Congenital Anomalies Research Articles

The Frequency of Intraventricular Hemorrhage and its Risk Factors.

Intraventricular hemorrhage (IVH) (is the most prevalent type of cerebrovascular accident in premature infants, which can result in lasting neurological complications. The aim of this study was to ascertain the frequency of IVH and its associated risk factors within our particular context. This cross-sectional study was carried out in a tertiary neonatal intensive care unit of a maternal and neonatal hospital from September 2018 to August 2019. Premature infants under 34 weeks of age and with birth weight < 1500 grams who did not have significant congenital anomalies participated in the study. A brain ultrasound was performed by a sonologist during the first week. The infants were subsequently categorized into two groups: those with and without IVH. A comparative analysis was conducted using the chi-square test and logistic regression. A significance level of p<0.05 was considered statistically significant. Of the 205 premature infants who completed the study, IVH was reported in 107 cases (52.1%), of which 97.3% of ventricular hemorrhages were grade I and II and 2.7% accounted for severe bleeding (grade III and IV). Gestational age less than 28 weeks, weight less than 1000 g, vaginal delivery, asphyxia and resuscitation, history of intubation and mechanical ventilation, cord blood acidity, dopamine infusion, and history of fever and chorioamnionitis in the mother have been found to be significantly associated with increased risk of IVH (p<0.001). Antenatal corticosteroids decreased the risk (OR=10.63). In this study, IVH has been found to be common in infants under 1500 g of weight, but the severe form was low in frequency and was observed significantly in high-risk pregnancies.

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies for clinical features in all organ systems as well as molecular data. The most common clinical diagnosis was Noonan Syndrome and the most frequently affected gene was PTPN11 followed by SOS1, RAF1, LZTR1, and RIT1. All patients had distinctive craniofacial features indicative of the RASopathy spectrum but we report some atypical features regarding craniofacial shape, such as craniosynostosis and microcephaly. We also describe uncommon clinical characteristics such as aortic dilation, multivalvular heart disease, abnormalities of the posterior fossa, and uterine congenital anomalies in female patients. Furthermore, the presence of multiple giant cell granulomas was observed specifically in patients with SOS1 variants. This comprehensive evaluation allows broadening the phenotypic spectrum of our population and their correlation with the genotype, which are essential to improve the recognition and the follow up of RASopathies as a multisystemic disease.

Esophageal achalasia presenting as recurrent pneumonia in children: A case series.

Esophageal achalasia (EA) is a rare primary esophageal motility disorder that is considered a rare etiology of dysphagia among infants and children. The proposed primary pathophysiology is related to the loss of ganglion cells in the distal esophageal sphincters, particularly in the Auerbachian muscle layer, which then leads to the dysmotility and failure of lower esophageal sphincter relaxation. Dysphagia, vomiting, poor weight gain, cough, and recurrent aspiration pneumonia are the most common presenting complaints. Herein, we report 3 cases of EA who presented with chronic cough and recurrent aspiration pneumonia. This study reviewed 3 pediatric patients with typical symptoms of EA. All the patients were admitted and referred to the pediatric pulmonology service for evaluation of recurrent pneumonia and suspected aspiration syndrome. All patients underwent a barium esophagogram as a part of the aerodigestive workup of recurrent vomiting, dysphagia, and aspiration pneumonia. Additionally, all the patients underwent workup for other associated congenital anomalies, which included echocardiography, brain magnetic resonance imaging, and an abdominal ultrasound. All patients had EA and presented with recurrent pneumonia. All patients had isolated EA, and none had any evidence of Allgrove syndrome. Pneumatic balloon dilatation was performed for all patients at the same time as the upper gastrointestinal endoscopy. Later, all the patients underwent a laparoscopic Heller myotomy and had no postoperative complications, and their symptoms resolved. EA is a rare condition in children, yet it can be a serious and life-threatening condition if left untreated. Our cases emphasize the significance of considering achalasia in children who experience esophageal dysphagia and recurrent pneumonia. Several pediatric cases have been reported in which respiratory involvement was the primary manifestation of achalasia. These cases highlight the importance of considering gastrointestinal disorders, particularly EA, in the differential diagnosis of children who experience recurrent pneumonia. Early diagnosis and treatment with laparoscopic Heller myotomy can lead to good outcomes for children with achalasia.

