Rare Congenital Anomaly Research Articles

Pediatric Quadricuspid Aortic Valve: Morphology, Characteristics, Clinical Outcomes, and Literature Review.

Quadricuspid aortic valve (QAV) is an exceedingly rare congenital heart defect (CHD) which has not been well-defined in a pediatric population. The Mayo Clinic echocardiography database was retrospectively analyzed to identify patients ≤18 years diagnosed with QAV from January 1990 to December 2023. Patients with truncus arteriosus were excluded. All images were independently reviewed to define morphology of the QAV by using the Hurwitz and Roberts classification. Fourteen patients with QAV were identified with a median age at time of diagnosis being 10.5 years (interquartile range [IQR] 6-14 years). Male-to-female ratio was 3:1. Associated CHDs were present in 50% (n = 7) patients. The most common morphological subtypes of QAV were Type D in 43% (n = 6) and Type B in 29% (n = 4). Aortic regurgitation was the most frequently associated valvular abnormality affecting 86% (n = 12) cases, with greater than moderate regurgitation in only two patients. Aortic valve stenosis was observed in 14% (n = 2) patients. Ascending aortic dilatation was present in 21% (3/14) of the cohort, but only 14% (1/7) of isolated QAV patients. At a mean follow up of 11 ± 6.6 years and a median follow-up age of 22 years (IQR 14-27 years), survival was 100% with no primary interventions on the aortic valve or aorta. However, four patients required surgical interventions for associated CHDs. Among children with QAV, almost half of the patients had additional CHD. Aortic regurgitation was the predominant hemodynamic abnormality. Long-term survival was excellent with minimal progression during childhood and adolescence.

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in REV3L and PLXND1 are reported in only a minority of cases, suggesting the involvement of additional causative genes. With the aim to uncover the molecular causative defect and identify a potential genetic basis of this condition, we performed trio-WES on a cohort of 37 MBS and MBS-like patients. No de novo variants emerged in REV3L and PLXND1. We then proceeded with a cohort analysis to identify possible common causative genes among all patients and a trio-based analysis using an in silico panel of candidate genes. However, identified variants emerging from both approaches were considered unlikely to be causative of MBS, mainly due to the lack of clinical overlap. In conclusion, despite this large cohort, WES failed to identify mutations possibly associated with MBS, further supporting the heterogeneity of this syndrome, and suggesting the need for integrated omics approaches to identify the molecular causes underlying MBS development.

Diagnosis and management of prune belly syndrome in pediatric patients

Prune-Belly Syndrome has been defined as a rare urological congenital anomaly. Worldwide, a prevalence of 1 per 50,000 live births was described. Among the characteristics that identify this syndrome are the deficiency of the abdominal wall musculature, dilation of the urinary tract and bilateral cryptorchidism. Management requires great interdisciplinary knowledge and even urological surgery. The objective of this work was to identify the main methods of diagnosis and management of Prune Belly Syndrome in pediatric patients through a bibliographic review. The bibliographic review was carried out with articles published from 2017 to 2023 in high-impact journals, 25 articles were found, 8 had case reports and 17 were a theoretical source of information. In short, the key diagnosis is established by means of a prenatal ultrasound, with respect to management it can be conservative or surgical and multidisciplinary management with specialists is important.

Laparoscopic retrocaval ureteroplasty in a child with combined urodynamic disorders

Retrocaval location of the ureter in combination with aberrant renal vessels is a rare and complex urinary system malformation that requires careful verification. Currently, the most appropriate method for diagnosing retrocaval ureter is contrast-enhanced computed tomography. With the development of hydronephrosis or ureterohydronephrosis, the patient underwent laparoscopic ureteroplasty. Surgical treatment of retrocaval ureter involves resection of the altered ureter or pelvic–ureter segment with the formation of uretero-ureteral anastomosis or ureteropieloanastomosis anterior to the inferior vena cava. This article presents a successful laparoscopic ureteroplasty in a child with complex urodynamics of the urinary tract. Considering the presence of two levels of ureteral vascular crossing in the clinical example, pyelo-ureteral segment was performed to relocate the ureter in front of the inferior vena cava and aberrant inferior polar vessels. The patient was discharged in satisfactory condition to the outpatient stage of treatment, with subsequent hospitalization in the urological department. Retrocaval location of the ureter in combination with aberrant renal vessels is a rare congenital anomaly that requires prompt examination in a specialized clinic and an individual examination and treatment plan.

