Rare Congenital Anomaly Research Articles

Intramuscular vascular malformations in pediatric patients: a retrospective study in a vascular anomalies clinic.

Intramuscular vascular malformations (IVMs) are rare developmental congenital structural abnormalities. Their clinical diagnosis is difficult, and imaging studies are essential to determine the type and extent of vessels involved. Treatment can be challenging and must be managed by a multidisciplinary team. A descriptive, observational, retrospective, longitudinal study of clinical records of patients diagnosed with IVMs who were evaluated at the vascular anomalies clinic from January 2011 to December 2021 was performed. Demographic, clinical, imaging, diagnosis, treatment, and response data were collected. Seven patients (five females and two males) with a mean age of 13.66 years (standard deviation 5.82 years) were included in the study. In all cases, the clinical diagnosis was venous and lymphatic malformation. The radiological findings were dilated and tortuous vascular structures or multilobulated lesions with septa inside, with or without vascular flow; these findings allowed diagnosis in all cases. Treatment modalities included sclerotherapy in five patients, surgical resection in two, medical treatment with sirolimus in three, and surveillance in one. Subsequent clinical evolution was favorable in all patients, with decreased pain in six (partial in four and total in two) and size reduction in one patient. IVMs in our pediatric population most frequently affect the lower extremities. The main symptoms and signs were pain on exertion and volume increase. Treatment can be challenging given the extension and depth of the malformations, so a combination of therapeutic modalities may be necessary to obtain the best outcome.

Expression of Wnt signaling proteins in rare congenital bladder disorders

Introduction and AimsCongenital bladder anomalies are rare and are a leading cause of end stage renal failure in children. The Wnt signaling pathway, important during embryonic development, has been implicated in the pathogenesis of these conditions through regulation of gene expression, including essential transcription factors. We investigated the expression of four Wnt transcriptional targets, namely, Pygopus 1 (Pygo1), FRA1, TCF7L1 and Connexin 43 (Cx43) in three rare congenital bladder disorders: bladder exstrophy (BE), neurogenic bladder (NGB) and posterior urethral valves (PUV). MethodsBladder tissue samples were collected from patients at the Great Ormond Street Hospital for Sick Children, London, UK, with control (normally-functioning bladder, N=9), BE (N=15), NGB (N=6) and PUV (N=5). Histological analysis was performed using the van Gieson stain to differentiate smooth muscle (SM) and connective tissue (CT) compartments. An unbiased, automated, semi-quantitative immunofluorescence analysis was performed to measure the labelling intensity of four Wnt-related proteins in tissue from these four groups. Results and DiscussionThere was a significant (p<0.05) increase in the expression of Pygo1 in the smooth muscle of all anomalies examined and also in the connective tissue in PUV compared to control. Cx43 also showed overexpression in the smooth muscle across all conditions; however, there was a reduced expression in NGB and an increase in PUV in connective tissue. TCF7L1 showed a significant decrease in both tissue compartments for NGB, whereas FRA1 expression remained unchanged across all anomalies. We also measured colocalization of Wnt-related proteins. TCF7L1 exhibited increased colocalization with Pygo1 and FRA1 in exstrophy compared to control. These results suggest a complex dysregulation of the Wnt pathway in congenital bladder disorders. ConclusionWnt signaling-related proteins show dysregulation in congenital bladder disorders compared to control tissue. Understanding these mechanisms should help towards non-invasive early diagnosis, drug target discovery and development of treatment strategies for these conditions.Summary tableSummary of Wnt-related protein expression and colocalization in bladder exstrophy (BE), neurogenic bladder (NGB) and posterior urethral valves (PUV) disorder compared to normally-functioning control bladder. The table shows the levels of expression as significantly up (↑) down (↓) or no change (-) of Pygopus 1 (Pygo1), Connexin 43 (Cx43), FRA1 and TCF7L1 expression in smooth muscle and connective tissue compartments in BE, NGB and PUV relative to control bladder tissue samples. The table also shows colocalization of six protein pairs of Pygo1 and FRA1; Pygo1 and Cx43; Pygo1 and TCF7L1; FRA1 and Cx43; FRA1 and TCF7L1 and Cx43 and TCF7L1 in bladder disorders compared to control.Summary tableProtein Expression (Smooth muscle)Pygo1Cx43FRA1TCF7L1BE↑↑--NGB↑↑-↓PUV↑↑--Protein Expression (Connective tissue)BE----NGB-↓-↓PUV↑↑--ColocalizationPygo1/FRA1Pygo1/Cx43Pygo1/TCF7L1FRA1/Cx43FRA1/TCF7L1Cx43/TCF7L1Exstrophy--↑-↑-NGB------PUV------

