Jugular Foramen's Paraganglioma in a Patient with Von Hippel-Lindau Disease: Case Report

Glomus jugular tumors, also known as paragangliomas (PGLs), are rare and related to several clinical syndromes described. These are located in the carotid body, the jugular glomus, the tympanic glomus and the vagal glomus. The symptoms are directly related to the site of involvement and infiltration. These lesions have slow growth, are generally benign and hypervascularized, have a peak incidence between the age of 30 to 50 years old; however, when associated with hereditary syndromes, they tend to occur a decade earlier. Several familial hereditary syndromes are associated with PGLs, including Von Hippel- Lindau disease (VHL) in< 10% of the cases. The diagnosis and staging of PGLs are based on imaging and functional exams (bone window computed tomography [CT] with a "ground moth" pattern and magnetic resonance imaging (MRI) with a "salt and pepper" pattern). The cerebral angiography is a prerequisite in patients with extremely vascularized lesions, whose preoperative embolization is necessary. The histopathological finding of cell clusters called "Zellballen" is a characteristic of PGLs. Regarding the jugular foramen, the combination of two or three surgical approaches may be necessary: (1) lateral group, approaches through themastoid; (2) posterior group, through the retrosigmoid access and its variants; and (3) anterior group, centered on the tympanic and petrous bone. In the present paper, we report a case of PGL of the jugular foramen operated on a young female patientwho underwent a surgery with a diagnosis ofVonHippel-Lindau Disease (VHL) at the Neurosurgery Service of the Hospital Heliópolis, São Paulo, state of São Paulo, Brazil in 2018, by the lateral and posterior combined route.

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)

Spinal Cord Hemangioblastomas in von Hippel-Lindau Disease: Management of Asymptomatic and Symptomatic Tumors

PURPOSE: Standard treatment of asymptomatic spinal cord hemangioblastoma in von Hippel-Lindau (VHL) disease has yet to be established. The purpose of this study was to propose guidelines for the treatment of asymptomatic spinal cord hemangioblastomas in VHL disease. MATERIALS AND METHODS: VHL disease patients treated for spinal cord hemangioblastomas between 1999 and 2009 were included. All spinal cord hemangioblastomas were divided into three groups: Group 1, asymptomatic tumors at initial diagnosis followed with serial imaging studies; Group 2, asymptomatic tumors at initial diagnosis that were subsequently resected; and Group 3, symptomatic tumors at initial diagnosis, all of which were resected. RESULTS: We identified 24 spinal cord hemangioblastomas in 12 patients. Groups 1, 2 and 3 comprised 13, 4 and 7 tumors, respectively. Group 1 exhibited a smaller tumor volume (257.1 mm3) and syrinx size (0.8 vertebral columns) than those of Group 2 (1304.5 mm3, 3.3 vertebral columns) and Group 3 (1787.4 mm3, 6.1 vertebral columns). No difference in tumor volume or syrinx size was observed between Groups 2 and 3. Five tumors in Group 1 were resected during follow-up because symptoms had developed or the tumor had significantly grown. Finally, among 17 asymptomatic tumors at the initial diagnosis, nine tumors were resected. Only one tumor of these nine tumors resulted in neurological deficits, while five of seven symptomatic tumors caused neurological deficits. CONCLUSION: Selective resection of asymptomatic tumors before they cause neurological deficits might bring about better outcomes.

Hemangioblastoma supratentorial extra-axial: reporte de un caso y revisión de la literatura / Extra-axial supratentorial hemangioblastoma: a case report and literature review

El hemangioblastoma es un tumor benigno del sistema nervioso central que usualmente se originan en la fosa posterior, especialmente en el cerebelo. Existen alrededor de 114 casos reportados de ubicación supratentorial y no encontramos ningún caso de tipo extraaxial. Nosotros presentamos un caso de hemangioblastoma cerebral izquierdo, en relación con la fisura de Silvio, sólido, no relacionado con la enfermedad de Von Hippel-Lindau, revisamos la literatura relacionada con dicha entidad, y discutimos las características imagenológicas, macroscópicas e histológicas así como las dificultades en su diagnóstico.

Enfermedad de von Hippel Lindau en una familia chilena: diagnóstico clínico y genético / Von Hippel Lindau disease: report of an affected family

Von Hippel Lindau disease is a hereditary syndrome characterized by the appearance of benign and malignant tumors in different organs. Its incidence is 1 case per 36000 born alive. We report a family with the disease. The index case was a male with a bilateral pheochromocytoma and cerebelar and retinal hemagioblastomas that had a sudden death due to a cerebrovascular accident at the age of 52 years. One sibling had central nervous system and retinal hemangioblastomas and other was operated for an unilateral pheochromocytoma. Both siblings had the R167Q VHL mutation of the syndrome. Other family members did not have the mutation.

