The document discusses the embryological development of the gastrointestinal tract. It describes how the foregut, midgut, and hindgut develop from the primordial gut tube and how their development and rotation leads to the normal anatomy. It further discusses common anomalies that can occur due to disruptions during development, such as esophageal atresia, intestinal atresia, Hirschsprung's disease, and anorectal malformations. Precise spatial and temporal gene regulation governs gastrointestinal development, and perturbations can result in congenital anomalies.
1. The prostate is a gland located below the bladder and above the urethra. It is roughly the size and shape of a chestnut.
2. The prostate has zones including a peripheral zone that makes up 75% of glandular tissue and a central zone that makes up 25%.
3. The prostate surrounds the urethra as it passes through the prostate. Prostatic ducts open into the urethra to secrete fluid that contributes to semen.
The document provides guidance on managing upper gastrointestinal hemorrhage. It discusses initial assessment and resuscitation, determining the bleeding site, and treatment approaches. Non-operative treatments include endoscopic methods for peptic ulcers and varices, as well as pharmacologic therapies. Operative options are considered for more severe or refractory bleeding and include procedures like duodenotomy, gastric wedge resection, and surgical shunts for varices. Both non-operative and operative management aim to stop the bleeding, prevent recurrence, and treat underlying causes.
The development of the heart occurs in several key stages:
1. Angiogenic cell clusters form in the lateral plate mesoderm and proliferate to form the initial heart tube structure.
2. The heart tube fuses into a single tube and develops an inner endocardial layer and outer myocardial layer.
3. The heart tube loops from right to left, forming the basic four-chamber structure of the heart. Local expansions form the atria, ventricles, and outflow tracts.
4. Partitioning occurs - endocardial cushions form and divide the atria and ventricles, while ridges partition the outflow tracts into the aorta and pulmonary trunk. This
The perineum is the region between the pubic symphysis and coccyx. It includes the external genitalia and anal canal. The perineum is divided into the urogenital triangle anteriorly, containing the vagina in females, and the anal triangle posteriorly, containing the anus. The pudendal canal runs through the ischioanal fossae, containing vessels and nerves, including the pudendal nerve which innervates the perineum. The urogenital diaphragm spans the urogenital triangle, containing sphincter muscles. Structures of the perineum are separated by fascial layers including the superficial and deep perineal fascia.
1) The lungs develop from the foregut endoderm and associated mesoderm. The endoderm forms the epithelial lining of the trachea, bronchi, and alveoli while the mesoderm forms the cartilage, muscle, and connective tissue.
2) During the 4th week, lung buds form as outgrowths of the foregut endoderm. Tracheo-esophageal ridges then fuse to separate the trachea from the esophagus. Incomplete fusion can lead to tracheo-esophageal fistulas or esophageal atresia.
3) Over successive developmental stages, the lungs continue to branch and the pleural membranes form, separating the pleural
1. The internal iliac artery arises from the common iliac artery and ends by dividing into anterior and posterior divisions within the pelvis.
2. It gives off branches that supply structures within the pelvis such as the bladder, reproductive organs, and rectum.
3. The internal pudendal artery is one of its anterior division branches, and it gives off the inferior rectal artery and branches that supply the genital region.
The document discusses the embryological development of the gastrointestinal tract. It describes how the foregut, midgut, and hindgut develop from the primordial gut tube and how their development and rotation leads to the normal anatomy. It further discusses common anomalies that can occur due to disruptions during development, such as esophageal atresia, intestinal atresia, Hirschsprung's disease, and anorectal malformations. Precise spatial and temporal gene regulation governs gastrointestinal development, and perturbations can result in congenital anomalies.
1. The prostate is a gland located below the bladder and above the urethra. It is roughly the size and shape of a chestnut.
2. The prostate has zones including a peripheral zone that makes up 75% of glandular tissue and a central zone that makes up 25%.
3. The prostate surrounds the urethra as it passes through the prostate. Prostatic ducts open into the urethra to secrete fluid that contributes to semen.
The document provides guidance on managing upper gastrointestinal hemorrhage. It discusses initial assessment and resuscitation, determining the bleeding site, and treatment approaches. Non-operative treatments include endoscopic methods for peptic ulcers and varices, as well as pharmacologic therapies. Operative options are considered for more severe or refractory bleeding and include procedures like duodenotomy, gastric wedge resection, and surgical shunts for varices. Both non-operative and operative management aim to stop the bleeding, prevent recurrence, and treat underlying causes.
The development of the heart occurs in several key stages:
1. Angiogenic cell clusters form in the lateral plate mesoderm and proliferate to form the initial heart tube structure.
2. The heart tube fuses into a single tube and develops an inner endocardial layer and outer myocardial layer.
3. The heart tube loops from right to left, forming the basic four-chamber structure of the heart. Local expansions form the atria, ventricles, and outflow tracts.
4. Partitioning occurs - endocardial cushions form and divide the atria and ventricles, while ridges partition the outflow tracts into the aorta and pulmonary trunk. This
The perineum is the region between the pubic symphysis and coccyx. It includes the external genitalia and anal canal. The perineum is divided into the urogenital triangle anteriorly, containing the vagina in females, and the anal triangle posteriorly, containing the anus. The pudendal canal runs through the ischioanal fossae, containing vessels and nerves, including the pudendal nerve which innervates the perineum. The urogenital diaphragm spans the urogenital triangle, containing sphincter muscles. Structures of the perineum are separated by fascial layers including the superficial and deep perineal fascia.
1) The lungs develop from the foregut endoderm and associated mesoderm. The endoderm forms the epithelial lining of the trachea, bronchi, and alveoli while the mesoderm forms the cartilage, muscle, and connective tissue.
2) During the 4th week, lung buds form as outgrowths of the foregut endoderm. Tracheo-esophageal ridges then fuse to separate the trachea from the esophagus. Incomplete fusion can lead to tracheo-esophageal fistulas or esophageal atresia.
3) Over successive developmental stages, the lungs continue to branch and the pleural membranes form, separating the pleural
1. The internal iliac artery arises from the common iliac artery and ends by dividing into anterior and posterior divisions within the pelvis.
2. It gives off branches that supply structures within the pelvis such as the bladder, reproductive organs, and rectum.
3. The internal pudendal artery is one of its anterior division branches, and it gives off the inferior rectal artery and branches that supply the genital region.
The document discusses the development of the mid-gut and anomalies that can occur. It describes how during development, the mid-gut rotates within the abdomen and how abnormalities in this rotation can lead to anomalies like the ascending colon being on the left side. It also lists several common anomalies of the mid-gut mesenteries, including mobile cecum and reto-colic pocket. Finally, it discusses other mid-gut anomalies such as stenosis or atresia of the intestinal lumen, subhepatic cecum and appendix, and remnants of the vitelline duct that can form structures like Meckel's diverticulum.
This document discusses the embryological development of the urinary and genital systems from the mesoderm. It describes the formation and regression of the three kidney systems - pronephros, mesonephros, and metanephros. The metanephros (permanent kidney) develops from the ureteric bud and metanephric mesoderm. Molecular signals between the bud and mesoderm regulate nephron formation. Genes involved and some clinical correlates of kidney defects are also mentioned.
The urinary system develops from the intermediate mesoderm and includes three successive kidney structures - the pronephros, mesonephros, and metanephros. The metanephros forms the permanent kidneys. It develops from the ureteric bud penetrating the metanephric mesoderm and inducing nephron formation. The kidneys ascend into the abdominal cavity during development and become fully functional by 12 weeks of gestation. The urinary bladder and urethra also develop from the intermediate mesoderm through partitioning of the cloaca.
The document summarizes the development of the gastrointestinal tract from the primitive gut tube through formation of the definitive foregut, midgut, and hindgut regions. Key points include:
- The gut tube forms from endoderm lined yolk sac enveloped by mesoderm during folding.