Middle Ear Malformations

Middle ear malformations (MEMs) represent a diverse group of congenital anomalies with significant implications for auditory function. These malformations, which occur in approximately 0.5 to 3% of conductive hearing loss cases, can arise from various genetic and environmental factors. They often manifest unilaterally and may occur in isolation or as part of a syndromic condition. MEMs are closely associated with abnormalities of the external ear and less frequently with inner ear anomalies.Embryologically, the middle ear develops from the first and second pharyngeal arches, with interactions between the ectoderm and endoderm contributing to the formation of essential structures such as the tympanic membrane, ossicles and Eustachian tube. Disruptions in these developmental processes can lead to a spectrum of MEMs, ranging from minor defects to severe malformations affecting multiple middle ear components.Clinical management of MEMs requires a multidisciplinary approach, involving otolaryngologists, pediatricians, and audiologists. Early intervention with appropriate hearing aids, including conventional hearing aids and bone conduction devices, is essential to mitigate the impact of conductive hearing loss on speech and language development, particularly in children.Surgical planning involves comprehensive preoperative assessment, including high-resolution computed tomography imaging to evaluate middle ear anatomy, the facial nerve course, and vascular anomalies. Traditional surgical approaches such as stapesplasty and tympanoplasty remain mainstays for correcting specific middle ear defects, while advances in technology have expanded the role of active middle ear implants in treating special cases.In conclusion, MEMs represent a heterogeneous group of congenital anomalies with diverse etiologies and clinical implications. A thorough understanding of their embryological basis, genetic underpinnings, and surgical management strategies is crucial for optimizing outcomes in affected individuals.

Malformations of Cortical Development: Updated Imaging Review.

Malformations of cortical development (MCD) are structural anomalies that disrupt the normal process of cortical development. Patients with these anomalies frequently present with seizures, developmental delay, neurologic deficits, and cognitive impairment, resulting in a wide spectrum of neurologic outcomes. The severity and type of malformation, in addition to the genetic pathways of brain development involved, contribute to the observed variability. While neuroimaging plays a central role in identifying congenital anomalies in vivo, the precise definition and classification of cortical developmental defects have undergone significant transformations in recent years due to advances in molecular and genetic knowledge. The authors provide a concise overview of embryologic brain development, recently standardized nomenclature, and the categorization system for abnormalities in cortical development, offering valuable insights into the interpretation of their neuroradiologic patterns. ©RSNA, 2024 Supplemental material is available for this article. The slide presentation from the RSNA Annual Meeting is available for this article.

Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study.

There is currently no consensus about managing upper airway obstruction (UAO) in infants with Robin sequence (RS), in terms of treatment efficacy or clinical outcomes. This study describes UAO management in UK/Ireland, and explores relationships between patient characteristics, UAO management, and clinical outcomes in the first 2 years of life. Active surveillance of RS throughout UK/Ireland via the British Paediatric Surveillance Unit and nationally commissioned cleft services. Clinical data were collected at initial notification and 12-month follow-up. 173 infants with RS were identified, of which 47% had additional congenital anomalies or an underlying syndrome (non-isolated RS). Two-thirds (n = 119) required an airway intervention other than prone positioning: non-surgical in 84% and surgical (tracheostomy) in 16%. Nasopharyngeal airway (NPA) was the most common intervention, used in 83% (n = 99) for median 90 days (IQR 136). Surgical UAO management was associated with prolonged hospital admission, higher prevalence of neurodevelopmental delay (NDD), lower weight-for-age z-scores, and delayed oral feeding. These findings were not attributable to a higher prevalence of non-isolated RS in this group. Although more commonly associated with non-isolated RS, growth faltering was also identified in 48%, and NDD in 18%, of cases of isolated RS. In UK/Ireland, most infants with RS are managed with NPA, and tracheostomy is reserved for refractory severe UAO. Clinical outcomes and duration of use indicate that NPA is a safe and feasible first-line approach to UAO. Longitudinal assessment of neurodevelopment and growth is imperative, including in children with isolated RS. Current variations in practice reinforce the need for evidence-based treatment guidelines.

