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Optic nerve haemangioblastoma (ONH) is an uncommon, benign, non-meningothelial, mesenchymal tumour of unclear origin. Most are associated with von Hippel-Lindau (VHL) syndrome (71%), and only 40 cases have been reported in the medical literature. Most of the patients develop non-specific visual symptoms, including decreased visual acuity and/or loss of visual fields, exophthalmos, trigeminal neuralgia, and retroorbital pain. Optic nerve sheath meningioma and optic nerve glioma are among the differential diagnoses that may be considered in this location. Contrast-enhanced MRI is considered an optimal diagnostic tool, which helps to determine some characteristics that guide towards an adequate diagnosis and treatment. We present a 42-year-old patient with a history of VHL syndrome in whom a cerebellar lesion and optic nerve lesions were evidenced, and we did a review of the literature and case analysis.

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Pheochromocytoma is a catecholamine-producing tumor that can occur sporadically or in association with other entities and syndromes. The anesthetic management of these patients must be very careful, focused mainly on avoiding hypertensive crises and therefore stimuli that can trigger them. The role of the anesthesiologist is very important in these cases, not only intraopera- tively but from the moment a pre-anesthetic assessment is made, since patients usually require drugs such as alpha-blockers to reach surgery in optimal conditions. We present the anesthetic management in a 54-year-old woman previously diagnosed with Von Hippel-Lindau syndrome in whom a pheochromocytoma was observed in the clinical follow-up and required to be scheduled for surgery.

El feocromocitoma es un tumor productor de catecolaminas que se puede presentar de forma esporádica o asociada a otras entidades y síndromes. El manejo anestésico de estos pacientes debe ser muy cuidadoso, enfocado principalmente a evitar crisis hipertensivas y por tanto estímulos que puedan desencadenarlas. El papel del anestesiólogo es muy importante en estos casos, no solo de manera intraoperatoria sino desde el momento en el que se hace una valoración preanestésica, ya que los pacientes suelen precisar fármacos como los alfabloqueantes para llegar en unas condiciones óptimas a la cirugía. Presentamos el manejo anestésico en una mujer de 54 años, diagnosticada previamente de síndrome de Von Hippel-Lindau, en la que se objetiva un feocromocitoma en el seguimiento clínico y requiere ser programada para cirugía.

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Introduction Endolymphatic sac tumor (ELST) is a slow-growing, low-grade, locallyinfiltrative tumor arising from the endolymphatic sac/duct, which is located in the posterior part of the petrous temporal bone. It may be sporadic in origin, or may be associated with Von-Hippel Lindau (VHL) syndrome. Case description A 40-year-old female patient with an ELST without VHL syndrome who was treated successfully by microsurgical extirpation of the tumor. Discussion We discuss the radiological features and the histopathology of this rare tumor and review the relevant literature. Conclusion The case herein reported adds to the previously-reported cases of this rare tumor.

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Hemangioblastomas (HBs) of the brain may present without neurological symptoms over a long period of time due to their benignity and slow growth. We herein present the case of a female patient who developed a HB of the fourth ventricle presenting only with severe weight loss and anorexia. The patient was screened for mutations in all 3 exons of the VHL gene using Sanger sequencing, and was found to have a nonsense mutation in the VHL gene (single-nucleotide change causing a premature stop codon: c.481C>T; p.Arg161*), causing formation of a truncated protein, consistent with von Hippel-Lindau syndrome (VHLs). The patient was first misdiagnosed with anorexia nervosa (AN) due to the lack of other symptoms. Molecular diagnosis allows further investigation of other VHLs-related tumors and timely, appropriate treatment. However, misdiagnosing anorexia nervosa may lead to poor prognosis and even death; thus, differential diagnosis is crucial in all such cases. The present case report provides evidence that fourth ventricular lesions may affect food intake control and satiety, and highlights the importance of accurate molecular diagnosis.

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von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the VHL gene. VHLS is associated with the presence of vascular tumors, often hemangioblastoma of the central nervous system, retina, or spinal cord and, less frequently, pancreatic cystic neoplasm, pancreatic neuroendocrine tumor, clear cell carcinoma of the kidney, endolymphatic sac tumor, pheochromocytoma, and paraganglioma. The authors report a case of a patient with VHLS with a rare pathogenic variant in the VHL gene and with an optic nerve hemangioblastoma, a rare phenotypic expression. Case report: A 49-year-old woman was diagnosed with cystic neoplasm of the pancreas, renal cell carcinoma of the right kidney, and hemangioblastoma of the left optic nerve. The patient's family history revealed siblings with VHLS manifestations. The index case was her mother who died at age 63 of clear cell renal carcinoma. The information was obtained by consulting the patient's medical register and by interviews with the patient and her relatives. The presence of left optic nerve hemangioblastoma was suggested by CT scan of the skull and orbit. The sequencing of the VHL gene was performed in the peripheral blood by the polymerase chain reaction (PCR) technique, and the duplication and deletion research was performed using the multiplex ligation-dependent probe amplification (MPLA) technique. The presence of a rare pathogenic variant c.263G> A (p.Trp88Ter) was observed in heterozygosity in the VHL gene that determined a premature stop codon. CT scan of the skull and orbits suggested the presence of HB in the optic nerve of the left eye. The results of the CT scan of the skull and orbits show thickening with tortuosity of the left optic nerve, with a small area of nodular enhancement. The right optic nerve had a conserved aspect. Conclusion: This is the fourth case described of this rare pathogenic variant of the VHL gene, according to the Human Gene Mutation Database and VHLdb database records and with an optic nerve hemangioblastoma of the optic nerve, a very rare phenotypic expression of the VHLS.

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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)

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