Underreported Disease Research Articles

Epidemiology of human and animal leptospirosis in Kenya: A systematic review and meta-analysis of disease occurrence, serogroup diversity and risk factors.

Leptospirosis is a priority zoonotic disease in Kenya, but an in-depth review of its presence in humans, animals and the environment is lacking. Therefore, we conducted this systematic review and meta-analysis to understand the epidemiological situation to date. We searched for literature in African journals online, AGRIS, Embase, the Leptospira WOAH reference laboratory library, ProMED-mail, PubMed, Scopus, Web of Science, and the institutional repositories of 33 academic institutions and included 66 publications on leptospirosis in Kenya which spanned from 1951 to 2022. The review was registered on the International Platform of Registered Systematic Review and Meta-analysis Protocols (INPLASY). Most investigations were done in rural and urban areas in western, southern, central, and coastal areas in Kenya and the largely pastoral eastern and northern areas were under-represented. A wide host range of domestic animals and wildlife was revealed, and occupational exposure was an important risk factor for humans. The microscopic agglutination test (MAT) was the most frequent test, particularly common in studies conducted during the 1980s and 1990s. However, varying MAT panels and cut-off titres were observed. The overall seroprevalence in cattle was 28.2% (95% confidence intervals [CI]: 12.0-53.0; heterogeneity: I2 = 96.7%, τ2 = 1.4), and 11.0% in goats (95% CI: 5.4-21.2; heterogeneity: I2 = 78.8%, τ2 = 0.4). Molecular tests were seldom used to determine species and illustrate strain diversity. There was a lack of awareness of leptospirosis among farmers and health practitioners. The widespread presence of leptospires and inadequate diagnostic capacity demonstrate that leptospirosis is a common but underreported disease in Kenya. Raising awareness and boosting the country's diagnostic capacity is crucial to timely detection and disease control.

Evaluation of medical professionals’ knowledge about Q fever

Aims: evaluate the medical professionals’ knowledge about Q fever, seeking integrative contributions to public health that may favor the formulation of policies and the development of strategies based on a One Health approach. Methods: this is a cross-sectional and quantitative study with data collection through a structured questionnaire applied face-to-face to physicians from various clinical specialties working at the three levels of health care in Brazil. The questionnaire consisted of 25 questions, seven of which were specific to assessing knowledge about Q fever. Univariate and multivariate logistic regression analyses were conducted to assess whether the variables medical specialty, level of health care in which they work, age range and gender were associated with a correct answer to at least one specific question about Q fever. Results: among the 254 physicians included, 236 (92.9%) were unaware of Q fever. Only three (16.6%) of the 18 who correctly answered at least one specific question about the disease had a score of more than 50%. The highest rates of correct answers for at least one question (p < 0.0001) occurred among the medical specialties most related to clinical signs and symptoms or the differential diagnosis of Q fever and among males. It is highlighted that 85.8% of physicians consider Q fever a neglected and underreported disease in Brazil. Additionally, all physicians responded that they were not aware of the One Health approach. Conclusions: the almost total lack of knowledge among medical professionals regarding Q fever reinforces the need for greater disclosure for this zoonosis with a One Health approach in Medical Schools, in Residency Programs and for physicians in general. In addition, the inclusion of Q fever in the national list of notifiable diseases becomes relevant, allowing a better understanding of its epidemiological situation in Brazil. Finally, effective public health actions must be carried out to avoid underdiagnosis and the development of severe cases of the disease. Methods: this is a cross-sectional and quantitative study with data collection through a structured questionnaire applied face-to-face to physicians from various clinical specialties working at the three levels of health care in Brazil. The questionnaire consisted of 25 questions, seven of which were specific to assessing knowledge about Q fever. Univariate and multivariate logistic regression analyses were conducted to assess whether the variables medical specialty, level of health care in which they work, age range and gender were associated with a correct answer to at least one specific question about Q fever. Results: among the 254 physicians included, 236 (92.9%) were unaware of Q fever. Only three (16.6%) of the 18 who correctly answered at least one specific question about the disease had a score of more than 50%. The highest rates of correct answers for at least one question (p < 0.0001) occurred among the medical specialties most related to clinical signs and symptoms or the differential diagnosis of Q fever and among males. It is highlighted that 85.8% of physicians consider Q fever a neglected and underreported disease in Brazil. Additionally, all physicians responded that they were not aware of the One Health approach. Conclusions: the almost total lack of knowledge among medical professionals regarding Q fever reinforces the need for greater disclosure for this zoonosis with a One Health approach in Medical Schools, in Residency Programs and for physicians in general. In addition, the inclusion of Q fever in the national list of notifiable diseases becomes relevant, allowing a better understanding of its epidemiological situation in Brazil. Finally, effective public health actions must be carried out to avoid underdiagnosis and the development of severe cases of the disease.