Extensive isolated bilateral Ankyloblepharon Filiforme Adnatum: a case report

We report a case of a rare congenital eyelid abnormality, ankyloblepharon filiforme adnatum, in an otherwise healthy male neonate, bom to healthy parents out of non-consanguineous marriage. This newborn presented with extensive band of tissue connecting upper and lower eyelid of both eyes, resulting in extremely limited palpebral aperture opening. Antenatal history was unremarkable. The parents came to us at the age of one month. The baby was operated on that day at admission under local anesthesia. The eyelid band of both eyes were excised at the level of each lid margin resulting in normal eye opening. Dilated fundoscopic examination was done along wit,h anterior segment examination. No underlying ocular abnormalities were noted. A detail systemic examination by pediatrician failed to reveal any other congenital anomaly. Echocardiography and cerebral echography (both normal) were performed to exclude congenital heart disease and cerebral malformations. The baby was then discharged without complications. Ankyloblepharon filiforme adnatum may be isolated or may present with other congenital anomalies. Therefore, the presence of eyelid bands should alert for complete systemic examination. Prompt treatment is required for proper opening of the eye and to decrease the risk of amblyopia. CME J 2024; 3(2); 47-49

Situs inversus partialis (levocardia): an incidental discovery of an extremely rare case during the autopsy of a female with suicidal poisoning

BackgroundSitus inversus is a rare congenital anomaly. In this condition, the abdominal and chest organs are positioned in reverse, a mirror image of the normal anatomical position. It is divided into two categories. 1. Situs inversus totalis, in which the apex of the heart points toward the right side. 2. Situs inversus partialis or incompletus, in which the apex of the heart points toward the left side. Situs inversus totalis is present in 1 per 10,000 to 50,000 individuals of the general population, whereas situs inversus partialis is a much rarer condition and is present in 1 per 2,000,000 individuals of the general population. The term situs ambiguous is also used for the arrangement of organs and vessels in an unordered manner.Case presentationIn this paper, we present an extraordinary case of situs inversus partialis discovered incidentally during the autopsy of a female body with a documented history of suicidal poisoning. This unique finding sheds light on the diagnostic challenges and implications of situs inversus partialis, especially in patients with underlying medical conditions.ConclusionsThis report underscores the importance of thorough and systematic investigations during autopsy examinations to identify and comprehend rare anatomical anomalies that may otherwise remain unnoticed. Increased awareness of such rare congenital anomalies may contribute to a better understanding of their prevalence and potential clinical implications for healthcare professionals and researchers.

Dental management of Fanconi anemia: a rare congenital disorder

PurposeFanconi anemia is a rare inherited genetic disorder that is characterized by all three defective blood cell lines such as reduced red blood cells, platelets, and white blood cells. This makes the individual susceptible to spontaneous oral bleeding and prone to oral infections including periodontal diseases.MethodDental management of individuals with Fanconi anemia can be a difficult task as these individuals have a tendency for uncontrolled hemorrhage and infections after any simple dental procedure. This case report highlights the oral manifestations and management of the same in such individuals taking into consideration the complications in such rare diseases.ResultIn this case report, the individuals’ oral manifestations and spontaneous oral bleeding were successfully managed by preventive single-donor platelet transfusion, factor VII transfusion, and local tranexamic acid usage during the dental interventions along with parental counseling.ConclusionFanconi anemia being a rare inherited disorder is often difficult to manage due to a lack of knowledge and awareness among the dental clinicians. This case report attempts in highlighting the same and spreading awareness among the clinicians.

Coding and Non-Coding Transcriptomic Landscape of Aortic Complications in Marfan Syndrome.