Verteporfin photodynamic therapy of retinal capillary hemangioblastoma in von Hippel-Lindau disease.

An 18-year-old boy presented to us with bilateral retinal hemangioblastoma and von Hippel-Lindau disease with history of cerebral capillary hemangioblastoma and embryonic cell carcinoma of left testes. The vision in the right eye was already lost with development of secondary closed angle glaucoma, optic atrophy with subsequent development of bullous keratopathy. The multiple retinal angiomatous lesions in the seeing left eye were treated with various modalities like triple freeze thaw cryopexy, focal lasers and transpupillary thermo therapy in multiple sittings over a period of almost 20 years since detection. One particular angiomatous lesion in the left eye was showing resistance to all the above mentioned modalities and was finally successfully treated with verteporfin and photodynamic therapy to achieve complete regression without any post-treatment complication and with a sustained 20/20 vision till a follow-up of 15 months.

case of Von Hippel-Lindau disease with exudative maculopathy

Von Hippel-Lindau [VHL] disease is a rare multisystem familial tumor syndrome of autosomal dominant inheritance. Hallmark lesions include retinal, cerebellum and spinal cord hemangioblastomas, renal cell carcinomas, adrenal pheochromocytomas, angiomatous or cystic lesions of the kidneys, pancreas, and epididymis. We report a case of VHL disease in a 26-year-old patient who presented with exudative macular edema. Ocular and systemic studies revealed the presence of retinal and central nervous system hemangioblastomas, adrenal pheochromocytoma, multiple pancreatic, and kidney cysts. The retinal angiomas were successfully treated with argon laser photocoagulation and cryotherapy

Malignant Glioma Arising at the Site of an Excised Cerebellar Hemangioblastoma after Irradiation in a von Hippel-Lindau Disease Patient

We describe herein a malignant glioma arising at the site of the resected hemangioblastoma after irradiation in a patient with von Hippel-Lindau disease (VHL). The patient was a 25 year-old male with multiple hemangioblastomas at the cerebellum and spinal cord, multiple pancreatic cysts and a renal cell carcinoma; he was diagnosed as having VHL disease. The largest hemangioblastoma at the right cerebellar hemisphere was completely removed, and he received high-dose irradiation postoperatively. The tumor recurred at the same site 7 years later, which was a malignant glioma with no evidence of hemangioblastoma. The malignant glioma showed molecular genetic profiles of radiation-induced tumors because of its diffuse p53 immunostaining and the loss of p16 immunoreactivity. The genetic study to find the loss of heterozygosity (LOH) of VHL gene revealed that only the cerebellar hemangioblastoma showed allelic losses for the gene. To the best of our knowledge, this report is the first to show a malignant glioma that developed in a patient with VHL disease after radiation therapy at the site of an excised hemangioblastoma. This report also suggests that radiation therapy should be performed very carefully in VHL patients with hemangioblastomas.

Hemangioblastomas aparentemente esporádicos e doença de von Hippel-Lindau não suspeita / Apparently sporadic hemangioblastomas and not suspected von Hippel-Lindau disease

Objetivo: Apresentar os achados associados à doença de von Hippel-Lindau em pacientes portadores de hemangioblastoma do sistema nervoso central, aparentemente esporádico, submetidos a rastreamento (screening)em um centro neurocirúrgico de referência.Métodos:Na base de dados do Instituto Nacional de Neurologia e Neurocirurgia da Cidade do México foram identificados todos os pacientes com diagnóstico histológico confirmado de hemangioblastomado sistema nervoso central entre janeiro de 1980 e agosto de 2000.Os arquivos médicos, radiológicos e patológicos desses pacientes foram revisados retrospectivamente. Destes, 25 pacientes assintomáticos concordaram em submeter-se ao rastreamento, por meio de exame físico, ultra-sonografia e tomografia axial computadorizada de abdômen,ressonância magnética cranioespinhal e exame oftalmológico.Resultados: 32 por cento dos pacientes apresentaram policistose, 16 por cento, hemangioblastomas múltiplos e 12 por cento, carcinomas viscerais. Segundo os critérios de Neumann, logrou-se estabelecer o diagnóstico clínico da doença de von Hippel-Lindau em 60 por cento dos casos. Conclusão:A presença de lesões assintomáticas nos portadores da doença de von Hippel-Lindau assinala a falta de sensibilidade do exame clínico, fazendo-se necessário o rastreamento de todo paciente portador de hemangioblastomas do sistema nervoso central.

