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 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.

Review of treatment and therapeutic targets in brain arteriovenous malformation

2021 ◽  
pp. 0271678X2110267
Author(s):  
Peipei Pan ◽  
Shantel Weinsheimer ◽  
Daniel Cooke ◽  
Ethan Winkler ◽  
Adib Abla ◽  
...  
Keyword(s):  
Animal Models ◽  
De Novo ◽  
Mapk Pathway ◽  
Treatment Options ◽  
Therapeutic Targets ◽  
Current Treatment ◽  
Mitogen Activated Protein Kinase ◽  
De Novo Mutations ◽  
Genetic Syndromes ◽  
Mitogen Activated Protein

Brain arteriovenous malformations (bAVM) are an important cause of intracranial hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely unknown. Current understanding of bAVM etiology is based on studying genetic syndromes, animal models, and surgically resected specimens from patients. The identification of activating somatic mutations in the Kirsten rat sarcoma viral oncogene homologue (KRAS) gene and other mitogen-activated protein kinase ( MAPK) pathway genes has opened up new avenues for bAVM study, leading to a paradigm shift to search for somatic, de novo mutations in sporadic bAVMs instead of focusing on inherited genetic mutations. Through the development of new models and understanding of pathways involved in maintaining normal vascular structure and functions, promising therapeutic targets have been identified and safety and efficacy studies are underway in animal models and in patients. The goal of this paper is to provide a thorough review or current diagnostic and treatment tools, known genes and key pathways involved in bAVM pathogenesis to summarize current treatment options and potential therapeutic targets uncovered by recent discoveries.

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

Hemangioblastomas of the central nervous system

1989 ◽  
Vol 70 (1) ◽  
pp. 24-30 ◽  
Author(s):  
Hartmut P. H. Neumann ◽  
Hans R. Eggert ◽  
Klaus Weigel ◽  
Hartmut Friedburg ◽  
Otmar D. Wiestler ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Screening Program ◽  
Family Background ◽  
Renal Cysts ◽  
Pancreatic Cysts ◽  
Content Type ◽  
Von Hippel Lindau ◽  
The Central Nervous System ◽  
Von Hippel Lindau Syndrome

✓ The findings of a 10-year study (1976 to 1986) conducted in southwest Germany on hemangioblastomas (HBL's) of the central nervous system (CNS) are presented. During that period, 47 HBL's were diagnosed and surgically removed in 44 patients, with a good postoperative survival rate and prognosis. The majority (83%) of these tumors were located in the cerebellum. By thorough clinical examination of the patients and careful evaluation of their family background, it was found that 23% of the HBL patients were afflicted with von Hippel-Lindau syndrome. In addition to the CNS tumors, 14 neoplastic or similar lesions were detected in other tissues. These included angiomatosis of the retinae, pheochromocytomas, pancreatic cysts, renal cysts, and renal carcinoma. The diagnosis of von Hippel-Lindau syndrome was thus established in seven families. The authors suggest the need for a screening program for patients with HBL of the CNS which is designed to confirm or exclude ocular or visceral lesions associated with von Hippel-Lindau syndrome.

scholarly journals Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dali Tong ◽  
Yao Zhang ◽  
Jun Jiang ◽  
Gang Bi
Keyword(s):  
Gene Therapy ◽  
Gene Mutation ◽  
Suppressor Gene ◽  
Pancreatic Cysts ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Genetic Examination ◽  
Examination Methods ◽  
Vhl Disease ◽  
Von Hippel Lindau Syndrome