Association Between Congenital Heart Disease-Related Diagnosis Codes and Trauma Surgery Outcomes.

Congenital heart disease (CHD) is one the most common congenital anomalies, with a prevalence of 8-10 cases per 1000 live births in the United States. Congenital heart disease has been recognized as a risk factor for poor perioperative and postoperative outcomes in non-cardiac surgery. We aimed to determine if documentation of CHD-related diagnosis codes was associated with similar risks for trauma surgery. Data were acquired from the 2010-2019 American College of Surgeons' Trauma Quality Programs Participant Use Files. This study included trauma patients of all ages with one or more surgical procedures and at least one documented non-trauma (comorbidity) International Classification of Diseases code. Patients were stratified based on presence of CHD-related comorbidity codes vs any other comorbidity. Outcomes included mortality, hospital length of stay (LOS), discharge disposition, and in-hospital complications. Using 1:1 propensity score matching, we matched 215 cases with CHD-related comorbid diagnoses to non-CHD controls. Compared to patients with other comorbidities, patients with CHD-related comorbidites were less likely to be discharged home to self-care (odds ratio: 0.44, 95% confidence interval [CI]: 0.25, 078 P = .005) and tended to have prolonged hospital LOS (incidence rate ratio [IRR]: 1.06, 95% CI: 1.001, 1.13, P = .046). We present the first quantitative multicenter analysis correlating documentation of comorbid CHD-related diagnoses with higher risk of adverse outcomes after trauma surgery. These results support the need to routinely acknowledge and document CHD as comorbidity in trauma admissions that could lead to surgical intervention and for trauma centers to prepare for patients with a possible CHD comorbidity.

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and it is typically inherited in an autosomal dominant manner, with 50% of cases involving gain-of-function mutations in the PTPN11 gene. De novo mutations are common, accounting for 60% of cases. The phenotype of Noonan syndrome includes characteristic facial and physical features, congenital cardiac defects, lymphatic and cerebrovascular anomalies, renal malformations, hematological abnormalities, developmental issues, and an increased risk of cancer. Severe congenital cardiac defects and lymphatic abnormalities significantly impact prognosis, contributing to increased morbidity and mortality. Recent therapeutic advancements have introduced trametinib, an MEK1/2 inhibitor, for treating Noonan syndrome patients with severe cardiac and lymphatic complications. To assess its efficacy, here, we present a case of a newborn with Noonan syndrome who exhibited refractory chylothorax, ventricular hypertrophy, and pulmonary stenosis who was treated with trametinib. The patient demonstrated significant improvement in chylothorax and left ventricular hypertrophy, though pulmonary stenosis persisted. This case further confirms trametinib’s potential as a therapeutic option for severe Noonan syndrome complications, emphasizing the need for further clinical trials to optimize treatment protocols and evaluate long-term outcomes.

