­ A Case Report

Introduction Hemangioblastomas of the pineal region or pituitary stalk are extremely rare. Only two cases of hemangioblastomas involving the pineal region have been reported, and four involving the pituitary stalk. The purpose of the present manuscript is to describe an unusual case of supposed hemangioblastoma found concomitantly in the pineal region and pituitary stalk of a patient diagnosed with Von Hippel-Lindau (VHL) disease. Case Report A 35-year-old female patient with a previous diagnosis of VHL complaining of occipital headaches and balance disturbances for three weeks, who previously had a cerebellar hemangioblastoma resected. The visual characteristics of the tumor suggested a friable vascular lesion with a reddish-brown surface, and an incisional biopsy was performed. The tumor consisted of a dense vascular network surrounded by fibrous stroma abundant in reticulin and composed by both fusiform and dispersed xanthomatous cells; the immunohistochemistry was immunopositive for neuronspecific enolase and immunonegative for epithelial membranous antigen. The patient has been monitored closely for 2 years, and the supratentorial masses have not presented any volume alteration. Conclusion This rare association must be taken into account in patients with VHL disease, or at least be suspected in patients who present a thickening of the pituitary stalk and a pineal-region mass. We believe a biopsy of our asymptomatic patient could have been dangerous due to inherent complications like intraoperative bleeding. We recommend close observation of asymptomatic lesions with MRIs every six months or until the lesions become symptomatic. If the pineal-region tumor does become symptomatic, gross resection via a transcallosal approach would be ideal.

Thermography in clinical ophthalmic oncology / Termografia em oncologia oftalmológica clínica

ABSTRACT Purpose: The aim of this study was to present our own experience with the use of thermography as a complementary method for the initial diagnosis and differentiation of intraocular tumors, as well as for the evaluation of the efficacy of treatment of intraocular melanomas. Methods: The study group comprised 37 patients with intraocular tumors, including 9 with uveal melanoma, 8 with uveal melanoma after I125 brachytherapy, 12 with a focal metastasis to the uvea, and 8 with retinal capillary hemangioblastoma. A FLIR T640 camera was used to capture images in the central point of the cornea, eye area, and orbital cavity area. Results: Eyes with uveal melanoma had higher temperature compared with the fellow normal eye of the patient in the range of all measured parameters in the regions of interest. In the group of patients with melanoma after unsuccessful brachytherapy, higher temperature was observed at the central point of the cornea. In patients with tumor regression, all measured parameters were lower in the affected eye. We observed lower tempe­ratures in the range of all tested parameters and areas in eyes with choroidal metastases. Eyes with diagnosed intraocular hemangioblastoma were characterized by higher parameters for the regions of interest versus eyes without this pathology. Conclusions: A thermographic examination of the eye can be used as an additional first-line diagnostic tool for the differentiation of intraocular tumors. Thermography can be a helpful tool in monitoring the treatment outcome in patients with intraocular melanoma.

RESUMO Objetivo: O objetivo deste estudo foi de apresentar a nossa experiência no uso da termografia como método complementar para o diagnóstico inicial e a diferenciação de tumores intraoculares, bem como para a avaliação da eficácia do tratamento de melanomas intraoculares. Métodos: O grupo estudado compunha-se de 37 pacientes com tumores intraoculares, sendo 9 com melanoma uveal, 8 com melanoma uveal após braquiterapia com I125, 12 com metástases focais na úvea e 8 com hemangioblastoma capilar retiniano. As imagens do ponto central da córnea, da área do olho e da área da cavidade orbital foram obtidas com uma câmera FLIR T640. Resultados: Os olhos dos pacientes com melanoma uveal tinham temperaturas mais elevadas do que as dos olhos normais dos mesmos, em toda a faixa dos parâmetros medidos nas regiões de interesse. No grupo de pacientes com melanoma após braquiterapia mal sucedida, encontrámos temperaturas maiores no ponto central da córnea. Nos pacientes com regressão do tumor, todos os parâmetros medidos foram menores no olho acometido. Encontrámos temperaturas mais baixas em toda a faixa dos parâmetros testados e das áreas medidas nos olhos com metástases na coroide. Os olhos com hemangioblastoma intraocular diagnosticado caracterizaram-se por parâmetros mais elevados nas regiões de interesse, em comparação com olhos sem essa patologia. Conclusões: O exame termográfico do olho pode usar-se como ferramenta de diagnóstico adicional de triagem na diferenciação de tumores intraoculares. A termografia pode ser uma ferramenta útil no acompanhamento do des­fe­cho do tratamento em pacientes com melanoma intraocular.

