Role of neonatal cerebrospinal fluid cytology in correlation to C-reactive protein, blood culture, risk factors and clinical outcomes in neonatal intensive care.

Introduction: The number of neonatal cerebrospinal fluid (CSF) samples sent from the neonatal intensive care unit (NICU) for cytologic examination is rising, warranting accurate analysis and interpretation of the same. This study was taken up to assess the usefulness of CSF cell count and cytology in NICU settings, as it can be used even in a resource-limited setting. Aim and Objective: 1) To study the prevalence of cell count and cytologic changes in CSF from NICU and assess their usefulness in correlation to C-reactive protein, CSF neutrophil percentage, blood, CSF culture, and other biochemical parameters. 2) To correlate cell counts and cytology with age, period of gestation, presence, and absence of sepsis, seizures, intracranial hemorrhage, and their clinical follow-up. Materials and Methods: A retrospective study was done on neonatal CSF samples submitted for cytology over one year (January-December 2016) in the Department of Pathology. CSF cell counts were retrieved, and cytosmears were reviewed for cellularity, cell type, proportion, and background and correlated with the biochemical, microbiological, and clinicoradiological findings. Results: A total of 213 samples were included with 140 males and 73 females with an age range of 0-28 (mean: 7.3) days. The mean CSF cell count was 5.48/cu.mm (0-90 cells/cu.mm). The most frequent cytologic finding was occasional lymphocytes or acellular CSF (63.9%). The CSF leucocyte count and protein levels showed a significant correlation with s C-reactive protein. The CSF cytology showed a significant correlation between the age of the neonate and blood neutrophil percentage (P = 0.0158). History of intracranial hemorrhage showed a significantly higher frequency of the presence of red blood cells (P = 0.0147). Conclusion: Accurate cell counts, cytology of neonatal CSF, and biochemical and microbiological workup can help diagnose and manage neonates in intensive care.

A comprehensive overview on Micro RNA signature in type 2 diabetes Mellitus and its complications.

MicroRNAs (miRNAs) are small endogenous, non-coding RNA molecules that can modulate the expression of their target genes. Since its discovery, an enormous breakthrough has been established regarding its biogenesis and pathophysiological action, which has revolutionized the field of molecular biology. In addition, recent studies have identified the existence of stable extracellular/circulating miRNAs tissues and in biological fluids like blood where they are safeguarded from endogenous ribonuclease activity. Type 2 diabetes mellitus (T2DM) has emerged as a prime health issue worldwide. Incidence has increased considerably over the past decade. There are various tests that have been employed to diagnose T2DM. But for early detection and development, the establishment of biomarkers are of paramount importance. Contemporary evidence also validates the signature of a set of this epigenetic factor miRNA in the development of various diseases, including T2DM. This article reviews the contemporary corroboration associating miRNAs and T2DM and emphasizes the potential role of miRNA as a circulatory biomarker that could alert the growing prevalence of T2DM. Also, it acknowledges the valuable compendium of information regarding biogenesis and functional role of circulating miRNA in insulin resistance which is intimately linked to T2DM. Supplementary Information: The online version contains supplementary material available at 10.1007/s12291-022-01069-1.

Effect of night shift on development of metabolic syndrome among health care workers.

Circadian desynchronization, sleep deprivation, changes in eating habit, and lack of physical activity resulting in an increase in pro-inflammatory markers in night shift health care workers is associated with various risk factors for the development of metabolic syndrome. This study aimed to estimate the pro-inflammatory markers in night shift work and find its relationship with different criteria of metabolic syndrome. Materials and Methods: A total of 303 participants were recruited for the study. Demographic data and parameters pertaining to the development of metabolic syndrome were taken. Highly sensitive C-reactive protein (Hs CRP) as proinflammatory marker was analyzed. Fasting blood sugar (FBS), serum triglyceride (TG), and high-density lipoprotein (HDL) were estimated. Criteria for metabolic syndrome were taken according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) guidelines. Results: Night shift workers had higher hs CRP compared to day shift workers. TG and FBS were increased significantly (P < 0.001). A total of 6.5% of the night shift workers had a waist circumference greater than 40 inches. It was observed that night shift workers with higher hsCRP had significantly high waist circumference (P < 0.001) and FBS (P < 0.05). A total of 3.57% of the night shift workers were diagnosed with metabolic syndrome with three criteria positive. Conclusion: Night shift work is associated with an increase in pro-inflammatory markers and the development of risk factors leading to metabolic syndrome. Thus, early screening and management of risk factors among night shift health care workers may improve their health status and prevent the development of MS.