The enigma of sickle cell hepatopathy: Pathophysiology, clinical manifestations and therapy.

Sickle cell disease (SCD) is one of the most common genetic disorders in the world predominantly affecting economically disadvantaged populations. There is a notable discrepancy between the growing adult SCD population and available diagnostic and therapeutic interventions for SCD. Sickle cell hepatopathy (SCH) is an all-inclusive term to describe the acute and chronic liver manifestations of SCD. The pathophysiology of SCH follows no defined pattern or sequence that poses challenges to clinicians and researchers alike. Evidence is lacking for this underreported disease at various levels from diagnostic to therapeutic options. This paper reviews the basic pathophysiology, clinical features, biochemical and radiological findings of various SCH manifestations and outlines the management of each condition. Old and new therapy options in SCD including hydroxyurea, red blood cell exchange transfusion, ursodeoxycholic acid, voxelotor, l-glutamine and crizanlizumab have been reviewed to investigate the role of these options in treating SCH. The role of liver transplant, haematopoietic stem cell transplant and gene therapy in SCH patients have been reviewed.

An overview of monkeypox: let’s be aware of the emerging yet underreported disease

An overview of monkeypox: let’s be aware of the emerging yet underreported disease

Notification of hand eczema as an occupational disease among Danish hairdressers: a national survey on patients’ perception

ObjectivesSelf-reported hand eczema was previously found under-reported as an occupational disease to the authorities among Danish hairdressers graduating from 1985 to 2007. This study investigates whether self-reported hand eczema among...

Coxiella burnetii seroprevalence in domestic goat does in the United States: Prevalence, distribution, and associated risk factors

Infection with the bacterium Coxiella burnetii can cause coxiellosis in animals and Q fever in humans. Coxiellosis a consistently underreported infectious disease. The infection can result in reproductive consequences for humans and animals. Ruminants are a reservoir for infection and humans are generally infected via aerosolized secretions, making it a public health concern. Studies of ruminant seroprevalence are generally limited in size and scope. This study determined seroprevalence in a large-scale U.S. population of female goats using serum samples from 7736 does from 24 states.This study identified C. burnetii seroprevalence in the United States domestic goat population. Overall, 14.5 % (SE = 2.3) of does were seropositive and 21.0 % (SE = 2.4) of operations had at least 1 seropositive doe.Further, operation demographics and herd management practices associated with seropositivity were as follows: the suspected or confirmed presence of caprine arthritis encephalitis (CAE), caseous lymphadenitis (CL), Johne’s disease, or sore mouth in the herd in the previous 3 years, not cleaning or disinfecting the kidding areas or removing aborting does from other does, allowing visitors to access the kidding areas, and a lower percentage of adult goat inventory that were adult bucks or wethers. Furthermore, goat breed was associated with seropositivity.These data show C. burnetii seroprevalence in the United States and identify operation and animal characteristics and management practices associated with C. burnetii seropositivity. Together, this information can be used to help limit animal transmission, inform public health measures, and help educate and protect individuals working with goats.

WhatsApp como ferramenta para identificação de doenças em ruminantes e equinos não diagnosticadas e subnotificadas em Mato Grosso do Sul

ABSTRACT: This study explores the use of WhatsApp as a tool for identifying previously undiagnosed and underreported diseases in ruminants and horses in Mato Grosso do Sul, Brazil. The research, carried out from January 2022 to December 2023, involved a WhatsApp group of 302 public service and private sector veterinarians. The contacts were categorized as those that resulted in a necropsy by the veterinary diagnostic laboratory, the sending of a sample for histopathological analysis, or the non-sending of material. The results demonstrate the efficiency of using WhatsApp for diagnosing underreported diseases such as anaplasmosis, haemonchosis, rabies, blackleg disease, Mannheimia haemolytica pneumonia, bovine herpesvirus encephalitis, multiple mineral deficiency in cattle and copper poisoning in sheep, thus increasing diagnostic efficiency for veterinary laboratories. The tool also facilitated communication, resulting in an increase in conclusive diagnoses, the identification of previously undiagnosed diseases such as Chlamydia pecorum encephalomyelitis in buffalo, peripheral neuropathy in cattle, phosphorus deficiency in cattle, vitamin A deficiency, and perinatal pneumonia caused by Salmonella enterica subsp. arizonae in cattle. In addition, it was possible to identify underreported occurrences, such as cases of abortion and neonatal diarrhea and to implement the correction of diagnostic approaches in real-time via WhatsApp. The study concludes that WhatsApp improves communication between field veterinarians and diagnostic laboratories, providing valuable information on disease occurrence and diagnostic challenges.

Idiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease.

Isolated adrenocorticotropic hormone deficiency (IAD) is considered to be a rare disease. Due to the nonspecific clinical presentation, precise data on the prevalence and incidence are lacking. In this systematic review, we aimed to analyse the clinical characteristics, association with autoimmune diseases, and management of acquired idiopathic IAD cases.A structured search was conducted after developing a search strategy combining terms for acquired (idiopathic) IAD. Articles describing an adult case with a diagnosis of ACTH deficiency using dynamic testing, no deficiency of other pituitary axes, and MRI of the brain/pituitary protocolled as normal, were included. Exclusion criteria were cases describing congenital IAD, cases with another aetiology for IAD, and articles where full text was not available.In total 42 articles were included, consisting of 85 cases of acquired idiopathic IAD. Distribution by sex was approximately equal (F:M; 47:38). Lethargy was the most common presenting symptom (38%), followed by weight loss (25%), anorexia (22%), and myalgia/arthralgia (12%). Eight cases (9.5%) presented with an Addison crisis. 31% of cases had an autoimmune disease at diagnosis of which Hashimoto hypothyroidism was the most frequent. Data about follow-up was scarce; dynamic testing was repeated in 4 cases of which 2 showed recovery of the adrenal axis.We report the largest case series of acquired idiopathic IAD to date. Our systematic review highlights the lack of a clear definition and diagnostic work-up. Based on the findings in this review a proposition is made for a flowchart to diagnose acquired idiopathic IAD.

COVISHIELD vaccine-induced thyroiditis: a case report

BackgroundThe rapid development of coronavirus disease 2019 vaccines during the pandemic has left their long-term effects largely unknown. Instances of autoimmune and subacute thyroiditis showing features of autoimmune/inflammatory syndrome induced by adjuvants have been reported post-vaccination. This case report aims to highlight the autoimmune/inflammatory syndrome induced by adjuvants syndrome after coronavirus disease 2019 vaccination, drawing attention to a possible connection with thyroid dysfunction and urging for further thorough research.Case presentationWe present a case of thyroiditis induced by the COVISHIELD vaccine in a 37-year-old Indian woman. An apparently normal and healthy adult woman developed neck pain and easy fatigability 2 weeks after the second dose of COVISHIELD, which gradually increased and was associated with irritability, decreased sleep, excessive sweating, tremor, palpitation, and weight loss. She presented to the outpatient department after 1 week of symptoms and was evaluated with laboratory tests and imaging. She was diagnosed with thyroiditis due to the coronavirus disease 2019 vaccine and was treated with propranolol.ConclusionThis case report adds to the growing evidence of coronavirus disease 2019 vaccine-related thyroid issues. The development of thyroiditis is rare and underreported post-coronavirus disease 2019 vaccination; hence, research to evaluate the association of coronavirus disease 2019 vaccines with thyroid dysfunction needs to be done in the future.

Deciphering the human antibody response against Burkholderia pseudomallei during melioidosis using a comprehensive immunoproteome approach.