- The foregut gives rise to structures like the lungs, esophagus and stomach. The midgut forms the small intestine and parts of the large intestine. The hindgut forms the remaining large intestine.
- Rotation and partitioning of the gut establishes the gut regions. Errors can cause clinical issues like esophageal atresia or intestinal malrotation.
Development of Respiratory System (Special Embryology)Dr. Sherif Fahmy
The development of the respiratory system begins in the third week with the formation of the laryngotracheal groove in the pharynx. This groove elongates to form the laryngotracheal tube, which is separated from the foregut by the tracheoesophageal septum. The upper part of the tube forms the larynx while the lower part forms the trachea and bronchi. Each lung bud from the lower end of the tube divides three times to form the right and left lungs. The surrounding mesoderm develops into muscles, cartilages, and blood vessels. After birth, the lungs expand when the baby takes its first breath.
The perineum is the region between the thighs that contains the external genitalia and anal opening. It is bounded by the pelvic floor muscles superiorly and the thighs laterally. The perineum can be divided into the urogenital triangle anteriorly, containing the genital structures, and the anal triangle posteriorly, containing the anus. Each triangle contains superficial and deep pouches separated by fascial layers. The pouches contain muscles, nerves, and vessels related to the genital and anal structures. The perineal body is an important structure that provides support to the pelvic floor.
Development of Diaphragm, Skull, Vertebrae & Limbs (Special Embryology)Dr. Sherif Fahmy
1) The diaphragm develops from the septum transversum, cervical myotomes, pleuro-peritoneal membrane, mesoesophagus, thoracic wall mesoderm, and mesoderm around the aorta.
2) The skull develops from two parts - the neurocranium which forms the brain box and viscerocranium. The neurocranium has a cartilaginous and membranous portion while the viscerocranium has membranous and cartilaginous portions.
3) The vertebral column develops from the notochord surrounded by sclerotomes which form the vertebral bodies. Vertebral bodies first form as me
This document summarizes the development of the pancreas from embryology through its various anatomical structures and developmental anomalies. It describes how the pancreas develops from dorsal and ventral buds, and how the pancreatic ducts form. Signaling pathways that guide development are discussed. Common anatomical variations like pancreas divisum and annular pancreas are summarized, including their presentations and treatments. The Todani classification of choledochal cysts is also briefly outlined.
The document describes the anatomy of the liver including its lobes, surfaces, borders, ligaments, vasculature and biliary drainage. It notes that the liver has four lobes - left, right, caudate and quadrate. The surfaces of the liver include anterior, superior, inferior and posterior surfaces. Key ligaments attaching to the liver are the falciform, coronary and triangular ligaments. The liver receives blood supply from the portal vein and hepatic artery and drains lymph into hepatic and celiac nodes.
This document provides an overview of maternal anatomy, including the anterior abdominal wall, perineum, internal generative organs, lower urinary tract, and pelvic skeletal anatomy. It describes the layers of the anterior abdominal wall including muscles, fascia, blood supply and nerve innervation. It also details the structures of the external genitalia including the vulva, labia, clitoris and vestibule. The internal generative organs discussed include the vagina, hymen, and pelvic diaphragm. Finally, it outlines the perineal spaces and structures of the posterior triangle such as the ischioanal fossae and anal canal.
The document provides an overview of the bony pelvis, including its functions, divisions, boundaries, diameters, sex differences, and applied anatomy. Key points include:
- The pelvis is composed of bones including the two hip bones, sacrum, and coccyx. It functions in locomotion, weight transmission, muscle attachments, and protection of pelvic organs.
- The pelvis is divided into the greater pelvis and lesser pelvis (true pelvis), with the latter further divided into the inlet, outlet, and cavity.
- Sex differences in the adult pelvis include a thicker and heavier structure in males versus thinner and lighter in females. Dimensions like the subpubic angle and
The liver and gallbladder develop from the foregut endoderm. An outgrowth called the hepatic diverticulum or liver bud appears at the junction of the foregut and midgut during the third week of development. It penetrates the septum transversum and divides into right and left lobes which receive hematopoietic cells and connective tissue from the septum. Meanwhile, the bile duct and gallbladder form. Initially the bile duct opens into the duodenum but later rotates to open dorsally due to duodenal rotation. The liver performs hematopoiesis and bile production in the fetus. Anomalies can include duplication or absence of the gallbladder and abnormalities of the bile duct
1) The document discusses the key stages in the first week of human development including fertilization, cleavage, formation of the morula and blastocyst, and implantation.
2) Fertilization involves the fusion of an ovum and spermatozoa to form a zygote, which occurs in the fallopian tube. The zygote then undergoes cleavage divisions as it moves through the uterine tube.
3) By day 5-6, the blastocyst has formed with an inner cell mass and outer trophoblast layer. Around day 7, the blastocyst implants in the uterine lining, initiating formation of the placenta and decidua. Abnormal implantation can result in ect
1. The appendix is located in the lower right portion of the abdomen and functions as part of the immune system.
2. Appendicitis is usually caused by obstruction of the appendix and results in inflammation and infection. Left untreated, it can progress to perforation or gangrene.
3. Symptoms of appendicitis include abdominal pain that starts around the navel and moves to the lower right side, nausea, vomiting, loss of appetite, and fever. A physical exam may reveal tenderness in the lower right abdomen.
The heart begins developing in the third week of gestation from mesodermal cells that form the cardiac tube. This tube undergoes looping and partitioning to form the four chambers. Septa form between the atria and ventricles, dividing them into left and right sides. In fetal circulation, three shunts allow oxygenated blood from the placenta to bypass the lungs and mix with deoxygenated blood before returning to the placenta. After birth, closure of the shunts and changes in hemodynamics establish the postnatal circulation.
The document discusses various abdominal wall defects including hernias. It describes the anatomy and embryology of the abdominal wall and covers topics such as ventral, umbilical, epigastric and incisional hernias. Rare hernias like spigelian, lumbar and pelvic floor hernias are also mentioned. The document provides details on diagnosis and various surgical repair techniques for different abdominal wall defects.
The document discusses kidney development from the formation of the three germ layers during gastrulation to the development of the pronephros, mesonephros, and metanephros. It describes how the intermediate mesoderm forms the nephrogenic cord which develops into the metanephros. The ureteric bud branches to form the collecting system and induces nephron formation from the surrounding metanephric mesenchyme. Congenital anomalies of kidney development including anomalies of number, ascent, form and fusion, rotation, and the collecting system and vasculature are also summarized.
The prostate is a conical gland that surrounds the urethra in males. It secretes fluid that is slightly acidic and contains substances like zinc that form part of semen. The prostate is located in the pelvis below the bladder and above the urethral sphincter. It has lobes including a median lobe and two lateral lobes. Structures like the urethra and ejaculatory ducts pass through it. The prostate receives blood supply from inferior vesical and internal pudendal arteries and drains into prostatic veins. It is innervated by sympathetic and parasympathetic nerves. The size and structure of the prostate changes with age. Diseases of the prostate include prostat
Duodenal atresia is a common cause of intestinal obstruction in neonates, occurring in about 1 in 5,000-10,000 live births. It results from a failure of recanalization of the fetal duodenum, leading to a complete obstruction. Clinically, it presents with bilious vomiting within the first few hours of life. Diagnosis involves finding the classic "double bubble" sign on abdominal x-ray. Surgical treatment involves reconstructing bowel continuity, usually via a diamond-shaped duodenoduodenostomy. With proper management, over 95% of patients will recover successfully from duodenal atresia.