The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments

Background and Objectives: Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g., translocations, inversions, copy number variants), an increase in sperm aneuploidy, fetal microchimerism, severe skewing of X chromosome inactivation, and various gene polymorphisms. Our study aims to explore the value of routine conventional parental karyotyping in couples with RPL. Materials and Methods: A total of 213 couples (426 individuals) with a history of RPL were enrolled in this retrospective study. The peripheral blood samples included in this study were referred to the Human Genomics Laboratory of the University of Medicine and Pharmacy in Craiova, Romania, for conventional cytogenetic analysis between January 2013 and December 2023, by the Outpatient Medical Genetics Clinic of the Emergency Clinical County Hospital of Craiova. Chromosome analysis was performed using standard protocols and karyotypes were reported according to ISCN. Results: Out of 426 patients provided with conventional G-banded chromosome analysis, 410 had a normal karyotype (96.2%) and 16 had chromosome abnormalities (3.8%). The most common chromosomal abnormalities were reciprocal and Robertsonian translocations, with chromosomes 8, 11, 14, and 21 being most frequently involved. A single numerical anomaly was detected (47,XYY). One or multiple chromosomal polymorphisms were identified in 104 subjects (24.4%). In addition, we conducted a stratified analysis of the unselected group and detected chromosome abnormalities in only four cases (0.94%). Conclusions: Our results are consistent with recommendations for paternal karyotyping after an individual risk assessment in instances such as a previous live birth with congenital anomalies and/or the detection of unbalanced chromosomes or a translocation in product of conception or chorionic villi/amniotic fluid samples. In the absence of a positive history, blindly karyotyping couples may prove too expensive and labor intensive, while providing no information on fertility status or live birth rates.

Radioanatomy of the Petrous Bone

The high-resolution computed tomography (HRCT) scan used in the 1980s offers a distinct advantage in interpreting images of the temporal bone. To obtain a right image reconstruction and to provide meaningful information, a certain degree of tilt is required so that radiologists and clinicians can get more real imaging information on structural abnormalities in the temporal bone and its soft tissue constituents. The technique or protocol in HRCT of the temporal bone becomes an essential primary aspect in presenting the analyzed structure, the assessment of the small form of the auditory bones, the soft tissue of the inner ear and the cranial nerves that pass through the temporal bone structure is much easier to analyze, of course with the help of reconstruction according to the HRCT protocol for temporal bone, however, soft tissue evaluation is preferable to MRI. In the end, the standard structure, congenital abnormalities and pathological problems in the temporal bone structure can be identified and informed to the clinician as a step to determine further treatment action.

SACROCOCCYGEALTERATOMA

INTRODUCTION Sacrococcygeal teratomas are the most common of all the GCTs in pediatric age group that originate from the totipotent cells from Hansen\\\'s node or primitive germ cells.(1) incidence is approximately 1 in 40,000 live births with a male to female ratio of 1:3–1:4.Huge and highly vascular SCTs,may result in massive hemorrhagic complications. CASE REPORT A 5 day old male baby delivered via LSCS at 36 WOG was admitted to NICU due to large sacrococcygeal teratoma (20X15cms). The neonate had no other congenital abnormality. Total weight of neonate was 2.7kgs of which tumor was approximately 700gm. Ct Abdomen and pelvis Revealed Type 2 Mature sacrococcygeal teratoma with intrapelvic and large extrapelvic component with Spina bifida occulta and surgical removal of tumour was performed DISCUSSION: Sacrococcygeal tumors can be diagnosed antinatally,the cases with antenatal diagnosis are at a high risk of perinatal complications and fetal death from high output cardiac failure. Early surgical Management in above case and Good postoperative care, minimal blood loss during procedure resulted in Good outcome (2) CONCLUSION Mature sacrococcygeal teratoma appear to be benign in nature and complete surgical resection is main stay of treatment REFERENCES 1)Yadav DK, Acharya SK, Bagga D, Jain V, Dhua A, Goel P. Sacrococcygeal Teratoma: Clinical Characteristics, Management, and Long-term Outcomes in a Prospective Study from a Tertiary Care Center. J Indian Assoc Pediatr Surg. 2020 Jan-Feb;25(1):15-21. 2) Shrestha HK, Shrestha RG. Sacrococcygeal Teratoma: A Case Report. JNMA J Nepal Med Assoc. 2020 Jul 31;58(227):508-511

COVID-19 and Its Potential Impact on Children Born to Mothers Infected During Pregnancy: A Comprehensive Review.

