Kidney Agenesis Research Articles

Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA): Case report

Background: Hemivaginal obstruction syndrome and ipsilateral renal anomalies are known as Herlyn-Werner-Wunderlich syndrome (HWWs) or better known by the acronym OHVIRA (Obstructed Hemivagina and Ipsilasteral Renal Anomaly). It occurs as a result of complete failure of the Müllerian ducts to fuse and accounts for about 5% of Müllerian duct anomalies. Initial manifestations usually appear as a result of secretions accumulating within the hemivaginal obstruction. Patients with HWWs can come with complaints of lower abdominal pain, severe dysmenorrhea, pelvic or vaginal mass, abnormal vaginal discharge, acute urinary retention, fever or vomiting. Therefore, careful diagnosis and appropriate management of this condition is desirable. The objective of the study was to report on the management of the obstruction due to HWWs. Case Report: A 12-year-old patient was admitted to the gynecology ward of Dr. M. Djamil Central General Hospital from polyclinic with abdominal pain since 4 months before being admitted to the hospital. The pain gets worse every day before menstruation and decreases when given painkillers. Bleeding from the vagina often recurs with blackish color, a little smelly since the 1 month ago. Conclusion: OHVIRA syndrome is a triad characterized by hemivaginal obstruction and agenesis of the ipsilateral kidney (OHVIRA) and uterus in the delphys. Clinical symptoms in general are cyclic dysmenorrhea, palpable mass due to accumulation of menstrual flow, and severe pelvic pain which can later develop into a persistent form as a result of prolonged retention of menstrual secretions, obstructed hemivagina. Management options are surgical resection of the obstructed vaginal septum and drainage.

Common Findings in Urinary System Ultrasound Scan in Port Harcourt Metropolis

Background of study: Recent studies show persistent upward trend in the incidence and prevalence of urinary system diseases. Urinary system ultrasound is versatile, accessible, useful and inexpensive. It serves as first line imaging modality in assessment of urinary system pathologies. Objective of study: To identify the common findings in urinary system ultrasound scan. Materials and Methods: Records from existing pool of results of patients who had abdominopelvic ultrasound scan at Intercontinental Diagnostic Centre, Port Harcourt, and Rivers State, Nigeria was used for this study. Data from 1,597 ultrasound scan reports for the year 2021 were collected and analyzed using descriptive statistics. Results: Four hundred and twenty-two (422) sonographic findings distributed among 23 pathological entities were revealed. Among the 23 entities, 12 showed significantly higher frequency of occurrence. They are, in order of occurrence, simple renal cyst, hydronephrosis, diffuse hyperechoic kidney, renal calculus, cystitis, enlarged kidney, bladder outlet obstruction, pyelonephritis, small kidney, polycystic kidney, ectopic kidney and renal agenesis. Overall prevalence was 26%. The male to female ratio of prevalence was 1.4:1 and adults to paediatrics ratio was 83.4:1. The renal findings showed patterns of occurrence i.e., predominantly bilateral, unilateral, bilateral or unilateral. Conclusion: There are 12 common findings with the male population showing higher prevalence than the female. In addition, there is a preponderance of hyperechoic parenchyma of the right kidney.

Assessment of intellectual disability in Klinefelter’s Syndrome associated with other Prenatal and Perinatal risk factors. A case report

