Category: Paediatric

GI: Paedatric Pathology Cases 3

A full-term baby was delivered with uncovered loops of bowel protruding from the abdomen to the

right of the umbilicus.

 

https://en.wikipedia.org/wiki/Gastroschisis

The diagnosis is gastroschisis.

 

This needs to be distinguished from an omphalocoele, which is another type of abdominal wall defect.

An omphalocole is a midline herniation of the intestines (and, sometimes, other organs)  through the umbilical ring.

A critical point is that in an omphalocele, the contents are covered by the peritoneum and amniotic membrane.

These features and additional information are summarised in the following table

GI: Paedatric Pathology Case 2

A newborn presents with respiratory distress soon after birth.

Chest X-ray reveals bowel loops in the left chest and mediastinal shift.

https://radiopaedia.org/articles/bochdalek-hernia

 

Congenital diaphragmatic hernia  (Bochdalek hernia – see below)

This is caused by the failure of the pleuroperitoneal membrane to fuse

 

Classification of Diaphragmatic Hernias

Category Type Subtype Key Features
Congenital  Bochdalek Hernia — ~90% of Congenital Diaphragmatic Hernias ; postero-lateral defect; predominantly left-sided; impairs fetal lung development (pulmonary hypoplasia)
Congenital  Morgagni Hernia — Anterior defect; rarely detected antenatally; less severe respiratory impact in infants
Congenital  Central Tendon Defect — Very rare; defect in the central tendon of the diaphragm
Acquired Traumatic — Blunt force (e.g. RTA) or penetrating injury (e.g. stab wound) causing diaphragmatic rupture
Acquired Hiatal Hernia Sliding (Type I) GOJ and stomach slide superiorly through the oesophageal hiatus; most common type
Acquired Hiatal Hernia Paraesophageal (Types II–IV) GOJ remains in situ; portion of stomach herniates alongside oesophagus; Types III/IV involve increasing gastric herniation
Acquired Iatrogenic — Post-surgical diaphragmatic defect, typically following thoracic or upper abdominal procedures (e.g. oesophagectomy, fundoplication)

 

Robbin’s: Page 686

 

 

GI: Paedatric Pathology Case 1

A newborn presents with choking, coughing, and vomiting after taking the first feed. The nasogastric tube has passed but coils in the upper oesophagus.

The most likely diagnosis is oesophageal atresia, which is usually associated with a tracheoesophageal fistula.

Atresia, stenosis, fistulae, and duplications

These can occur anywhere in the gastrointestinal tract.

  1. Atresia is when there is a thin, non-canalised cord-like structure that replaces the normal structure.
  2. Stenosis is when the bowel is markedly narrowed. These are most clinically significant in the oesophagus and small intestine because of their relatively narrow lumen.
  3. A fistula is an abnormal communication between two epithelial-lined surfaces. The oesophagus and the trachea or bronchus in the examples below.
  4. Duplications are segments of the bowel that are duplicated!

Oesophageal atresia,

In the context of the oesophagus, atresia is very frequently associated with a tracheoesophageal fistula (and vice versa). There are a number of possibilities, with type C being the commonest.

en.wikipedia.org/…/Tracheoesophageal_fistula

Because there is a complete obstruction in the oesophagus immediately after birth, there are symptoms such as choking, coughing, and vomiting as a result of the obstruction, regurgitation and aspiration.

It should be noted that before birth, oesophageal atresia is associated with oligohydramnios

When an attempt is made to pass an oesophageal probe, it will not pass due to complete obstruction, which can be demonstrated on imaging.

Treatment is urgent surgery.

As usual, it is important to remember that once a congenital abnormality is present, there are likely to be others. Oesophageal atresia is, e.g., associated with an increased risk of imperforate anus.

In addition to atresia, congenital stenosis can occur. Other causes  (in adults)  of oesophageal stenosis include: gastroesophageal reflux, swallowing sodium hydroxide, radiation or scleroderma. Scleroderma and radiation also cause fibrosis in the lungs and heart (leading to cardiomyopathy).

Robbins:  page 685.