Pregnancy is a vulnerable period of time during which pregnant people are prone to infections like COVID-19, which can increase risks for both the mother and fetus. These infections may lead to complications such as preterm birth, developmental delays, and congenital abnormalities. While COVID-19 poses additional risks like placental dysfunction and neonatal infections, studies on long-term effects remain limited. Ongoing research and monitoring are essential to understand and mitigate potential cognitive and developmental challenges in children born to mothers infected with COVID-19. This review aims to guide clinicians in managing these risks throughout childhood. Maternal COVID-19 infection during pregnancy can have significant implications for fetal development, even if the newborn is not infected at birth. The release of inflammatory cytokines may cross the placental barrier, potentially disrupting fetal brain development and increasing the risk of long-term cognitive and behavioral issues, such as ADHD or autism. Placental dysfunction, caused by inflammation or thrombosis, can lead to intrauterine growth restriction (IUGR), preterm birth, or hypoxia, affecting both neurological and respiratory health in newborns. Furthermore, a compromised fetal immune system can increase susceptibility to autoimmune conditions and infections. The early diagnosis and management of infections during pregnancy are crucial in mitigating risks to both the mother and fetus. Swift intervention can prevent complications like preterm birth and long-term developmental challenges, ensuring better health outcomes for both the mother and child. Long-term monitoring of children born to mothers infected with COVID-19 is necessary to understand the full extent of the virus's impact. This review evaluates the long-term systemic effects of maternal COVID-19 infection during pregnancy on fetuses, newborns, and children, focusing beyond vertical transmission. It highlights the broader impacts on fetal development, offering insights to help clinicians manage potential issues that may arise later in life.

Whole Blood Transcriptome Analysis in Congenital Anemia Patients.

Congenital anemias include a broad range of disorders marked by inherent abnormalities in red blood cells. These abnormalities include enzymatic, membrane, and congenital defects in erythropoiesis, as well as hemoglobinopathies such as sickle cell disease and thalassemia. These conditions range in presentation from asymptomatic cases to those requiring frequent blood transfusions, exhibiting phenotypic heterogeneity and different degrees of severity. Despite understanding their different etiologies, all of them have a common pathophysiological origin with congenital defects of erythropoiesis. We can find different types, from congenital sideroblastic anemia (CSA), which is a bone marrow failure anemia, to hemoglobinopathies as sickle cell disease and thalassemia, with a higher prevalence and clinical impact. Recent efforts have focused on understanding erythropoiesis dysfunction in these anemias but, so far, deep gene sequencing analysis comparing all of them has not been performed. Our study used Quant 3' mRNA-Sequencing to compare transcriptomic profiles of four sickle cell disease patients, ten thalassemia patients, and one rare case of SLC25A38 CSA. Our results showed clear differentiated gene map expressions in all of them with respect to healthy controls. Our study reveals that genes related to metabolic processes, membrane genes, and erythropoiesis are upregulated with respect to healthy controls in all pathologies studied except in the SLC25A38 CSA patient, who shows a unique gene expression pattern compared to the rest of the congenital anemias studied. Our analysis is the first that compares gene expression patterns across different congenital anemias to provide a broad spectrum of genes that could have clinical relevance in these pathologies.

ACUTE RESPIRATORY DISTRESS REVEALING A COMPLETE ATRIOVENTRICULAR CANAL IN A 22-MONTH INFANT

The atrioventricular canal (AVC) is a complex and rare congenital cardiac anomaly. It is potentially severe due to the complexity of its lesions and associated fixed pulmonary arterial hypertension. We report the case of a 22-month-old infant girl with Trisomy 21 syndrome, admitted for acute respiratory distress. TTE showed a complete AVC with pulmonary arterial hypertension. Prognosis depends on the promptness of diagnosis and therapeutic management.