IntroductionKlinefelter’s syndrome (KS) is considered as a genetic risk factor for intellectual disability and specifically for impairment on verbal skills. Prenatal and perinatal morbidity concurrent with this diagnosis determine the entity and typology of neurodevelopmental deficits.ObjectivesTo describe the intellectual and adaptive functioning of a patient with KS and prenatal and perinatal difficulties, assessed in the Service of Psychiatry, Clinical Psychology and Mental Health at La Paz University Hospital (Madrid).MethodsA descriptive study was conducted of a 6 year and 7-month-old boy with diagnosis of KS (karyotype XXY), extremely low weight at birth (752 gr.), Arnold Chiari type I malformation with post-hemorrhagic hydrocephalus and periventricular leukomalacia, bronchopulmonary dysplasia, intra-atrial septal defect, left kidney agenesis with iatrogenic adrenal insufficiency, and acute ventriculitis due to E. Coli. Neuropsychological evaluation was carried out in October 2021. Leiter-3 scale was selected due to the absence of expressive language; and his parents completed the questionnaire Adaptive Behavior Assessment System-II.ResultsThe nonverbal intelligence quotient was observed in the very low range (full-scale IQ = 69). The result of general adaptive behavior (z = -2.83), showed very high functional disability both in the conceptual, social, and practical domains.ConclusionsThe high number of causes of disability in this patient is consistent with a high degree of functional disability. Efficient evaluation sessions of intellectual performance, adaptive functioning, and necessary supports, due to the absence of expressive language and limited receptive language, are required. A specific neuropsychological evaluation profile should be established for KS.DisclosureNo significant relationships.

A Case Report of Three Port Management of Zinner Syndrome

A peculiar case of ischuria secondary to Zinner syndrome. A complete excision via laparoscopic approach given a 100 percent symptomatic relief is a safe and effective. Symptomatic congenital cysts require an appropriate management. Case Description: Case of 21 years male presented in urology unit with features of obstructive uropathy, acute urinary retention and severe lower abdominal pain on evaluation found to had left kidney agenesis and left seminal vesical cyst [1]. A Three port laparoscopic transperitoneal approach performed and left side seminal vesical cyst removal done. The peritoneum was incised between the bladder and the rectum to reveal the left seminal vesicle, which was resected from the surrounding tissue and removal of the cyst done. Discussion: Aim of the study was to show the advancement and usefulness of the laparoscopic approach with short hospital stay and painless procedure, minimal blood loss. Procedure lasted for 60 mins. Unrecordable post intraoperative complications. Patient had been discharged after 36 hours after the procedure, on follow up patient is asymptomatic for 24 months of the procedure. Symptomatic Zinner syndrome with appropriate identification and laparoscopic approach and magnified view better than open and other invasive techniques should be a method of choice in treatment of the congenital seminal vesical cyst and currently a golden surgical standard.

Demographics and histopathological characteristics of enucleated microphthalmic globes