Differential diagnosis of cerebellum cystic-solid hemangioblastoma and pilocytic astrocytoma according to MRI enhancement degree / 中国介入影像与治疗学

Objective: To investigate the value of MRI enhancement degree in differential diagnosis of cerebellum cystic-solid hemangioblastoma and pilocytic astrocytoma. Methods: MRI data of 30 patients with cerebellum cystic-solid hemangioblastoma and 30 patients with cerebellum cystic-solid pilocytic astrocytoma confirmed by operation and pathology were retrospectively analyzed. The enhancement value of the solid component of the lesion was calculated, then ROC curve was drawn, and the diagnostic effect of the solid component enhancement level was evaluated. Results: Among 30 cases of cerebellum cystic-solid hemangioblastoma, cystic nodules were in 15 cases, while solid masses with cystic changes were observed in other 15 cases, and the parenchyma part was uniformly strengthened. Among 30 cases of cerebellum cystic-solid pilocytic astrocytoma, cystic nodules were detected in 11 cases, where as solid masses with cystic changes were noticed in 19 cases, 21 cases had uniform enhancement of parenchyma and 9 cases showeduneven enhancement. The parenchyma enhancement degree of cerebellum cystic-solid hemangioblastoma was 4.20 (3.28,4.84), of cerebellum cystic-solid pilocytic astrocytoma was 1.95 (1.49,2.43) (F=72.69,P<0.01). The specificity and sensitivity of diagnosis of cerebellum cystic-solid hemangioblastoma was 88.9% and 92.9%, respectively. Taken the enhancement amplitude 2.58 as the threshold, the AUC was 0.95. Conclusion: The degree of MRI enhancement of solid tumor components is helpful to distinguishing cerebellum cystic-solid hemangioblastoma and pilocytic astrocytoma.

Diagnóstico diferencial de las lesiones del IV ventrículo / Differential Diagnosis of Fourth Ventricular Lesions

La población pediátrica es, de lejos, la más afectada por las lesiones del cuarto (IV) ventrículo. La gran mayoría presentan un patrón radiológico similar; actualmente, con las secuencias de difusión, espectroscopia y mapas de ADC, se puede inferir la compatibilidad de los hallazgos visualizados con alguna de las patologías que se revisarán en el presente trabajo

The pediatric population is by far the most affected by lesions of the fourth (IV) ventricle. The vast majority present a similar radiological pattern, for which today, with the diffusion sequences, spectroscopy and ADC maps, it can be inferred that the visualized findings are more likely compatible with some of the pathologies that we will review later

Insights into retinal hemangioblastoma using ultra widefield imaging

Purpose: Retinal hemangioblastomas (RHs) are characteristic of von Hippel-Lindau (VHL) disease. Early diagnosis of retinal lesions may aid in systemic diagnosis. Early identification of VHL is life-saving and also prevents vision loss. Fundus fluorescein angiography (FFA) is a useful tool in the diagnosis and management of RHs. The aim of this study is to report FFA features of RH using ultra-widefield (UWF) imaging. Methods: A retrospective cross-sectional study of consecutive patients of RH who underwent UWF FFA at a tertiary eye care center. Images were analyzed and assessed by authors. The main outcome measures were (a) the number and size of RH in each eye and (b) vascular characteristics of the retina. UWF-FFA characteristics in each eye were tabulated. The number of clock hours involved by these characteristics and their correlation with the number and size of RH were analyzed. Results: The study evaluated 24 eyes of 13 patients. The mean age was 28.4 years. The median number of RHs in an eye was 3.5 (range 1�16), and the size of RHs varied from 0.1 to 4 disc diameters. Novel UWF-FFA findings noted in this study were the presence of abnormal capillary network in 22 of 24 eyes (91.7%), capillary leakage in 15 of 24 eyes (62.5%), and capillary telangiectasia in 7 of 24 eyes (29.2%). In addition, feeder arterioles and venules showed bulbous projections in 8 of 24 eyes (33.3%). Conclusion: The UWF-FFA characteristics of RH, which have not been described before, were identified. These add to our understanding of the pathogenesis of the disease and may pave the way for future therapeutic targets.

