Case Of Agenesis Research Articles

Anterior circulation acute ischemic stroke due to vertebral artery ostial stenosis in a patient with congenital internal carotid artery agenesis: a case report

BackgroundCongenital agenesis of internal carotid artery (ICA) is a rare cerebrovascular variation entity. Most cases of congenital ICA agenesis are asymptomatic and discovered incidentally. Congenital ICA agenesis presenting as ischemic stroke is even rare.Case presentationAn 80-year-old male patient was admitted to our hospital due to sudden dysarthria and left limb weakness for 3.5 h. Based on emergency physical examination and head computed tomography (CT) scan results, acute ischemic stroke (AIS) of right cerebral hemisphere was suspected. Following intravenous thrombolysis with recombinant tissue plasminogen activator, right congenital agenesis of ICA was confirmed by CT and digital subtraction angiography. Additionally, there was a severe right vertebral artery ostial (VAO) stenosis. After ruling out common causes of AIS such as haematological diseases, arterial dissection, organic heart disease, immunological abnormality and underlying possible malignancies, we hypothesize that the severe stenosis of the right VAO may have contributed to the development of AIS in this case.ConclusionsWe present a case of right congenital ICA agenesis in which severe stenosis of the right VAO may have played a role in the development of AIS. This case underscores a rare scenario where a lesion in the posterior circulation leads to an infarction in the anterior circulation in the setting of congenital ICA agenesis.

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

Partial agenesis of the pectoralis major and minor muscle: A cadaveric case report.

The pectoralis major and minor muscles, located in the anterior chest wall, are crucial for upper limb movements. Their nonsyndromic absence is rare but significant for surgical procedures involving the axillary and pectoral regions. Ultrasound can confirm the diagnosis and delimit the extent of the muscular abnormality, detect abnormalities of the costal cartilages, among others. This descriptive, cadaveric case report involves a formalin-fixed 57-year-old North American male, with no clinical or family history of similar conditions. The study was conducted at the Human Anatomy Laboratory of the School of Medicine of the Universidad Finis Terrae in Santiago, Chile, in August 2022. We present a cadaveric case of bilateral partial agenesis of the pectoralis muscles discovered during routine dissection. The pectoralis major muscle exhibited only the clavicular portion, with the sternocostal and abdominal portions absent and replaced by a thin layer of connective tissue bilaterally. The pectoralis minor muscle showed partial muscle fibers only in the most distal and inferior portions bilaterally. This case report is significant due to the rarity of this condition without accompanying anatomical variations. Understanding this variant is valuable for clinical situations involving the shoulder and thorax region, such as trauma to the proximal third of the humerus, clavicular region, suprascapular region, and anterior chest wall. It may complicate conservative and/or surgical treatments due to different functional and irrigation patterns in the area and is also important for educating future professionals.

Agenesis of Left Hepatic Lobe: A Rare Congenital Anomaly. Case Report

Morphologic anomalies of the liver, as opposed to many other visceral organs, are very rare. Left lobe liver agenesis is defined as the absence of liver tissue on the left side of the liver in the absence of previous disease or surgery. It is commonly an accidental finding on imaging investigations or at the time of abdominal surgery. We report the case of left liver lobe agenesis diagnosed in a 68-year-old man with a history of urothelial carcinoma of the bladder, and the diagnosis of his liver congenital abnormality was made accidentally on a CT of chest-abdomen-pelvis (initially done to look for secondary localisations of his urothelial carcinoma). The main imaging findings of this condition are reviewed briefly, with associations and the most common differential diagnoses.