Urinary MMP-7: A Predictive, Noninvasive Early Marker for Chronic Kidney Disease Development in Patients with Hypertension.

OBJECTIVE: Upregulation of matrix metalloproteinase-7 (MMP-7) is associated with hypertension and kidney fibrosis, which can progress to chronic kidney disease (CKD). Currently, kidney fibrosis is only detectable by an invasive procedure. Therefore, we set out to determine whether MMP-7 can act as a noninvasive biomarker in patients with hypertension to enable early detection of kidney fibrosis. MATERIALS AND METHODS: Diagnosed patients with hypertension and control patients were sampled. We diagnosed CKD using clinical and laboratory parameters. Serum urea, creatinine, urinary microalbumin, the albumin-to-creatinine ratio, and urinary MMP-7 were analyzed. RESULTS: The 195 patients with hypertension had significantly elevated MMP-7. Of these patients, 166 had MMP-7 >25.8 µg/L, whereas only 29 had MMP-7 <25.8 µg/L. Thirty-two patients with hypertension showed features of CKD, all of whom had urinary MMP-7 >25.8 µg/L. However, the urinary MMP-7 level did not differ with the severity of CKD or with the duration of hypertension. CONCLUSION: Elevated urinary MMP-7 can be a potential noninvasive, early indicator in patients with hypertension progressing to CKD, thus enabling early therapeutic intervention.

Immunoinformatics and molecular docking studies reveal a novel Multi-Epitope peptide vaccine against pneumonia infection.

Pneumonia is a major endemic disease around the world, and an effective vaccine is the need of the hour to fight against the disease. When there are no appropriate antiviral and associated therapies available, vaccine development becomes even more essential. Therefore, in the present study, a variety of immunoinformatics techniques was utilized to develop a novel multi-epitope vaccine that targets the highly immunodominant type 3 fimbrial protein of Klebsiella pneumoniae, the causal organism for pneumonia. The putative B and T cell epitopes were predicted from the protein and screened for antigenicity, toxicity, allergenicity, and cross-reactivity with human proteomes. Subsequently, the selected epitopes were joined with the help of linkers to form a robust vaccine construct. In addition, an adjuvant was applied to the N-terminal of the construct to improve the immunogenicity of the vaccine. The physicochemical properties, solubility, the secondary and tertiary structure of the final vaccine were also established. MD simulations for 100 ns were employed to assess the stability of the vaccine-TLR-2 docked complex. The final vaccine was optimized and cloned in pET28a (+) vector with His-tag to achieve maximum vaccine protein expression for ease of purification. Immune simulation results indicated the potency of this vaccine candidate as a probable therapeutic agent. In conclusion, the overall results of various immunoinformatics tools and methods employed revealed that the constructed multi-epitope vaccine exhibits a high potential for stimulating both B and T-cells immune responses against pneumonia infection. However, experimental immunological studies are required to corroborate the viability of the novel multi-epitope construct as a commercial vaccine.

Is data mining approach a best fit formula for estimation of low-density lipoprotein cholesterol?

BACKGROUND: With the change in the National Cholesterol Education Program ATP III guidelines, the risk of developing atherosclerosis has been now focused on total cholesterol and low-density lipoprotein (LDL) cholesterol levels. Different treatment modalities are now targeted at lowering LDL cholesterol values. Hence greater emphasis is now led on the accurate and precise measurement of LDL cholesterol. Beta-quantification, though, is the best reference method for LDL cholesterol estimation, it has the disadvantage of being inconvenient in our routine practice. The new generation direct homogenous assay is now the method of choice. But being more expensive, various calculated methods have now been developed. This study is an attempt to compare different calculated formula with direct cholesterol assessment and to find out the best one. MATERIALS AND METHODS: We compared LDL cholesterol measured by direct homogenous assay with the data mining approach (DM) and another calculated formula [Friedewald's Formula (FF) and Anandaraja Formula (AF)] in 266 samples with age greater than 18 years. Enrolled participants were divided into seven groups based upon their TG levels. Mean, percentage difference, and the correlation coefficient was assessed between calculated and direct LDL. Bland-Altman analysis was done to see the agreement between calculated vs direct LDL. All formulas were assessed among various TG levels with direct LDL by the Wilcoxon sign rank test. RESULT: 1% level of significance was found between calculated and direct LDL with TG < 600 mg/dl. Mean and the percentage difference between direct and calculated LDL was lowest with the DM approach. Bland-Altman plot shows the best agreement of the DM approach with direct LDL. CONCLUSION: This study indicates that the DM approach is closer to direct LDL compared to FF & AF.