Optical coherence tomography angiography in assessment of response to therapy in retinal capillary hemangioblastoma and diffuse choroidal hemangioma

In this series, we discuss the role of optical coherence tomography angiography (OCTA) in assessing response to treatment in intraocular vascular tumors. This is a series of two cases: Multiple retinal capillary hemangioblastoma (RCH) treated with laser photocoagulation and diffuse choroidal hemangioma (DCH) with radiotherapy. In large RCH and DCH, optical coherence tomography (OCT) showed significant reduction of subretinal and intraretinal fluid. But post-treatment mean tumor vascular density (MTVD) was slightly reduced. In one small RCH, vascular loop was seen suggesting minimal residual disease. So, OCTA helps in identifying treatment inadequacy and understanding alternate mechanism involved in treatment response in vascular tumors.

Embolización preoperatoria con Onyx en tumores cuya irrigación principal proviene de la arteria cerebelosa superior. Reporte de dos casos y revisión de la literatura / Preoperative embolization with Onyx in tumors whose main supply comes from the superior cerebellar artery. Report of two cases and review of the literature

Introducción : Los hemangioblastomas y los meningiomas son neoplasias intracraneales frecuentes en las cuales la resección quirúrgica total es el tratamiento indicado. En algunas situaciones, son lesiones altamente vascularizadas, por lo cual es de utilidad la embolización preoperatoria. Descripción de los casos : Caso 1: paciente mujer de 42 años de edad, que consultó por cuadro de hipertensión endocraneana y ataxia de tipo cerebeloso. Se realizó resonancia magnética, la cual mostró un proceso expansivo en la parte superior del vermis cerebeloso. La angiografía cerebral demostró un tumor muy vascularizado, a expensas de la arteria cerebelosa superior. Previo a la cirugía se realizó una embolización con Onyx. Dos días después del procedimiento endovascular, se realizó la exéresis completa del tumor. La anatomía patológica informó hemangioblastoma. Caso 2: paciente mujer de 34 años de edad, que consultó por cuadro de cefalea intensa. La resonancia magnética mostró un tumor tentorial izquierdo, con crecimiento hacia arriba. Se realizó angiografía cerebral, la cual mostró que la irrigación principal del tumor provenía de la arteria cerebelosa superior. Se realizó una embolización preoperatoria del tumor con Onyx. Tres días después del tratamiento endovascular, se realizó la exéresis completa de la lesión. La anatomía patológica informó meningioma transicional. Discusión: La recomendación de embolización preoperatoria sería en pacientes con hemangioblastomas sólidos, de gran tamaño, irrigados por vasos que no puedan ser manipulados inmediatamente durante la resección. Algo similar sucede con los meningiomas. Sin embargo, es necesario evaluar caso por caso, ya que la embolización per se implica un riesgo para el paciente. Conclusión: Cuando es necesario, se puede realizar en forma segura y efectiva la embolización con Onyx a través de la arteria cerebelosa superior, de un tumor cuya irrigación principal está dada por dicha arteria y su acceso en una etapa temprana de la cirugía es difícil.