Congenital Heart Disease among Neonates in a Neonatal Unit of a Tertiary Care Hospital

Objective: To determine the pattern of Congenital Heart Disease among neonates in a neonatal unit of a tertiary care hospital. Study Design: Cross-sectional study. Place and Duration of Study: The study was conducted at Neonatal Intensive Care Unit of Pak Emirates Military Hospital, Rawalpindi Pakistan, from Aug 2020 to Jan 2021. Methodology: A total of 287 participants were enrolled in the study using non-probability consecutive sampling. Echocardiogram was used as a tool to diagnose congenital heart disease. Results: Among 287 neonates, the mean weight was 2.36±0.73 kg with 49.5% being males and 50.5% females. Most of the neonates were delivered by Lower Segment Cesarean Section (227, 79.1%), while rest (60, 20.9%) were by spontaneous vaginal delivery. Neonates were mostly born at full term (159, 55.4%), followed by preterm (99, 34.5%), and early term (29, 10.1%). Only 34(11.8%) of the neonates showed any Congenital Heart Disease. Ventricular Septal Defect was the most common Congenital Heart Disease defect (15, 44.1%), followed by Patent Ductus Arteriosus (10, 29.4%) and Teratology of Fallot (4, 11.8%), while least common was Pulmonary Atresia (1, 2.9%). The relationship of Congenital Heart Disease with gender, mode of delivery, gestational age, and outcome of the neonate was found to be not significant. Conclusion: A small proportion of the neonates had Congenital Heart Disease with no significant relationship with gender, delivery mode, gestational age, and outcome of the neonate.

Biliary Reconstruction with Hepaticoduodenostomy Versus Hepaticojejunostomy After Choledochal Cyst Resection: A Narrative Review.

Choledochal cysts (CCs), a congenital anomaly resulting in the abnormal dilation of the biliary ductal system, are most often identified in patients younger than 10 years of age. Regardless of clinical presentation, the cornerstone of therapy for CCs is complete surgical excision with reconstruction with either hepaticoduodenostomy or hepaticojejunostomy. Although both procedures are used by surgeons for the correction of CCs, evidence on clinical outcomes following both approaches is inconclusive as to which may offer superior reconstruction. This narrative review aims to compare the current literature regarding both approaches by evaluating their anatomic and operative considerations, as well as their perioperative, postoperative, and long-term outcomes. Future studies should closely focus on long-term, comparative outcomes, including the risk of biliary malignancy, and refine techniques to minimize complications, such as biliary reflux and bowel obstruction, in order to improve care for pediatric patients undergoing treatment for CCs.

Hysterosalpingographic Pattern of Primary Sub-fertility and Secondary Sub-fertility in Women of Reproductive Age

Objective: To evaluate the structural abnormalities of uterus and fallopian tubes in women diagnosed with primary and Secondary Sub-fertility using hysterosalpingogram. Study Design: Cross-sectional study. Place and Duration of Study: Armed Forces Institute of Radiology and Imaging, Rawalpindi Pakistan, from Jul to Nov 2019. Methodology: This study investigated potential anatomical causes of primary and secondary subfertility in women of reproductive age. A total of 500 participants, referred from Gynecology and Obstetrics Departments, underwent hysterosalpingography during the pre-proliferative phase following comprehensive medical history assessment. Results: Out 500 women, 340(68.0%) had Primary Sub-fertility while 160(32%) had Secondary Sub-fertility. Mean age of presentation was 31.5±3.5 years. Bilateral free peritoneal spill was recorded in 340(68%) patients. Unilateral tubal blockage was present in 50(10%) patients while bilateral tubal blockage was observed in 40(8.0%) patients. Bilateral hydrosalpinx was present in 15(3 %) women. Patients with uterine congenital anomalies were also examined, and bicornuate uterus was seen in 25(5%) women and unicornuate uterus was noted in the same number, that is, 25(5%) women. Conclusion: Hysterosalpingography is a baseline assessment test done for evaluation of patency of uterus and uterine tubes. Positive hysterosalpingography cases were more prevalent in Secondary Sub-fertility. Tubal abnormalities were more commonly observed as compared to uterine cavity pathologies. Secondary Sub-fertility was found to be more associated with older age groups.