This document provides an overview of the management of Hirschsprung's disease (HSD) and anorectal malformations (ARM). It discusses the epidemiology, etiology, clinical presentation, diagnostic workup, and various treatment approaches for each condition. For HSD, it describes the different types and complications. For ARM, it discusses the classification system, embryology, associated anomalies, physiology of bowel control, and some specific male defects. The overall document is an informative guide covering the key aspects of HSD and ARM for medical professionals.
The document discusses the development of the mid-gut and anomalies that can occur. It describes how during development, the mid-gut rotates within the abdomen and how abnormalities in this rotation can lead to anomalies like the ascending colon being on the left side. It also lists several common anomalies of the mid-gut mesenteries, including mobile cecum and reto-colic pocket. Finally, it discusses other mid-gut anomalies such as stenosis or atresia of the intestinal lumen, subhepatic cecum and appendix, and remnants of the vitelline duct that can form structures like Meckel's diverticulum.
This document discusses the embryological development of the urinary and genital systems from the mesoderm. It describes the formation and regression of the three kidney systems - pronephros, mesonephros, and metanephros. The metanephros (permanent kidney) develops from the ureteric bud and metanephric mesoderm. Molecular signals between the bud and mesoderm regulate nephron formation. Genes involved and some clinical correlates of kidney defects are also mentioned.
The urinary system develops from the intermediate mesoderm and includes three successive kidney structures - the pronephros, mesonephros, and metanephros. The metanephros forms the permanent kidneys. It develops from the ureteric bud penetrating the metanephric mesoderm and inducing nephron formation. The kidneys ascend into the abdominal cavity during development and become fully functional by 12 weeks of gestation. The urinary bladder and urethra also develop from the intermediate mesoderm through partitioning of the cloaca.
The document summarizes the development of the gastrointestinal tract from the primitive gut tube through formation of the definitive foregut, midgut, and hindgut regions. Key points include:
- The gut tube forms from endoderm lined yolk sac enveloped by mesoderm during folding.
- The foregut gives rise to structures like the lungs, esophagus and stomach. The midgut forms the small intestine and parts of the large intestine. The hindgut forms the remaining large intestine.
- Rotation and partitioning of the gut establishes the gut regions. Errors can cause clinical issues like esophageal atresia or intestinal malrotation.
Development of Respiratory System (Special Embryology)Dr. Sherif Fahmy
The development of the respiratory system begins in the third week with the formation of the laryngotracheal groove in the pharynx. This groove elongates to form the laryngotracheal tube, which is separated from the foregut by the tracheoesophageal septum. The upper part of the tube forms the larynx while the lower part forms the trachea and bronchi. Each lung bud from the lower end of the tube divides three times to form the right and left lungs. The surrounding mesoderm develops into muscles, cartilages, and blood vessels. After birth, the lungs expand when the baby takes its first breath.
The perineum is the region between the thighs that contains the external genitalia and anal opening. It is bounded by the pelvic floor muscles superiorly and the thighs laterally. The perineum can be divided into the urogenital triangle anteriorly, containing the genital structures, and the anal triangle posteriorly, containing the anus. Each triangle contains superficial and deep pouches separated by fascial layers. The pouches contain muscles, nerves, and vessels related to the genital and anal structures. The perineal body is an important structure that provides support to the pelvic floor.
Development of Diaphragm, Skull, Vertebrae & Limbs (Special Embryology)Dr. Sherif Fahmy
1) The diaphragm develops from the septum transversum, cervical myotomes, pleuro-peritoneal membrane, mesoesophagus, thoracic wall mesoderm, and mesoderm around the aorta.
2) The skull develops from two parts - the neurocranium which forms the brain box and viscerocranium. The neurocranium has a cartilaginous and membranous portion while the viscerocranium has membranous and cartilaginous portions.
3) The vertebral column develops from the notochord surrounded by sclerotomes which form the vertebral bodies. Vertebral bodies first form as me
This document summarizes the development of the pancreas from embryology through its various anatomical structures and developmental anomalies. It describes how the pancreas develops from dorsal and ventral buds, and how the pancreatic ducts form. Signaling pathways that guide development are discussed. Common anatomical variations like pancreas divisum and annular pancreas are summarized, including their presentations and treatments. The Todani classification of choledochal cysts is also briefly outlined.
The document describes the anatomy of the liver including its lobes, surfaces, borders, ligaments, vasculature and biliary drainage. It notes that the liver has four lobes - left, right, caudate and quadrate. The surfaces of the liver include anterior, superior, inferior and posterior surfaces. Key ligaments attaching to the liver are the falciform, coronary and triangular ligaments. The liver receives blood supply from the portal vein and hepatic artery and drains lymph into hepatic and celiac nodes.
This document provides an overview of maternal anatomy, including the anterior abdominal wall, perineum, internal generative organs, lower urinary tract, and pelvic skeletal anatomy. It describes the layers of the anterior abdominal wall including muscles, fascia, blood supply and nerve innervation. It also details the structures of the external genitalia including the vulva, labia, clitoris and vestibule. The internal generative organs discussed include the vagina, hymen, and pelvic diaphragm. Finally, it outlines the perineal spaces and structures of the posterior triangle such as the ischioanal fossae and anal canal.
The document provides an overview of the bony pelvis, including its functions, divisions, boundaries, diameters, sex differences, and applied anatomy. Key points include:
- The pelvis is composed of bones including the two hip bones, sacrum, and coccyx. It functions in locomotion, weight transmission, muscle attachments, and protection of pelvic organs.
- The pelvis is divided into the greater pelvis and lesser pelvis (true pelvis), with the latter further divided into the inlet, outlet, and cavity.
- Sex differences in the adult pelvis include a thicker and heavier structure in males versus thinner and lighter in females. Dimensions like the subpubic angle and
The liver and gallbladder develop from the foregut endoderm. An outgrowth called the hepatic diverticulum or liver bud appears at the junction of the foregut and midgut during the third week of development. It penetrates the septum transversum and divides into right and left lobes which receive hematopoietic cells and connective tissue from the septum. Meanwhile, the bile duct and gallbladder form. Initially the bile duct opens into the duodenum but later rotates to open dorsally due to duodenal rotation. The liver performs hematopoiesis and bile production in the fetus. Anomalies can include duplication or absence of the gallbladder and abnormalities of the bile duct
1) The document discusses the key stages in the first week of human development including fertilization, cleavage, formation of the morula and blastocyst, and implantation.
2) Fertilization involves the fusion of an ovum and spermatozoa to form a zygote, which occurs in the fallopian tube. The zygote then undergoes cleavage divisions as it moves through the uterine tube.
3) By day 5-6, the blastocyst has formed with an inner cell mass and outer trophoblast layer. Around day 7, the blastocyst implants in the uterine lining, initiating formation of the placenta and decidua. Abnormal implantation can result in ect
1. The appendix is located in the lower right portion of the abdomen and functions as part of the immune system.
2. Appendicitis is usually caused by obstruction of the appendix and results in inflammation and infection. Left untreated, it can progress to perforation or gangrene.
3. Symptoms of appendicitis include abdominal pain that starts around the navel and moves to the lower right side, nausea, vomiting, loss of appetite, and fever. A physical exam may reveal tenderness in the lower right abdomen.
The heart begins developing in the third week of gestation from mesodermal cells that form the cardiac tube. This tube undergoes looping and partitioning to form the four chambers. Septa form between the atria and ventricles, dividing them into left and right sides. In fetal circulation, three shunts allow oxygenated blood from the placenta to bypass the lungs and mix with deoxygenated blood before returning to the placenta. After birth, closure of the shunts and changes in hemodynamics establish the postnatal circulation.
The document discusses various abdominal wall defects including hernias. It describes the anatomy and embryology of the abdominal wall and covers topics such as ventral, umbilical, epigastric and incisional hernias. Rare hernias like spigelian, lumbar and pelvic floor hernias are also mentioned. The document provides details on diagnosis and various surgical repair techniques for different abdominal wall defects.