Introduction: Hemangioblastomas and meningiomas are frequent intracranial neoplasms in which gross total resection is the indicated treatment. In some situations, they are highly vascularized lesions, and preoperative embolization is useful. Description of the cases : Case 1: a 42-year-old female patient who consulted due to intracranial hypertension and cerebellar ataxia. Magnetic resonance imaging was performed, which showed an expansive process in the upper part of the cerebellar vermis. Cerebral angiography showed a highly vascularized tumor, at the expense of the superior cerebellar artery. Prior to surgery, Onyx embolization was performed. Two days after the endovascular procedure, gross total resection of the tumor was performed. The pathology reported hemangioblastoma. Case 2: a 34-year-old female patient who consulted due to severe headache. Magnetic resonance imaging showed a left tentorial tumor, with upward growth. Cerebral angiography was performed, which showed that the main irrigation of the tumor came from the superior cerebellar artery. A preoperative embolization of the tumor with Onyx was performed. Three days after endovascular treatment, gross total resection of the tumor was performed. The pathology reported transitional meningioma. Discussion : The recommendation of preoperative embolization would be in patients with solid hemangioblastomas, irrigated by vessels that cannot be manipulated immediately during resection. Something similar happens with meningiomas. However, it is necessary to evaluate case by case, since embolization per se implies a risk for the patient. Conclusion : When necessary, embolization with Onyx, through the superior cerebellar artery, of a tumor whose main irrigation is given by that artery and tis access at an early stage of surgery is difficult, can be performed safely and effectively.

A Case of Sporadic Suprasellar Hemangioblastoma Mimicking Meningioma

Hemangioblastoma (HBL) in the suprasellar region is very rare and a few cases have been reported. Suprasellar HBL without von Hippel-Lindau disease is much rarer. A 76-year old male patient presented progressively deteriorating visual disturbance. MRI demonstrated solid suprasellar mass of 20 mm in diameter, broadly based to planum sphenoidale and diaphragm sella and dural tail sign after the administration of gadolinium diethylene triamine penta-acetic acid (Gd-DTPA). Preoperative diagnosis was meningioma. Total resection of the tumor was not accomplished because of massive hemorrhage, and the histopathologic examination revealed the tumor to be HBL. The visual disturbance of the patient was not improved. The authors reviewed the literature and considered a differential diagnosis of suprasellar tumors and treatment of suprasellar HBL.

One case report on VHL disease with multiple cysts of the pancreas as the main symptom / 中华内分泌外科杂志

Von Hippel-Lindau (VHL) disease is a benign or malignant tumor syndrome which involves multiple systems and organs.Recently,a patient was diagnosed and hospitalized with an initial clinical symptom of pancreatic multiple cystic space-occupying.Multidisciplinary examination and consultation confirmed that there were hemangioblastomas in cerebella,spinal cord and retina,but with no clinical symptoms;therefore,it was diagnosed as VHL disease.According to previous case reports,only a few single cases revealed lesions in so many parts of the central nervous system with typical imaging manifestations.We present an overview and aim to improve the diagnosis of VHL disease with the initial clinical symptom of pancreatic lesions.

Value of Diffusion-weighted Imaging and Apparent Diffusion Coefficient in the Differential Diagnosis of Posterior Fossa Solid Hemangioblastoma / 中国医学科学院学报

To investigate the value of diffusion-weighted imaging(DWI)and apparent diffusion coefficient(ADC)in the diagnosis and differential diagnosis of posterior fossa solid hemangioblastoma(PFSH). We retrospectively analyzed the clinical data of 15 PFSH patients and 58 patients with other hypervascular tumors in the posterior fossa(the latter included 23 cases of meningioma,5 cases of medulloblastoma,8 cases of acoustic neuroma,4 cases of hemangiopericytoma,5 cases of lymphoma,9 cases of metastatic tumor,3 cases of astrocytoma,and 1 case of choroid plexus papilloma)confirmed by operation and pathology.All patients underwent axial DWI scans,and the mean ADC value of solid part of the tumors and the adjacent normal cerebellar white matter were measured,and then the normalized ADC was calculated.In addition, test was used to compare the differences in mean ADC and normalized ADC between these two groups,and receiver operating characteristic(ROC)curve was applied to analyze the diagnostic performance of normalized ADC. Of all the 15 PFSH patients,DWI appeared hypointense in 12 patients and isointense in 3 patients;the signals on ADC maps were isointense or hyperintense;the mean ADC value of PFSHs was(1.881±0.445)×10 mm /s and the normalized ADC was 2.70±0.62.In contrast,in 58 patients with other tumors in the posterior fossa,DWI appeared hyperintense in 51 cases,isointense in 3 cases,and hypointense in 4 cases;the mean ADC value was(0.771±0.202)×10 mm /s,and the normalized ADC was 1.17±0.33.Thus,the ADC value and normalized ADC value were significantly higher in PFSH than in other tumors in the posterior fossa(=9.419,<0.001;=9.184,<0.001).The cut-off value of the normalized ADC for the diagnosis of solid hemangioblastoma was 1.89,with the sensitivity and specificity being 100%and 96.6%respectively,and the area under the ROC curve was 0.989. ADC and normalized ADC are valuable in the differential diagnosis of PFSH from other tumors with abundant blood supply.

