Pathology Notes

Practice question answers Congenital GI disorders Updated: 03/01/2019 © Jun Wang, MD, PhD 1. B. Presentation of choke after suckling is suggestive for esophageal atresia or tracheoesophageal fistula . Failure of passing nasogastric tube to stomach is consistent with esophageal atresia . Image studies reveal blind end of esophagus without contrast in trachea ruled out tracheoesophageal fistula . Diaphragmatic hernia has abdominal organs in chest. Esophageal duplication has rounded fluid/soft tissue density on radiograph, not blind end. Vacterl syndrome has at least three of the following disorders: V ertebral abnormalities, A norectal abnormalities, C ardiac defects, T racheo E sophageal fistula, R enal anomalies, and L imb deformities. 2. D. Coughing and choking with feed and recurrent bilateral pneumonia since birth is highly suggestive of tracheoesophageal fistula , as confirmed by the H-shaped contrast distribution. Also see discussion of question 1. 3. E. Trach

Practice questions Congenital GI disorders Updated: 03/01/2019 © Jun Wang, MD, PhD 1. Use this image for this question . A new born boy has thick oral secretions and choke after suckling, followed by respiratory distress. The prenatal course is significant for polyhydramnios. Physical examination is unremarkable. The neonatologist failed to insert a nasogastric tube to stomach. An image of his chest X-ray with contrast is shown. What is the diagnosis? (image credit: DrM!key/WikiCommons) A. Diaphragmatic hernia B. Esophageal atresia C. Esophageal duplication D. Tracheoesophagial fistula E. Vacterl syndrome 2. Use this image and this case for the next 2 questions . A 1-month-old girl presents with coughing and choking with feed and recurrent bilateral pneumonia since birth. The prenatal and delivery course are unremarkable. An image of chest X-ray with contrast is shown. What is the diagnosis? (Image credit: Kinderradiologie Olgahospital Klinikum Stut

Tracheoesophageal fistula Updated: 02/20/2019 © Jun Wang, MD, PhD General features Either congenital or acquired Commonly associated with esophageal atresia May leads to severe and fatal pulmonary complications Commonly associated with other developmental abnormalities Pathogenesis Tracheoesophageal septum abnormality Incomplete separation of esophagus from laryngotracheal tube Clinical presentations May be asymptomatic if fistula is small Presentation of esophageal atresia, if present: Polyhydramnios of mother, excess oral secretion, choke during suckling Coughing and choking associated with feeding Recurrent pneumonia Key pathological features Type A: Isolated esophageal atresia without fistula Type B: Esophageal atresia with proximal fistula Type C: Esophageal atresia with distal fistula Type D: Esophageal atresia with proximal and distal fistula Type E: Isolated fistula, may be referred to as “H type” Vacterl syndrome V ertebral abnormalitie

Omphalocele Updated: 02/22/2019 © Jun Wang, MD, PhD General features Congenital midline abdominal wall defect May be associated with various chromosomal abnormalities, especially trisomy 13 or 18 Pathogenesis Abnormal gut rotation during embryogenesis Failure of herniated bowel return to abdominal cavity Defective mesoderm growth Failure of central fusion of umbilical ring Clinical presentations Internal organs covered by peritoneum and a membrane of amnion Prenatal diagnosis Image studies Treatment Surgical repair Back to GI tract congenital disorders Back to contents

Meckel’s diverticulum Updated: 02/22/2019 © Jun Wang, MD, PhD General features Most common GI tract congenital anomaly Usually incidental finding during laparoscopy or surgery, image studies Remnant of omphalomesenteric duct More common in male May contain ectopic tissue, most commonly gastric tissue Complications: Inflammation, perforation, fistula formation, intussusception, obstruction, etc Pathogenesis Failure of vitelline duct (omphalomesenteric duct) involution Clinical presentations Usually asymptomatic Symptomatic more common in patients under 10 Symptoms associated with complications Inflammation Bleeding Ulcer Fistula Intussusception Obstruction May present with acute abdominal complaints Pathological features Blind outpouching of distal ileal wall, antimesenteric side Treatment Surgery Back to GI tract congenital disorders Back to contents

Hypertrophic pyloric stenosis Updated: 02/22/2019 © Jun Wang, MD, PhD General features Obstruction of gastric outlet due to pylorus sphincter muscle hypertrophy Most common cause of intestinal obstruction in infancy More common in males, white Commonly associated hyperbilirubinemia, midgut malrotation Pathogenesis Deficiency of nitric oxide synthase containing neurons Abnormal myenteric plexus innervation Infantile hypergastrinemia Certain medications such as macrolide antibiotics Lack of vasoactive intestinal polypeptide Clinical presentations Immediate postprandial nonbilious forceful vomiting Regurgitation Emaciation and dehydration Olive-like mass the right upper lateral edge of rectus abdominis, best palpated after infant has vomited and calm Gastric peristalsis prior to emesis Radiologic findings Dilated stomach with single air fluid level Thickened and lengthened pyloric wall Treatment Surgery: pyloromyotomy Fluid and electrolyte man

Hirschsprung disease Updated: 02/22/2019 © Jun Wang, MD, PhD General features Developmental disorder Most common affects rectosigmoid colon More common in male, Down syndrome patients, Asian Americans May be associated with other developmental abnormalities, esp. neurologic abnormalities Familial cluster may present Higher risk for female proband, or multiple family member involvement Clinical presentation associated with abnormal gut movements Etiology Associated with various mutations Most common gene affected: RET proto-oncogene Associated syndromes Down syndrome MEN 2 (RET mutation) Others: Congenital central hypoventilation syndrome, etc Other congenital anomalies Genitourinary anomalies: hydronephrosis, etc Visual and hearing impairment Congenital heart disease Anorectal malformations Pathogenesis Absence of ganglia in distal colon, rarely may involve small bowel Failure of relaxation Tonic contraction resulting functional obstructi