Pediatrics [CONGENITAL DEFECTS]

Congenital Diaphragmatic Hernia

If you hear bowel sounds over the lungs and there’s a scaphoid Crappy breath sounds. Literally and figuratively.
abdomen in a dyspneic baby, get a babygram to see the loops of
bowel in the thorax. These are from holes in the diaphragm. The
problem is not the hernia per se, which can be repaired easily, but the
hypoplastic lung that requires intubation and ventilation for baby’s
survival. You may need to supplement surfactant. Stabilize from a
cardiopulmonary perspective before repairing surgically.

Gastroschisis + Omphalocele
Extrusion of the bowel is both obvious and dangerous. The amount of Treatment
viscera on the outside usually determines the severity. Treatment of Cover visceral contents (plastic + saline gauze)
these conditions has significant overlap. Basically, cover viscera in a Place NG tube for decompression
sterile bag and place saline-soaked gauze over extruded contents to Maintain fluid balance (increased insensible losses)
prevent desiccation and infection. Place NG tube to keep the bowel Surgical treatment with silo
decompressed. Fluid balance is important as there can be a lot of loss
from the exposed areas. A lot of these can’t undergo primary closure;
they require placement of a covered silo to allow the extruded contents
to gradually re-enter the abdomen.

Gastroschisis is the right of midline and without a membrane. It’s

typically not associated with chromosomal abnormalities but is more
susceptible to twisting and infection. Think “angry sounding” and
“angry looking” disease.

Omphalocele is in the midline and covered with a membrane. It’s

more commonly associated with chromosomal abnormalities (such as
Beckwith-Wiedemann syndrome).
Omphalocele (nice) Gastroschisis (angry)
Exstrophy of the Bladder
Membrane + Midline Ø Membrane + ØMid
A midline defect might sound like gastroschisis, but if it’s red, shining,
and wet with urine it’s no bowel – it’s a bladder. Keep covered with
plastic barrier to prevent drying out. These are typically corrected
surgically within 2 days to 2 weeks for best outcomes.

Biliary Atresia
If a baby has persistent or worsening jaundice after 2 weeks of age,
consider this diagnosis. Labs will show a direct hyperbilirubinemia.
Ultrasound imaging may be helpful in both demonstrating absence of
intrahepatic ducts and ruling out other structural causes (masses,
stones). Additional testing is done if still unsure.
Testing hierarchy
Ultrasound plus liver function testing à
HIDA after phenobarbital stimulation à
Liver biopsy à Intraoperative cholangiogram

The test will almost always go after the HIDA scan, which after 5-7 Differential Diagnoses
days of phenobarbital stimulation can show lack of bile reaching Metabolic = amino acid/carbohydrate disorder
duodenum. Intraoperative cholangiogram can be done if still Genetic = A1AT deficiency, Cystic fibrosis
uncertain. Differential includes autoimmune and metabolic disorders. Anatomic = Choledochal cyst
Fatal without intervention, ultimately treat with Kasai procedure
(hepatoportoenterostomy).

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 Pediatrics [CONGENITAL DEFECTS]

Neural Tube Defects (Spina Bifida)
Neural tube disorders are a product of genetic syndromes and folate
deficiency in mom during pregnancy. Spina bifida stems from
difficulties with fusion of the caudal neural tube. That means the front
of the spine forms normally, but back of it doesn’t. This is a spectrum
of disease, from an incomplete spine but with skin intact (Spina Bifida Normal Occulta Meningo- Meningomyelo-
Occulta) to a complete open sac of neural tissue and CSF cele cele
(meningomyeloscele). Spina Bifida is treated (Folate supplementation)
and screened for during pregnancy. A Positive AFP screen will prompt
an Ultrasound of baby revealing the defect. If prenatal care was absent,
the physical exam of the neonate could show something as subtle as a Occulta = bony defect without protrusion of meninges
tuft of hair or a dimple up to something as obvious as a large sac-like or spina cord; may have overlying hair
structure.
Meningocele = extrusion of meninges (no spinal cord)
Surgical repair is required to prevent neural symptoms. Exposure of the in sac outside spine
CSF and the nerves can cause problems below the lesion: motor,
sensation, and bowel/bladder function. Myelomeningocele = extrusion of meninges and spinal
cord in sac outside spine
Patients with myelomeningocele can also have Chiari malformation
(type 2) which can lead to upper extremity and respiratory symptoms.
Hydrocephalus can lead to learning disabilities.

Cleft Lip/Palate
Cleft lip and palate stem from failure of growth and fusion of the
underlying structures. They can occur individually or in combination.
The cleft lip can be minimal and only involve superficial structures or
it can run deeper down to the teeth and bone. It can be unilateral or
bilateral. Cleft palate can involve the soft and hard palate. Exposure
of the nasal cavities through the palate can occur when these two
conditions occur together.

Feeding is the biggest issue up front. Usually bottles with special

nipples can be used without issue. Cleft lips are repaired by 10-12 weeks
and palates by 10-12 months to preserve speech function.
Complications can include frequent episodes of otitis media, feeding
difficulties, possible hearing difficulties, and speech pathology if not
repaired appropriately.

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