Marfan syndrome (MFS) is a rare congenital disorder of the connective tissue, leading to thoracic aortic aneurysms (TAA) and dissection, among other complications. Currently, the most efficient strategy to prevent life-threatening dissection is preventive surgery. Periodic imaging applying complex techniques is required to monitor TAA progression and to guide the timing of surgical intervention. Thus, there is an acute demand for non-invasive biomarkers for diagnosis and prognosis, as well as for innovative therapeutic targets of MFS. Unraveling the intricate pathomolecular mechanisms underlying the syndrome is vital to address these needs. High-throughput platforms are particularly well-suited for this purpose, as they enable the integration of different datasets, such as transcriptomic and epigenetic profiles. In this narrative review, we summarize relevant studies investigating changes in both the coding and non-coding transcriptome and epigenome in MFS-induced TAA. The collective findings highlight the implicated pathways, such as TGF-β signaling, extracellular matrix structure, inflammation, and mitochondrial dysfunction. Potential candidates as biomarkers, such as miR-200c, as well as therapeutic targets emerged, like Tfam, associated with mitochondrial respiration, or miR-632, stimulating endothelial-to-mesenchymal transition. While these discoveries are promising, rigorous and extensive validation in large patient cohorts is indispensable to confirm their clinical relevance and therapeutic potential.

Biventricular repair in low-weight patient with interrupted aortic arch and aortic atresia

BackgroundAortic atresia with ventricular septal defect is a very rare congenital cardiac anomaly, especially in combination with aortic arch interruption. It is always challenging to choose the optimal treatment tactics for such patients. One of the possible types of intervention is the Yasui procedure. There are only 19 reported cases in the literature of aortic atresia with interruption of the aortic arch type B or C, and not a single clinical case of type A.Case presentationThe proband was a 2-day-old boy with diagnosis: aortic atresia with a ventricular septal defect and interruption of the aortic arch type B. The child underwent a Yasui procedure without serious postoperative complications and with good long-term result.ConclusionsThe Yasui procedure in patients with aortic atresia and interrupted aortic arch can be performed with minimal complications, even in low-weight patients.

Tubular adenoma arising in tubular colonic duplication: a case report.

Colonic duplication constitutes a rare congenital anomaly, characterized by the presence of hollow cystic or tubular structures exhibiting an epithelial-lined intestinal wall. Diagnostic challenges persist due to its low incidence and manifestation of nonspecific symptoms such as abdominal pain or constipation, resulting in a reluctance to pursue surgical resection. As associated malignancies in colonic duplication are rare, the inherent malignant potential of these anomalies remains undetermined. Additionally, despite reported instances of associated malignancies in colonic duplication, there is an absence of reports in the literature detailing tubular adenoma within these cases. The histologic features of the presented case are particularly noteworthy, situated at the precancerous stage, intimating potential progression towards adenocarcinoma within colonic duplication.

Fetal Magnetic Resonance Imaging of Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHs) is a rare congenital anomaly, involve urinary tract and gastrointestinal tract. The prognosis is dismal, the death is caused by infection. In general the diagnosis is made based on ultrasonography (US) examination during the antenatal period due to the presence megacystis in the female fetus. Fetal Magnetic Resonance Imaging (MRI) has excellent tissue contrast can depict colon caliber and meconium distribution, hence definitive diagnosis can be established and useful for counseling and post natal management.

Analysis of phenotypic characteristics and mutation patterns in syndromic craniofacial anomalies: Insights from a tertiary care medical genetics unit in South India

ABSTRACT Context: Craniofacial anomalies (CFAs) are rare congenital anomalies that have a profound impact on social acceptance. Most of the syndromic CFAs are genetic in origin and are the result of alteration in single or multiple genes inherited from parents or de novo. Aims: The main aim of this study was to explore the phenotypic variations and the mutation profiles in the various CFA. Subjects and Methods: This was a retrospective study where records of 20 patients were obtained from electronic medical records for analysis. The numbers provided do not accurately reflect the true prevalence as they only encompass cases referred to our department for testing. Results: The median age in this cohort was 1 year with males 60% and females 40%. Out of 20 cases, 8 cases were classified as CFA-associated craniosynostosis and 12 with orofacial clefts. Disease-causing genes identified were FGFR2, RTTN, ASXL3, IRF6, TP63, POLR1D, TCOF1, KMT2D, KDM6A, LARP1, and C5orf42. Most of these craniofacial syndromes were predominantly autosomal dominant, sporadic, and de novo. We had three autosomal recessive cases (RTTN, LARP1, and C5orf42) and one X-linked dominant case (KDM6A). Two novel variants were identified, one for Van der Woude syndrome and another for Crouzon’s syndrome. Conclusions: Although these syndromes are rare in occurrence, the present study provides a detailed phenotypic spectrum and causative mutation in various CFAs in Indian patients. This is crucial for understanding the genetic basis of these conditions and can potentially lead to advancements in diagnosis, treatment, and appropriate genetic counseling.