Extradural spinal cord hemangioblastoma: a case report and literature review / Hemangioblastoma extradural medular: relato de caso e revisão de literatura / Hemangioblastoma extradural de la médula espinal: informe de un caso y revisión de la literatura

ABSTRACT Objective: Hemangioblastoma is a rare vascular sporadically occurring CNS tumor that can be associated with von Hippel-Lindau disease. Hemangioblastomas account for 2-6% of all spinal cord neoplasms and rank third among intramedullary space-occupying lesions. Methods: This was the first time in our practice that we had dealt with paravertebral hemangioblastoma with the sandglass growth pattern. The world literature describes only 3 case of a tumor with this growth pattern. Surgical and diagnostic aspects of patient treatment are considered. Results: During the operation, we adhered to the following stages: localization of the feeding vessel and of the poles of the tumor, surface dissection of the tumor, en bloc resection of the tumor, and hemostasis of the tumor cavity. Conclusions: Hemangioblastoma of extradural localization is a very rare pathology. However, when MRI signs characteristic of a vascular lesion are identified, it is necessary to carry out additional examinations, which may include CT perfusion study and, if required, selective angiography. Level of Evidence 5; Case report.

RESUMO Objetivos: Hemangioblastoma é um tumor vascular raro do SNC, que ocorre esporadicamente e pode ser associada à doença de Von Hippel-Lindau. Hemangioblastomas são responsáveis por 2-6% de todas as neoplasias da medula espinal e na terceira posição entre lesões, ocupando espaço intramedulares da medula espinal. Métodos: Foi a primeira vez em nossa prática que lidamos com hemangioblastoma paravertebral com o padrão de crescimento ampulheta. As fontes da literatura mundial descrevem apenas 3 casos de um tumor com esse padrão de crescimento. Aspectos cirúrgicos e diagnósticos de tratamentos do paciente são considerados. Resultados: Durante a operação, aderiu-se às seguintes fases: o recipiente de alimentação foi encontrado, os pólos do tumor foram encontrados, a dissecação da superfície do tumor foi feita, o tumor foi removido por um único bloco e a hemostasia da cavidade do tumor foi realizada. Conclusões: Hemangioblastoma de localização extradural é uma patologia muito rara, no entanto, quando sinais de MRI característicos de uma lesão vascular são identificados, o que é necessário para levar a cabo um exame suplementar, o qual pode incluir o estudo de perfusão CT e, se necessário, angiografia seletiva. Nível de Evidência V; Relato de caso.

RESUMEN Objetivo: El hemangioblastoma es un tumor vascular raro del SNC que ocurre esporádicamente y que puede asociarse con la enfermedad de von Hippel-Lindau. Los hemangioblastomas representan el 2%-6% de todas las neoplasias de la médula espinal y están en el tercer lugar entre las lesiones intramedulares que ocupan espacio. Métodos: Esta fue la primera vez en nuestra práctica que tratamos el hemangioblastoma paravertebral con patrón de crecimiento de reloj de arena. La literatura mundial describe solo tres casos de un tumor con este patrón de crecimiento. Se consideran aspectos quirúrgicos y de diagnóstico del tratamiento del paciente. Resultados: Durante la operación, elegimos las siguientes etapas: localización del vaso de irrigación y de los polos del tumor, disección superficial del tumor resección en bloque del tumor y hemostasia de la cavidad tumoral. Conclusiones: El hemangioblastoma de localización extradural es una patología muy rara. Sin embargo, cuando se identifican signos característicos de lesión vascular en la RM, es necesario realizar exámenes adicionales, que pueden incluir estudio de perfusión por TC y, si es necesario, una angiografía selectiva. Nivel de Evidencia V; Reporte de caso.