Histopathological Profile of Cholecystectomy Specimens at a Tertiary Care Center: A Retrospective Study

Abstract Introduction: Gallbladder is one of the most frequently received specimens in any histopathology laboratory. Its diseases may present with a varied spectrum ranging from congenital anomalies, cholelithiasis, and inflammatory or noninflammatory lesions to noninvasive and invasive neoplasms. Cholelithiasis (gallstones) is the most common lesion and accounts for more than 95% of gallbladder diseases and affects 10%–20% of the adult population. The incidence is 2–4 times higher in females than in males. Aims and Objectives: This study was designed to study the histopathological spectrum of gall bladder diseases in the population, study the most common gall bladder diseases in cholecystectomy specimens, and study the frequency of gall bladder carcinoma. Methodology: This retrospective observational study was done in the Pathology department at a tertiary care hospital and research center, from September 2016 to September 2023. Tissue was fixed in 10% buffered formalin and then processed by the routine paraffin embedding techniques. Sections were cut at 4–5 μ thickness and stained with hematoxylin and eosin stains. Special stains were done if required for confirmation. All the slides were analyzed and reported by a trained histopathologist. Results: Females were affected more as compared to males. The commonest age group affected was 41-50 years. Gallstones were observed in 33.58% of patients. Gallbladder neoplasm was rare and incidental findings. Conclusion: Gallbladder disease demonstrated a diverse spectrum of histopathological changes in the cholecystectomy specimens and showed female preponderance. Gallbladder carcinoma was observed as a rare occurrence and was an incidental finding mainly. Hence, a microscopic (histopathological) examination is required for every cholecystectomy specimen.

007. Distal Ileal Atresia and Total Colon Agenesis with Anorectal Malformation: A Case Report

Background: Atresia of the distal ileum and colon agenesis are rare conditions and can be the cause of obstructive symptoms. Case: A 1 day old baby girl complained of no anus since birth. The patient has no bowel movements or vomiting. The patient's stomach appears increasingly bloated. On physical examination of the abdomen revealed distension accompanied by difficult to hear bowel sounds. There was no anus or fistula in the patient but there is a dimple in the anus. Another abnormality found in the patient was the presence of CTEV on both of the patient's legs. The patient was planned for exploratory laparotomy and colostomy surgery. the length of the jejunum and ileum proximal to the ligament of Treitz was found to be 50 cm. The distal ileum, caecum, colon, rectum and anus were not found. An ileostomy was performed on this patient. The patient died 13 hours after surgery. Conclusion: Total colonic agenesis is a rare case and usually occurs with other congenital abnormalities. Early diagnosis and appropriate initial treatment are very important in this case. colonic agenesis causes congenital short bowel (CSB). CSB causes malabsorption due to inadequate intestinal length, which interferes with absorption. Staged surgery is a good option in the management of total colonic agenesis.

Choanal Atresia about Two Cases at the Hospital and University Center Gabriel Toure from Bamako (Mali)

Choanal atresia is a congenital defect in the permeabilization of the posterior end of the nasal cavities. Its bilateral form is responsible for respiratory distress that can be life-threatening. The unilateral form was suspected in view of the permanent unilateral right nasal obstruction. We report the observation of two clinical cases admitted to the Radiology and Medical Imaging department, CHU GT of Bamako (Mali). The aim of our study was to highlight the importance of screening for this condition at birth. Surgical treatment allowed us to obtain an overall success rate of 100%. Divulsion was used to pass the emergency stage after short-term palliative medical treatment in the case of bilateral choanal atresia. The operative techniques used were divulsion and nasal endoscopic route.