scholarly journals Von Hippel-Lindau Syndrome- A Case Report

2020 ◽  
Vol 1 (1) ◽  
pp. 25-28
Author(s):  
Suraj Thulung ◽  
Ashish Baniya ◽  
Subodh Sharma Paudel ◽  
Anirudra Devkota ◽  
Shikher Shrestha
Keyword(s):  
Malignant Tumors ◽  
Obstructive Hydrocephalus ◽  
Positive Family History ◽  
Pancreatic Cysts ◽  
Third Ventriculostomy ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Variable Expression ◽  
Multiple Organs ◽  
Gradual Onset

Von Hippel–Lindau (VHL) disease is a rare, familial disorder involving multiple organs, and characterized by the development of many benign and malignant tumors. It is an autosomal dominant disorder with high penetrance and variable expression. We present a case of a 31-year-old gentleman with gradual onset painless bilateral diminution in the vision for one and a half months with significant positive family history. Radiographic study revealed multiple cerebellar hemangioblastomas with obstructive hydrocephalus, renal cortical and pancreatic cysts and cystic renal cell carcinoma. Symptoms were relieved after endoscopic third ventriculostomy. These constellations of findings suggested von Hippel Lindau (VHL) syndrome and we present this case.

scholarly journals A Review of Von Hippel-Lindau Syndrome

2017 ◽  
Vol 4 (3) ◽  
pp. 20-29 ◽  
Author(s):  
Neha Varshney ◽  
Amanuel A Kebede ◽  
Harry Owusu-Dapaah ◽  
Jason Lather ◽  
Manu Kaushik ◽  
...  
Keyword(s):  
De Novo ◽  
Malignant Tumors ◽  
Treatment Options ◽  
Positive Family History ◽  
Treatment Modalities ◽  
Pancreatic Cysts ◽  
Molecular Testing ◽  
De Novo Mutations ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

Von Hippel-Lindau syndrome (VHL) is a familial neoplastic condition seen in approximately 1 in 36,000 live births. It is caused by germline mutations of the tumor suppressor gene VHL, located on the short arm of chromosome 3. While the majority of the affected individuals have a positive family history, up to 20% of cases arise from de novo mutations. VHL syndrome is characterized by the presence of benign and malignant tumors affecting the central nervous system, kidneys, adrenals, pancreas, and reproductive organs. Common manifestations include hemangioblastomas of the brain, spinal cord, and retina; pheochromocytoma and paraganglioma; renal cell carcinoma; pancreatic cysts and neuroendocrine tumors; and endolymphatic sac tumors. Diagnosis of VHL is prompted by clinical suspicion and confirmed by molecular testing. Management of VHL patients is complex and multidisciplinary. Routine genetic testing and surveillance using various diagnostic techniques are used to help monitor disease progression and implement treatment options. Despite recent advances in clinical diagnosis and management, life expectancy for VHL patients remains low at 40–52 years. This article provides an overview of the major clinical, histological, and radiological findings, as well as treatment modalities.

scholarly journals Papillary Cystadenoma: An Incidental Finding in Tubal Ligation

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Tabitha Lynn Ward ◽  
Neda Zarrin-Khameh
Keyword(s):  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Incidental Finding ◽  
Close Association ◽  
Tubal Ligation ◽  
Adenomatoid Tumor ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Papillary Cystadenoma

von Hippel-Lindau disease (vHLD) is a rare autosomal dominant disorder with multiple benign and malignant tumors of different organs. We report a papillary cystadenoma of the mesosalpinx found in close association with an adenomatoid tumor discovered incidentally following tubal ligation in a patient with vHLD.

scholarly journals Clinical and Laboratory Characteristics of a Large Iranian Kindred Afflicted with Von Hippel Lindau Disease

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Ali Asghar Mir Saeid Ghazi ◽  
Atieh Amouzegar ◽  
Azita Zadeh-Vakili ◽  
Abdolreza Sheikh Rezaei ◽  
Alireza Amirbaigloo ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Malignant Tumors ◽  
Positive Family History ◽  
Clinical Findings ◽  
Kidney Tumors ◽  
Genetic Characteristics ◽  
Von Hippel Lindau ◽  
Study Results ◽  
History Of ◽  
Retinal Hemangioblastoma

Introduction: Von Hippel Lindau (VHL) disease is a hereditary disorder characterized by the development of benign or malignant tumors in the brain, spinal cord, eyes, adrenal medulla, kidney, pancreas, and many other organs. Advances in molecular diagnosis have led to the identification of the affected members of families at earlier stages. We present the clinical, laboratory, and genetic characteristics of five generations of large Iranian kindred with VHL. Case Presentation: The proband, a 52-year-old Iranian man, was recognized with VHL. All family members underwent clinical, laboratory, imaging, and genetic evaluation. Medical files and histopathology reports of patients who had been operated on before were also reviewed. Diagnosis of the disease was based on clinical findings, positive family history of VHL, and development of a central nervous system or retinal hemangioblastoma or pheochromocytoma. Based on diagnostic criteria, our initial evaluations revealed that 10 members of the family had already been affected by the disease. Among them, nine had pheochromocytoma, and one had retinal hemangioblastoma. There was no case of kidney tumors among the kindred. Conclusions: Study results show the high penetrance of the disease and focus on the large burden imposed by the disease on the health and quality of life of patients afflicted with the disease, emphasizing the importance of surveillance from early childhood for detection and management of the disease as early as possible.