The environmental bacterium Burkholderia pseudomallei causes the often fatal and massively underreported infectious disease melioidosis. Antigens inducing protective immunity in experimental models have recently been identified and serodiagnostic tools have been improved. However, further elucidation of the antigenic repertoire of B. pseudomallei during human infection for diagnostic and vaccine purposes is required. The adaptation of B. pseudomallei to very different habitats is reflected by a huge genome and a selective transcriptional response to a variety of conditions. We, therefore, hypothesized that exposure of B. pseudomallei to culture conditions mimicking habitats encountered in the human host might unravel novel antigens that are recognized by melioidosis patients. In this study, B. pseudomallei was exposed to various stress and growth conditions, including anaerobiosis, acid stress, oxidative stress, iron starvation and osmotic stress. Immunogenic proteins were identified by probing two-dimensional Western blots of B. pseudomallei intracellular and extracellular protein extracts with sera from melioidosis patients and controls and subsequent MALDI-TOF MS. Among B. pseudomallei specific immunogenic signals, 90 % (55/61) of extracellular immunogenic proteins were identified by acid, osmotic or oxidative stress. A total of 84 % (44/52) of intracellular antigens originated from the stationary growth phase, acidic, oxidative and anaerobic conditions. The majority of the extracellular and intracellular protein antigens were identified in only one of the various stress conditions. Sixty-three immunoreactive proteins and an additional 38 candidates from a literature screening were heterologously expressed and subjected to dot blot analysis using melioidosis sera and controls. Our experiments confirmed melioidosis-specific signals in 58 of our immunoproteome candidates. These include 15 antigens with average signal ratios (melioidosis:controls) greater than 10 and another 26 with average ratios greater than 5, including new promising serodiagnostic candidates with a very high signal-to-noise ratio. Our study shows that a comprehensive B. pseudomallei immunoproteomics approach, using conditions which are likely to be encountered during infection, can identify novel antibody targets previously unrecognized in human melioidosis.

Acquired idiopathic isolated adrenocorticotropic hormone deficiency: a descriptive systematic review of a heterogeneous and underreported disease

Acquired idiopathic isolated adrenocorticotropic hormone deficiency: a descriptive systematic review of a heterogeneous and underreported disease

Parvovirus in Kidney Transplant Recipients: A Single-Center Experience.

Parvovirus testing is not done in routine clinical practice; thus, it is possible that reported parvovirus cases are just the tip of the iceberg of total prevalence. We present a single-center retrospective analysis of 22 events of parvovirus B19 anemia in 20 renal transplant recipients, among which 2 patients had recurrence. For this descriptive analytical study, parvovirus B19 disease was defined as parvovirus infection (detection by real-time polymerase chain reaction) in the presence of anemia with clinical symptoms or bone marrow biopsy findings consistent with the diagnosis. Study duration was 18 months, from June 2021 through December 2022, and patients were enrolled from a single center. All patients detected with the virus had received induction with thymocyte globulin and were on standard triple drug immunosuppression. Mean age was 32 ± 12 years with median time to diagnosis of 2 months after transplant. Anemia was observed in all patients with mean hemoglobin level at presentation of 6.02 ± 1.28 g/dL. Creatinine at presentation was 1.49 mg/dL (interquartile range, 0.92-2.69 mg/dL). The most common presentation was asymptomatic patient with evaluation for anemia. During therapy, the highest median creatinine level was 2.0 mg/dL (interquartile range, 1.38-3.2 mg/dL), which was significantly higher than that at presentation (P < .018). After therapy, median creatinine level was 1.3 mg/dL, which was not significantly higher than the baseline level, demonstrating a mostly transient graft dysfunction. Parvovirus B19 is a relatively underreported disease in renal transplant recipients, with patients presenting with anemia and the disease causing transient graft dysfunction. Parvovirus B19 infection responds well to a decrease in immunosuppression and intravenous immunoglobulin therapy.

Pelvic Inflammatory Disease: updates from diagnosis to treatment

Pelvic inflammatory disease (PID) is a clinical syndrome caused by several microorganisms, mainly those related to sexually transmitted infections (STIs), which ascend the female genital tract towards the upper genital organs. It is a disease that affects young women, who have an active sex life and have a history of chlamydia, for example. Its clinical picture may be symptomatic, with pain in the lower abdomen being the main complaint, or in some cases the patient may be asymptomatic. The disease is confirmed by classifying the symptoms into major, minor or elaborate criteria, and by complementary laboratory and imaging tests. Its treatment can be outpatient or hospital, depending on the degree of symptoms and should be started as soon as possible, even empirically, using broad-spectrum antimicrobials. The importance of a quick diagnosis and treatment is due to the possible consequences that PID can cause, such as infertility. This literature review aims to disclose the causes and symptoms of the disease, which is one of the most important sexually transmitted infections, since the lack of a quick diagnosis and treatment, or even an inadequate treatment, increases the chances of complications for the women's health. This is a literature review on Pelvic Inflammatory Disease. A search was carried out for scientific articles in the databases Google Scholar, Scielo and indexed journals between the years 2020 to 2023, in Portuguese and English, with the following descriptors: Pelvic Inflammatory Disease, Sexually Transmitted Infections and Chlamydia trachomatis. Even though it is a condition that affects many young women, PID is an underreported disease, therefore, it is necessary to have more teaching about sex education, since the main cause of PID is STIs.

