Posted by e-Medical PPT Friday, August 17, 2012
Congenital Diaphragmatic Hernia
Estimated Incidence to be between 1/2000 to 5000 live births
Cause of CDH is unknown
In most cases the defect is established by gestational week 12
Classic left sided CDH features a 2-4 cm posterolateral defect
Herniated contents often include the left lobe of the liver, the spleen, and almost the entire GI tract
Long term compression of the developing fetal lungs results in pulmonary maldevelopment and lung hypoplasia
Alveolar development is also severely affected

Esophageal Atresia and Tracheoesophageal Fistula
EA and TEF are relatively common congenital anomalies
Associated Anomalies:VACTERL: vertebral, anal, cardiac, TE,  renal,  limb

Congenital Intestinal Obstruction
Duodenal Atresia
Most common site of neonatal intestinal obstruction
Association with Trisomy 21

Radiologic studies
Plain radiograph of the abdomen will generally confirm the diagnosis with a finding of the “double bubble sign
Upper GI series or barium enema may be helpful to differentiate from midgut volvulus

Meconium Ileus
Almost always associated with cystic fibrosis
Reported to be the presenting symptom in 15-20% of cases
Complicated meconium ileus
 In utero dilated proximal intestine volvulizes
 Early in gestation may cause one or more atresias
 Late in gestation infants may present with perforation -> meconium peritonitis

Radiologic Studies – Simple Meconium Ileus
Plain radiographs
Varying sized loops of distended bowel
Absence of air fluid levels
Soap bubble appearance particularly in the right lower quadrant

Intestinal Malrotation and Volvulus
Malrotation is when the normal process of rotation is arrested or deviated at various stages
Anomalous fixation may also occur
Dense fibrous bands extending from the cecum and right colon across the duodenum to the retroperitoneum may form – Ladd’s Bands

Hirschsprung’s Disease
Absence of ganglion cells in the distal intestine is the hallmark of the disease
Ganglion cells are absent in the submucosal plexus and intermuscular plexus
Rectosigmoid region in ~80% of cases
Aganglionosis is almost always continuous distally

Rectal biopsy is the gold standard

Imperforate Anus
Average incidence worldwide is believed to be 1 in 5000 live births
Most common in females – rectovestibular fistula
Most common in males – rectourethral fistula
Imperforate anus without fistula 5% of patients and half of these patients have Down’s syndrome
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