DENTAL AGENESIS OF UPPER LATERAL INCISORS: Case report in a patient from the city of Mato Verde - MG

Dental agenesis or also known as hypodontia, is established as a numerical anomaly that implies a lack of tooth development. The most frequently encountered agenesis, with the exception of third molars, is the upper lateral incisors. The objective of this study was to report a clinical case of agenesis of upper lateral incisors in a patient from the city of Mato Verde-MG. This is a qualitative study with observational/descriptive objectives. The research will be carried out in the municipality of Mato Verde-MG at Faculdade Verde Norte (FAVENORTE). Female patient, Caucasian, ten years old, attended the FAVENORTE clinic, together with her guardian, with the main complaint being: “Assessing the formation of permanent teeth, as she had already been diagnosed with agenesis of the deciduous upper lateral incisors”. On clinical examination it was observed that there was a lack of permanent upper lateral incisors. The radiographic examination confirmed the absence of the germs of the permanent upper lateral incisors, thus confirming the agenesis of these dental elements. Therefore, the patient was referred to the orthodontist, who prepared an individualized treatment plan for the patient. Early diagnosis is extremely important in cases of tooth agenesis, where professionals must pay attention to its characteristics, targeting treatment options for each case, thus obtaining a favorable prognosis and a better quality of life for the patient.

Bilateral internal carotid artery agenesis coexisting with bovine aortic arch: case report and literature review.

This case study aims to elucidate the rare occurrence of bilateral internal carotid artery agenesis combined with a bovine aortic arch. The main objectives are to explore the incidence, embryological origins, clinical manifestations, and associated anomalies of this unique vascular condition. The study involves a detailed investigation of a 55-year-old male with a history of recurrent transient ischemic attacks (TIAs) using MRI and CT scan. The patient's medical history, clinical examination, and imaging results were systematically analyzed to provide a thorough understanding of the anatomical variations. The main findings include the rare coexistence of bilateral ICA agenesis and a bovine aortic arch, making this the 39th documented occurrence of bilateral ICA agenesis and the first recorded instance of its association with a bovine aortic arch. Also, the study highlighted the demographic characteristics, clinical presentations, and associated anomalies observed in the 38 documented cases of bilateral internal carotid artery agenesis. This case report contributes valuable insights into the rarity of bilateral internal carotid artery agenesis and its unprecedented association with a bovine aortic arch. The findings emphasize the importance of heightened anatomical awareness in clinical practice, particularly. Recognizing and understanding such variations is crucial for accurate diagnosis, appropriate management, and improved patient outcomes. Further research in this area is warranted to deepen our understanding of these complex vascular anomalies.

Murcs Association: A most severe form of Mayer-Rokitansky-Küster-Hauser Syndrome, case report and literature review

BACKGROUND Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital abnormality of sexual development characterized by an aplastic or hypoplastic uterus, as well as the absence of the cervix and the upper third of the vagina. It may be limited to the reproductive tract (MRKH type 1), or in association with abnormalities of the extragenital tract, usually of renal and skeletal origin (MRKH type 2). The presence of a pattern of multiple anomalies has been described, specifically characterized by aplasia of the Müller ducts (MU), renal aplasia (R), and alterations of the cervicothoracic somite (CS), which has been called the MURCS association. METHODOLOGY A search was performed in the Medline database via PubMed using the following terms: “Mayer–Rokitansky–Küster–Hauser Syndrome”, “Mullerian anomalies”, “genetics of agenesis/hypoplasia of the uterus and vagina”, “uterine cervical aplasia and agenesis”, from 1979 to 2023, a total of 316 studies were found, 58 studies were selected that included women with a diagnosis of MRKH or MURCS association. CASE REPORT A 34-year-old woman attends a gynecologist evaluation presenting primary amenorrhea, with external genitalia with normal development, but has multiple spinal abnormalities. The image reports the absence of the uterus and the superior two-thirds of the vagina, renal aplasia, scoliosis, and cervical, thoracic, and lumbar spinal abnormalities. CONCLUSIONS Mullerian abnormalities are a set of abnormalities of sexual development in which the development of the uterus, fallopian tubes, and vagina are mainly affected. Within this group, there is MRKH syndrome. In these variants of GREB1L (estrogen growth regulation gene in breast cancer type 1 gene), variants have been reported in familiar cases of bilateral renal agenesis. Establishing the cause of these clinical entities is controversial, making it difficult to deny or affirm whether the atypical forms of the MRKH syndrome and the MURCS association belong to the same phenotypic spectrum originating from common or related causes or simply different entities.

