Infant Born with Abdominal Wall Defect


Diagnosis

Common features

Distinguishing features

Gastroschisis

Medial abdominal wall defect with evisceration of abdominal contents

No membrane over abdominal contents

Evisceration usually to the right of umbilical stalk

Higher risk to intestinal viability

Diagnosis impossible before 12 weeks

Omphalocele

Midline abdominal wall defect with herniation of abdominal contents

Amnioperitoneal membrane covers abdominal contents

Umbilical cord inserts into membrane

Associated with other birth defects

Diagnosis possible before 12 weeks if liver herniation present

Bladder or cloacal exstrophy

Extra-abdominal/pelvic sac containing herniated hemibladders, urethra, and possibly kidney and intestine

Defect usually inferior to umbilical stalk

Two hemibladders separated by intestine

Extensive defects associated with omphalocele and epispadias

Prune belly syndrome

Abdominal wall hypoplasia

Abdominal viscera contained within collagenous wall

95 % are in males

Associated with hypoplastic prostate, bilateral undescended testes, infertility, and bladder outlet obstruction

Urachal abnormality

Communication of bladder and anterior abdominal wall, may be associated with cyst or sinus

Communication between bladder and a cystic mass pathognomonic for patent urachus

Often associated with omphalocele and neural tube defects





What Is the Most Likely Diagnosis in This Case?


The most likely diagnosis is gastroschisis in this case. The infant’s mother has several risk factors associated with gastroschisis, including young age, Caucasian race, low body mass index (BMI), singleton pregnancy, and recent tobacco use. Prenatal ultrasound detects gastroschisis in about 70 % of cases. It is effective in distinguishing gastroschisis from omphalocele, and it is useful to evaluate visceral blood flow. In this case, the patient is born with eviscerated bowel and no sac, strongly suggesting a diagnosis of gastroschisis (Fig. 34.1a).

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Fig. 34.1
Gastroschisis (a) and omphalocele (b)



History and Physical Examination



Which of the Above Diagnoses Are the Most Common?


Gastroschisis occurs in 1 in 2–10,000 live births, while omphalocele occurs in 1 in 4–5,000 live births. The rest of the conditions are rare, occurring in fewer than 1 in 40,000 live births.


What are the Specific Differences Between Gastroschisis and Omphalocele?





























































Factor

Gastroschisis (Fig. 34.1a)

Omphalocele (Fig. 34.1b)

Location

Paraumbilical (usually right-side)

Umbilical, epigastric, or hypogastric

Defect size

Often small (<5 cm)

Variable, often large

Cord insertion

Normal in umbilicus

Inserts in membrane

Membrane

Absent

Present (10–20 % rupture)

Contents

Bowel (gonads, liver, stomach)

Bowel, liver

Bowel

Matted, dilated, or thickened

Normal

Malrotation

Often present

Present

Abdominal cavity

Small

Small

Maternal AFP level

Elevated (greater than omphalocele)

Elevated

GI function

Ileus

Normal

Associated GI anomalies

Intestinal atresia (10–25 %)

Nonspecific, but higher overall risk

Other associated anomalies

Rare

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May 13, 2017 | Posted by in GENERAL SURGERY | Comments Off on Infant Born with Abdominal Wall Defect

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