CONGENITAL/HERIDITARY DISEASES

Atresia

a congenital absence/closure of a normal body orifice/tubular organ

Esophageal Atresia

rare congenital anomaly

esophagus fails to develop past some point

Esophageal Atresia

cause: defect in cell differentiation of the trachea and esophagus during the 4th-6th week of embryonic development

Esophageal Atresia

sympotoms:

• excessive salivation

• choking

• gagging

• dyspnea

• cyanosis

Esophageal Atresia

diagnosis:

may be established by inability to pass NG tube into the stomach

Ileal Atresia

congenital discontinuation of the ileum

Ileal Atresia

most frequent type of bowel atresia

Ileal Atresia

symptoms:

• abdominal distension

• inability to pass stool

• regurgitates feedings

Duodenal Atresia

lumen of the duodenum does not exist

Duodenal Atresia

double bubble sign

Colonic Atresia

failure to develop of the distal rectXm and anXs

Colonic Atresia

frequent complication is fistula formation to the genito-urinary system

Imperforate Anxs/Anxl Agenesis

anal opeing to the exterior is absent

Rectovesical fistula

High Anomaly of Imperforate Anxs/Anxl Agenesis

Hypertrophic Pyloric Stenosis

anomaly of the stomach

the pyloric canal leading out of the stomach is greatly narrowed because of hypertrophy and hyperplasia of the pyloric sphincter

most common indication of surgery in infants

Hypertrophic Pyloric Stenosis

symptoms:

fail to gain weight

dehydrated

Hypertrophic Pyloric Stenosis

diagnosis

olive sign of pyloric muscle

Sonography

Hypertrophic Pyloric Stenosis GOLD STANDARD

• without the need for radiation exposure

4.8/0.6mm

HPS: abnormal muscle wall thickness __, compared with 1.8/0.4mm in normal persons

double track sign

thin tracks of barium are compressed between thickened pyloric mucosa

shoulder sign

barium collects in the dilated prepyloric antrum.

String sign

passing of barium streak through pyloric canal.

Diamond sign

niche in mid of pyloric canal with apex inferiorly sec. to mucosal bulging b/w 2 separated hypertrophic muscle bundles on G.C side.

P. Teat sign

outpouching along lesser curvature due to disruption of antral peristalsis

Caterpillar sign

gastric hyperperistaltic waves

Mushroom sign

indentation of base of bulb.

Gastric emptying

An upper GI study demonstrates delayed gastric emptying accompanied by the mass impression of the hypertrophied pyloric muscle on the:

Barium-filled antrum ("shoulder sign")

Filling of the proximal pylorus ("beak sign")

Entire elongated pylorus ("string sign")

Malrotation

exists when the intestines are not in their normal position

varying degrees of (blank) of the intestinal tract

• Failure of fixation of the cecum in the RLQ to complete transposition of the bowel

• A condition in which the small bowel is on the right and the colon is on the left.

Congenital Aganglionic Megacolon

Hirschsprung Disease aka

Congenital Aganglionic Megacolon

Cause

• Exact cause is unknown.

• A link to inheritance of the "rearranged during transfection" (RET) proto-oncogene localized to chromosome 10.

• A malformation of the parasympathetic nervous system

Congenital Aganglionic Megacolon

Result

• Gross dilatation of the colon to the point of narrowing and

constriction

Meckel Diverticulum

a congenital diverticulum of the distal ileum

Meckel Diverticulum

saclike anomaly

Meckel Diverticulum

located within 6 feet of the ileocecal valve and is remnant of a duct connecting the small bowel to the umbilicus

meckel diverticulum

signs:

develops an ulcer in the adjacent bowel

repeated episodes of bleeding from the ulcerated site

in adults:

• cramping vomiting bowel obstruction

• Mimic those of appendicitis except for the location of the pain

Gluten-sensitive enteropathy

Celiac Spruce or Celiac Disease also known as

Gluten-sensitive enteropathy

radiographic changes:

• segmentation of the barium column

• flocculation/resembling tufts or cotton

• edematous mucosal changes