Intra-Atrial Right Coronary Artery: A Condition Revealed by Coronary CT Scan.

Coronary artery anomalies are rare and may involve the coronary origin, course, or termination. Most are benign; however, some can lead to myocardial damage, sudden death, or potential hazards during interventional or surgical procedures. The advancement of imaging studies has led to an increase in their diagnosis. Coronary computed tomography angiography (CCTA) especially has characterized new anomalies that were previously anecdotal. This is the case of the intra-atrial course of the right coronary artery. The present is a brief review about this rare congenital anomaly.

A Case Series On Tracheal Atresia

Background: Agenesis, aplasia or atresia of the trachea is a rare congenital anomaly that to date seems to be incompatible with life. Tracheal atresia is a congenital absence of a normal passage that does not imply a particular length of involvement. Tracheal atresia encompasses cases of agenesis (total absence of trachea) as well as varying lengths of tracheal mal-development1 . We describe here 3 cases of tracheal agenesis. Materials and Methods: It is a descriptive case series done with three neonates in tertiary care teaching hospital in Department of Paediatrics. Conclusion: tracheal atresia is a rare anomaly and clinicians need to be aware of this condition to provide adequate supportive management at the time of delivery and subsequently

Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation

Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare congenital developmental disorder marked by distinct facial dysmorphisms, coloboma, diminutive stature, and cognitive impairment, as initially described by Baraitser and Winter in 1988. Here, we derived human induced pluripotent stem cells (hiPSCs) from a 4-year-old male patient diagnosed with Baraitser-Winter Cerebrofrontofacial syndrome and harbouring a mutation in the ACTB gene. The newly established hiPSC line exhibited normal karyotypes and demonstrated the capacity to differentiate into all three germ layers. Additionally, these hiPSCs maintained their original genotype and expressed markers of pluripotency. Patient-derived hiPSCs would serve as a valuable tool for in vitro modelling of Baraitser-Winter Cerebrofrontofacial syndrome and reveal the potential pathogenesis induced by ACTB gene mutations

Duane retraction syndrome type 1 with nonsyndromic retinitis pigmentosa – A rare atypical association

Duane Retraction Syndrome (DRS) is a rare congenital disorder of ocular motility typically characterized by a triad of variable duction limitation, globe retraction, and palpebral fissure narrowing on adduction. It is associated with various ocular and nonocular anomalies. We report a case of a 7-year-old boy with a rare association of unilateral type 1 DRS and retinitis pigmentosa. Retinal dystrophies are rarely associated with DRS, and the nature of the relationship between them remains unclear. However, this case report emphasizes the need for close monitoring and long-term follow-up of patients with DRS for retinal dystrophies.

A rare case of a 5-year-old girl with Klippel-Trénaunay syndrome and a bleeding focal vulvar hemangioma in Uganda.

Klippel-Trénaunay syndrome can present with atypical manifestations such as a bleeding vulvar hemangioma. This case report, the first documented in Uganda, highlights the need for awareness of such presentations and underscores the importance of continuous follow-up in female patients to manage potential complications throughout adolescence and pregnancy. Klippel-Trénaunay syndrome (KTS) is a rare congenital disorder marked by bone and soft tissue hypertrophy, port-wine stains, and varicosities. Cases involving genital hemangiomas are rare. This report highlights a 5-year-old girl in Uganda with typical KTS features, including hypertrophy and port-wine stains, along with a bleeding vulvar hemangioma, emphasizing its uncommon presentation and potential complications. Treatment involved compression bandaging and timolol 0.2% solution. This case underscores the importance of awareness of atypical manifestations of hemangiomas with KTS and continuous follow-up for female patients, especially through adolescence and pregnancy, due to potential complications such as prepubertal per vaginal bleeding, menorrhagia, and post-partum bleeding.