Abstract Background Classical von Hippel Lindau (VHL) disease/syndrome includes CNS hemangioblastoma, renal or pancreatic cysts, pheochromocytoma, renal carcinoma and exodermic cystadenoma. The syndrome is caused by mutation of VHL tumor suppressor gene. The most prevalent mutations are present in VHL syndrome. To date, > 500 mutations of gene related to the progression of VHL syndrome have been reported. VHL gene mutation presented in single lung or pancreatic tumor has been reported occasionally, but there is no report of both. Methods In this paper, we used CT scan, pathological and genetic examination methods to diagnose a rare atypical VHL syndrome. Results We reported a rare case of atypical VHL syndrome with authenticated VHL mutation at p.Arg167Gln, that was associated with not only bilateral pheochromocytoma but also lung carcinoid and neuroendocrine tumor of pancreas. Based on literature reviews, the patient was recommended to be further subjected to octreotide-based radionuclide therapy. Conclusions Combined with gene detection and clinical diagnosis, we found the inherent relationship between VHL genotype and phenotype, and constructed the standard diagnosis and treatment process of disease with rare VHL mutation from the perspective of gene therapy.

scholarly journals Outcomes of nephron sparing surgery and cortical sparing adrenalectomy in the management of Von Hippel–Lindau syndrome

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Selvin Theodore Jayanth ◽  
Partho Mukherjee ◽  
Arun Jacob Philip George ◽  
J. Chandrasingh ◽  
T. J. Nirmal ◽  
...  
Keyword(s):  
Tertiary Care ◽  
Adrenal Function ◽  
Nephron Sparing Surgery ◽  
Pancreatic Metastasis ◽  
Pancreatic Cysts ◽  
Adrenal Crisis ◽  
Von Hippel Lindau ◽  
Nephron Sparing ◽  
Von Hippel Lindau Syndrome

Abstract Background The management of Von Hippel–Lindau syndrome (VHLS) is multidisciplinary. The urologist is involved in treating the renal, epididymal tumors and often adrenal pheochromocytoma. Preservation of renal and adrenal function is a challenge. We present 17 cases of VHLS in a tertiary care center in South India. Methods A retrospective review of the patients who underwent surgical treatment under urology for VHLS from January 2009 to November 2018 was conducted. The demographic data, the spectrum of manifestation, treatment, change in glomerular filtration rate, adrenal insufficiency, and recurrence-free survival were analyzed. Results There were 17 patients diagnosed with VHLS. The median age of diagnosis was 39 years (range 23–41). The spectrum of clinical manifestation was: multifocal RCC (88%), pancreatic cysts/tumors (70%), cerebellar hemangioblastoma (59%), retinal angiomas (47%), epididymal cysts/tumors (47%), pheochromocytomas (41%), and spinal hemangiomas (30%). There were seven patients with ten pheochromocytoma lesions. Three underwent cortical sparing and seven total adrenalectomies; 13 patients underwent nephron sparing surgery (NSS), of which seven patients had bilateral tumors. The median duration of follow-up was 6.5 years (range 2–12 years). Following NSS, seven patients had a local recurrence, and one developed pancreatic metastasis. Two patients (11%) were lost to follow-up. Renal function was preserved in all patients at the last follow-up, and there was no postoperative adrenal crisis or mortality. Conclusion Nephron sparing surgery and cortical sparing adrenalectomy are the treatment of choice for multifocal RCC and pheochromocytomas in patients with VHLS providing good oncological outcomes and preservation of renal and adrenal function.

scholarly journals Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice

2015 ◽  
Vol 73 (11) ◽  
pp. 946-958 ◽  
Author(s):  
Marina C. Gonsales ◽  
Maria Augusta Montenegro ◽  
Camila V. Soler ◽  
Ana Carolina Coan ◽  
Marilisa M. Guerreiro ◽  
...  
Keyword(s):  
Clinical Practice ◽  
De Novo ◽  
Current Knowledge ◽  
Molecular Testing ◽  
De Novo Mutations ◽  
Genetic Characteristics ◽  
Epileptic Encephalopathies ◽  
New Findings ◽  
Recent Developments ◽  
The Impact

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

Group psychotherapy

2015 ◽  
Author(s):  
Shama Chaiken ◽  
Brittany Brizendine
Keyword(s):  
Group Therapy ◽  
Group Psychotherapy ◽  
Patient Selection ◽  
De Novo ◽  
Treatment Options ◽  
Treatment Modalities ◽  
Successful Implementation ◽  
Evidence Based ◽  
Language Diversity ◽  
Correctional Settings

