Pathology Notes

GI tract duplication Updated: 02/22/2019 © Jun Wang, MD, PhD General features Congenital malformations May occur at any location at GI tract May be associated with other malformations Clinical presentations Depend on size and location Cervical: respiratory distress Thoracic/abdominal: respiratory distress, heartburn, bleeding Gastric: vomiting, poor feeding, mass, etc Duodenal: ulcer due to ectopic gastric mucosa Jejunum/ileum: intussesception, volvulus, retention of intestinal contents, etc Colon: either asymptomatic or mass Rectum: constipation, bleeding, prolapse, hemorrhoid, etc Key pathological features Either solid or cystic Diagnosis Clinical symptoms, radiologic studies Treatment Surgery Stool softeners and enemas to relieve symptoms for colonic duplications Back to GI tract congenital disorders Back to contents

Gastroschisis Updated: 02/22/2019 © Jun Wang, MD, PhD General features Congenital midline abdominal wall defect May be associated with smoking, agriculture chemicals Pathogenesis Four hypotheses Failure of mesoderm to form in the body wall Herniation of bowel due to amnion rupture around umbilical ring Weakening of the body wall and gut herniation due to abnormal involution of right umbilical vein Body wall damage and gut herniation due to yolk sac artery disorder Clinical presentations Full thickness paraumbilical abdominal wall defect Exposed internal organs without membrane covering Prenatal diagnosis Image studies Treatment Surgical repair Back to GI tract congenital disorders Back to contents

Esophageal atresia Updated: 02/20/2019 © Jun Wang, MD, PhD General features Group of congenital anomalies of non-patent esophagus With or without fistulae with trachea Associated with congenital heart disease, neurologic disease, GI or GU malformations and single umbilical artery Etiology Unknown Clinical presentations Polyhydramnios of mother, excess oral secretion, choke during suckling Failure of inserting NG tube Key pathological features Proximal blind pouch connected to pharynx Distal pouch leading to stomach Diagnosis Clinical symptoms, radiologic studies Treatment Surgery Back to GI tract congenital disorders Back to contents

Congenital diaphragmatic hernia Updated: 02/22/2019 © Jun Wang, MD, PhD General features Developmental defect of diaphragm More common in left Abdominal organs herniated into chest Basic types Paravertebral/posterolateral type (Bochdalek type): Most common Parasternal type (in the foramen of Morgagni) Hiatal hernia Clinical presentations Respiratory distress due to lung compression and hypoplasia Prenatal diagnosis Image studies Radiologic findings Abdominal organ (most commonly intestine) in chest Pathological findings Diaphragmatic defects Abdominal organ (most commonly intestine) in chest Diagnosis Suspected in any term infants with respiratory distress Radiologic studies Treatment Stabilization of oxygenation, etc, followed by surgery Back to GI tract congenital disorders Back to contents

Congenital GI tract disorders Updated: 02/22/19 © Jun Wang, MD, PhD General features Developmental defects Commonly present at early ages Clinical presentations depending on organ involved and nature of the disorder Abdominal wall defects Omphalocele Gastroschisis Diaphragmatic hernia Duplication Esophageal abnormalities Esophageal atresia Tracheoesophageal fistula Stomach abnormality Hypertrophic pyloric stenosis Intestinal abnormalities Meckel’s diverticulum Hirschsprung diesease Practice questions Back to contents

GU tract congenital anomalies   Updated: 01/27/2021 © Jun Wang, MD, PhD Ureter anomalies Double and bifid ureters: Associated with duplication of renal pelvis Ureteropelvic junction (UPJ) obstruction Most common causes of hydronephrosis in children May be associated with agenesis of contralateral kidney Diverticula Asymptomatic or associated with recurrent urinary tract infections Outpouching identified by image studies (Intravenous pyelogram, etc) Bladder anomalies Vesicoureteral reflux : Risk for infection and reflux nephropathy Diverticula : Predominantly in men; risk for infection and stone Exstrophy of the bladder Bladder mucosa exposed to the surface exterior Defect in the anterior abdominal wall Developmental failure Risk for adenocarcinoma of bladder Patent urachus Failure of urachal canal obliteration Urination through umbilicus Risk for infection and adenocarcinoma May be associated with urachal cysts Penile anomalies Hypospadias Most