Microphthalmia is a rare ocular anomaly with a poorly understood etiology that is most likely related to heritable and/or environmental factors. Many papers have been published pertaining to the clinical manifestations and management of this condition; however, few reports have reported detailed histopathological findings, which are the focus of this study, in addition to highlighting the basic demographics in these cases. This was a retrospective, observational study of all consecutive enucleated microphthalmic globes (with or without cysts) at 2 tertiary eye hospitals in Riyadh, Saudi Arabia. Globes were classified into 2 groups: severe microphthalmos (axial length or mean diameter less than 10 mm in infancy or 12 mm after age 1 year) and mild microphthalmos based on larger measurements. Clinical and demographic data collected included sex, age at enucleation, eye involvement, nationality/region, consanguinity, family history of eye anomaly, pregnancy, systemic disease, or syndromes. For histopathological data, a descriptive analysis was mostly performed. For correlations of some of our qualitative data, Fisher’s exact test was used. Eleven cases (6 mild and 5 severe microphthalmos) were initially identified with a female to male ratio of 4:7. Ten patients were Saudis, 7 of whom were from the central region. Consanguinity was found in 36% (4/11), and 3 of them had other ocular or systemic abnormalities (duodenal atresia, microcephaly, kidney agenesis, cryptophthalmos, and dysmorphic facial features). Histopathological data were available for 10 cases, half of which showed a coloboma and/or anterior segment anomaly. There was no significant correlation among gender, severity of microphthalmos or the presence of coloboma, although severe microphthalmic globes had a higher median of abnormal intraocular structures (9-interquartile range = 2 compared to 6-interquartile range = 1 in the mild group). Aphakia was found in half of the globes with associated anterior segment dysgenesis. We have concluded that microphthalmos is a visually disabling congenital anomaly that can be isolated or associated with other periocular or systemic anomalies, possibly in relation to consanguinity in our cases. Congenital aphakia was found in half of these cases and was mostly associated with absent Descemet’s membrane and agenesis of anterior chamber angle structures, supporting previously suggested embryological concepts. These findings necessitate further wider genetic testing and proper premarital counseling in Saudi Arabia.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiologically unsolved. Genetic alterations in roundabout guidance receptor 1 (ROBO1) have been associated with neuronal and cardiac developmental defects in living individuals. Although Slit-Robo signaling is pivotal for kidney development, diagnostic ROBO1 variants have not been reported in viable CAKUT to date. By next-generation-sequencing methods, we identified six unrelated individuals and two non-viable fetuses with biallelic truncating or combined missense and truncating variants in ROBO1. Kidney and genitourinary manifestation included unilateral or bilateral kidney agenesis, vesicoureteral junction obstruction, vesicoureteral reflux, posterior urethral valve, genital malformation, and increased kidney echogenicity. Further clinical characteristics were remarkably heterogeneous, including neurodevelopmental defects, intellectual impairment, cerebral malformations, eye anomalies, and cardiac defects. By in silico analysis, we determined the functional significance of identified missense variants and observed absence of kidney ROBO1 expression in both human and murine mutant tissues. While its expression in multiple tissues may explain heterogeneous organ involvement, variability of the kidney disease suggests gene dosage effects due to a combination of null alleles with mild hypomorphic alleles. Thus, comprehensive genetic analysis in CAKUT should include ROBO1 as a new cause of recessively inherited disease. Hence, in patients with already established ROBO1-associated cardiac or neuronal disorders, screening for kidney involvement is indicated.

Obstructed Hemivagina and Ipsilateral Renal Anomaly: Case Report

BACKGROUND: Hemivaginal obstruction syndrome and ipsilateral renal anomalies are known as Herlyn-Werner-Wunderlich syndrome (HWWs) or better known by the acronym obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It occurs as a result of complete failure of the Müllerian ducts to fuse and accounts for about 5% of Müllerian duct anomalies. Initial manifestations usually appear as a result of secretions accumulating within the hemivaginal obstruction. Patients with HWWs can come with complaints of lower abdominal pain, severe dysmenorrhea, pelvic or vaginal mass, abnormal vaginal discharge, acute urinary retention, fever, or vomiting. Therefore, careful diagnosis and appropriate management of this condition are desirable. The objective of the study was to report on the management of the obstruction due to HWWs. Patient was suspected hematocolpos with uterus didelphys from ultrasound and suggested right renal agenesis from BNO IVP. Diagnosis then confirmed by laparoscopy diagnostic. CASE REPORT: A 12-year-old patient was admitted to the gynecology ward of Dr. M. Djamil Central General Hospital from polyclinic with abdominal pain since 4 months before being admitted to the hospital. The pain gets worse every day before menstruation and decreases when given painkillers. CONCLUSION: OHVIRA syndrome is a triad characterized by hemivaginal obstruction and agenesis of the ipsilateral kidney (OHVIRA) and uterus in the delphys. Clinical symptoms in general are cyclic dysmenorrhea, palpable mass due to accumulation of menstrual flow, and severe pelvic pain which can later develop into a persistent form as a result of prolonged retention of menstrual secretions and obstructed hemivagina. Management options are surgical resection of the obstructed vaginal septum and drainage.

Unilateral Kidney Agenesis and other Kidney Anomalies in Infertile Men with Congenital Bilateral Absence of Vas deferens: A Cross-Sectional Study.