Comparison of optical coherence tomography angiography and fundus fluorescein angiography features of retinal capillary hemangioblastoma

The aim of this study is to compare the optical coherence tomography angiography (OCTA) and fundus fluorescein angiography (FFA) features of retinal capillary hemangioblastoma (RCH). This is an observational case series of three patients with von Hippel朙indau (VHL) disease and one patient with juxtapapillary RCH. All patients underwent FFA with a mydriatic fundus camera and OCTA with swept-source angio OCT. The FFA and OCTA characteristics of tumors were compared. In our series, FFA could identify tumors as small as the width of a third-order retinal artery, which was missed on clinical examination. OCTA identified these tiny tumors, but only those closer to the posterior pole. Both FFA and OCTA could identify the intrinsic vasculature and feeder vessel in juxtapapillary RCH. On OCTA, the tumors were better defined than in FFA. The depth of the lesion can be identified on OCTA. Feeder and the draining vessels could be identified precisely in OCTA than FFA, particularly in small tumors. OCTA can identify tumors in VHL missed on clinical examination. It can identify the feeder vessel and intrinsic vasculature of sessile juxtapapillary RCH and aids in its diagnosis. Tumors are better defined in OCTA than FFA due to the absence of leakage. However, FFA can identify nearly all the early tumors, but OCTA fails to image the peripheral tumors due to its smaller field and prolonged acquisition time. Technological advances and the development of wide-field OCTA in the future can be helpful in identifying all the unsuspected tumors in VHL disease.

Carcinomas renales múltiples como manifestación inicial del Síndrome de Von Hippel Lindau. Presentación de caso / Multiple renal carcinoma as a clinical manifestation of Von Hippel Lindau Syndrome. Case presentation

Introducción: El Síndrome de Von Hippel Lindau es una afección neoplásica multisistémica, heredada de manera autosómica dominante y con alta penetrancia. Su expresividad clínica es muy diversa,oscilando la incidencia entre 1/35000 y 1/36000 nacidos vivos. Esta enfermedad usualmente se diagnostica entre los 20 y 30 años, pero los síntomas pueden aparecer en la infancia. La lesión clínica inicial más común y precoz es el hemangioblastoma de la retina y/o del sistema nervioso central. Objetivo: Presentar un caso de un paciente con carcinomas renales múltiples como manifestación inicial de un Síndrome de Von Hippel Lindau. Presentación del Caso: Paciente masculino de 59 años, con antecedentes de salud, quien acude a urgencias por cuadro febril de 3 días de evolución, que fue interpretado como Dengue; se le realizó, dentro de los complementarios, ultrasonido abdominal, donde se descubrió masa sólida a nivel del polo superior del riñón derecho, asociado a existencia de otra en polo inferior de este mismo riñón, así como de 2 más en el contralateral. Además, se encontraron varios quistes pancreáticos y 2 renales izquierdos corticales. El paciente fue intervenido quirúrgicamente; se corroboró el diagnóstico de carcinomas renales de células claras. El examen oftalmológico reveló la presencia de un hemangioblastoma retiniano derecho; en tanto la tomografía computarizada simple de cráneo y la resonancia magnética espinal no mostraron alteraciones. Conclusiones: Este síndrome es una rara, pero grave afección genética, caracterizada por un alto riesgo de desarrollar enfermedades neoplásicas, lo que hace que sea aún más importante conocerlo, para poder identificar y tratar a tiempo sus temidas complicaciones(AU)