The document discusses kidney development from the formation of the three germ layers during gastrulation to the development of the pronephros, mesonephros, and metanephros. It describes how the intermediate mesoderm forms the nephrogenic cord which develops into the metanephros. The ureteric bud branches to form the collecting system and induces nephron formation from the surrounding metanephric mesenchyme. Congenital anomalies of kidney development including anomalies of number, ascent, form and fusion, rotation, and the collecting system and vasculature are also summarized.
The prostate is a conical gland that surrounds the urethra in males. It secretes fluid that is slightly acidic and contains substances like zinc that form part of semen. The prostate is located in the pelvis below the bladder and above the urethral sphincter. It has lobes including a median lobe and two lateral lobes. Structures like the urethra and ejaculatory ducts pass through it. The prostate receives blood supply from inferior vesical and internal pudendal arteries and drains into prostatic veins. It is innervated by sympathetic and parasympathetic nerves. The size and structure of the prostate changes with age. Diseases of the prostate include prostat
Duodenal atresia is a common cause of intestinal obstruction in neonates, occurring in about 1 in 5,000-10,000 live births. It results from a failure of recanalization of the fetal duodenum, leading to a complete obstruction. Clinically, it presents with bilious vomiting within the first few hours of life. Diagnosis involves finding the classic "double bubble" sign on abdominal x-ray. Surgical treatment involves reconstructing bowel continuity, usually via a diamond-shaped duodenoduodenostomy. With proper management, over 95% of patients will recover successfully from duodenal atresia.
This document provides an overview of the management of Hirschsprung's disease (HSD) and anorectal malformations (ARM). It discusses the epidemiology, etiology, clinical presentation, diagnostic workup, and various treatment approaches for each condition. For HSD, it describes the different types and complications. For ARM, it discusses the classification system, embryology, associated anomalies, physiology of bowel control, and some specific male defects. The overall document is an informative guide covering the key aspects of HSD and ARM for medical professionals.
The foregut gives rise to the esophagus, stomach, liver, gallbladder and bile ducts, pancreas, and upper duodenum. The esophagus develops from the foregut just caudal to the lung buds. Errors in formation of septa can lead to tracheoesophageal fistulas or esophageal atresia. The stomach develops through rotation such that the left side moves ventrally and the right dorsally. Differential growth forms the greater and lesser curvatures. The pancreas has dorsal and ventral components that fuse together. Rotation of the duodenum brings the pancreas into a retroperitoneal position and can cause annular pancreas if fusion is abnormal.
The foregut gives rise to the esophagus, stomach, liver, gallbladder and bile ducts, pancreas, and upper duodenum. The esophagus develops from the foregut just caudal to the lung buds. Errors in formation of septa can lead to tracheoesophageal fistulas or esophageal atresia. The stomach develops through rotation such that the left side moves ventrally and the right dorsally. Differential growth forms the greater and lesser curvatures. The pyloric sphincter separates the stomach and duodenum; errors can cause pyloric stenosis. The liver and pancreas arise from the foregut endoderm induced by nearby mesoderm.
The spleen has important immune functions and is located in the left upper quadrant of the abdomen. It develops from mesenchymal tissue in the dorsal mesogastrium during embryological development. The spleen has an outer capsule and is perfused by branches of the splenic artery and drained by the splenic vein. It filters blood and removes old red blood cells, plays a role in immunity, and recycles iron. Accessory spleens are present in around 20% of people and are usually located near the main spleen. Splenectomy may be needed for trauma, infections, hematological diseases, or symptomatic splenomegaly. Post-splenectomy vaccination and antibiotic prophylaxis are important to prevent infections from
The document discusses various pediatric gastrointestinal disorders including:
1. Duodenal atresia, malrotation with midgut volvulus, jejunal/ileal atresia as causes of intestinal obstruction.
2. Hirschsprung's disease, anorectal malformations, meconium ileus as other causes.
3. Signs, investigations, and management are described for different conditions like biliary atresia.
This document discusses neonatal abdominal emergencies, including their causes, embryology, and anomalies. It begins by introducing abdominal emergencies in neonates, infants, and children. It then covers the embryology of the gastrointestinal tract, including the development of the foregut, midgut, and hindgut. Specific anomalies are discussed such as Meckel's diverticulum and intestinal malrotation. Diagnosis and treatment of some conditions are also mentioned.
1. The midgut forms a U-shaped loop that herniates through the umbilical ring and undergoes two rotations to return to the abdominal cavity, positioning the appendix on the right.
2. Failure of the midgut to return or complete rotation can result in defects like omphalocele, malrotation, intestinal atresia or stenosis.
3. Common midgut defects include Meckel's diverticulum from persistence of the vitelline duct and intestinal malrotation from incomplete rotation.
1. The midgut forms a U-shaped loop that herniates through the umbilical ring and undergoes two rotations to return to the abdominal cavity, positioning the appendix on the right.
2. Failure of the midgut to return or complete rotation can result in defects like omphalocele, malrotation, intestinal atresia or stenosis.
3. Common midgut defects include Meckel's diverticulum from persistence of the vitelline duct and intestinal malrotation from incomplete rotation.
The document discusses various causes of paediatric intestinal obstruction. It begins by outlining normal neonatal bowel gas patterns and developmental lesions of the intestinal tract that can lead to obstruction. It then describes the two main types of intestinal obstruction - upper and lower. Common causes are discussed for each type, including oesophageal atresia, hypertrophic pyloric stenosis, duodenal atresia, malrotation, and jejunal atresia. Key imaging features of common lesions are summarized.
This document discusses congenital abnormalities of the gastrointestinal (GI) tract. It begins with an overview of the GI tract anatomy. It then lists and describes several common congenital abnormalities: atresia, fistulae, and duplications of the esophagus and intestines; diaphragmatic hernia, omphalocele, and gastroschisis; ectopic tissues; Meckel's diverticulum; pyloric stenosis; and Hirschsprung's disease (congenital megacolon). For each condition, it provides details on pathogenesis, morphology, clinical features, and in some cases treatment.
This document discusses several common causes of childhood intestinal obstruction including:
1. Rotation defects that can cause midgut volvulus like malrotation or incomplete rotation.
2. Duodenal atresia which presents with jaundice and bilious vomiting in newborns.
3. Meconium ileus which is thick meconium causing ileal obstruction in cystic fibrosis patients.
4. Congenital hypertrophic pyloric stenosis causing projectile vomiting in infants.
5. Intussusception where one segment of bowel slides into another causing obstruction.
6. Hirschsprung disease where absence of ganglion cells in a segment of colon causes constipation.
This document discusses midgut development and associated clinical correlates. It describes the normal 4 stages of midgut maturation: herniation, rotation, retraction, and fixation. Errors in herniation can result in omphalocele or gastroschisis. Omphalocele is a median abdominal wall defect where contents herniate into the umbilical cord. Gastroschisis is a lateral abdominal wall defect where bowel externally herniates but there is no sac or cord involvement. The document provides detailed information on the prenatal diagnosis, prognosis, and treatment of these conditions.
The gastrointestinal tract develops from the endoderm during the third week of gestation. By the fourth week, the foregut, midgut, and hindgut have formed and will contribute to different parts of the GI system. Notable milestones in GI development include the formation of the stomach, esophagus, liver and pancreas by 5-7 weeks and intestinal lengthening by 8-12 weeks. Tracheo-esophageal fistula and esophageal atresia are birth defects where the esophagus fails to form properly, sometimes connecting abnormally to the trachea. They require surgical correction, often in stages, to allow for feeding and prevent aspiration. Close nursing observation and care is needed
1. The document discusses various abdominal wall defects including omphalocele, gastroschisis, umbilical hernia, prune belly syndrome, bladder extrophy, cloacal exstrophy, and Pentalogy of Cantrell.