Background:We aim to determine the prevalence of renal anomalies in patients with congenital vas deferens agenesis referred for infertility assessment.Materials and Methods:This cross-sectional study was carried out on eligible infertile men from 2016 to 2019. Infertile men who were suspected of obstructive azoospermia were referred to the Ultrasound ward and they were examined by abdominal ultrasound for detecting the genital and kidney anomalies. An informed consent form was filled out by patients. Data was entered into SPSS software 21. Patients were divided into two groups in terms of congenital bilateral absence of vas deferens (CBAVD) or congenital unilateral absence of the vas deferens (CUAVD). Using the Chi-square test kidney anomalies between groups were compared. The P<0.05 was considered significant.Results:The mean age of participants was 33.05 ± 6.35. The frequency of CBAVD was 66 and the frequency of left side VD and right side VD were 23 and 21, respectively. The percentage of other comorbidities was calculated. Out of 110 cases, 12 (11%) men had coexistence of vas deferens and kidney agenesis. Other studies are in agreement with our findings. Although the percentage of CBAVD and CUAVD were 9.1% and 1.8% respectively, the difference was not significant (P=0.07).Conclusion:Considering the fact that kidney agenesis is a remarkable congenital anomaly that coexists with the majority of vas deferens agenesis cases and could not be detected by routine laboratory tests or transrectal ultrasound examination, it should be ruled out with transabdominal ultrasound examination after detection of vas deferens agenesis.

Eisenmenger Syndrome with Unilateral Renal Agenesis: A Rare Case Report

The most advanced form of Pulmonary Atrial Hypertension (PAH), linked with Congenital Heart Abnormalities (CHD), is Eisenmenger Syndrome (ES). This report is about a 26-year-old female who presented with ES treated with Phosphodiesterase type 5 (PDE5) inhibitors, cardiac glycosides, Angiotensin-Converting Enzyme (ACE) inhibitors, loop diuretics, antipyretics, iron and vitamin supplements. Investigations revealed unilateral renal agenesis of left kidney, pulmonary hypertension, ES with large ventricular septal defect and bidirectional shunt. Loop diuretics and PDE5 inhibitors remained the mainstay of the treatment which induced hearing loss and the patient self reported hearing improvement after ceasing furosemide administration. Additional treatment strategy is to be used to improve the symptoms and quality of life of patients.

Single umbilical artery associated with unilateral fetal kidney agenesis – case report

Single umbilical artery is the most frequent anomaly of the umbilical cord. Most of the times, the anomaly is isolated, but it can be associated with gastrointestinal anomalies (atresia or stenosis of different gastric segments), cardiac ano­malies (the risk is 7 to 8 times greater than in the ge­ne­ral population), genitourinary abnormalities and aneu­ploi­dies (trisomy 13, 18, 21). In this article, we present a resume of the knowledge regarding umbilical artery and its abnormalities, starting from a case of a female newborn who was diagnosed with single umbilical artery, right kid­ney agenesis and intrauterine growth restriction. The new­born associated congenital hypothyroidy which was diag­nosed neonatally by metabolic screening, without any spe­ci­fic clinical outcome.

Combined urogenital abnormalities of development and the formation of reproductive health in girls

BACKGROUND.Anomalies in the development of the uterus and vagina in some cases are combined with defects of the urinary tract. Therefore, the analysis of clinical situations associated with combined urogenital pathology in girls is of current and practical importance.THE AIM:to assess the state of reproductive health in girls with reproductive anomalies, renal agenesis, and other diseases of the urinary tract.PATIENTS AND METHODS.The study was conducted in 5 adolescent girls, including 3 patients with kidney agenesis, 1 patient with dysmetabolic nephropathy and nephroptosis, and 1 patient with recurrent urinary tract infection. In the analysis of clinical cases, the anatomical and functional features of the reproductive system are presented.RESULTS.The first 3 clinical cases are associated with the presence of kidney agenesis in the girl. In 1 clinical case, the clinic of the Mayer-Rokitansky-Kuester-Hauser syndrome (SMRKH) type II, including aplasia of the uterus and vagina and renal malformation, is presented. In clinical case 2, it was shown that modern transabdominal ultrasound examination of the pelvic organs, similar to MRI, can reveal the Herlin-Werner-Wunderlich syndrome. Agenesis of the kidney is one of the manifestations of trisomy of 22 pairs of chromosomes, which was noted in a patient from 3 clinical cases. 4 clinical cases is associated with the fact that kidney pathology, including nephroptosis, dysmetabolic nephropathy, can be combined with impaired sexual development. In 5 clinical case, type I SMRCC was described in a patient with recurrent urinary tract infection.CONCLUSION.Congenital malformations of the female genital organs are a rare pathology that requires special attention. Due to insufficient data concerning the mechanism of development of malformations of the genitourinary system, this problem requires further detailed study.

