Cyst Of Pancreas Research Articles

A quantification of gastric and duodenal fluid volumes in older adults using MRI

Older adults are an inherently heterogeneous population with various underlying pathologies, medication use, and habits. In this study, the variability of this population was studied for the gastric and duodenal fluid volumes, as the amount of gastrointestinal volumes could play an essential role in the dissolution of drugs. The fluid volumes were retrospectively quantified by using magnetic resonance imaging (MRI). In 265 included fasted older individuals, the gastric fluid volume was 28.9 ± 21.1 mL (arithmetic mean ± standard deviation). No significant covariate-effect on stomach fluid volume was observed for various medication use, pathologies, and habits (e.g. hypertension, smoking, proton-pump inhibitors (PPIs), and aspirin). The gastric fluid volume remained constant with increasing age and had a high variability. The volumes and the variability were, however, not higher than the gastric values reported in healthy younger adults. The duodenal fluid volume was 16.6 ± 10.0 mL and a slight but statistically significant decrease with age was seen. In addition, cystic pancreas, obesity, diuretics, and PPI use demonstrated a moderate but significant correlation with the duodenal fluid volume. The findings of this study could be considered when developing and testing new drug candidates for the older adult population. For example, the volumes including their variability could be used as an input in physiologically based pharmacokinetic modelling approaches to predict drug exposure in this population.

Endoscopic ultrasound-guided needle-based confocal laser endomicroscopy for pancreatic cystic lesions: current status and future prospects.

Pancreatic cystic lesions (PCLs) have increased in prevalence due to the increased usage and advancements in cross-sectional abdominal imaging. Current diagnostic techniques cannot distinguish between PCLs requiring surgery, close surveillance, or expectant management. This has increased the morbidity and healthcare costs from inappropriately aggressive and conservative management strategies. Endoscopic ultrasound (EUS) needle-based confocal laser endomicroscopy (nCLE) allows for microscopic examination and delineation of the surface epithelium of PCLs. Landmark studies have identified characteristics distinguishing various types of PCLs, confirmed the high diagnostic yield of EUS-nCLE (especially for PCLs with an equivocal diagnosis), and shown that EUS-nCLE helps to change management and reduce healthcare costs. Refining procedure technique and reducing procedure length have improved the safety of EUS-nCLE. The utilization of artificial intelligence and its combination with other EUS-based advanced diagnostic techniques would further improve the results of EUS-based PCL diagnosis. A structured training program and device improvements to allow more complete mapping of the pancreas cyst epithelium will be crucial for the widespread adoption of this promising technology.

Pancreatic Pseudocyst in A Child: About A Case, in the Hospital of the District of the Commune IV of Bamako

The pseudocyst of the pancreas is rarely diagnosed and treated in our hospital, we report this first case of a 10-year-old child with no particular medical-surgical history with a history of impact trauma from the handlebars of his bicycle during a walk in the village. A week later, progressive abdominal pain appeared associated with an increase in the volume of the abdomen. A month after the trauma the signs of gastric and biliary compression settled type of nausea, postprandial vomiting, weight loss, anorexia, jaundice. After clinical, biological and radiological examinations, we retained the diagnosis of a pseudo cyst of the symptomatic pancreas. The treatment consisted in making an internal surgical bypass Kystogastric. Cytobacteriological examination of the collection of the contents of the pancreatic cyst revealed a multiresistant gram-negative bacterium «Achromobacter dentrificans», antibiotic therapy adapted to the germs was administered. The surgical suites were simple.

The multidisciplinary pancreatic cyst clinic: A collaborative approach to streamlined management