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fourth Ventricle ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Radiological Finding ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Viable Option ◽  
Case Presentation

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

scholarly journals GCT-53. CASE OF INTRACRANIAL GROWING TERATOMA SYNDROME WITH DIFFICULTY IN TIMING OF RESECTION

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii339-iii339
Author(s):  
Hidenobu Yoshitake ◽  
Hideo Nakamura ◽  
Yuta Hamamoto ◽  
Yusuke Otsu ◽  
Jin Kikuchi ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Mature Teratoma ◽  
Timing Of Surgery ◽  
Optimal Timing ◽  
Third Ventriculostomy ◽  
Mixed Tumor ◽  
Gland Tumor ◽  
Growing Teratoma Syndrome

Abstract BACKGROUND Intracranial Growing teratoma syndrome(iGTS) is a phenomenon in which a tumor with a teratoma component grows during treatment, and its pathological tissue is often a mature teratoma. Here we report a case of iGTS in which the timing of surgery was determined by tumor markers and changes in tumor size on MRI images. CASE-REPORT: 11-year-old boy with a short stature. He developed a headache and we found a pineal gland tumor on MRI. Due to obstructive hydrocephalus, an endoscopic third ventriculostomy and biopsy were performed. The pathological diagnosis was mature teratoma, but AFP was elevated at 104.2 ng/mL. Considering NGGCT, we started chemoradiation immediately. Despite the declining AFP, it gradually increased, at which point we suspected iGTS. Resection was considered, but at some point tumor growth had stopped, so radiation therapy and a second course of ICE therapy preceded the resection. Thereafter, the tumor was completely removed, and a third course of ICE therapy was performed. DISCUSSION The onset mechanism of iGTS has not been elucidated, and its prediction is difficult. Early resection of the tumor is required, but discontinuation of radiation therapy and side effects of chemotherapy also need to be considered. In our case, resection was performed after normalization of AFP and recovery of myelosuppression. The patient followed an uneventful course, but the timing of resection was controversial. CONCLUSION We experienced a case of iGTS in NGGCT, a mixed tumor with mature teratoma. The optimal timing of the resection was discussed and literature was reviewed.

Von Hippel-Lindau Syndrome Presenting as Pancreatic Cysts

2001 ◽  
pp. 325-330
Author(s):  
F. Scolari ◽  
B.F. Viola ◽  
L. Grazioli ◽  
R. Maiorca
Keyword(s):  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Syndrome

scholarly journals Appendiceal cancer leading to intussusception detected incidentally during follow-up for Peutz–Jeghers syndrome

2020 ◽  
Vol 13 (6) ◽  
pp. 1136-1143
Author(s):  
Kazuhiro Kurihara ◽  
Takanori Suganuma
Keyword(s):  
Malignant Tumors ◽  
Endoscopic Examination ◽  
Autosomal Dominant Disorder ◽  
Tomography Image ◽  
Elevated Lesion ◽  
Poorly Differentiated ◽  
Lower Endoscopy ◽  
Peutz Jeghers Syndrome ◽  
Computed Tomography Image

AbstractPeutz–Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous polyposis, pigmentation, and malignant tumors. We report a case of ileocecal carcinoma that was incidentally detected during follow-up for Peutz–Jeghers syndrome. A 39-year-old man with solitary Peutz–Jeghers syndrome had undergone three abdominal surgeries. He had been followed up via upper and lower gastrointestinal endoscopy and small intestinal endoscopy. In the endoscopic examination of the lower gastrointestinal tract, a 35 mm large, bumpy, elevated lesion was observed in the cecum. This lesion was not observed 9 months earlier during lower endoscopy. Biopsy of the specimen confirmed tubulovillous adenoma and carcinoma. This lesion was judged to be an indication for operation, and we performed ileocecectomy + D3 lymph node dissection. From the excised specimen, poorly differentiated carcinoma and adenoma components in contact with Peutz–Jeghers-type polyps in the appendix were recognized. A review of the computed tomography image obtained 2 years ago confirmed appendiceal swelling. We suspect that the ileocecal carcinoma in the appendix may have rapidly developed within the 9 months, and was incidentally detected on lower endoscopic examination during follow-up. For the prevention of appendicular tumorigenesis, prophylactic appendectomy may be considered in certain cases during follow-up for Peutz–Jeghers syndrome.