A calcified pelvic mass in a girl with cloacal anomalies

A 15-year-old girl, who had been experiencing right lower abdominal pain for 24 h, visited our emergency department. She had a history of cloacal anomalies, including duplication of the vagina and uterus, for which she underwent rectal and vaginal reconstruction at the age of 1 year. Coexisting anomalies included left kidney agenesis, neurogenic bladder with right grade I vesicoureteral reflux, and tetralogy of Fallot after corrective repair. She has been receiving clean intermittent catheterization for neurogenic bladder since the age of 2 years.

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.

Kabuki syndrome (KS) is a genetic disorder caused mainly by de novo pathogenic variants in KMT2D or KDM6A, characterized by recognizable facial features, intellectual disability, and multi-systemic involvement, including short stature, microcephaly, hearing loss, cardiac defects, and additional congenital anomalies. While congenital anomalies of the kidneys and urinary tract (CAKUT) are known manifestations of this disorder, studies focused solely on kidney involvement are scarce, and its prevalence is most likely underestimated. This study aimed to describe the prevalence and nature of CAKUT and other renal manifestations, in a cohort of KS patients followed at a single tertiary center. All patients who were evaluated at the Sheba Medical Center and received a clinical and/or molecular diagnosis of KS, over a 16-year period (2004-2020), were included. Digital medical records, including ultrasound studies, were reviewed by a team of pediatric nephrologists. Thirteen patients were included in the study, at ages ranging from the neonatal period to 20years. In eight patients, a pathogenic variant in KMT2D was established. CAKUT were detected in 8/13 (61.5%) of patients and varied from hypospadias, hydronephrosis, or double collecting systems to pelvic kidney, kidney asymmetry, horseshoe kidney, or kidney agenesis. One patient experienced kidney failure necessitating transplantation at 20years of age. Our findings underscore the high prevalence of CAKUT and genitourinary involvement in patients with KS and suggest that assessment by pediatric nephrology specialists is warranted as part of the routine multidisciplinary evaluation of newly diagnosed patients. A higher resolution version of the Graphical abstract is available as Supplementary information.

A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.

Bilateral renal agenesis (BRA) is a lethal con genital anomaly caused by the failure of normal development of both kidneys early in embryonic development. Oligohydramnios on fetal ultrasonography reveals BRA. Although the exact causes are not clear, BRA is associated with mutations in many renal development genes. However, molecular diagnostics do not pick up many clinical patients. Nephronectin (NPNT) may be a candidate protein for widening diagnosis. It is essential in kidney development, and knockout of Npnt in mice frequently leads to kidney agenesis or hypoplasia. A consanguineous Han family experienced three cases of induced abortion in the second trimester of pregnancy, due to suspected BRA. Whole-exome sequencing (WES)-based homozygosity mapping detected underlying genetic factors, and a knock-in mouse model confirmed the renal agenesis phenotype. WES and evaluation of homozygous regions in II:3 and II:4 revealed a pathologic homozygous frameshift variant in NPNT (NM_001184690:exon8:c.777dup/p.Lys260*), which leads to a premature stop in the next codon. The truncated NPNT protein exhibited decreased expression, as confirmed in vivo by the overexpression of WT and mutated NPNT. A knock-in mouse model homozygous for the detected Npnt mutation replicated the BRA phenotype. A biallelic loss-of-function NPNT mutation causing an autosomal recessive form of BRA in humans was confirmed by the corresponding phenotype of knock-in mice. Our results identify a novel genetic cause of BRA, revealing a new target for genetic diagnosis, prenatal diagnosis, and preimplantation diagnosis for families with BRA.