Lobar Emphysema Successfully Operated in an Extreme Premature Neonate

Background: Lobar emphysema in a newborn may be due to a rare congenital developmental anomaly of the lung, termed congenital lobar emphysema (CLE) or may develop secondary to lung damage, especially with positive airway pressures in premature newborns, known as acquired lobar emphysema (LE). They may have overlapping clinical and radiological features. However, surgical lobectomy is required whenever there is significant respiratory compromise. Reports of surgery in LE in extreme preterms are sparse. Clinical Description: A female newborn with gestational age of 28 weeks, weight of 1.180 kg, presented with respiratory distress after birth, initially treated as hyaline membrane disease. With worsening respiratory distress on positive airway pressures, repeat chest X-ray and computed tomography (CT) chest on day 15 of life, suggested possible LE on the left side with the tracheo-mediastinal shift to the right. Management and Outcome: Left thoracotomy and left upper lobectomy was done, following which, there was rapid improvement in respiratory distress, the newborn being extubated after 6 hours, and weaned off oxygen over the next 3 days. The baby was discharged after 8 weeks and at the last follow-up of 3 years of age, the child was growing well with no complications. Conclusion: Preterm neonates with initial radiological features of hyaline membrane disease, requiring prolonged respiratory support, may be harboring other underlying lung anomalies, which are identified by CT chest. Lobar emphysema with tracheo-mediastinal shift warrants prompt surgery, which is feasible and successful, even in a low birth-weight premature infant.

Congenital Megalourethra Presented with Renal Anomalies

Megalourethra is a rare congenital disorder of male penile tissue and urethra, characterized by nonobstructive dilatation of the urethra, mainly classified into scaphoid and fusiform types. It is commonly associated with multisystem involvement including hydronephrosis, hydroureter, posterior urethral valves, and vertebral, anal, and cardiac anomalies. The isolated entity is rarely found. Urethroplasty is a management modality to treat megalourethra with the treatment of other associated anomalies. In this article, we are presenting a case of megalourethra associated with right hydronephrosis, Grade 3–4 vesicoureteral reflux, small left kidney, and posterior urethral valve.

Sturge-Weber Syndrome: An Ophthalmology Manifestation and Management Review

Abstract Sturge-Weber syndrome (SWS) is a rare congenital disorder characterised by haemangioma found in several parts of the body, such us ocular, intracranial, and facial skin structures. Glaucoma is one of the most common ophthalmic symptoms in SWS patients, occurring at birth or throughout life and eventually leading to blindness. Ophthalmologists emphasise the importance of recognising and treating this disease because of the variety of ocular signs it causes and the complexity of the treatment decision. The purpose of this paper is to improve our understanding of clinical symptoms and provide up-to-date information on SWS treatment, particularly in cases of glaucoma and choroidal haemangioma.

Torpedo maculopathy

Abstract Torpedo maculopathy is a rare congenital defect of the retinal pigment epithelium that produces a disruption of outer retinal layers. It is a hypopigmented torpedo-shaped lesion temporal to the macula, pointing toward the fovea. The visual acuity is usually normal because there is no foveal involvement. Regular follow-up is required in these patients as they can develop choroidal neovascularization.

MORNING GLORY SYNDROME:A RARE ENTITY

Morning glory syndrome is a rare congenital optic disc anomaly that can cause visual impairment and may be linked to ocular and non-ocular abnormalities. It is characterized by a distinct fundoscopic appearance, which includes a large excavated disc with radial vessels and a central turf of glial tissue within a funnel-shaped excavation of the posterior fundus. In this case report, we present a female middle aged, with this uncommon congenital optic disc anomaly.