Serum Uric Acid in Chronic Obstructive Pulmonary Disease: A Hospital Based Case Control Study.

INTRODUCTION: Airway inflammation and imbalance between oxidant/anti-oxidant mechanisms are postulated to play a major role in the pathogenesis and exacerbation of Chronic Obstructive Pulmonary Disease (COPD). Previous studies on the role of serum Uric Acid (UA) in COPD subjects have been both confounding and inconclusive. AIM: To measure the serum UA levels among COPD subjects and to correlate with different stages of the disease. MATERIALS AND METHODS: The study included 39 stable COPD subjects (21 males, 18 females; 13 smokers, 26 nonsmokers; age group; 40 to 60 years) and compared with 46 control subjects from the general population. Serum UA levels were measured by enzymatic colorimetric assay in fully automated analyser (Cobas Integra 400+, Roche, Germany) using commercially available kits from Roche. This was further correlated with duration and severity of COPD {determined as per Global Initiative for Obstructive Lung Disease (GOLD) criteria}. RESULTS: The mean age of COPD and control subjects was 62.97±11.30 and 48.76±12.71 years, respectively (p<0.001). COPD cases had significantly higher level of UA compared to control subjects (4.85±1.67 vs. 2.32±0.93 mg/dl, respectively, p<0.001). Female subjects with COPD had higher levels of UA compared to their male counterparts (5.15±1.89 vs. 4.59±1.45 mg/dl, respectively, p=0.3). Similar insignificant (p=0.56) trend was also observed among control subjects. Hyperuricaemia correlated significantly (p< 0.05) with advance duration (≥ 10 years) of COPD; whereas, statistically insignificant trend was observed for GOLD stage 3/4 versus stage 1/2 disease. Nonsmokers were having higher uric acid level than smokers. Alcohol intake did not affect the level of uric acid in COPD cases (p=0.79). CONCLUSION: Serum uric acid is a simple, cost effective biochemical test which may be useful in risk stratification of subjects with newly diagnosed chronic obstructive pulmonary disease. Hyperuricaemia is associated with advance duration and stage of COPD.

Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review.

BACKGROUND: Cutaneous hyperpigmentation is an often overlooked clinical sign in megaloblastic anemia (MA) which has been sporadically reported in the literature. METHODS: We describe the bone marrow (BM) changes and clinicolaboratory characteristics of 25 of 198 adult cases (>16 years) with cutaneous hyperpigmentation who underwent BM evaluation for cytopenia (s). RESULTS: Twenty-one of 25 cases (84%) had MA, while MA without hyperpigmentation occurred only in 12 of remainder 173 cases (P<0.001). Knuckle pad hyperpigmentation (KP) was noted in 16 (64%) cases; whereas 9 (36%) had diffuse brownish black discoloration (DP) of the palms and/or soles. Eighteen of 25 (72%) cases had pancytopenia (13 with KP) and 7 of 25 (28%) had bicytopenia (3 with KP). In addition, five cases (20%) presented with pyrexia. Of the 17 cases where data available, eleven were B12 deficient [<190 pg/ml; eight had severe deficiency (<100 pg/ml); ref.; 190-800pg/ml], while 4 had pure folate deficiency (< 4.0 ng/ml; ref.; 4-20ng/ml); and remainder 2 had combined B12 and folate deficiency. Compared to those with diffuse pigmentation; KP group had lower Hb (69.6 ± 24.2 vs. 86.3 ± 33.9 g/L), higher MCV (106.1 ±12.6 vs. 99.2 ± 7.6 fL), lower platelet count (50.9 ± 29.3 vs. 69.6 ± 36.5 × 10(9)/L), and lower median B12 [100.0 (30.0 - 822.0) vs. 316.0 (142.0 - 1617.3) pg/ml] (P>0.05). In six cases where follow-up data were available, there was a significant reversal of hyperpigmentation at 12 weeks following parenteral cobalamin therapy. In all five cases with pyrexia, fever subsided after 24 to 72 hours following administration of parenteral cobalamin therapy. CONCLUSION: Cutaneous hyperpigmentation and cytopenia (s) are strongly associated with megaloblastic anemia. Knuckle pad hyperpigmentation is much more frequent than diffuse pigmentation of the palms and/or soles in such patents. A nonsignificant trend towards a greater degree of MA was found in cases with pigmentation of the knuckles.