Pancreatic involvement in Von Hippel-Lindau disease.

BACKGROUND: Involvement of the pancreas in Von Hippel-Lindau disease that is a tumor predisposing syndrome mentioned in literature with some morbid and mortal progression. AIMS: For evaluation the faith of the pancreatic involvement in VHL disease we analysed our patient population with VHL disease. MATERIALS AND METHODS: 12 of the 56 patients that were evaluated in our institute with the diagnosis of Von Hippel-Lindau disease had pancreatic involvement. They are periodically examined for 5 years follow up period. Their retrospective analysis was accomplished. RESULTS AND CONCLUSIONS: Pancreatic involvement in our patient population disclosed lesions that were multicysts or serous cystadenomas. During follow up period, we did not observe significant morbidity related to pancreatic involvement. Repeated radiological examination of pancreatic lesions disclosed insignificant modifications such as slight increase or decrease in size. Whereas we considered morbidity and mortality related to renal and central nervous system pathologies in VHL disease. Shortly, even pancreatic involvement in VHL disease requires close clinical follow up, morbidity and mortality in this case is not severe as in renal and the central nervous system involvement.

Recurrencia de feocromocitoma en escolar de 11 años diagnosticado por I-131 MIBG / Recurrence of pheocromocytoma in 11 years old school child, diagnosed by I-131 MIBG

Pheocromocytoma is a paraganglioma with an incidence of arterial hypertension approximately of 1 percent ,but its diagnosis has several important issues from the clinical point of view. 1-The tumor resection frecuently cure the hypertension. 2.-Its manifestations might simulates other diseases like carcinoid Sx, hypertiroidism,etc. 3.-It is a familiar disease transmitted by an autosomic dominant way. It is 10 percent ilateral, 10 percent extraadrenal, 10 percent occur in children and 10 percent are malignant. We present a case of pheocromocytoma recurrency in a young girl,11 y.o. operated 8 months before, at the Clinical Hospital, National University of Paraguay, School of Medicine for a right suprarrenal gland pheocromocytoma of 2cms of diameter, who consults the Pediatryc Department for arterial hypertension and cefalea. She also had a Von Hippel Sx and Glaucoma. Nuclear Medicine is a non invasive method that use the I-131M ethayodobencylguanidine(MIBG-I-131) with high accuracy to diagnose and treat both neuroblastoma and pheocromocytoma I-131 MIBG is the gold standard for the diagnosis of both entities with a sensitivity between 94-100 percent and specificity of 100 percent being the best method to evaluate these diseases in the pre and post operatory

Hemangioblastomas: achados clínicos, epidemiológicos e anatomopatológicos em 14 casos / Haemangioblastomas: clinical, epidemiological and pathological findings in 14 cases

Relatamos os achados clínicos, epidemiológicos e anatomopatológicos de 14 casos de hemangioblastoma. Sessenta e quatro por cento ocorreram em pacientes do sexo masculino, com idades variando de 16 a 60 anos, com média de 34,4 anos. Nove localizaram-se no cerebelo. Os sintomas mais comuns foram cefaléia (n=7) e tontura (n=7), com período médio de evolução de 70 dias. O diagnóstico de síndrome de von Hippel-Lindau (vHL) foi feito em 3 pacientes. Onze pacientes foram submetidos a ressecção cirúrgica total e 3 a exérese parcial. Evidenciou-se recidiva em 28 ppor cento dos casos, em 3 anos de acompanhamento. Os pacientes com vHL apresentaram recidiva em 66 por cento dos casos. Estes achados aproximam-se dos encontrados na literatura, enfatizando a morbidade deste tumor quando associado à vHL.

von Hippel Lindau syndrome presenting as obstructive jaundice with involvement of pancreas in two siblings.

Von Hippel Lindau disease is rare autosomal dominant disorder. In our patient's family, 4 out of 7 siblings had manifestations of the disease; 3 of those affected had pancreatic lesions with obstructive jaundice in 2 siblings caused by pancreatic cysts is reported for the first time.

Von Hippel-Lindau disease without Lindau's tumour.

A case of Von Hippel-Lindau's disease lacking the classical Lindau's tumour is reported. The uncommon features of this case are highlighted and the relevant literature is briefly outlined.