BackgroundPancreatic cysts are often incidentally detected on routine imaging studies. Of these, mucinous cysts have a malignant potential. Several guidelines propose different management strategies, and implementation in patient care is inconsistent in the absence of dedicated infrastructure. MethodsTo address the challenges of pancreatic cyst diagnosis and management, we established a multidisciplinary pancreas cyst clinic (PCC) within our health system. This clinic encompasses both tertiary care academic centers and community hospitals, with leadership from surgical oncology, gastroenterology, and radiology. Our PCC's primary goal is to provide accurate diagnosis and tailored management recommendations for all patients with pancreatic cysts. Additionally, we maintain a prospective database to study the disease's natural history and the outcomes of various treatment strategies. Clinic infrastructureThe clinic meets once per week for 45 min virtually via Zoom in the mornings. Patients are referred via electronic medical record (EMR) order, telephone call, or email from patient or referring provider. A dedicated advanced practice provider reviews referrals several times per day, calls patients to gather clinical data, ensures imaging is uploaded, and coordinates logistical aspects of the meeting during the dedicated time. Conferences are attended by representatives from surgery, radiology, medical pancreatology, and interventional gastroenterology. Each patient case is reviewed in detail and recommendations are submitted to referring providers and patients via an EMR message and letter. For patients requiring imaging surveillance, patients are followed longitudinally by the referring provider, gastroenterology team, or surgical team. For patients requiring endoscopic ultrasound (EUS) or surgical consultation, expedited referral to these services is made with prompt subsequent evaluation. ResultsA total of 1052 patients from our health system were evaluated between 2020 and 2021. Of these, 196 (18.6 %) underwent EUS, 41 (3.9 %) underwent upfront surgical resection, and the remainder were referred to gastroenterology (141–13.4 %), surgery (314–29.8 %), or back to their referring provider (597–56.7 %) for ongoing surveillance in collaboration with their primary care provider (PCP). Of cysts under surveillance, 61.3 % remained stable, 13.2 % increased in size, and 2 % decreased in size. A total of 2.3 % of patients were recommended to discontinue surveillance. ConclusionsThe PCC provides infrastructure that has served to provide multidisciplinary review and consensus recommendations to patients with pancreatic cysts. This has served to improve the application of guidelines while providing individualized recommendations to each patient, while aiding non-expert referring providers throughout the region.

Detection Rate of Small Pancreas Cysts and Intrareader Reliability of the Cysts Size Measurements on Transabdominal Ultrasonography.

This study aimed to assess the detection rate of small (<10 mm) pancreas cyst and intrareader reliability for cyst size measurements on transabdominal ultrasonography (US). From 2020 to 2022, 194 pancreas cysts in 173 patients, incidentally detected on computed tomography or magnetic resonance imaging, were evaluated on US by 1 of 2 radiologists (readers 1 and 2). Intrareader agreements of cyst size measurements on US were assessed by intraclass correlation coefficient (ICC). Bland-Altman plot was used to visualize the differences between the first and second size measurements in each reader. In this study, readers 1 and 2 evaluated 86 cysts in 76 patients and 108 cysts in 97 patients, respectively. Most of the cysts (191 of 194) were located in the nontail portion of the pancreas. Overall detection rate of pancreas cysts by US was 92.3% (179 of 194). The mean size of measured 179 pancreas cysts was 4.7 ± 1.5 mm. The readers showed excellent intrareader agreements (ICC = 0.925 and 0.960) for cyst size measurements, except for the cysts with size ≤5 mm, where both readers showed good intrareader agreements (ICC = 0.848 and 0.873). The 95% limits of agreement of readers 1 and 2 were 13.8% and 14.9% of the mean, respectively. Therefore, transabdominal US could be a reliable follow-up imaging modality for small (<10 mm) nontail pancreas cysts incidentally detected on computed tomography or magnetic resonance imaging, especially for the cysts with size between 5 and 10 mm. Size changes of the pancreas cysts approximately less than 15% may be within the measurement error.

Optimal carcinoembryonic antigen (CEA) cutoff values in the diagnosis of neoplastic mucinous pancreatic cysts differ among assays

AimPancreatic cyst fluid carcinoembryonic antigen (CEA) is a pivotal test in the diagnosis and management of neoplastic mucinous cysts (NMC) of the pancreas. Cyst fluid CEA levels of 192 ng/mL...

Congenital Cyst of Pancreas in a Newborn: A Rare Presentation

Pancreatic cysts are rare lesions in newborns. Prenatal diagnosis of true congenital pancreatic cyst is rare and many times cystic lesion on prenatal scans confused with mesenteric cyst, ovarian cyst, and left renal cyst. Here we report a newborn presented with antenatally detected upper abdominal cystic lesion. The cystic mass was located in the left upper side of the abdomen, and total cystectomy was performed without any intra or post-operative complication. Histopathological examination demonstrated presence of pancreatic tissues in the wall of cyst with foci of inflammation and cystically dilated ducts, lined by flattened epithelium. Features suggestive of congenital true pancreatic cyst with pancreatic fluid as its predominant content.