A comparative study of serum aminotransferases in chronic kidney disease with and without end-stage renal disease: Need for new reference ranges.

BACKGROUND: Hepatic diseases are common among chronic kidney disease patients and liver function tests particularly serum liver enzymes play an important role in diagnosing and monitoring these patients. Serum aminotransferase levels commonly fall near the lower end of the range of the normal values in patients of chronic kidney disease (CKD). High-levels of serum alkaline phosphatase (ALP) can occur in these patients due to renal osteodystrophy. Thus, the recognition of liver damage in these patients is challenging. AIM: To compare the levels of serum aspartate aminotransferase (AST), alanine aminotransferase (ALT) and ALP among three groups - CKD patients without end stage renal disease (ESRD), patients with ESRD and healthy controls. MATERIALS AND METHODS: A retrospective, hospital-based study was carried out from 100 patients' records from each group and serum AST, ALT and ALP values were noted. RESULTS: Our study showed that serum AST and ALT levels were significantly lower in CKD patients both without and with ESRD compared to controls. Further, these two enzyme levels were also significantly lower in CKD patients with ESRD compared to CKD patients without the condition. Serum ALP levels were significantly higher in patients with and without ESRD as compared to the controls. However, the values did not differ significantly between patients with and without ESRD. CONCLUSION: Levels of serum aminotransferases were low in CKD with and without ESRD and the levels become lower as the severity of CKD increases. Thus, the study established the need for separate reference ranges of serum aminotransferase in different stages of CKD.

Papillary thyroid carcinoma and subclinical thyrotoxicosis: Brief insight into the thyroid regulators other than thyroid stimulating hormone.

Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. It usually develops in euthyroid patients with history of long standing Hashimoto's thyroiditis. Here, we describe the development of PTC in a seronegative patient with subclinical thyrotoxicosis. We suggest that any cold nodule having high-risk features on ultrasonography in hyperthyroid patients should be thoroughly evaluated for the possibility of a thyroid malignancy and the possible role of nonthyroid stimulating hormone regulatory molecules, in thyroid carcinogenesis needs to be further explored.

Hemophagocytic lymphohistiocytosis: critical reappraisal of a potentially under-recognized condition.

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, potentially life threatening, hyper inflammatory syndrome of diverse etiologies. Cardinal signs include prolonged fever, organomegaly, and persistent unexplained cytopenias. In spite of the well known diagnostic criteria put forth by HLH society, this continues to pose great diagnostic challenge in both pediatric and adult intensive care settings. We describe 4 adult (2 males, 2 females, aged 19, 29, 40, and 17 years) and 3 pediatric (2 males, 1 female, aged 1 month, 6 months, and 12 years) patients with secondary HLH who satisfied the HLH-2004 diagnostic criteria. Definite evidence of hemophagocytosis was noted in 4 patients on initial bone marrow examination. The underlying etiologies were as follows: Rickettsia tsutsugamushi (case 1), autoimmune disorder (case 2), systemic onset juvenile idiopathic arthritis (sJIA) (case 3), unknown bite (possibly a venomous snake) (case 4), Plasmodium vivax (case 5), Cytomegalo virus (case 6), and Mycobacterium tuberculosis (case 7). In one patient, hemophagocytosis was presumed to have been exacerbated by administration of granulocyte monocyte colony stimulating factor (GMCSF) for severe neutropenia. Two patients died with disseminated intravascular coagulation (DIC) and multi organ failure within few days of HLH diagnosis. Immunosuppressive therapy was started in 3 patients, and etoposide was started in one patient only. Due to lack of specificity of diagnostic criteria, diagnosing and differentiating HLH from its closest mimickers like sepsis/septic shock may be quite challenging in critically ill patients. Therefore, increasing awareness among physicians is essential for early diagnosis and effective therapy to reduce the mortality.

Isolated deletion of the long arm of chromosome 20 [del(20q12)] in myelodysplastic syndrome: a case report and literature review.

Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.

Factitious Biochemical Reports which are Caused Due to Paraproteinaemia in Multiple Myeloma - A Case Report.