RARE ANATOMIC VARIATIONS: AGENESIS OF LEFT MENTAL FORAMEN COEXISTING WITH TWO RIGHT MENTAL FORAMINA

Knowledge about the proximity of important anatomical structures is crucial for all surgical interventions, including those in the lower jaw region. One of these important structures is the mental foramen, which transmits the mental nerve, whose branches provide sensory innervation to the chin, lower lip, and gingiva. The mental foramen variations can influence the effectiveness of the mental nerve anesthesia and can also be related to complications during surgical procedures such as implant placement, apicoectomy, vestibuloplasty, etc. We present a very rare case of agenesis of left mental foramen coexisting with two right mental foramina incidentally found in a patient examined by cone-beam computed tomography.

Agenesis of all premolars – the first reported case

Abstract The agenesis of teeth is the most common developmental anomaly in humans. Although third molars, mandibular second premolars, maxillary lateral incisors and maxillary second premolars are frequently found to be missing, the absence of all premolars has never been reported in the literature. This case report highlights the first-ever case of the complete agenesis of premolars in a 10-year-old male patient. It also discusses related definitions; commonly missing teeth and their prevalence; associated dental and skeletal features; genetic, drug-related and pathogenic etiological factors; and considerations for the future management of such cases.

Prevalence and clinical profile of renal agenesis: Case series and retrospective study from 2019 to 2023

Background and objective. Renal agenesis is a rare condition with complex causes, often involving genetic and environmental factors, though the exact triggers remain elusive. Studies have suggested an increased prevalence of renal agenesis. This study aims to evaluate the prevalence of renal agenesis and types of associated anomalies in newborns. Materials and methods. We performed a retrospective analysis of medical records of the newborns diagnosed with renal agenesis at the regional Level III unit between 2019 and 2023. All infants admitted to our maternity hospital during the study period were included. Stillbirths and fetal deaths were excluded. Neonatal, maternal, and paternal information was extracted from the neonatal medical charts. Statistical analysis was performed using IBM SPSS Statistics 23. Results. Within a cohort of 15,091 live births registered during the study period (2019-2023), 9 cases of renal agenesis were identified, corresponding to a prevalence of 1:1,677 live births. Four cases (44%) were prenatally diagnosed; 8 patients had unilateral agenesis, left-sided in 55.5% of cases. The mean gestational age at birth was 37.4 ± 4.2 weeks (28-41 weeks), while the mean neonatal weight at birth was 2,952.2 ± 1,076.2 g (range 960-4,110 g). Multiple significant malformations were found in three of the nine patients with renal agenesis. Three patients died during the neonatal period, two within the first 24 hours of life, and one at 13 days postpartum. Conclusions. Our retrospective study on renal agenesis revealed an increased prevalence of this congenital defect and an increased incidence of associated congenital abnormalities. Renal agenesis, bilateral or in association with other severe congenital defects, is associated with an increased rate of death.

Long-Term Outcomes, Including Fetal and Neonatal Prognosis, of Renal Oligohydramnios: A Retrospective Study over 22 Years