Group psychotherapy has become a standard practice in community settings, prisons, and to a lesser degree in jails. While simple process groups may still play a limited role in some settings, the field of group therapy has evolved substantially, with some significant work adapting evidence-based therapies for use in correctional settings, or designing them de novo. Logistics and support of group therapy are critical core elements for successful implementation in jails or prisons. These elements include appropriate training and supervision of group facilitators, a structured approach to patient selection and pre-group interviewing, and appropriate support for cultural and language diversity. The specifics of group member confidentiality and development of groups for patients with severe mental illness, intellectual, or learning disabilities are particularly important in this context. Some of the unique challenges of correctional settings include the need for design of treatment modalities for those in maximum security and restricted housing environments. Gender-specific and trauma-informed care are important treatment options still in evolution for the incarcerated population. Implementation of evidence-based, manual-guided treatment in corrections is challenging but achievable with adequate planning and support. Integration of the recovery model, reentry planning groups, and other special purpose groups are becoming more common. This chapter presents the range of evidence based practices and best practices in use, and discusses issues of appropriate patient selection, therapist training required, sustainability, and outcomes.

P902Danon disease: clinical features and outcomes

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M Brambatti ◽  
Y Esshaki ◽  
S Vanam ◽  
V Escobedo ◽  
G Macias ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Presentation ◽  
De Novo ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
De Novo Mutation ◽  
Rank Test ◽  
De Novo Mutations ◽  
Cardiac Morbidity ◽  
Danon Disease

Abstract Background Danon Disease (DD) is a rare X-linked autophagic vacuolar myopathy, characterized by high penetrance and severe cardiomyopathy; cognitive, skeletal muscle and vision impairment may occur as well. Due to its rarity, clinical presentation and outcomes are still uncertain. Purpose To describe clinical features and outcomes of DD in female and male patients Methods Individuals and families from United Kingdom, Australia, and United States were recruited through via advertisements on Facebook groups related to DD. Participants completed a survey about symptoms and medical history and provided their medical records to the research team. Results A total of 44 patients (54.5% female) with positive genetic testing for DD were included. De novo mutations occurred in one out of four patients. Cardiomyopathy occurred in 86.3% of patients (18/24 females, 20/20 males) at a mean age of 7.3 years for males and 19.4 years for females (p=0.001). Females presented with either hypertrophic cardiomyopathy (HCM, 66.7%) or dilated cardiomyopathy (DCM, 8.3%) whereas males presented with HCM 90% of the time. 34.2% of patients were diagnosed with Wolff-Parkinson-White syndrome. Twelve patients (7 females, 5 males) underwent cardiac magnetic resonance (CMR) Out of the 9 cases, 8 (88.9%) exhibited extensive patchy late gadolinium-enhancement (LGE) in multiple segments of the left ventricle; 3 cases also had right ventricular LGE. Median cardiac mass index was 155 g/m2 (Q1-Q3: 70–237; v.n. 31–79 g/m2). Overall, 17 (38.6%) patients died or required or heart transplant (HTx). Median age at the time of death or HTx was 17 years and 42 years in males and females, respectively (p=0.025 by the log-rank test) Cognitive impairment, mainly described as learning disabilities, was diagnosed in 90.0% of males (18/20) and 79.2% (19/24) of females; intelligence quotient (IQ) measurement was reported in 8 patients (3 females, 5 males) and 7 of them showed IQ below the average. Symptomatic skeletal myopathy was present in 28 (63.3%) of patients, with a higher prevalence in males (85% vs. 45.8%; p<0.01). Retinopathy was reported in 14 (31.2%) patients and occurred equally in both genders (p=0.34). Conclusions DD causes significant cardiac morbidity with the need for transplant at a young age; in 25% of cases DD is due to a de novo mutation. While in males DD is more frequently multisystemic with a more rapid clinical deterioration, in females the clinical presentation is variable. However, the presence of severe cases in females warrant the clinicians to screen for DD in both sexes with clinical manifestations or positive family history Acknowledgement/Funding Rocket Pharmaceuticals

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