Factitious biochemical reports result in the misguiding of clinicians, unnecessary retesting, wrong diagnoses and incorrect treatments. A vigilant biochemist identifies these factitious biochemical reports and alerts the clinician regarding the proper interpretation of the biochemical reports, thus preventing a misdiagnosis and an incorrect treatment. We are presenting a case report of a multiple myeloma patient who presented with factitious biochemical reports which were caused due to paraproteinaemia. In the present case, the patient presented with an underestimation of urea and creatinine, an underestimation of sodium, low albumin levels and high phosphate levels. On repeating the same tests after dilutions and deproteinizing, the effects of the paraproteins on the above mentioned tests were reduced. Thus, from the observations of our study, we suggest that the interference by paraproteinaemia can be reduced by analyzing the biochemical parameters after dilution and deproteinization.

Pancreatic extragastrointestinal stromal tumors, interstitial Cajal like cells, and telocytes.

CONTEXT: The discovery and subsequent ultrastructural characterization of the interstitial Cajal like cells (now called telocytes) in virtually every anatomic sites of the human body, by Laurentiu M Popescu and co-workers, have dramatically improved the understanding the function of these cells and pathogenesis of extragastrointestinal stromal tumors (EGIST). Pancreatic extragastrointestinal stromal tumors (pEGIST), phenotypically similar to pancreatic interstitial Cajal like cells, are extremely rare with an unpredictable biological behavior. OBJECTIVE: To review the clinicopathological, radiological, immunohistochemical, and therapeutic outcome data of all reported cases of pEGIST, and highlight the developments in the field of pancreatic interstitial Cajal like cells/telocytes. METHODS: A systematic review of English literature (January 2000 to July 2012) was done by using the search engine of PubMed, PubMed Central, Google Scholar, and the Directory of Open Access Journals. RESULTS: There have been 19 reported cases of pEGIST during the last decade, over an age range of 31 to 84 years (mean: 56 years) with equal gender predilection ((male:female ratio: 9:10). Preoperative radiological characteristics have been mostly nondiagnostic though these were used, in some, for tissue diagnosis. Majority of pEGIST were localized to pancreatic head (8/19, 42.1%), and 15 of 19 patients (78.9%) were symptomatic at first presentation. The mean size ranged from 2.5 to 35cm (mean: 14 cm). Histomorphological features were that of predominantly spindle cell tumor which consistently expressed c-KIT/CD117 and CD34 by immunohistochemistry, making these two as the most sensitive markers at this site. RESULTS: from studies involving discovery on gastrointestinal stromal tumor 1 (DOG-1), the most specific biomarker of GIST/EGIST, has been inconclusive and this was found to be positive in one case only. Neoadjuvant chemotherapy with imatinib mesylate and sunitinib were used in few cases, and genetic analysis of c-KIT proto-oncogene was done in two. By univariate analysis, none of the clinicopathological parameters, except surgical resection with microscopic free margin (R0 resection) (P<0.05), were found to be an important indicators of outcome. CONCLUSION: The biological behavior of pEGIST, at present, seems unpredictable which requires indefinite period of follow-up. Large number of such cases with genetic analysis supplemented with immunohistochemistry studies will hopefully throw more light in these tumors.

Primary extra nodal non Hodgkin lymphoma: a 5 year retrospective analysis.

BACKGROUND AND AIM: The incidence of extra nodal non Hodgkin lymphoma (ENL) is rising throughout the world. However, data regarding ENL as a group is limited. The aim was to study the epidemiological and histomorphological trends of primary ENL (pENL) in India. MATERIAL AND METHODS: The biopsy materials from sixty eight patients with pENL (45 male, 23 female, M:F= 1.9:1), diagnosed over a five year period (2005-2009), were analysed and pathologically reclassified according to the World Health Organization (WHO) classification, 2008 criteria. RESULTS: Primary extra nodal non Hodgkin lymphomas constituted 22.0% (68/308) of all non Hodgkin lymphomas (NHL). The mean age at presentation for pENL and primary nodal NHL was 43 years and 58 years, respectively with a male predilection (M: F=2:1). Central nervous system (CNS) constituted the most common extranodal site (20/68, 29.5%) followed by gastrointestinal tract (17/68, 25%), and nose/nasopharynx (8/68, 11.8%). Diffuse large B-cell lymphoma (DLBCL, not otherwise specified), extranodal marginal lymphoma of mucosa associated lymphoid tissue (MALT) type, and B cell NHL unclassified (U) were the three most common histological types observed. T-cell phenotype was rarely noted (4%). Follicular lymphomas and anaplastic large cell lymphoma, seen among nodal NHL, were absent at extra nodal sites. Majority (41/68, 60%) of the patients with pENL were immunocompetent and 55% were in stage I-II with favorable prognosis. CONCLUSION: Central nervous system was the most common site of ENL, followed by gastrointestinal tract. Majority of pENL occurred in immunocompetent hosts with a favorable prognosis.