Dermoid cyst of pancreas: A report of an unusual case

Introduction: Pancreatic dermoid cyst is a rare, benign germ cell tumour and part of differential diagnosis for cystic neoplasm of pancreas, where it shows a slight preference for the pancreatic head. Case Report: We report a case of dermoid cyst of pancreas in a 17-year-old female patient. Patient presented with epigastric pain, anorexia and lump in epigastric region. CECT showed a well marginated cystic lesion with tiny speck of calcification in wall and fatty component anteriorly in epigastric region in midline and towards right arising from anterior aspect of head of pancreas. The fat planes surrounding the lesion are normal. The CBD was seen lying on posterior aspect of the lesion. Conclusion: Pre-operative diagnosis is difficult and it is usually diagnosed intraoperatively or by histopathological examination of the specimen.

Results of transgastric drainage of fluid collections and postnecrotic pancreas cysts in patients with acute pancreatitis

INTRODUCTION. The issues of treating patients with acute fluid collections and postnecrotic cysts are still relevant at the present time. Optimization of the tactics of treatment of patients at the early stages of the formation of postnecrotic cysts makes it possible to reduce the percentage of complications.The OBJECTIVE was to develop diagnostic criteria for the formation of a cyst capsule at the early stages of acute pancreatitis, to determine the optimal timing and options for transgastric drainage of cysts.METHODS AND MATERIALS. The results of treatment of 62 patients were analyzed. All patients underwent computed tomography with bolus contrast and endoscopic ultrasonography. There were 2 groups of patients who underwent surgical treatment in the early and late periods. The results of endoscopic transgastric drainage of postnecrotic pancreatic cysts were analyzed.RESULTS. Based on the analysis of the results of treatment of patients with postnecrotic pancreatic cysts and acute peripancreatic fluid collections, the data of multispiral computed tomography and endoscopic ultrasonography at the stages of cyst formation, options and optimal timing of endoscopic transgastric drainage were determined. Causes of complications accompanying this method were identified and analyzed. The technique of transgastric drainage has been improved, methods for the prevention of complications have been proposed.CONCLUSION. The obtained results make it possible to recommend diagnostic criteria and a treatment algorithm for use in clinical practice.

Incidence of thyroid nodules in early stage autosomal polycystic kidney disease

BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. Defect in cilia-mediated signaling activity is a crucial factor leading to cyst formation. Hence, ADPKD is regarded as a systemic disorder with multiple extrarenal complications, including cysts in other organs, for instance, the liver, pancreas, spleen, or ovaries. Interestingly, loss-of-function of primary cilia has been recently found to contribute to a malignant transformation from degenerated thyroid follicles. However, the increased incidence of thyroid nodules in ADPKD patients has not yet been fully confirmed.ObjectivesTo determine the incidence of thyroid lesions in patients with ADPKD in comparison to previous population studies. Moreover, we aimed to investigate if the pace of the disease progression is associated with a higher prevalence of thyroid lesions.Material and methodsIn 49 early-stage ADPKD patients recruited from our center, we performed ultrasonography of the thyroid glands, and laboratory evaluation of thyroids function. We compared the results with population studies.ResultsTwenty-three individuals had solid, cystic-solid, or cystic lesions revealed in the ultrasonography and 2 patients had a positive past medical history for thyroidectomy due to nodular goiter. In 10 patients out of the 23, only minor cysts with no clinical significance were found and 13 out of the 23 patients had solid or cystic-solid lesions, which occurred to be benign based on three years of follow-up or the biopsy of the nodule.ConclusionsWe found no increased incidence of thyroid gland lesions in early ADPKD patients in comparison to previous population studies. Plausibly, mechanisms other than defective cilia signaling are involved in the risk for focal thyroid lesions formation. Moreover, the rate of progression of kidney function decline seems to be not accompanied by the higher incidence of thyroid pathology.

External-internal transgastric drainage of pancreatic pseudocysts

The article presents an analysis of the results of puncture drainage of pancreatic pseudocysts. The medical records of patients who were hospitalized in the past four years to the surgical departments were analyzed. In all the cases, the cause of the formation of pancreatic pseudocysts was biliary destructive pancreatitis. There were 86 such patients in total; all were female, their age ranged from 42 to 78 years. The procedure for draining pancreas cysts was performed under ultrasound guidance, using a GE Logik P 5 ultrasound scanner with attachments for color Doppler mapping with convex sensor 3.5–5 MHz. With formed postnecrotic cysts, patients underwent cystogastroanastomosis (CGA) under the control of ultrasound and EGD. The duration of the stay of patients in the hospital was 7–14 days. In 14 cases, patients were discharged from the hospital with drains under the supervision of a surgeon at the place of residence. Such complications of drainage of pancreas pseudocysts as bleeding, peritonitis and suppuration, were not observed. Cyst recurrence was registered in 2 cases after primary external drainage of the cyst cavity.