INTEGRATED CARE FOR URETEROCELE PROLAPSE

Ureteroceles are rare congenital anomalies, occurring in about 1 in 4000 individuals, with a higher incidence in females, particularly those with a duplex renal system. The etiology and clinical presentation of ureteroceles vary, often complicating diagnosis and management. Common symptoms include antenatal hydronephrosis, vesicoureteral reflux (VUR), and recurrent urinary tract infections (UTIs). In cases of ectopic ureteroceles, there is a risk of significant complications, such as hypertension and renal failure, requiring timely and precise intervention. Diagnostic methods include sonography and voiding cystourethrography (VCUG), while management approaches range from minimally invasive endoscopic incisions to more complex excision and reimplantation procedures, depending on the severity. We report the case of a 1.5-month-old female infant, born via LSCS, presenting with fever and a rapidly enlarging reddish mass descending from the urethra. Initially the size of a peanut, it grew to the size of a lemon, accompanied by symptoms of straining during urination and defecation. While prenatal scans showed hydro-ureteronephrosis, postnatal imaging appeared normal until the mass emerged. Clinical suspicion of a ureterocele was confirmed through imaging studies. This case highlights the unpredictable nature of ureteroceles, emphasizing the importance of prenatal and postnatal screening. Treatment strategies must be individualized, considering the rapid progression of the condition. While endoscopic incision is favored for its minimally invasive approach, reconstructive surgery may be necessary if complications such as reflux or a duplex renal system are present. Early detection remains key to preventing long-term morbidity and improving outcomes in infants with ureteroceles.

Complete Pentalogy Of Cantrell: Case Report And Review Of Literature

Introduction: Pentalogy of Cantrell (POC) is a rare congenital anomaly with two sub-categories: complete or partial. Complete has all five defects (anterior diaphragmatic defect, ventral abdominal wall defect, pericardial defect, intracardiac anomalies, and lower sternal defect). The first documented case was described by Cantrell et al. in 1958. Both sporadic and genetic causes have been proposed for POC, with a reported incidence of 5 - 10 cases per one million live births and various clinical presentations. The prognosis of POC depends on the severity of the defects and the associated cardiac anomalies. This case report seeks to increase awareness of this condition, emphasize the need for appropriate counselling in our environment, and review the literature on previous reported cases’ outcomes. Case Presentation: A 5-hour-old term female neonate was referred to our Children Emergency Center with multiple defects (ectopia cordis, sternal cleft, omphalocele, and limb abnormalities) with dysmorphic facies. A diagnosis of POC was made, and multidisciplinary management was instituted. The eviscerated heart and epigastric omphalocele were dressed and evaluated for palliative surgical care. However, she developed complications with sepsis and electrolyte derangements and died from multi-organ failure before any surgical intervention could be carried out. Conclusion: Though rare, the Pentalogy of Cantrell in its classical form does occur in our environment. The presence of extracardiac and limb deformities worsens the outcome. Based on poor outcomes, there is a need to emphasize appropriate antenatal and postnatal assessments to provide effective counselling on termination, neonatal palliative care, and surgical repairs as appropriate.

Isolated Cleft Foot: A Case Report and Review of Literature

AbstractCleft foot is a rare congenital anomaly (syndromic/isolated). Although there have been published reports about this anomaly, none has so far described standardized treatment guidelines. In this case report, we describe the details of operative management of an isolated cleft foot in an 8-year-old girl with a brief review of literature, keeping in mind the aims of the treatment, governed by the local culture and preferred footwear design in the Indian scenario.

Small cardiac vein draining into the inferior vena cava.

Cardiac venous anomalies are rare congenital anatomical anomalies, which are most commonly found on computed tomography scans as an accidental finding. We report a case of a 14-year-old child who was operated for an atrial septal defect, and during the operation, we came across an anomalous drainage of the small cardiac vein into the inferior vena cava. The child's postoperative course was uneventful.

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.

Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus.