A rare case of Klippel-Trenaunay-Weber syndrome in a child

Klippel-Trenon-Weber syndrome is a rare congenital disorder characterized by polymorphism of clinical manifestations, including vascular malformations, skeletal deformities, facial asymmetry and other developmental anomalies. The study of this syndrome is driven by its rarity, complexity of diagnosis and treatment, and significant impact on the quality of life of patients. Early diagnosis and adequate surgical intervention can significantly improve the prognosis and reduce the risk of serious complications This is a rare congenital disease characterized by a triad of symptoms: angiodysplasia, congenital skeletal anomalies and muscle hypertrophy. This syndrome is caused by a defect in the keratin 13 gene (KRT13), which causes dysfunction of cells of ectodermal origin, including keratinocytes, endothelial cells and ectodermal cells. Clinical symptoms of the syndrome may include hydrocephalus, congenital kidney defects, limb abnormalities, and other pathological changes. Treatment usually depends on the specific symptoms and complications and may include surgery, drug therapy, physiotherapy and rehabilitation. Understanding the genetic mechanisms and factors that cause the syndrome will allow us to develop more effective diagnostic and treatment methods and improve the prognosis for patients. The aim of the study was to demonstrate a clinical case of this extremely rare paediatric pathology, to show the peculiarities of its diagnosis and treatment. The peculiarity of this patient was a deformity (severe thickening) of the right foot at birth. In the process of growth, the deformity of the right foot increased, making it impossible to use standard shoes. The subcutaneous venous network on the right lower limb became stronger. The course of this disease and the treatment performed are described. Keywords: syndactyly, hypertrophy, foot, surgery, limb asymmetry, congenital anomaly.

Choledochal cyst type I in infant: a case report

Choledochal cysts are rare congenital anomalies characterized by dilatation of the bile ducts. The most frequent subtype of choledochal cyst is type I, which has fusiform dilatation of the common bile duct and poses significant challenges in diagnosis and management, particularly, in pediatric patients. We present a case report of a child diagnosed with a Type I choledochal cyst, detailing the clinical presentation, diagnostic workup, surgical intervention, and postoperative outcome. Early recognition and appropriate surgical management are crucial for optimal outcomes in children with this rare entity.

Ізольована гіпоплазія правого шлуночка: діагностика, лікування та досвід спостереження пацієнтів дитячого віку

Isolated hypoplasia of the right ventricle (IHRV) is a rare congenital heart defect characterized by a reduction of the right ventricular cavity due to hypoplasia of its trabecular part. Aim - to analyze the anatomical variants of IHRV and their influence on the choice of treatment tactics based on the experience of observing pediatric patients. Materials and methods. This retrospective study included 11 consecutive patients diagnosed with IHRV from 2012 to 2024. Patients were divided into 3 groups based on the ratio of RV to left ventricle (LV) length. The Group I (n=4): mild IHRV (RV/LV length ratio >0.8). The Group II (n=4): moderate IHRV (RV/LV length ratio = 0.7-0.8). The Group III (n=3): severe IHRV (RV/LV ventricle length ratio <0.67). Results. From the Group I (n=4), one patient required medication therapy with beta-blockers and others did not require any treatment. From the Group II (n=4), one patient underwent Glenn shunt and patent foramen ovale (PFO) closure, another - Glenn shunt and PFO closure with fenestration. Two patients have stable clinical conditions. Patients from the Group III (n=3) had duct-dependent pulmonary blood flow in the neonatal period. One patient received treatment with beta-blockers; the second patient underwent patent ductus arteriosus stenting; and the third - systemic-to-pulmonary shunt. Conclusions. Patients with severe IHRV may have critical hemodynamic disturbances requiring urgent cardiac surgical interventions, whereas patients with mild and moderate hypoplasia may require medical treatment with possible surgical intervention at a later age. Long-term follow-up in this defect reveals a slow progressive growth of the right heart chambers. The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the child and child's parents was obtained for the research. The authors declare no conflict of interest.