Serum high sensitivity C-reactive protein, nitric oxide metabolites, plasma fibrinogen, and lipid parameters in Indian type 2 diabetic males.

AIMS: Inflammation is postulated to play a role in diabetogenesis and its further vascular complications. The aim was to assess the inflammatory and lipid parameters in patients of type 2 diabetic mellitus with or without complication. MATERIAL AND METHODS: Serum high sensitivity C-reactive protein (hs-CRP), nitric oxide metabolite (NO(X)), fibrinogen, and lipid parameters were measured in eighty type 2 diabetic males (40-65 years) without (n=40, group B) and with complication (16 retinopathy, group C; 24 hypertension, group D); and compared with 40 healthy, age and sex matched nondiabetic males (group A) from the general population. RESULT: The mean age of subjects and fasting plasma glucose among groups A, B, and C+D were 51.0 ± 7.1 vs. 48.7 ± 5.7 vs. 50.2 ± 6.1 years (p>0.05); and 96.7 ± 10.4 vs. 134.3 ± 27.8 vs. 136.4 ± 29.8 mg/dl (p<0.001) respectively. Patients with retinopathy were older, with longer duration of diabetes, and high fasting plasma glucose (p<0.001). The mean hs-CRP, NO(X), fibrinogen, TC, TG, and LDL(C) varied significantly (p<0.001) between control and diabetics. hs-CRP, NO(X), and fibrinogen were found to be highest in retinopathy group whereas no significant (p>0.05) difference was noted between groups B and D in relation to hs-CRP and NO(X). TC and LDL(C) were significantly (p<0.001) high among group B patients. Significant positive correlation was observed between all three inflammatory markers in all categories of patients; between FPG, hs-CRP, and fibrinogen among patients with hypertension; between FPG, hs-CRP, and NO(X) in patients with retinopathy. However, none of the lipid parameters showed any significant correlation with any of the inflammatory markers in any group of patients studied. CONCLUSION: Low grade systemic inflammation, in association with dyslipidemia, plays a role in diabetogenesis and its complications.

A 10-year retrospective study of hemangioblastomas of the central nervous system with reference to von Hippel-Lindau (VHL) disease.

We aimed to analyze the clinical, radiological, surgicopathological and clinical outcome data of patients who underwent surgery for central nervous system (CNS) hemangioblastoma (HBL) with or without von Hippel-Lindau (VHL) disease. The clinico pathological and radiological findings, management and clinical outcome of patients with CNS HBL (operated between 2000 and 2009) were analyzed retrospectively. The differences between sporadic and VHL-associated HBL were analyzed. Forty-nine patients (28 male, 21 female) underwent surgery for CNS hemangioblastoma. Thirty-nine patients (80%) harbored sporadic HBL whereas 10 (20%) had VHL disease. The mean age at diagnosis for VHL-associated HBL was 32 years when compared to 40 years in sporadic HBL. The lesions were solitary in 41 patients and multiple in eight. The cerebellum was the most common site of HBL (35/49, 71%). Six patients with sporadic and two with VHL disease had spinal lesions. On imaging (available in 43/49 patients), a cyst with a mural nodule was the most common finding, seen in 16 patients (37.2%) whereas nine patients (21%) had solid and cystic lesions. Clinical presentation, radiological features, and histomorphology of HBL with or without VHL disease were similar. Multiple cysts in the pancreas, kidney, broad ligament, epididymis, clear cell renal cell carcinoma, phaeochromocytoma and retinal angiomas were the visceral manifestations seen in patients with VHL disease. Of all patients with VHL disease, three required multiple surgeries for new lesions and one died of renal failure and sepsis. Among the patients with sporadic disease (31/39), two died of surgical complications, one died of postoperative sepsis, three were lost to follow-up and the remainder had resolution of symptoms at 1year following surgery. We concluded that the diagnosis of VHL disease is important as management is more difficult and lifelong follow-up and counseling are required in these patients and for their at-risk relatives.