Introduction: Von Hippel Lindau Syndrome is a multisystem neoplastic affection, which is inherited as an autosomal dominant trait, with high penetrance. Its clinical expressivity is very diverse, ranging its incidence between 1/35000 and 1/36000 born alive. This disease is usually diagnosed between the 20 and 30 years of age, but its symptoms can appear in childhood. The most common and early initial clinical lesion is the hemangioblastoma of the retina and/or central nervous system. Objective:To present a case of a patient with multiple renal carcinoma as initial manifestation of Von Hippel Lindau Syndrome. Case presentation: 59 years old male patient with a history of good health who comes to the Emergency Room because of febrile clinical state of 3 days´ evolution, that was interpreted as dengue. Abdominal ultrasound was included in the complementary studies, in which a solid mass at level of upper pole of right kidney was observed, associated with the existence of another one in lower pole of the same kidney, as well as two others in contralateral. Also, multiple pancreatic cysts and two left cortical renal ones were found. The patient underwent surgery, and the diagnosis of clear cells renal carcinoma was corroborated. The ophthalmological exam revealed the presence of a right retinal hemangioblastoma whereas the plain skull CT-scan, and the magnetic resonance imaging of the lumbar spine did not show any alterations. Conclusions:This syndrome is a rare, but a serious genetic affection, characterized by a high risk to develop neoplastic diseases; that´s one reason why it is very important to know about it in order to identify, and treat its feared complications in time(AU)

Clinical manifestation and gene mutation analysis of VHL syndrome families with first diagnosis of cerebral hemangioblastoma / 中华行为医学与脑科学杂志

Objective To detect the mutations of Von Hippel-Lindau (VHL) gene via analyzing the prevalence of family members of VHL syndrome,clinical diagnosis and treatment,and gene analysis of patients with hemangioblastoma.methods All members of the VHL syndrome family members improved all relevant tests and plotted the family map.5 ml peripheral blood was extracted for gene sequencing,and the sequencing Result s were compared with the reported mutations of VHL gene in NCBI database.Result s(1)Analysis of clinical data of four members of the family:Ⅰ-2,Ⅱ-1,Ⅱ-5 suffering from central nervous system hemangioblastoma, Ⅱ-3 with pancreatic,retinopathy and pheochromocytoma,and Ⅱ-5 also combined with kidney,pancreatic lesions.The second generation of patients in the family have been treated surgically.(2)Gene sequencing Result s showed that all subjects in the test had the same mutation:exon2 109 sequence ATATCACACTGCCA was deleted and termination codon UGA appeared in exon 502.Conclusion Through the mutations of the VHL syndrome family,it is found that the family mutation type is a new mutation.For patients with central nervous system hemangioblastoma-based should be suspected of the disease and improve the family history survey.Once the diagnosis of familial VHL syndrome patients are confirmed,it is necessary to inform the other members of the family for clinical screening,and carry out genetic testing to reduce the harm of the disease to the greatest extent.

MRI diagnosis of supratentorial solid hemangioblastoma / 实用放射学杂志

Objective To investigate the MRI features of supratentorial solid hemangioblastoma and to improve its diagnostic accuracy.Methods MRI image manifestations of 7 cases with supratentorial solid hemangioblastoma confirmed by operation and pathology were analyzed retrospectively.Results 7 cases of supratentorial solid hemangioblastoma were solitary.All tumors appeared as round or quasi-round masses with clear boundary, and showed equal or long T1 signal and slight long or long T2 signal,the obvious enhancement was seen in all tumors.There was mild to moderate edema around the tumors.The blood vessel was found within or around the tumors.Conclusion MRI manifestations of supratentorial solid hemangioblastoma have certain characteristics.

Microsurgical treatment of solid hemangioblastoma in medulla oblongata / 中华显微外科杂志

Objective To report the clinical features,microsurgical techniques and outcomes of 5 patients admitted in our hospital,who had solid hemangioblastoma in medulla oblongata in the last 5 years.Methods 5 consecutive cases of solid hemangioblastoma in medulla oblongata operated from March,2011 to May,2016 were reviewed and fl lowed up.Results All patients suffered headache,dizziness and cerico-occipital pain from the beginning plus one was found because of obstructive hydrocephalus.The mean duration before operation was 6.7 months.The mean maximum diameter of tumor was (33.7±3.4)mm.The suboccipital posterior midline approach was performed and gross total resection was achieved in all 5 cases.After operation,endotracheal tube was removed in all 5 patients,but 3 received tracheotomy,and all patients can take food freely now through rehabilitation exercise.Followed up until September 2016,all patients lived a normal life.Conclusion The operation of solid hemangioblastoma in medulla oblongata is full of huge risk,but microsurgical resection is the only cure means for the tumor.