2. It describes the embryology, clinical findings, diagnosis, and management of each condition. Common abdominal wall defects like omphalocele and gastroschisis are discussed in detail including their differences.
3. Rare syndromes associated with abdominal wall defects are also mentioned such as Prune Belly Syndrome, Beckwith-Wiedemann Syndrome, and Pentalogy of Cantrell. The document provides an overview of different abdominal wall birth defects.
This document provides a summary of embryonic development and fetal anatomy as assessed by ultrasound. It describes the normal development of the bilaminar embryo into a trilaminar embryo during gastrulation in the third week. It then discusses the folding and development of various organs over subsequent weeks, including the esophagus, stomach, small and large intestines, liver, gallbladder, pancreas, and anorectal region. It highlights various congenital anomalies that can be assessed prenatally using ultrasound, such as esophageal atresia, intestinal atresias or obstructions, anomalies of the biliary system and pancreas.
The document provides an overview of the gastrointestinal system, including:
- It describes the anatomy and functions of the GI tract from mouth to anus, as well as related organs like the liver and pancreas.
- It lists 100 key facts about the structure and function of different parts of the GI system, including the mouth, esophagus, stomach, and liver.
- It explains that understanding the basic science of the normal GI system is important for learning about GI diseases.
Hirschsprung disease is a developmental disorder characterized by the absence of ganglion cells in the distal colon, resulting in functional obstruction. It involves an enlargement of the colon (megacolon) caused by bowel obstruction from an aganglionic section of bowel that starts at the anus and progresses upward. It is diagnosed using biopsy and treated surgically by removing the abnormal section of colon.
Malrotation is a congenital anomaly resulting from abnormal intestinal rotation during gestation. It can cause midgut volvulus and obstruction. Clinical presentation varies from asymptomatic to symptoms of obstruction. Diagnosis is made through imaging findings showing abnormal relationships of intestines and superior mesenteric vessels. Treatment is surgical correction through Ladd's procedure to unwind volvulus and fix intestines in normal position. Complications include recurrent volvulus and adhesive bowel obstruction.
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3. Introduction
• Congenital GI malformations are spectrum of diseases that occur 2ry
to anomalies in the GI tract during the intrauterine life
• Overall prevalence 7.28 per 10,000 live births
• Congenital absence, atresia, and stenosis of the small intestine (2.37/10,000)
• Tracheoesophageal fistula (2.06/10,000)
• Account for ~1% neonatal deaths worldwide
• 14.8% of all congenital anomalies (T. Tessema , 1995, Gondor)
• Causes of Neonatal Intestinal obstruction: ARM (57%)>> intestinal
atresia >> Hirschsprung’s disease (Amezene T, TASH, 2017)
4. Cont’d
• Neonatal Gastrointestinal surgical emergencies (Endale Tefera, TASH,
2007):
• ARM ~45%
• Intestinal atresia & EA/TEF ~20%
• Associated with increased mortality;
• Only 1 out of 12 EA/TEF discharged alive
• 7 out of 12 Jejunal atresias died
5. Embryologic Development of GIT
cephalocaudal and lateral folding, form the primitive gut aka
Primordial gut, which start at 4th weeks of GA.
In the cephalic and caudal parts of the embryo, the primitive
gut forms a blind ending tube, the foregut and hindgut,
respectively.
Cranial end > Oropharyngeal Membrane
Caudal end > Cloacal Membrame
The middle part, the Midgut, remains temporarily connected
to the yolk sac by means of the vitelline duct, or yolk stalk.
8. Molecular Regulation of Gut Tube Development
Development can be influenced by a variety of processes, including genetic
endowment; the biologic clock; cellular, neural, and hormonal regulatory
mechanisms; and the environment
Specification is initiated by a concentration gradient o f retinoic acid (RA).
• Pharynx =little or no
• Colon =the highest concentration.
Based on this gradient different transcription factors will be expressed in
different regions o f the gut tube.
• SOX 2: esophagus and stomach;
• PDXl :the duodenum;
• CDXQ:the small intestine
• CDXA:the large intestine and rectum
Epithelial -Mesenchymal interaction is initiated by SONIC HEDGEHOG (SHH)
expression throughout the gut tube & expression o f the HOX genes in the
mesoderm.
As a general rule, maturation tends to occur along craniocaudal and
proximodistal axes.
9. Cont’d
Other important components In the development of the GI tract:
Left right Assymetry
Digestion and Absorption
Vascularization
Neural and Motor function
Hormonal Regulation
Host defence
10. Cont’d
Postconceptional age
20 weeks 25 weeks 30 weeks 35 weeks 40 weeks
Mouth Salivary glands Swallow reflex present Lingual lipase Sucking reflex present
Esophagus Muscle layers present
Striated epithelium
present
Poor lower esophageal
sphincter tone
Stomach Gastric glands present G cells appear
Gastric secretions
present
Slow gastric emptying *
Pancreas
Exocrine and endocrine
tissue differentiate
Zymogen present Reduced trypsin, lipase *
Liver Lobules form Bile secreted Fatty acids absorbed *
Intestine Crypts and villi form
Glucose transport
present
Dipeptidese, sucrase,
and maltase active
Lactase active
Colon Crypts and villi recede Meconium passed
• Anatomic and functional maturation of the gastrointestinal tract
11. Mesenteries and peritoneum
Portions of the gut tube and its derivatives are suspended from the dorsal and
ventral body wall by mesenteries.
Intraperitoneal vs retroperitoneal organs
Peritoneal ligaments are double layers of peritoneum (mesenteries) that pass
from one organ to another or from an organ to the body wall.
Dorsal mesentery extends from the lower end of the esophagus to the cloacal
region of the hindgut, at 5th week.
Ventral mesentery : terminal part of the esophagus, the stomach, and the
upper part of the duodenum
derived from the septum transversum
Growth of the liver into the mesenchyme of the septum transversum divides
the ventral mesentery into the
lesser omentum and
falciform ligament
12. Foregut
Esophagus
At around 4 weeks the respiratory
diverticulum (lung bud) appears at the
ventral wall of the foregut.
The tracheoesophageal septum
gradually partitions this diverticulum.
The foregut divides into a ventral
portion, the respiratory primordium and
a dorsal portion, the esophagus.
At first, the esophagus is short but with
descent of the heart and lungs, it
lengthens rapidly.
striated muscle vs smooth muscle
13. EA/TEF
• Unknown cause; Incomplete
fusion of the folds results in a
defective tracheoesophageal
septum and abnormal
connection.
• M:F = 1.26 : 1
• 1 in 2500 to 3000 live births
• Associated congenital
malformation : 50% - 70%
• Gross classification A-E
• EA with distal TEF ~ 85% (Type C)
15. Cont’d
Congenital Esophageal Stenosis :
• 1 in 25,000 - 50,000 births
• usually in the lower 1/3
• 17 - 33% associated with other malformations
Classifications:
1. membranous web or diaphragm
2. fibromuscular thickening
3. stricture secondary to tracheobronchial
remnants
• c/m: progressive dysphagia and vomiting
Congenital Diaphragmatic Hernia :
• 2ry short esophagus
16. Stomach
• fusiform dilation of the foregut at 4th wks.
• different rates of growth in various regions
of its wall and the changes in position of
surrounding organs
• stomach rotates 90° clockwise around its
longitudinal axis.