ХИРУРГИЧЕСКОЕ ЛЕЧЕНИЕ ГИПЕРТЕНЗИОННО-ПРОТОКОВОГО ТИПА ХРОНИЧЕСКОГО ПАНКРЕАТИТА, В СОЧЕТАНИИ С СИНДРОМОМ БИЛИАРНОЙ ОБСТРУКЦИИ

Background. The frequency of chronic pancreatitis and its complications is steadily increasing, which makes the problem of treating this pathology one of the most urgent and significant. Objective. Improvement of the results of surgical treatment of patients with hypertension-ductal type of chronic pancreatitis with extended stricture of the intrapancreatic part of the common bile duct. Material and methods. During the period 2006–2021, 328 operations were performed in the Grodno University Clinic due to chronic pancreatitis with pathology of the ductal system in combination with pancreatic cysts. The total number of complications was 5,1%. 18 patients with chronic recurrent pancreatitis, ductal hypertension in combination with a cyst of the head pancreas, also with extended stricture of the terminal part common bile duct and mechanical jaundice were operated on according to the methods developed in the clinic: 12 patients underwent choledochopancreatoejunostomy, 5 patients underwent choledochocystopancreatoejunostomy, choledochocystoduodenostomy was performed in 1 case. Results. The developed methods make it possible to perform adequate internal drainage of the ductal system of the pancreas and bile ducts, as well as cystic formations. Conclusions. The application of the developed methods improves the results of surgical treatment complicated chronic pancreatitis.

A case report of simple mucinous cyst of pancreas detected by rupture.

IntroductionSimple mucinous cyst (SMC) of pancreas is a disease defined by the Baltimore Consensus in 2014. Pancreatic mucus-producing neoplasms are considered to be premalignant tumors, but SMC is not considered to have a risk of malignancy or recurrence.Presentation of caseThe case was a woman in her 50s with a chief complaint of abdominal pain. A blood exam showed an increase in the inflammatory response, and a slight increase of Amylase. CT showed a cystic lesion 80 mm in size at tail of the pancreas, and disproportionate fat stranding and ascites around it. We diagnosed peritonitis associated with the rupture of a cystic lesion accompanied by pancreatitis. Abdominal pain was improving, and we decided to proceed with the detailed examination. MRI showed a uniform hyper-intensity on T2WI, and a nodular-like hypo-intensity was observed inside, which was enhanced. During the follow-up, the lesion had gradually grown and re-ruptured. As we could not deny malignancy by image findings, distal pancreatectomy was performed. The intracystic fluid was browny and turbid, and Amylase, CEA and CA19-9 of the cystic fluid were elevated. We diagnosed it SMC by histopathological findings. Currently, she had no recurrence for 1 year.DiscussionSMC is a type of true cysts, so rupture was rare. However, if the cyst wall becomes weak due to complications such as acute pancreatitis. It is probable that our case had pancreatitis and the cyst wall was weakened.ConclusionSMC detected by rupture was very rare, so we report this case.

Endoscopic Ultrasound Guided Fine-Needle Aspiration for Solid Lesions in Chronic Pancreatitis: A Systematic Review and Meta-Analysis.