Rectal Urgency Among Patients With Ulcerative Colitis or Crohn's Disease: Analyses from a Global Survey.

Rectal urgency is a common but under-reported inflammatory bowel disease (IBD) symptom. The present study assessed the prevalence of rectal urgency and its association with disease activity and patient-reported outcomes (PROs) among patients with ulcerative colitis (UC) or Crohn's disease (CD) in a real-world setting. Data were drawn from the 2017-2018 Adelphi IBD Disease Specific Programme™, a multi-center, point-in-time survey of gastroenterologists and consulting adult patients with UC or CD in France, Germany, Italy, Spain, the United Kingdom, and the United States. Gastroenterologists completed patient record forms and patients completed self-reported forms. Analyses were conducted separately for patients with UC or CD. Patient demographics, clinical characteristics, disease activity, symptoms, and PROs were compared between patients with and without rectal urgency. In total, 1057 patients with UC and 1228 patients with CD were included. Rectal urgency was reported in 20.2% of patients with UC and 16.4% with CD. Patients with rectal urgency were more likely to have moderate or severe disease (UC or CD: P < .0001), higher mean Mayo score (UC: P < .0001), higher mean Crohn's Disease Activity Index score (CD: P < .0001), lower Short IBD Questionnaire scores (UC or CD: P < .0001), and higher work impairment (UC: P < .0001; CD: P = .0001) than patients without rectal urgency. Rectal urgency is a common symptom associated with high disease activity, decreased work productivity, and worse quality of life. Further studies are needed to include rectal urgency assessment in routine clinical practice to better gauge disease activity in patients with UC or CD.

Mathematical study of fractal-fractional leptospirosis disease in human and rodent populations dynamical transmission

In both industrialized and developing nations, leptospirosis is one of the most underdiagnosed and under-reported diseases. It is known that people are more likely to contract a disease depending on their employment habits and the environment they live in, which varies from community to community. The absence of global data for morbidity and mortality has contributed to leptospirosis' neglected disease status even though it is a life-threatening illness and is widely acknowledged as a significant cause of pulmonary hemorrhage syndrome. This study aims to examine the impact of rodent-borne leptospirosis on the human population by constructing and evaluating a compartmental mathematical model using fractional-order differential equations. The model considers both the presence of disease-causing agents in the environment and the rate of human infection resulting from interactions with infected rodents and the environment. Through this approach, the research investigates the dynamics and implications of leptospirosis transmission in the context of human-rodent interactions and environmental factors. We create a fractal-fractional model using the mittag-leffler kernel. The positivity and boundedness of solutions are first discussed. The model equilibria and fundamental reproduction number are then presented. With the use of the Lyapunov function method, the solutions are subjected to global stability analysis. The fixed-point theory is used to derive the fractional-order model's existence and uniqueness. Solutions are produced using a two-step Lagrange polynomial in the generalized form of the Mittag-Leffler kernel to explore the effect of the fractional operator with numerical simulations, which shows the influence of the sickness due to the effect of different parameters involved. Such a study will aid in the development of control strategies to combat the disease in the community and an understanding of the behavior of the Leptospira virus.

Leptospira Status in Sweden during the Past Century, Neglected and Re-Emerging?

We compiled data on notified cases of leptospirosis in animals and humans in Sweden. Published studies on leptospirosis in humans and animals from the beginning of the 20th century onwards are summarized. During the Second World War, hundreds of leptospirosis cases in humans were reported in Sweden, but since then, there have been only a few severe cases. Surveillance of leptospirosis in domestic animals demonstrates that the pathogen is still occurring. The occurrence of Leptospira in humans and animals in the other Nordic countries resembles that in Sweden. Leptospirosis is an underdiagnosed and underreported disease globally, both in animals and humans, partly due to the lack of simple, rapid diagnostic tools but possibly also due to the lack of awareness among physicians, veterinarians and nurses. Traditionally, leptospirosis has been mostly diagnosed by serology, but development of molecular methodshas improved the capability for correct diagnosis. As of today, leptospirosis is regarded as a relatively uncommon disease in the Nordic countries, but in some other countries, it is considered a neglected zoonosis or a (re-)emerging disease that may become more common in the future. Possible factors that could contribute to an increase in incidence are discussed in this review. Active surveillance of humans and domestic and wild animals and stringent rodent control in society and animal farms are of outmost importance for prevention.