• Vagus N. >> LARP
• formation of greater and lesser curvatures
• Caudal/pyloric moves to right & upward
• Cephallic/cardiac moves to left & slightly
downward
17. Cont’d
• Rotation about the longitudinal axis
pulls the dorsal mesogastrium create
omental bursa (lesser peritoneal sac)
• spleen primordial appears as a
mesodermal proliferation between the
two leaves of the dorsal mesogastrium
Lienorenal ligament
gastrolienal ligament
• Dorsal mesogastrium > Greater
Omentum
• Ventral mesogastrium > lesser
omentum & falciform ligament
• Ligamentum teres hepatis
• Hapatoduodenal ligament
• Epiploic foramen of Winslow
18. Duodenum
• terminal part of the foregut and the
cephalic part of the midgut at 4th wk
Junction: just distal to liver bed
• Stomach rotation > C-shaped loop
• Rapid growth of head of pancreases
> right side position
• At 6th wk, the lumen is obliterated
by proliferation of cells in its walls &
recanalized shortly thereafter.
19. Duodenal Atresia and Stenosis
• most common sites of neonatal intestinal obstruction
• Atresia >> stenosis
• 1 in 5 - 10,000 live births : M >> F
• 50% have associated congenital anomalies
• Intrinsic –Vs- Extrinsic lesion
• Gray and Skandalakis Classification
• Type 1 (92%): There is an obstructing septum (web) formed from mucosa and
submucosa with no defect in the muscularis. The mesentery is intact.
• Type 2 (1%): A short fibrous cord connects the two blind ends of the duodenum.
The mesentery is intact.
• Type 3 (7%): There is no connection between the two blind ends of the
duodenum. There is a V-shaped mesenteric defect.
21. Liver , Gall Bladder & Pancreas
• Liver
• Primordium appears in the middle
of the 3rd week.
• Penetrate the septum
transversum.
• Gallbladder and the cystic duct.
• Ventral outgrowth from the bile
duct.
• Pancreas
• Dorsal and ventral buds.
• Rotation of duodenum fuses the
parts.
22. Midgut
• Formation of Primary intestinal
loop, the apex being vitelline duct.
Physiological umbilical hernia at
6th week
Rotation of the midgut: total of
270° CCW direction along SMA.
• 90° during herniation
• 180° during return of intestinal loops
into the abdominal cavity
Retraction of herniated loops at
10th-12th wk
• Cecal Bud swelling: at 6th wk, as
elevation on antimesenteric
border
23. Cont’d
Fixation & Mesenteries of intestinal
loops
Abnormalities in the mesentery
• Mobile Cecum : 2ry persistence of
portion of mesocolon.
• In extreme cases >> cecal or colonic
volvulus.
• Retrocolic pockets 2ry incomlete fusion
• Retrocolic hernia
24. Gut Rotation Defects/ Midgut Malrotations
Nonrotation: occurs when the intestine
does not rotate as it reenters the abdomen
• caudal limb of the midgut loop returns to
the abdomen first
• Duodenojejunal limb on the right side of
the abdomen and Cecocolic limb on the left
• Midgut volvulus due to narrow mesenteric
pedicle
Reversed Rotation : the midgut loop
rotates in a clockwise direction
• duodenum lies anterior to SMA
• transverse colon lies posteriorly
25. Cont’d
Incomplte rotation: arrested CCW
rotation at/near 180°
• cecum lies just inferior to the pylorus, in
subhepatic/ RUQ position
• cecum is fixed to the posterolateral
abdominal wall by peritoneal bands
• Midgut volvulus occur 2ry the
obstructing band & abnormal fixation
• peritoneal bands and volvulus of the
intestine cause intestinal atresia
(duodenal obstruction)
26. Jejunoileal Atresias and Stenoses
• 1 in 5000 of live births , M=F
• Common in LBW & premature infants
• 2ry intrauterine vascular ‘accidents’, affecting
single or multiple segments of the already
developed intestine, or
• 2ry problems of gut differentiation: HOX genes
• maternal vasoconstrictive medications,
maternal cigarette smoking during 1st TMPx
increase the risk of atresia
• Rarely associated extra intestinal anomalies
(<10%), since occurrence is relatively late
• Atresias ~ 95%, Stenosis ~ 5%
27. Cont’d
Grosfeld classification system
Type I: webs(luminal diaphragm)
Mucosal atresia with intact
bowel and mesenetery
Type II: Blind ends separated by a
fibrous cord
Type III(a): Blind ends separated
by a V-shape mesenteric defect
Commonest ~50 %
Type III(b): Apple-peel atresia
Type IV: Multiple atresias (string
of sausages) : 20-35%
28. Colonic Atresia
• Rare cause of neonatal GI obstruction
• 2-15 % of intestinal atresias
• ~1 in 20,000 live births
• 1/3 associated with other congenital
malformations
• Type I : mucosal atresia
• Type II: atretic ends are separated by
fibrous cord
• Type III: atretic ends separated by V-shaped
mesenteric gap
• C/M: abdominal distention, bilious emesis,
and failure to pass meconium.
29. GIT Duplications
• Rare, 1 in 4500 live births
• 2 types : cystic >> tubular
• Proposed etiologic factors:
persistent embryonic diverticulum
defect in the recanalization
partial twinning theory
‘split notochord’ theory
• jejunum/ileum(50%)>>esophagus(20%)
>other
• heterotopic mucosa in 25–30%
• Located on mesenteric side
30. Vitelline Duct Abnormalities
Meckel diverticulum
• relatively common
• 3-6 cm long, is a true diverticula
• On antimesentric border of ileum
• Majorty of cases are asymptomatic
• May contain hetrotropic pancreatic
tissue or gastric mucosa
• Rule of Two
Other abnormalities : fibrous cord,
fistulas, Omphaloenteric cysts
31. Body wall Defects
OMPHALOCELE
• 1 to 2.5 per 5000 live birth
• M>>F
• 2ry failure of the body folds to complete their
journey -Vs- failure of retraction of herniated
bowel loops
• Bowel +/- solid organs in omphalocele sac
through the umbilicus
• Ass. Other congenital malformations (~45%
cardiac anomalies)
• High mortality (~25%)
• Dx : Prenatal sonography
• Surgical mgt not urgent, unless raptured
32. GASTROSCIASIS
• Commonest; 2 to 4.9 per 10,000 live birth
• Maternal age <21 yrs
• 2ry failure of migration of the lateral folds
• Usually on right side
• Freely floating bowel
• Other congenital anomalies <10 %
• Concomitant bowel atresia (7-28%)
• Dx: prenatal sonography
• Needs urgent surgical intervention
Umbilical Cord Hernias: bowel loops later
herniate again through an imperfectly closed
umbilicus
• Rare phenomenon
33. Hind Gut
• Cloaca is an endoderm lined chamber that is in contact with the surface ectoderm at the
cloacal membrane.
• At 7th week cloaca is divided into dorsal and ventral parts by a wedge of mesenchyme, the
urorectal septum, creating;
• rectum and cranial part of the anal canal dorsally &
• urogenital sinus ventrally
• In b/n, the tip of the urorectal septum forms the perineal body
• Ectoderm in the region of the proctodeum on the surface of part of the cloaca proliferates
and invaginates to create the anal pit
34. Anal Canal
• Superior 2/3 derived from hindgut
• Inferior 1/3 develops from the anal pit
• junction of the epithelium roughly
indicated by the irregular pectinate line
• ~2 cm superior to the anus is the
anocutaneous line (white line)
• Keratinized epithelium of the anus is
continuous with that of surrounding skin
• The other layers of the wall of the anal
canal are derived from splanchnic
mesenchyme.
35. ARMs (Anorectal Malformations)
• ~1 in 4-5,000 : M > F
• Risk of ARM in the second child is ~1%
• Arrest of the caudal descent of the urorectal septum to the cloacal
membrane.
• ARMs with out fistulas are rare
• Can be low, intermediate or high
• Associated anomalies (50-60 %): Sacral deformities (commonest), Spinal
problems (e.g. Tethered cord), Genitourinary defects
• Generally high deformities are associated with poor bowel function,fistula
tracts, difficult surgical repairs (requiring multiple procedures), more
malformations and poor prognosis.