Um relato de caso sobre Divertículo de Meckel: Uma anomalia congênita rara

Introduction: Meckel's diverticulum (DM) is formed by all layers of the intestinal wall and is a true intestinal diverticulum. It originates from failure in obliteration and absorption of the omphalomesenteric duct during the first trimester of fetal life. DM is an embryonic trace that affects 2% to 4% of the general population. It can have its symptomatic or asymptomatic form. The appearance of symptoms suggests complications such as digestive bleeding, which is more common in children. Clinical presentation includes abdominal pain, vomiting, constipation, and bloody stools, as rectal bleeding is typically described as gooseberry or brick-colored jelly. The definitive treatment of DM is surgical. Discussion: Because DM is usually asymptomatic, particularly in adults, it may be found during a laparotomy performed for another reason. Although symptomatic Meckel can occur at any age, it is most often associated with younger ages. The clinical manifestations are varied and appear during the first decade of life. Three types of operations have been described: segmental resection-anastomosis, wedge resection and tangential stapling. Elective surgery is not recommended for cases where the diverticulum is discovered incidentally. Conclusion: It is essential that each case of Meckel's diverticulum be evaluated individually, taking into account variables such as gender, age, anesthetic risk, and diverticulum characteristics for a better prognosis and better choice of treatment. It can be symptomatic or asymptomatic, since when symptomatic, it is most often associated with complications.

Late Presentation of Poland Syndrome: A Case Report of a 45-year-old Male with Unilateral Chest Wall Anomalies

ABSTRACT Poland syndrome (PS) is a rare congenital disorder characterized by unilateral chest wall anomalies, including the absence or underdevelopment of the pectoralis major muscle. Typically diagnosed in childhood because of visible physical deformities, cases presenting in adulthood are rare and present unique diagnostic challenges. We report the case of a 45-year-old male with longstanding but progressively concerning asymmetry of the chest wall. The patient, who had noticed mild differences since childhood, sought medical evaluation due to increased discomfort. Physical examination revealed the absence of the sternal head of the right pectoralis major muscle. Imaging studies, including chest X-ray and computed tomography, confirmed the diagnosis of PS. This case highlights the variability in the presentation of PS and the potential for delayed diagnosis in adulthood. The rarity of late presentations underscores the need for clinicians to consider PS in the differential diagnosis of unilateral chest wall anomalies, even in adult patients. Management strategies are discussed, emphasizing the importance of a multidisciplinary approach, including surgical intervention and physiotherapy tailored to the patient’s specific functional and esthetic needs. PS can present later in life, and increased awareness among health-care providers is essential for timely diagnosis and management. Addressing functional and cosmetic concerns through a personalized treatment plan can significantly enhance patient outcomes and quality of life.

Unilateral pulmonary vein atresia: Difficulties of radiological diagnosis

Pulmonary vein atresia is a rare congenital abnormality that could manifest in isolation or in association with other congenital abnormalities in the cardiovascular system such as pulmonary vein hypoplasia. Pulmonary vein atresia leads to changes in cardiovascular functioning. This abnormality is often diagnosed in children with recurrent pneumonia and hemoptysis. In adulthood, pulmonary vein atresia is much less common, with clinical symptoms such as dyspnea during physical exercises and hemoptysis. However, some patients are asymptomatic. Owing to the nonspecific imaging findings, lung parenchymal changes are often misdiagnosed as another lung disease, including inflammatory genesis disease. In this article, a case of a young man with asymptomatic unilateral pulmonary vein atresia combined with pulmonary artery hypoplasia and interstitial lung changes in a lung with hypoplasia was presented. These pathologies were first identified in a 21-year-old patient by contrast-enhanced computed tomography.