To assess the long-term outcome of renal oligohydramnios and risk factors for fetal, neonatal, and postneonatal death. This retrospective cohort study included fetuses with prenatally detected renal oligohydramnios between 2002 and 2023. Patients who were lost to follow-up were excluded. Fetal, neonatal, and long-term outcomes were evaluated, and their risk factors were analyzed. Of 131 fetuses with renal oligohydramnios, 46 (35%) underwent a termination of pregnancy, 11 (8%) had an intrauterine fetal death, 26 (20%) had a neonatal death, nine (7%) had a postneonatal death, and 39 (30%) survived. Logistic regression analyses showed that an earlier gestational age at onset (odds ratio 1.16, 95% confidence interval (CI) 1.01-1.37) was significantly associated with intrauterine fetal death; anhydramnios (odds ratio 12.7, 95% CI 1.52-106.7) was significantly associated with neonatal death as a prenatal factor. Although neonatal survival rates for bilateral renal agenesis, bilateral multicystic dysplastic kidney (MCDK), and unilateral MCDK with contralateral renal agenesis were lower than for other kidney diseases, one case of bilateral renal agenesis and two of bilateral MCDK survived with fetal intervention. Kaplan-Meier overall survival rates were 57%, 55%, and 51% for 1, 3, and 5 years, respectively. In the Cox proportional hazards model, birth weight <2000 g (hazard ratio 7.33, 95% CI 1.48-36.1) and gastrointestinal comorbidity (hazard ratio 4.37, 95% CI 1.03-18.5) were significant risk factors for postneonatal death. Long-term survival following renal oligohydramnios is a feasible goal and its appropriate risk assessment is important.

Complete Agenesis of Right Half of Soft Palate—A Case Report

AbstractAgenesis of soft palate is an extremely rare occurrence and is usually seen in conjunction with other congenital anomalies like Nager syndrome, Treacher Collins syndrome, and multiple congenital anomalies. Only a handful of isolated complete agenesis of one half of the soft palate has been reported in literature. Despite extensive literature review, incidence of such a case is practically unheard of. We present to you a case checking all the above boxes. We present this case of agenesis of right half of soft palate that was managed by our technique.

Agenesis of the Celiac Trunk, A Rare Vascular Variant: A Case Report

Vascular anatomical variants of the abdomen are very frequent. Knowledge of these variants is of paramount importance in clinical practice, particularly in surgery, because of the related therapeutic implications. Agenesis of the celiac trunk is one of the rare anatomical variants of the abdominal aorta. A limited number of cases have been reported in the medical literature. We report a case of agenesis of the celiac trunk, with separate emergence of its three branches directly from the abdominal aorta, discovered incidentally during a computed tomography (CT)scan performed as part of extension assessment of gallbladder adenocarcinoma.

Rare type of tracheal agenesis: Unexpected presentation and immediate consideration of emergent esophageal intubation in neonatal resuscitation program. Case reports and review of the literature.

Tracheal agenesis, or tracheal atresia, is a rare congenital anomaly. The presence of a tracheoesophageal fistula (TEF) can help with breathing for newborns with tracheal agenesis. In this article, we presented three unique cases and outcomes of neonates with tracheal agenesis along with a review of the literature. This study consisted of a single center case series followed by a review of literature. Case reports were generated using both written and electronic medical records from a single hospital. We summarized three unique cases and outcomes of neonates with tracheal agenesis and performed a review of the literature. We identified three cases of tracheal agenesis presented with severe cyanosis without spontaneous crying upon birth. Experienced pediatricians attempted to intubate the babies but were unsuccessful. Endotracheal tubes were subsequently either accidentally or purposely placed into the esophagus, and oxygen saturation levels improved. This suggested tracheal agenesis with TEF. Two cases underwent surgical intervention after resuscitation with esophageal intubation. Esophageal intubation may be a life-sustaining ventilation support for patients with tracheal agenesis and TEF at initial resuscitation. Clinicians should suspect tracheal agenesis when a newborn presents with severe cyanosis and voiceless crying upon birth, and esophageal intubation should be immediately attempted.