36. Classification of infants with ARMs
MALES
• Rectoperineal fistula
• Rectourethral bulbar fistula
• Rectourethral prostatic fistula
• Rectobladderneck fistula
• Imperforate anus without fistula
• Rectal atresia/rectal stenosis
FEMALES
• Rectoperineal fistula
• Rectovestibular fistula
• Persistent Cloaca
• Complex malformations
• Imperforate anus without fistula
• Rectal atresia/rectal stenosis
37. Hirschsprung Disease/ congenital megacolon
• absence of ganglion cells in the myenteric and submucosal plexuses
of the distal intestine
• 1 : 5,000 live births
• ‘transition zone’ located at;
• rectum or rectosigmoid colon (~80%)
• proximal colonic involvemen (~10%)
• total colonic aganglionosis +/- distal small intestine (5-10%)
• Short Vs Long Segment
• Presentation is variable :
• Neonatal bowel obstruction (50-90%)
• Chronic constipation
• Enterocolitis (10%)
A study done in India shows : The predominant system involved was Musculoskeletal system (33.2%) followed by gastro-intestinal (GI) system (15%).
Mortality depends on: Associated congenital malformations, Early –vs- delayed Dx & presentation, timely intervention & perioperative care.
Development o f the primitive gut and its derivatives is usually discussed in four sections:
The pharyngeal gut, or pharynx :extends from the oropharyngeal membrane to the respiratory diverticulum.
The foregut lies caudal to the pharyngeal tube and extends as far caudally as the liver outgrowth.
The Midgut begins caudal to the liver bud and extends to the junction of the right two-thirds and left third of the transverse colon in the adult.
The hindgut extends from the left third of the transverse colon to the cloacal membrane.
1. The asymmetry of the contents of the abdomen is more obvious than in any other part of the body. Only in congenital disorders of the heart are the clinical consequences of deranged asymmetry greater than in the GI tract.
Examples of disorders that may be caused by disturbances of lateral development include:
● Situs inversus abdominus
● Polysplenia or asplenia
● Pancreas divisum or annular pancreas
● Malrotation
2. The arterial bed develops as three ventral out buddings from the aorta to form the celiac axis, and the superior and inferior mesenteric arteries. Mesenteric blood flow is regulated at two points (the arteriole and the precapillary sphincter) and controlled at two levels (intrinsic and extrinsic). Intrinsic control by local factors regulates blood flow in response to changes in arterial pressure and tissue oxygenation, such as those caused by vascular constriction or feeding. Extrinsic regulation is mediated by sympathetic input from the splanchnic nerves.
3. The neural crest cells and muscle cells differentiate to form the three layers of muscle that surround the mucosa and the neural network that regulates its function. Control of motor function is provided primarily by the enteric nervous system (a subsystem of the autonomic nervous system), which is composed of a variety of plexuses of nerve cell bodies and interneuronal circuits.
4. Glucocorticoids and thyroid hormone interact with cellular signals in the maturation of the intestinal epithelium. Numerous regulatory gut peptides are also produced in the developing GI tract. Some of these peptides function as true hormones (eg, gastrin, cholecystokinin, motilin, pancreatic polypeptide, and somatostatin), whereas others have paracrine or neurocrine function (eg, gastric inhibitory peptide, bombesin, vasoactive intestinal polypeptide, neurotensin, enteroglucagon, and peptide YY).
5. T cells and B cells are produced as early as 14 weeks gestation. However, antigenic stimulation of the lamina propria cells does not occur until after birth. Secretory immunoglobulin A (IgA) is present in very low concentrations in fetal life, as the newborn intestine has few IgA-producing plasma cells. Therefore, preterm infants are unable to form antibodies to exogenous protein.
* Full maturation occurs postnatally.
The striated muscle of the superior third of the esophagus is derived from mesenchyme in the 4th and 6th pharyngeal arches. The smooth muscle, mainly in the inferior third of the esophagus, develops from the surrounding splanchnic mesenchyme.
** Environmental factors that have been implicated include the use of methimazole in early pregnancy, prolonged use of contraceptive pills, progesterone and estrogen exposure, maternal diabetes, and thalidomide exposure. EA is occasionally seen in the fetal alcohol syndrome and in maternal phenylketonuria.
** Chromosomal anomalies are found in 6–10%. The total number of trisomy 18 cases exceeds the total number of trisomy 21 cases.
** The anomalies are most common in cases of EA without TEF and are least common in cases of H-type TEF. Complex cardiac deformities may account for most of the deaths associated with EA malformation.
** Stenosis may be caused by incomplete recanalization , vascular abnormalities , or accidents that compromise blood flow.
Congenital anomalies of stomach are uncommon, but includes:
iHPS
Microgastria
Gastric Atresia
Antral Mucosal Diaphragm
Duplication Cyst
Malrotation
** The terminal part o f the foregut and the cephalic part o f the midgut form the duodenum.
** This intrinsic lesion is most commonly believed to be caused by a failure of recanalization of the fetal duodenum resulting in complete obstruction. Early in the fourth week of gestation, the duodenum begins to develop from the distal foregut and the proximal midgut. During the fifth and sixth weeks of gestation, the duodenal lumen temporarily obliterates due to proliferation of its epithelial cells. Vacuolation due to degeneration of the epithelial cells during the 11th week of gestation then leads to duodenal recanalization. An embryologic insult during this period can lead to an intrinsic web, atresia, or stenosis.
** The extrinsic form of duodenal obstruction is due to defects in the development of neighboring structures such as the pancreas, a preduodenal portal vein, or malrotation and Ladd’s bands.
** Most stenoses involve the horizontal (third) and/or ascending (fourth) parts of the duodenum. Because of the stenosis, the stomach’s contents (usually containing bile) are often vomited.
** is characterized by rapid elongation of the gut and its mesentery, resulting in formation of the primary intestinal loop.
** During the 10th week, herniated intestinal loops begin to return to the abdominal cavity. Although the factors responsible for this return are not precisely known, it is thought that regression o f the mesonephric kidney, reduced growth of the liver, and expansion of the abdominal cavity play important roles.
** Jejunum and ileum retain their mesenteries w/c is fan-shaped mesentery that passes from the duodenojejunal junction inferolaterally to the ileocecal junction.
** The primordium of the cecum and appendix, the cecal swelling, appears in the sixth week as an elevation on the antimesenteric border of the caudal limb of the midgut loop.
N.B: Malrotation is an integral part of congenital diaphragmatic hernia and all abdominal wall defects. Associated anomalies are found in 30% to 60% of patients with malrotation.
**reverse rotation : the small intestine lies on the left side of the abdomen and the large intestine lies on the right side, with the cecum in the center. The transverse colon eventually lies behind the vessels, which may result in acute or chronic
colonic obstruction.
** commonest intestinal atresia is duodenal atresia.
** Intrauterine vascular disruption can lead to ischemic necrosis of the bowel with subsequent resorption of the affected segment/s. Vascular accidents occur 2ry malrotations, volvulus, abdominal wall defects, intussusception, thromboembolic
occlusions, transmesenteric internal hernias, ….
** Presenting features include maternal polyhydramnios (jejunal>>ileal), bilious emesis, abdominal distention, jaundice, and failure to pass meconium on the first day of life.
** The Grosfeld classification system separates these defects into four groups, with an additional consideration for type III(b). This classification has significant prognostic and therapeutic value as it emphasizes the importance of associated loss of intestinal length, abnormal collateral intestinal blood supply, and concomitant atresia or stenosis. Regarding classification, the most proximal atresia determines whether the atresia is classified as jejunal or ileal atresia. Multiple atresias are found in up to 30% of patients.