Patients with chronic pancreatitis (CP) are at a higher risk of developing pancreatic adenocarcinoma compared the general population with an estimated 5% risk of developing pancreatic cancer in 20years. Endoscopic ultrasound fine needle aspiration (EUS-FNA) of solid pancreatic lesions (SPL) has an excellent sensitivity (85-90%) and specificity (98-100%) for diagnosing pancreatic malignancy. However, data on the performance characteristics of EUS-FNA in CP are mixed. In this systematic review and meta-analysis, we aim to examine data from published studies on the diagnostic performance of EUS-FNA in detecting pancreatic malignancy in CP. We conducted a comprehensive search of MEDLINE, Cochrane, EMBASE, Scopus databases for studies published in English language that reported performance characteristics of EUS-FNA for SPL up to November 2020. Two reviewers independently conducted screening, full text review and data extraction according to the PRISMA guidelines. Quality of included studies was assessed using the risk of bias in non-randomized studies of interventions (ROBINS-I) tool. The parameters of interest were sensitivity, specificity, negative, and positive likelihood ratios. Cochran Q test and I statistics were used to determine the between-study heterogeneity. Funnel plots were used to describe publication bias. A total of 6753 studies were identified on initial search. Studies that reported EUS-FNA of cystic pancreas lesions were excluded. Eight studies met the inclusion criteria. Seven studies were retrospective, and one was prospective. A total of 593 patients with CP underwent EUS-FNA for SPL. The pooled sensitivity of EUS-FNA was 65% (95% CI 52.6-75.6%, I2 = 44%), specificity was 96.8% (75-99.7%, I2 = 89%), negative likelihood ratio (NLR) 41.4 (11.1-149.6, I2 = 70%), positive likelihood ratio (PLR) 24.1 (2.8-208, I2 = 90%). The pooled data from seven studies that compared 901 non-CP vs. 127 CP showed that the sensitivity of EUS-FNA in diagnosing pancreatic malignancy was 91.5 vs. 65.3% [OR (95% CI) 5.5 (2.9-10.2), I2: 31.8%]. The specificity pooled from six studies [333 non-CP vs. 357 CP] was 95.9% vs. 82.4%, [OR (95% CI) 1.3 (0.2-9.8), I2 = 73%]. The risk of bias was serious in one study, low in four studies and moderate in three studies. This pooled meta-analysis shows a low sensitivity of EUS-FNA in diagnosing malignancy in CP patients with SPL in comparison to patients without CP. Modalities such as EUS-fine needle biopsy have high sensitivity and specificity for diagnosing pancreatic cancer and should be considered in patients with CP and suspected pancreatic malignancy.

Pancreas Cancer Incidence and Pancreas Cancer-Associated Mortality Are Low in National Cohort of 7211 Pancreas Cyst Patients

Background and AimsPancreatic cancer incidence and mortality among patients with pancreas cysts are unclear. The aims of this study are to evaluate incidence of pancreatic cancer and cause-specific mortality among patients with pancreatic cysts using a large national cohort over a long follow-up period.MethodsWe conducted a retrospective cohort study of US Veterans diagnosed with a pancreatic cyst 1999–2013, based on International Classification of Diseases, 9th edition (ICD9) coding within national Department of Veterans Affairs (VA) data. Pancreatic cancer incidence was ascertained using VA cancer registry data, ICD-9 codes, and the National Death Index, a national centralized database of death records, including cause-specific mortality.ResultsAmong 7211 Veterans with pancreatic cysts contributing 31,501 person-years of follow-up (median follow-up 4.4 years), 79 (1.1%) developed pancreatic cancer. A total of 1982 patients (27.5%) died during the study follow-up period. Sixty-three patients (3.2% of deaths; 0.9% of pancreas cyst cohort) died from pancreatic cancer, but the leading causes of death in the cohort were non-pancreatic cancer (n = 498, 25% of deaths) and cardiovascular disease (n = 398, 20% of deaths).ConclusionsPancreas cancer incidence and pancreatic cancer-associated mortality are very low in a large national cohort of VA pancreatic cyst patients with long-term follow-up. Most deaths were from non-pancreas cancers and cardiovascular causes, and only a minority (3.2%) were attributable to pancreas cancer. Given death from pancreas cancer is rare, future research should focus on identifying criteria for selecting individuals at high risk for death from pancreatic cancer for pancreatic cyst surveillance.

Familial Gullo’s Syndrome: a clinical case report

This case report describes a male patient born in 1953 presenting an occasional increase in serum amylase and lipase forty years ago. The monitoring of enzymes was accompanied by radiological investigations, which did not reveal pancreatic pathology. In his family, including 10 siblings, half were carriers of this isolated anomaly; multiple cysts in pancreas, kidneys, and liver were present in some family members, in addition to a pancreatic neoplasia in a sister who did not carry the enzymatic abnormality. Our patient developed colon adenocarcinoma at the age of 67.Here we examine the characteristics of non-pathological chronic pancreatic hyperenzymemia defined as such by the main Italian pioneer Professor Gullo.

