3. EXOMPHALOS (@OMPHALOCOELE)
•
Greek word : 'outside the navel‘
•
Congenital abnormality in which the contents
of the abdomen herniate into the umbilical
cord through the umbilical ring.
•
Viscera (often includes liver) covered by a thin
membrane (consists of peritoneum and
amnion)
4. GASTROSCHISIS
•
Literal meaning: 'stomach cleft‘
•
Congenital defect of the abdominal wall,
usually to the right of the umbilical cord
insertion
•
Abdominal contents herniate into amniotic
sac, usually just involving the small intestine
but sometimes also the stomach, colon and
ovaries with NO covering membrane
5. •
Ventral body wall defects include ectopia
cordis, bladder exstrophy, and the abdominal
wall malformations gastroschisis and
omphalocele. The etiology of ectopia cordis,
gastroschisis, and bladder exstrophy is not
known, but they may be linked to
abnormalities in the lateral body wall folds
responsible for closing the thoracic,
abdominal, and pelvic portions of the ventral
body wall. These folds form in the fourth week
6. epidemiology
•
Exact estimation-difficult
•
E 2.5 in 10,000 births ; G 1 in 10,000 births
•
Incidence of gastroschisis : 4-5 per 10,000 live
births
•
50% of exomphalos has genetic abnormalities
•
Risk factors include:
-Maternal illnessess, drugs, alcohol, smoking
8. Exomphalos Gastroschisis
4-12 cm abdominal wall defect Opening usually < 5 cm
central, epigastric or hypogastric At the right of the umbilical cord
More association with congenital defects
(74.4% )
Less association with congenital defects
(16.6%)
A large defect may be associated with
underdevelopment of the abdominal and
thoracic cavities
Less variation in size
Covered with membrane Not covered with membrane
Sac feels firm and may contain liver and
tightly packed bowel
Sac feels softer as contains only free loops
of bowel
9. Other differentials to consider
1. Physiological bowel herniation.
•
At 10-13 weeks of gestation detected on USS.
•
Repeat scan at 15 weeks –disappeared. A large defect which
contains liver indicates exomphalos at any stage.
2. Umbilical hernia
•
Frequent in premature infants. Can be dx with USS
3. Amniotic band syndrome
•
Accidental break in the inner amniotic membrane
•
Appearance similar to gastroschisis but USS- atypical location of the
defect and contiguity with amniotic membranes.
10. 4. Extrophy of the urinary bladder
•
USS in female babies- mass superior to the genitalia.Serial scans -
fail to demonstrate the presence of a bladder,
5. Limb-body wall complex
•
USS-severe and fatal anterior abdominal wall defect lateral to the
umbilical cord insertion point. O
•
May have other defects: heart, limbs, brain and spine
6. Pseudo-omphalocele
•
Structurally normal abdomen which has been changed in shape by
external pressure eg from an USS transducer and oligohydramnios .
11. Associated diseases-exomphalos
ü
Thoraco-abdominal pentalogy of Cantrell
-Cleft sternum, anterior diaphragmatic hernia, heart defects
(ventricular septal defect and ectopia cordis) and absent pericardium
ü
Beckwith-Wiedemann syndrome
-Congenital overgrowth condition characterised by exomphalos,
macroglossia and gigantism
ü
Genetic disorders- Trisomy 13, 18 and 21
ü
Cloacal extrophy
-Low exomphalos + bladder or cloacal extrophy and may have caudal
anomalies, eg meningomyelocele, lower-limb anomalies.