Unilateral rib agenesis: antenatal three-dimensional ultrasonographic detection of the rare congenital anomaly of ribs

Unilateral rib agenesis: antenatal three-dimensional ultrasonographic detection of the rare congenital anomaly of ribs

Pediatric coronary cameral fistula in a structurally normal heart: a case report and review of the literature

IntroductionCoronary cameral fistulas (CCFs) are rare congenital anomalies characterized by abnormal connections between a coronary artery and one of the cardiac chambers. These abnormal connections can lead to significant clinical implications, including heart failure and myocardial ischemia, necessitating timely diagnosis and intervention.Case presentationA 5-year-old Iranian boy was brought to the emergency room at Heart Hospital Center complaining of chest pain and dyspnea on exertion. He had experienced similar episodes over the past 4 months, which had not been evaluated. Physical examination revealed stable vital signs and no remarkable findings. Transthoracic echocardiography demonstrated a dilated left coronary artery with a large aneurysm and a small orifice to the right ventricular body. The left ventricular ejection fraction was 55%. Cardiac computed tomography angiography confirmed the diagnosis. Cardiac angiography showed a dilated left coronary artery and a coronary cameral fistula to the right ventricular . The aneurysm was successfully occluded using two Amplatzer™ devices.ConclusionThis case underscores the critical role of multimodal imaging in diagnosing and managing coronary cameral fistulae. Early detection and appropriate intervention are paramount in preventing the progression of symptoms and potential complications such as heart failure and myocardial ischemia. The successful closure with Amplatzer™ devices highlights the efficacy of minimally invasive techniques in treating complex cardiovascular anomalies. Regular follow-up and careful monitoring are essential to ensure long-term success and to manage any potential recurrences.Clinical key messageTimely identification and management of coronary cameral fistulae are crucial to prevent complications. Advances in imaging techniques and minimally invasive treatments, such as transcatheter closure, offer effective solutions. A multidisciplinary approach and regular follow-up are essential for comprehensive care and successful long-term management.

European Reference Network eUROGEN Guidelines on the Management of Anorectal Malformations, Part II: Treatment

Abstract Introduction Anorectal malformations (ARMs) are rare birth defects affecting the anorectum and oftentimes the genitourinary region. The management of ARM patients is complex and requires highly specialized surgical and medical care. The European Reference Network eUROGEN for rare and complex urogenital conditions aimed to develop comprehensive guidelines for the management of ARM applicable on a European level. Methods The Dutch Quality Standard for ARM served as the basis for the development of guidelines. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from seven European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected and recommendations were formed considering the current evidence, expert opinion, and the European context. Results Surgical and medical treatment of ARM, postoperative instructions, toilet training, and management of fecal and urinary incontinence were addressed. Seven new studies were identified. The panel adapted 23 recommendations, adopted 3, and developed 8 de novo. The overall level of newly found evidence was considered low. Conclusion Treatment of ARM patients requires a multidisciplinary team and expertise about anatomical and surgical aspects of the disease, as well as long-term follow-up. This guideline offers recommendations for surgical and medical treatment of ARM and associated complications, according to the best available evidence and applicable on a European level.

Scrotoschisis: Management Challenges and Review of Literature.

Scrotoschisis (extracorporeal testicular ectopia) is a rare congenital defect of the scrotal sac associated with the extrusion of one or both testicles. The exact mechanism causing the anomaly is largely unknown. This is a report of two infants aged 3 and 4 days, respectively, presented with infected unilateral extracorporeal testicular ectopia. Both infants had orchidopexy and repair of the scrotal defect following debridement of the infected defects and administration of broad-spectrum parenteral antibiotics. The infants have remained well at 3 years of follow-up. The isolated unilateral disease was described by several authors. Delayed presentation in scrotoschisis results in superimposed infection which complicates surgical management resulting in a prolonged hospital stay.

A case of retrocaval ureter with robot-assisted ureteral reconstruction.

Retrocaval ureter is a rare congenital anomaly that causes ureteral obstruction. Because of the rarity of retrocaval ureter, only a few cases of open, laparoscopic, or robot-assisted surgery have been reported. We herein report a case of retrocaval ureter that was successfully reconstructed with robot-assisted surgery. A 24-year-old woman was incidentally diagnosed with right hydronephrosis on ultrasonography. Computed tomography revealed retrocaval ureter, and the right hydronephrosis was attributed to the retrocaval ureter. The patient underwent robot-assisted right ureteral reconstruction in the left lateral decubitus position. No intraoperative or postoperative complications occurred, and no right hydronephrosis was observed 6 months after the operation. The present case demonstrated the feasibility and efficacy of robot-assisted ureteral reconstruction for retrocaval ureter.