ОСОБЕННОСТИ ДИАГНОСТИКИ И ЛЕЧЕНИЯ ПАНКРЕАТИКОПЛЕВРАЛЬНЫХ СВИЩЕЙ

The analysis of features of diagnosis and treatment of pancreaticopleural fistulas according to the materials of publications and own clinical observation of a 44-year-old patient with fistula between a false pancreas cyst and both pleural cavities is presented. Diagnosis in the debut of this disease was complicated by the prevalence of pleural pulmonary pathology, lack of characteristic clinical signs of pancreatic lesion and lack of references to them in the anamnesis. The sudden color change of pleural exudates from straw yellow to red-brown and comparison of the results of blood serum and pleural fluid analysis for amylase content allowed suspecting pancreatogenic origin of bilateral hydrothorax, which served as a basis for instrumental examination of the pancreas. The nature and prevalence of the process in the pancreas, abdominal cavity and the presence of pancreaticopleural fistula with bilateral hydrothorax were established by ultrasound and multispiral computer tomography of the thoracic and abdominal cavities; specification - by magnetic resonance imaging in the modes of T1-BI, T2-BI and magnetic resonance cholangiopancreatography(MRCP). Conservative treatment of acute inflammation of the pancreas in combination with puncture method of sanation of pleural cavities led to the elimination of pancreatic pleural fistula and bilateral hydrothorax. The choice of the method for the rehabilitation of pleural cavities should be justified by the nature, volume, rate of exudates accumulation and its infection. Magnetic resonance cholangiopancreatography (MRCP) is being used routinely to determine the expediency, possibility and the choice of method and volume of surgical treatment of pancreas pathology.

Clinical Study of Pseudo Cyst of Pancreas

Clinical Study of Pseudo Cyst of Pancreas

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease

Inherited germline mutations in the VHL gene cause predisposition to Von Hippel-Lindau (VHL) disease. Patients exhibit benign and cancerous lesions in multiple tissues, including hemangioblastomas, clear cell renal cell carcinoma, cysts in kidneys and pancreas, and pheochromocytomas. Although pathogenic germline mutations in the VHL gene have been widely described in different populations, only a single mutation was previously reported in a family from mixed Arab-Persian ethnicity. Here, we present five Arab patients with two new and two recurrent germline mutations in the VHL gene. These mutations include three in-frame deletions and a missense mutation. Infrequent in-frame deletions in previously described patients from other populations, as well as the presence of new mutations, suggests a distinct spectrum of VHL gene mutations in Arab patients. While pulmonary manifestation has been described rarely in VHL disease, we have identified two patients with a recurrent p.Phe76del in-frame deletion exhibiting multiple nodules in lungs. We also describe a first-ever in-frame deletion in the VHL gene in a patient with VHL type 2C disease, exhibiting bilateral pheochromocytoma. Overall, the study provides an insight into the genotype-phenotype relationship of VHL disease in Arab patients and provides a comparison with previously described patients from other ethnicities.

SUN-458 A rare case of familial blindness and renal failure - Von Hippel Lindau syndrome

Von Hippel Lindau (VHL) is an autosomal dominant familial cancer predisposition syndrome with multitude of benign and malignant multivisceral tumors. We intend to present one such case with familial blindness and renal failure who never got evaluated for her blindness. 42 yr old lady presented with intermittent abdominal pain located in lumbar region, on probing for any other history in past or present she gave history of childhood episode of painless blindness in her left eye, which clinically appeared to be normal. Her family history revealed bilateral blindness in her father and brothers and death due to chronic kidney disease at young age in her younger sister. Her MRI reports revealed Bilateral simple cysts in kidneys along with few cysts in pancreas also showed complex cysts at lower pole of both kidneys Bosniak 3/4. Her occular examination revealed left phthisis bulbi possibly due to retinal heminangiomas. Her family members were examined which revealed retinal hemangiomas and bilateral cystic kidney disease consistent with the familial syndrome. To prove the association of all clinical findings complete gene Exome mapping for the patient was done which confirmed Heterozygous mutation in Gene VHL + on Exon 2 confirming the diagnosis of Von Hippel –Lindau syndrome Complete gene Exome mapping for the patient was done which confirmed Heterozygous mutation in Gene VHL + on Exon 2 confirming the diagnosis of Von Hippel –Lindau syndrome A familial disease has led to familial blindness and renal failure probably due to renal cell carcinoma in the family, lack of conclusive diagnosis and genetic counseling has led to unfortunate early death of family members.