ü
Dental malocclusion and musculoskeletal abnormalities
12. Ectopia cordis and ectopic umbilicus with sternal and upper abdominal wall defect
13. Associated disease-gastrochisis
•
Less than in exomphalos (7-30% of babies)
ü
HEAD: Anencephaly, cleft lip and palate
ü
THORAX & ABDO : ectopia cordis, ASD
diaphragmatic hernia,intestinal atresia,
malabsorption, atypical appendicitis, midgut
volvulus, GORD and Hirshsprung
ü
LIMB : scoliosis, syndactyly and amniotic band
14. Investigations
•
Maternal serum alpha-fetoprotein (MSAFP) level
•
Karyotyping
•
USS
•
MRI
•
In exomphalos- renal ultrasound, echo and sacrum xray
may be useful to exclude associated abnormalities.
•
Raised alpha-fetoprotein + USS suggestive of
exomphalos = amniocentesis
15. Management -exomphalos
•
If sac intact- usually medically stable
•
If sac ruptures, the medical treatment = same with gastroschisis
•
IV fluids
•
Sac covered with non-adherent gauze
•
Replacement of the contents within the abdominal cavity and
surgical closure usually without much difficulty with small- to
moderate-sized sacs.
•
Closure of a giant omphalocele containing the liver is ALWAYS
challenging
-may need temporary artificial holding sac (a silo)
-large defect may need artificial patch eg natural biomaterials (dural
and bovine patches)
16. Management -gastroschisis
•
Schedule preterm delivery
•
May need to delay primary closure of defect if the intestines are
too inflamed (Too tight closure must be avoided in order to
prevent respiratory problems and a reduction in cardiac output).
•
Medical stabilisation pre-op:
-
Respiratory distress –intubation
-
IV fluids and monitor I/O
-
Radiant heater to minimise heat loss
-
Start a broad-spectrum antibiotic
-
Consider TPN
•
Sac will require temporary protection in a silo
17. Complications
•
Failure to thrive- metabolic drain affecting nitrogen balance
•
Prolonged parenteral feeding can lead to hepatomegaly and
cholestasis
•
Infection-in gastroschisis,Enterobacter spp. and Klebsiella
spp. main pathogenic bacteria found in the gut
•
Prolonged hospital stay due to multiple surgeries
•
In gastroschisis- intestinal atresia( 10-20%) and malabsorption
syndromes
•
Short bowel syndrome if significant loss of viable bowel .
18. •
Prognosis
•
The prognosis of both conditions has
improved considerably over 35 years, due to
the improvement in ventilatory care and total
parenteral nutrition. In gastroschisis in
particular, such improvements have increased
the incidence of primary closure, with
lessening of the complications of delayed
surgery, such as sepsis.
•
Significant morbidity, however, still occurs. In
Editor's Notes
Any conditions that cause placental insufficiency
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which results in the fetus being exposed to fibrous amniotic bands.
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Fail to demonstrate bladder and abnormalities of other urogenital system
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Occlusion refers to the alignment of teeth and the way that the upper and lower teeth fit together (bite).
Malocclusion- misalignment
Class 1 malocclusion is the most common. The bite is normal, but the upper teeth slightly overlap the lower teeth.
Class 2 malocclusion, called retrognathism or overbite, occurs when the upper jaw and teeth severely overlap the bottom jaw and teeth.
Class 3 malocclusion, called prognathism or underbite, occurs when the lower jaw protrudes or juts forward, causing the lower jaw and teeth to overlap the upper jaw and teeth.
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Cantrell, Haller, and Ravitch, in 1958, were the first to describe this syndrome, which is characterized by a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium, and congenital intracardiac defects
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These are raised in exomphalos and gastroschisis. The levels are higher in gastroschisis than in omphalocele.
The strong link between exomphalos and chromosomal abnormalities makes karyotyping an essential part of the investigation of this condition.
This may be helpful as an adjunct to ultrasonography, particularly in identifying abnormalities in the position of the liver.
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Both multidisciplinaryy!
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are too inflamed and hence too enlarged to be replaced in the abdominal cavity.
Unlike exomphalos, evidence derived from a review of the literature is more definitive in finding no difference between immediate repair and delayed closure.[12] However, immediate repair offers distinct theoretical advantages from the point of view of physiological status.[18]
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