** As with stenosis, there is no foreshortening of the bowel in type I atresias.Type II also have relatively normal bowel length
** Type III(b) atresia (apple-peel, Christmas tree, or Maypole deformity) consists of a proximal jejunal atresia, absence of the superior mesenteric artery beyond the origin of the middle colic branch, agenesis of the dorsal mesentery, a significant loss of intestinal length, and a large mesenteric defect.
** Intestinal stenosis is more likely to create diagnostic difficulty when compared to intestinal atresia. Intermittent partial obstruction or malabsorption may improve without treatment. Clinical investigations can initially be normal. However, these babies usually develop failure to thrive and ultimately progress to complete intestinal obstruction and require exploration.
Type I consists of mucosal atresia with an intact bowel wall and mesentery. In type II, the atretic ends are separated by a fibrous cord. In type III, the atretic ends are separated by a V-shaped mesenteric gap. Type III lesions are the most commonly occurring lesions overall, while types I and II are seen more commonly distal to the splenic flexure.
** Alimentary tract duplications present with a wide range of symptoms including abdominal distension and/or pain, obstruction, bleeding, respiratory compromise, or a painless mass. Generally, the symptoms are related to size, location, type of duplication, and presence of heterotopic mucosa. Most (80%) present before 2 years of age; prenatal ultrasound is detecting duplications as early as 16 weeks. The majority of duplications are cystic and the remaining are tubular.
** Gastric tissue is the most common type of ectopic mucosa encountered followed by both exocrine and endocrine pancreatic tissue. Ectopic gastric mucosa may lead to peptic ulceration with subsequent hemorrhage or perforation.
Rule of two:
Prevalence ~2%
Size/length ~2 inches (3-6 cms)
Site ~2 feets (40-60cms) from ileocecal valve
Symptomatic in ~2% of cases
Sxs occur after the age of 2 yrs
M:F = 2:1
2 ectopic tissue; gastric followed by pancreatic tissue
** Up to 45% of patients with omphalocele have been reported to have a cardiac abnormality including ventricular septal defect, atrial septal defect, ectopia cordis, tricuspid atresia, coarctation of the aorta, and persistent pulmonary hypertension of the newborn. Chromosomal abnormalities can be found in up to 20%, and an association with Down syndrome has also been reported.
** Ompalocele sac consists covering layers of the umbilical cord and includes amnion, Wharton’s jelly, and peritoneum.
** The etiology for gastroschisis is less clear. One theory suggests that gastroschisis results from failure of the mesoderm to form in the anterior abdominal wall. Currently, the ventral body folds theory, which suggests failure of migration of the lateral folds (more frequent on the right side), is most widely accepted. This implies a gastroschisis develops early in gestation and prior to development of an omphalocele. Due to the increasing incidence of gastroschisis, there are a number of possible causative factors including tobacco, certain environmental exposures, lower maternal age and low socioeconomic status, all suggested by epidemiologic studies, but not proven.
** The hindgut gives rise to the distal third of the transverse colon, the descending colon, the sigmoid, the rectum, and the upper part of the anal canal. The endoderm of the hindgut also forms the internal lining o f the bladder and urethra.
** In early embryos, the cloaca is a chamber into which the hindgut and allantois empty. The expanded terminal part of the hindgut, the cloaca, is an endoderm-lined chamber that is in contact with the surface ectoderm at the cloacal membrane.
** The upper part (two-thirds) of the anal canal is derived from endoderm o f the hindgut; the lower part (one-third) is derived from ectoderm around the proctodeum.
** Subsequent degeneration of the cloacal membrane (now called the anal membrane) establishes continuity between the upper and lower parts of the anal canal.
** The cloaca plays a crucial role in anorectal development. New information indicates that the urorectal septum does not fuse with the cloacal membrane; therefore, an anal membrane does not exist. After the cloacal membrane ruptures by apoptosis (programmed cell death), the anorectal lumen is temporarily closed by an epithelial plug(which may have been misinterpreted as the anal membrane). Mesenchymal proliferations produce elevations of the surface ectoderm around the epithelial anal plug. Recanalization of the anorectal canal occurs by apoptotic cell death of the epithelial anal plug, which
forms the anal pit (proctodeum).
** Approximately 2 cm superior to the anus is the anocutaneous line(white line). This is approximately where the composition of the anal epithelium changes from columnar to stratified squamous cells. At the anus, the epithelium is keratinized (made keratinous) and continuous with the skin around the anus.
** Because of its hindgut origin, the superior two thirds of the anal canal are mainly supplied by the superior rectal artery, the continuation of the inferior mesenteric artery (hindgut artery). The venous drainage of this superior part is mainly via the superior rectal vein, a tributary of the inferior mesenteric vein. The lymphatic drainage of the superior part is eventually to the inferior mesenteric lymph nodes. Its nerves are from the autonomic nervous system.
** Because of its origin from the anal pit, the inferior one third of the anal canal is supplied mainly by the inferior rectal arteries, branches of the internal pudendal artery. The venous drainage is through the inferior rectal vein, a tributary of the internal pudendal vein that drains into the internal iliac vein. The lymphatic drainage of the inferior part of the anal canal is to the superficial inguinal lymph nodes. Its nerve supply is from the inferior rectal nerve; hence, it is sensitive to pain, temperature, touch, and pressure.
** The differences in blood supply, nerve supply, and venous and lymphatic drainage of the anal canal are important clinically, as when one may be considering the metastasis(spread) of cancer cells. The characteristics of a carcinoma (cancer arising in the epithelial tissue) in the two parts is also different. Tumors in the superior part are painless and arise from columnar epithelium, whereas tumors in the inferior part are painful and arise from stratified squamous epithelium.
** Lower urethral fistulas are usually associated with good-quality muscles, a well-developed sacrum, a prominent midline groove, and a prominent anal dimple. Higher urethral fistulas are more frequently associated with poor-quality muscles, an abnormally developed sacrum, a flat perineum, a poor midline groove, and a barely visible anal dimple.
** Lumbosacral anomalies such as hemivertebrae, scoliosis, butterfly vertebrae, and hemisacrum are common. The most
frequent spinal problem is tethered cord.
** The evaluation in every child with imperforate anus must include an ultrasound (US) of the kidneys and abdomen to evaluate for the presence of hydronephrosis or any other urologic obstructive process.
** By 13 weeks the neural crest cells have undergone a process of migration through the gastrointestinal tract from proximal to distal, after which they differentiate into mature ganglion cells.
** There are two main theories why this process is disturbed in children with HD. The first possibility is that the neural crest cells never reach the distal intestine due to early maturation or differentiation into ganglion cells. The second possibility is that the neural crest cells reach their destination, but fail to survive or differentiate into ganglion cells due to an inhospitable microenvironment.
** Approximately 80% of children have a ‘transition zone’ in the rectum or rectosigmoid colon. Another 10% have more
proximal colonic involvement, and about 5–10% have total colonic aganglionosis with variable involvement of the distal small intestine. Rarely, babies are afflicted with near-total intestinal aganglionosis.
** Approximately 50% to 90% of children with HD present during the neonatal period with abdominal distension, bilious vomiting, and feeding intolerance suggestive of distal intestinal obstruction. Delayed passage of meconium beyond the first 24 hours is characteristic but is only present in approximately 90% of children with HD. In some patients cecal or appendiceal perforation may be the initial event.
** Approximately 10% of children with HD present with fever, abdominal distention, and diarrhea due to Hirschsprung associated enterocolitis (HAEC), which may be chronic, or may be severe and life-threatening. Because Hirschsprung disease is generally thought of as causing constipation, presentation with diarrhea may be confusing and the diagnosis may not be considered.
** Plain & contrast Radiographs, anorectal manometry, Rectal Bx (definitive Dx) are important in evaluation of HD.