BRANCHIO-OTO-RENAL (BOR) SYNDROME

Introduction. This work is devoted to the problem of embryology of the ears and kidneys. First ear and kidney abnormalities were reported in 1946 by Edith Potter’s association of crumpled and flattened ears with bilateral kidney agenesis. Ear malformations are associated with an increased frequency of clinically significant structural renal anomalies compared with the general population. These include specific multiple congenital anomaly syndromes, Townes-Brocks syndrome, branchio-oto-renal syndrome.The link can be explained by structural and functional similarities between tissues in the inner ear and in the kidney. Also, toxins that accumulate in kidney failure can damage nerves, including those in the inner ear.Goal. To study the causes, clinical manifestations of Branchio-oto-renal (BOR) syndrome. Materials and Methods. Review of modern and foreign literary sources; methods - description, analysis, abstracting.Results and discussion. Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder. SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. Some affected individuals originally reported to have SIX5 gene mutations were later found to have EYA1 gene mutations as well, and researchers suspect that the EYA1 gene mutations may be the actual cause of the condition in these people.The proteins produced from the EYA1, SIX1, and SIX5 genes play important roles in development before birth. The EYA1 protein interacts with several other proteins, including SIX1 and SIX5, to regulate the activity of genes involved in many aspects of embryonic development. Research suggests that these protein interactions are essential for the normal formation of many organs and tissues, including the second branchial arch, ears, and kidneys. Mutations in the EYA1, SIX1, or SIX5 gene may disrupt the proteins’ ability to interact with one another and regulate gene activity.Conclusions. The link between ear anomalies and kidney function can be explained by structural and functional similarities between tissues in the inner ear and in the kidney. Additionally, toxins that accumulate in kidney failure can damage nerves, including those in the inner ear.

Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.

Congenital anomalies of the kidney and urinary tract (CAKUT) have been underestimated in Hirschsprung disease (HSCR). This paper aims at reporting results of patients with HSCR who underwent kidney and urinary tract assessment. Patients seen between December 2005 and November 2020 underwent a complete kidney and urinary tract diagnostic workup. Data regarding CAKUT, gender, length of aganglionosis, familial history, HSCR-associated enterocolitis (HAEC), RET genotype, and outcome were collected. Out of 472 patients, 280 completed the workup and represented the focus. Male to female ratio was 3.24:1. Familial cases accounted for 9.8% of patients. RET mutations were detected in 19.8%. We encountered a total of 61 patients with 70 nephrological issues (21.8%), including 28 hypoplasia/dysplasia, 12 hydronephrosis, 11 vesicoureteric reflux, 7 duplex collecting system, 2 kidney agenesis, 2 horseshoe kidney, and 8 miscellanea, involving 91 kidneys without side preponderance (50 right, 41 left). Of these 61 patients, 20 (7.1% of the whole series) required medical or surgical treatment. When comparing patients with and without CAKUT, familial history proved to occur with a significantly lower frequency in the former as did better patient perspectives of outcome. We confirmed that all diagnostic workups in HSCR should include a complete kidney and urinary tract diagnostic workup. Our study suggests that genes other than RET could play a role in determining CAKUT. Given worse patient perspectives of outcome, CAKUT seems to significantly interfere with quality of life thus confirming the need for early diagnosis and tailored prevention strategies.

Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.