Peyronie's Disease: A Brief Overview.

Peyronie's disease is an acquired connective tissue disease of the tunica albuginea of the penis which usually presents with penile curvature/deformity and a palpable penile plaque. It is more common in Caucasian men over the fifth decade of life, but it is an under-reported disease. Conservative and non-surgical options are supported by limited evidence except for intralesional injection of collagenase clostridium histolyticum and have limited success. The improved outcome of surgical treatment is accompanied by the risk of erectile dysfunction. This is a brief overview of Peyronie's disease, its impact on the patient, and the available treatment options.

CLINICAL PROFILE OF MELIOIDOSIS IN A TERTIARY CARE HOSPITAL IN KERALA

Background: Melioidosis also known as Whitmore's disease is an underreported infectious disease that is endemic to Thailand and parts of Australia. It is caused by the gram-negative bacterium Burkholderia psuedomallei and it has a varied clinical manifestation that can mimic common infections like Tuberculosis. To analyze the clinical presentation, Aims and Objectives: laboratory parameters and the treatment outcomes of all cases of Melioidosis presenting to a tertiary care hospital. A descriptive cross-sectional study was conducted using Methodology: the medical records of all culture proven patients of Melioidosis over a seven-year period from January 2016 to December 2022 There Results: were 14 males and 3 females in the series. All the patients had diabetes as a comorbidity, while 3 patients had chronic liver disease and 2 had chronic kidney disease. Majority of the patients presented as an acute febrile illness with either pulmonary involvement or abscess formation at different sites. Melioidosis is an underdiagnosed emerging infectious disease in Sout Conclusion: h Asia that can have a varied clinical presentation. It should be suspected in patients with acute febrile illness with either pulmonary involvement or abscess formation especially with a background history of diabetes mellitus

Associação entre refluxo vesicoureteral e anomalia do cromossomo 22 em anel - relato de caso

Vesicoureteral reflux (VUR) is characterized by retrograde urine flow, caused by impaired occlusion of the intramural portion of the ureter by contraction of the detrusor muscle during urination or secondary to altered bladder dynamics, ureteral obstruction and neuromuscular diseases, such as Phelans syndrome -McDermid. This syndrome is a rare and underreported disease, resulting from the formation of chromosome 22 in a ring and has VUR as its main urological manifestation. The objective of this study is to alert the medical community about one of the differential diagnoses in the VUR etiology, based on the case of a female patient, 4 years and 2 months old, referred to the Pediatric Surgery service of the Mário Covas State Hospital with recurrent infection of urinary tract associated with impaired renal function and bilateral VUR evidenced on cystourethrography. During investigation, the phenotypic findings encouraged the performance of a karyotype that confirmed the alterations found in Phelan-McDermid syndrome. VUR early diagnosis was essential to establish the appropriate therapy, which involved clinical and surgical approaches aimed at improving quality of life, preserving the renal parenchyma and preventing further future complications.

ASSOCIAÇÃO ENTRE REFLUXO VESICOURETERAL E ANOMALIA DO CROMOSSOMO 22 EM ANEL - RELATO DE CASO

Vesicoureteral reflux (VUR) is characterized by retrograde urine flow, caused by impaired occlusion of the intramural portion of the ureter by contraction of the detrusor muscle during urination or secondary to altered bladder dynamics, ureteral obstruction and neuromuscular diseases, such as Phelans syndrome - McDermid. This syndrome is a rare and underreported disease, resulting from the formation of chromosome 22 in a ring and has VUR as its main urological manifestation. The objective of this study is to alert the medical community about one of the differential diagnoses in the VUR etiology, based on the case of a female patient, 4 years and 2 months old, referred to the Pediatric Surgery service of the Mário Covas State Hospital with recurrent infection of urinary tract associated with impaired renal function and bilateral VUR evidenced on cystourethrography. During investigation, the phenotypic findings encouraged the performance of a karyotype that confirmed the alterations found in PhelanMcDermid syndrome. VUR early diagnosis was essential to establish the appropriate therapy, which involved clinical and surgical approaches aimed at improving quality of life, preserving the renal parenchyma and preventing further future complications.