Endoscopic third ventriculostomy for obstructive hydrocephalus in children younger than 6 months of age: is it a first-choice method?

2008 ◽  
Vol 24 (9) ◽  
pp. 1021-1027 ◽  
Author(s):  
Radim Lipina ◽  
Štefan Reguli ◽  
Viera Doležilová ◽  
Marie Kunčíková ◽  
Hana Podešvová
Keyword(s):  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Third Ventriculostomy ◽  
First Choice ◽  
Choice Method

Surgical management of spinal cord hemangioblastomas in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 106-116 ◽  
Author(s):  
Russell R. Lonser ◽  
Robert J. Weil ◽  
John E. Wanebo ◽  
Hetty L. Devroom ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Surgical Management ◽  
Postoperative Outcome ◽  
Tumor Location ◽  
Neurological Dysfunction ◽  
Autosomal Dominant Disorder ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Fine Print

Object. Von Hippel—Lindau (VHL) disease is an autosomal-dominant disorder frequently associated with hemangioblastomas of the spinal cord. Because of the slow progression, protean nature, and high frequency of multiple spinal hemangioblastomas associated with VHL disease, the surgical management of these lesions is complex. Because prior reports have not identified the factors that predict which patients with spinal cord hemangioblastomas need surgery or what outcomes of this procedure should be expected, the authors have reviewed a series of patients with VHL disease who underwent resection of spinal hemangioblastomas at a single institution to identify features that might guide surgical management of these patients. Methods. Forty-four consecutive patients with VHL disease (26 men and 18 women) who underwent 55 operations with resection of 86 spinal cord hemangioblastomas (mean age at surgery 34 years; range 20–58 years) at the National Institutes of Health were included in this study (mean clinical follow up 44 months). Patient examination, review of hospital charts, operative findings, and magnetic resonance imaging studies were used to analyze surgical management and its outcome. To evaluate the clinical course, clinical grades were assigned to patients before and after surgery. Preoperative neurological status, tumor size, and tumor location were predictive of postoperative outcome. Patients with no or minimal preoperative neurological dysfunction, with lesions smaller than 500 mm3, and with dorsal lesions were more likely to have no or minimal neurological impairment. Syrinx resolution was the result of tumor removal and was not influenced by whether the syrinx cavity was entered. Conclusions. Spinal cord hemangioblastomas can be safely removed in the majority of patients with VHL disease. Generally in these patients, hemangioblastomas of the spinal cord should be removed when they produce symptoms or signs.

Endoscopic Third Ventriculostomy in Infants Less than One Year of Age: A Short Series of 14 Cases

2021 ◽  
Vol 56 (2) ◽  
pp. 105-109
Author(s):  
Sarita Chowdhary ◽  
Shyamendra Pratap Sharma ◽  
Pranaya Panigrahi ◽  
Manoj Kumar Yadav ◽  
Shiv Prasad Sharma
Keyword(s):  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Aqueductal Stenosis ◽  
Csf Shunt ◽  
Third Ventriculostomy ◽  
Occipital Encephalocele ◽  
Shunt Implantation ◽  
Permanent Morbidity ◽  
One Year

<b><i>Background:</i></b> Endoscopic third ventriculostomy (ETV) is currently considered as an alternative to cerebrospinal fluid (CSF) shunt systems in the treatment of obstructive hydrocephalus. This procedure allows the CSF to drain in the basal cisterns and reabsorbed by arachnoid granulations, and avoiding implantation of exogenous material. <b><i>Aims and Objectives:</i></b> The purpose of this study was to assess the success rate of ETV in infants less than 1 year of age with congenital noncommunicating hydrocephalus. <b><i>Material and Methods:</i></b> This study was a 2-year prospective study from August 2017 to July 2019. ETVs were performed in 14 patients younger than 1 year with diagnosis of noncommunicating hydrocephalous. A failure was defined as the need for shunt implantation after ETV. Phase-contrast MRI of the brain was done after 6 months to see patency of ETV fenestration and CSF flow through ventriculostomy. <b><i>Results:</i></b> ETV was tried in 18 patients and successfully performed in 14 patients. Out of the 14 patients, shunt implantation after ETV was performed in 3 patients (failed ETV). In the successful cases, etiology was idiopathic aqueductal stenosis in 8, shunt complications in 2, and 1 case was a follow-up case of occipital encephalocele; the mean age was 7.7 months (range 3–12). In the 3 failed cases, etiology was aqueductal stenosis, mean age was 7.6 months (range 3–11). In all ETVs, failed patients MPVP shunting was done. Follow-up of nonshunted patients was done from 6 to 24 months (mean 15 months). There was no mortality or permanent morbidity noted following ETV. <b><i>Conclusion:</i></b> ETV is a good surgical procedure for less than 1-year-old children.

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