Inferior Vena Cava Agenesis associated with Deep Venous Thrombosis: Case Report

Inferior vena cava agenesis is a rare congenital venous malformation, with a prevalence ranging from 0.0005 to 1% of the world's population. The present study aims to describe a case of agenesis of the inferior vena cava associated with deep vein thrombosis (DVT) in a young patient and the difficulty in maintaining adequate anticoagulation. We report the case of a 22-year-old woman who had her first thrombotic event as a child, in the renal vein, and was anticoagulated. At age 20, she had a thrombotic event in the iliac vein and went back on anticoagulation, but with adequate control of coagulation, the patient decided when to stop and return to anticoagulation without medical advice. The diagnosis of agenesis was confirmed by tomography and phlebography. Currently, she was maintained on anticoagulation and warned about the risks of the disease and inadequate anticoagulation.

Multidisciplinary Management of Bladder Agenesis and Anorectal Malformations in Female Patients: A Case Series

Bladder agenesis is an exceedingly rare congenital anomaly with an estimated incidence of 1 in 600,000 [1,2]. Patients born with bladder agenesis carry a poor prognosis due to its association with renal impairment and defects of other organ systems, including the reproductive tract, vascular system, and neurologic system [2-4]. About 90% of those born with bladder agenesis are female, with an estimated female-to-male ratio of 30:1 [1,2]. Herein, we present two cases of bladder agenesis and one case of bladder dysgenesis in female patients; two underwent successful ileal neobladder creation and one underwent incontinent colonic conduit creation.

A RARE CASE OF OVARIAN AGENESIS AND HYPOPLASTIC UTERUS IN A PREPUBERTALGIRL WITH NORMAL 46, XX KARYOTYPE

Delayed onset of puberty and primary amenorrhea pose diagnostic challenges, often associated with diverse etiologies including hypothalamic-pituitary disorders, gonadal dysgenesis, and müllerian duct malformations.Historically, such syndromes have been associated with XY chromosomal components, but rare cases in karyotypically normal females (46, XX) have been reported. Comparisons with similar cases, including atypical forms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndromeare made, highlighting the rarity of this condition. Despite advancements, the genetic basis remains unspecified, underscoring the need for further research. We present a unique case of gonadal agenesis and hypoplastic uterus in a 46,XX individual, without associated organ system anomalies, contributing to primary amenorrhea. Diagnostic evaluations including hormonal assessment, and pelvic MRI confirmed the absence of ovaries and severe hypoplasia of paramesonephric duct (PMND) derivatives. Treatment with 17beta estradiol successfully induced puberty, highlighting the clinical importance of timely intervention. Early detection of such cases is crucial for providing comprehensive support and improving patient outcomes.

Assessment of fetal corpus callosum biometry by 3D super-resolution reconstructed T2-weighted magnetic resonance imaging.

To assess the accuracy of corpus callosum (CC) biometry, including sub-segments, using 3D super-resolution fetal brain MRI (SR) compared to 2D or 3D ultrasound (US) and clinical low-resolution T2-weighted MRI (T2WS). Fetal brain biometry was conducted by two observers on 57 subjects [21-35 weeks of gestational age (GA)], including 11 cases of partial CC agenesis. Measures were performed by a junior observer (obs1) on US, T2WS and SR and by a senior neuroradiologist (obs2) on T2WS and SR. CC biometric regression with GA was established. Statistical analysis assessed agreement within and between modalities and observers. This study shows robust SR to US concordance across gestation, surpassing T2WS. In obs1, SR aligns with US, except for genu and CC length (CCL), enhancing splenium visibility. In obs2, SR closely corresponds to US, differing in rostrum and CCL. The anterior CC (rostrum and genu) exhibits higher variability. SR's regression aligns better with literature (US) for CCL, splenium and body than T2WS. SR is the method with the least missing values. SR yields CC biometry akin to US (excluding anterior CC). Thanks to superior 3D visualization and better through plane spatial resolution, SR allows to perform CC biometry more frequently than T2WS.

A rare case of asymptomatic left lung agenesis in an adult woman.

A rare case of asymptomatic left lung agenesis in an adult woman.

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

BackgroundIn this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant’s life.ResultsAutopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called ‘pig bronchus’ and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical.ConclusionTracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.