This investigation aimed at characterizing penetrance and interrelation of the loss-of-function phenotypes, Hirschsprung's disease and kidney malformations, in carriers of exon 10 REarranged during Transfection (RET) mutations. Comparative analysis of penetrance of and interdependencies between Hirschsprung's disease and kidney malformations among carriers of mutations in RET codons 609, 611, 618, and 620. Hirschsprung's disease and kidney malformations (kidney agenesis, ureteropelvicalyceal dilatation, or polycystic kidney disease) each affected 3.6% (4 patients) of 112 carriers of RET mutations in exon 10. This percentage increased to 13% (4 patients) and 9% (3 patients) of 32 p.Cys620 carriers and 22% (4 patients) and 17% (3 patients) of 18 p.Cys620Arg carriers, respectively. Overall, Hirschsprung's disease (17%, 4 of 24 carriers; P = 0.002) and kidney malformations (13%, 3 of 24 carriers; P = 0.030) were associated with arginine-for-cysteine substitutions. Two of the six patients, originating from different p.Cys620Arg families, harbored both Hirschsprung's disease and kidney malformations. Hirschsprung's disease and kidney malformations are the more penetrant, the closer the cysteine mutations are located to the transmembrane domain (codon 636-657) of the RET kinase receptor.

Pulmonary agenesis with VACTERL association: A rare case with review of literature

Pulmonary agenesis is an extremely rare congenital malformation with an estimated frequency of 1 in 10000-15000 autopsies and 34 per million live births. In 50% cases it is associated with other malformations i.e. cardiovascular, musculoskeletal, gastrointestinal and renal. We report a rare case of a male neonate with right pulmonary agenesis associated with VACTERL sequence (L5 hemi-vertebra, right absent kidney with left ectopic kidney and right radial agenesis). This association was never reported in published literature.

Herlyn-Werner-Wunderlich Syndrome Presenting with Abdominal Pain: A Case Report

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly characterized by triad of uterus didelphys, obstructed hemi vagina, and ipsilateral renal agenesis. The most common presentation is abdominal pain, dysmenorrhea, and abdominal mass secondary to hemi-hematometrocolpos. We report an emergency presentation of this syndrome during the pandemic of COVID-19 in Qatif Central Hospital, Saudi Arabia, April 2020. An 11-year-old Saudi girl presented to the emergency room with three months history of cyclical lower abdominal pain. The pain was progressive, continuous and not relieved by analgesics. Abdominal examination revealed a tender abdominal mass mainly in the left iliac fossa, Ultrasound evaluation showed two uterine bodies. The left uterus was distended with complex fluid. Pelvic MRI findings consistent with Herlyn-Werner-Wunderlich (HWW) syndrome were found with uterine didelphys and left sided hematometra resulting from obstructed hemi-vagina and ipsilateral agenesis of the left kidney. Resection of the vaginal septum and drainage of hematometra was done. The patient recovered with normal cyclical menstruation. Cyclical or continuous lower abdominal pain with or without amenorrhea is the usual presentation of HWW syndrome during adolescence. Diagnosis is made by ultrasonography and MRI. Early diagnosis and accurate management can provide pain relief, prevent future complications, and preserve fertility.

A case report of VACTERL syndrome (anorectal, cardiac and renal malformations)

Introduction. VACTERL is a rare condition, named after the spectrum of malformations characterizing it: vertebral/vas­cu­lar anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, limb ano­ma­lies. Case presentation. We report the case of a male infant who presented in our clinic with the suspicion of inborn error of metabolism due to the severe metabolic acidosis and hypoglycemia. He was operated in the second day of life for imperforate anus and rectoperineal fistula. The radiological examination revealed severe bronchopneumonia for which he required antibiotic treatment and electrolyte infusions for the correction of the acidosis. Starting from the anorectal anomalies, we performed imagistic investigations that detected atrial septal defect and unilateral kidney agenesis. Based on the presence of three specific anomalies, we could establish the diagnosis of VACTERL association and we started the supportive treatment. Conclusions. VACTERL association is a complex spectrum of malformations, some of them with high mortality if they are not corrected on the right moment.