Gastrointestinal System

Disorders

Anna Marie M. Ventulan, MD, DPPS, DPSNbM

Vomiting
• Frequent symptom
• Rarely persistent after the first few feedings
• Obstructive lesions of the GI tract
– most frequent gastrointestinal anomalies
– history of maternal polyhydramnios suggests upper
gastrointestinal (esophageal, duodenal, ileal) atresia
– Esopahgeal atresia- vomiting with excessive drooling;
resistance to pass a catheter into the stomach
– Chalasia- regurgitation of feedings because of continuous
relaxation of esophageal–gastric sphincter
Vomiting
– Obstruction of the SI

• 1st day of life and is frequent, persistent, usually

nonprojectile, copious, and, unless the obstruction is
above the ampulla of Vater, bile-stained

• Vomiting with obstipation is a common early sign of

Hirschsprung disease
Constipation
• More than 90% of FT neonates pass meconium
within the 1st 24 hr

• Approximately 20% of VLBW infants do not pass

meconium within the 1st 24 hr

• Sign of short-segment congenital aganglionic

megacolon, hypothyroidism, strictures,
necrotizing enterocolitis, anal stenosis
Meconium Ileus, Peritonitis and
Interstinal Obstruction
 Meconium plug syndrome
• intestinal obstruction (distal colon, rectum, and anal
canal) caused by meconium plugs
• cause mucosal ulceration from bowel wall erosion
and subsequent intestinal perforation
• associated with small left colon syndrome in infants
of diabetic mothers, CF (40%), Hirschsprung disease
(40%), maternal opiate use, magnesium sulfate
therapy for preeclampsia, tocolysis
• Initial treatment: glycerin suppository or rectal
irrigation with isotonic saline
 Meconium Ileus
• impaction of inspissated meconium in the distal small bowel
• accounts for up to 30% of cases of neonatal intestinal
obstruction
• common in patients with CF in whom the lack of fetal
pancreatic enzymes inhibits digestive mechanisms, and
meconium becomes viscid and mucilaginous
• Clinical presentation: intestinal obstruction with or without
perforation, prominent abdominal distention and bilious
vomiting
• Can present as early as in utero
• Prenatal diagnosis
– Ultrasound- identification of enlarged bowel loops or a
mass with distention of the proximal small bowel.
• Clinical diagnosis
– history of CF in a sibling
– by palpation of doughy or cordlike masses of intestines
through the abdominal wall
– Plain radiographs reveal small bowel obstruction, bowel
loops may vary in width and are not as evenly filled with
gas. At points of heaviest meconium concentration, the
infiltrated gas may create a bubbly, granular appearance
• Treatment
– high-osmolarity Gastrografin enema, as described
for meconium plugs.
– Laparotomy- if the procedure is unsuccessful or
perforation of the bowel wall is suspected
 Meconium Peritonitis
• perforation of the intestine in utero or shortly after
birth
• occur most often as a complication of meconium
ileus in infants with CF; result from a meconium plug;
in utero intestinal obstruction of another cause.
• diagnosed on prenatal ultrasound with fetal ascites,
polyhydramnios, bowel dilation, intraabdominal
calcifications, and hydrops fetalis
• some patients remain asymptomatic
• signs of intestinal obstruction (as in meconium
ileus) with abdominal distention, vomiting, and
absence of stools or chemical peritonitis presenting
with sepsis
• Treatment consists primarily of elimination of the
intestinal obstruction and drainage of the
peritoneal cavity with a timely surgical intervention
•
 NECROTIZING ENTEROCOLITIS
• most common life-threatening emergency of the
gastrointestinal tract in the newborn period
• Onset: 2nd to 3rd week of life up to as late as 3
months in VLBW
• Prematurity: most important risk factor
• Cause is multifactorial
– Triad of intestinal ischemia (injury), enteral nutrition
(metabolic substrate), and bacterial translocation
• Most frequently involved: distal part of the
ileum and the proximal segment of colon
• Pathogenesis: necrotic segment of intestine,
gas accumulation in the submucosa of the
bowel wall (pneumatosis intestinalis), and
progression of the necrosis to perforation,
peritonitis, sepsis, and death
• Coagulation necrosis- characteristic histologic
finding
DIAGNOSIS
• Clinical
• Plain abdominal radiograph
– Pneumatosis intestinalis
– Portal venous gas
– Pneumoperitoneum
 Management of NEC
• Rapid initiation of therapy is required for
suspected as well as proven cases of NEC
– supportive care and preventing further injury with
cessation of feeding, nasogastric decompression,
and administration of intravenous fluids
– Antibiotics
– Ventilation
– Volume replacement/ Inotropes
– Surgery if with evidence of perforation
Jaundice and Hyperbilirubinemia
• Common, usually a benign problem in
neonate
• yellow discoloration of the skin due to
accumulation of unconjugated, nonpolar, lipid-
soluble bilirubin pigment or deposition of
pigment from conjugated bilirubin
 Pathophysiology
hemoglobin
heme oxygenase

biliverdin

reabsorbed in small
Cis-bilirubin + albumin
intestine
enters hepatocyte

binds with ligandin

unconjugated bilirubin
intracellularly

UDPGT
B-glucuronidase
Bilirubin + glucuronic acid

urobilinogen excreted
 1
Indirect Serum Bilirubin Concentration
and Its Relation To The Progression
of Dermal Icterus in Full-Term Infants*

2
Bilirubin (mg/100 mL)
Dermal
Zone Mean ± SD Range Observations

5 3 5 1 5.9 ± 0.3 4.3 ± 7.9 13

2 8.9 ± 1.7 5.4 ± 12.2 49
3 11.8 ± 1.8 8.1 ± 16.5 52
4 15 ± 1.7 11.1 ± 18.37 45
5 >15 29

4
*Includes all infants whose rate of serum bilirubin rise was 0.7
mg/dL/h or less.

5
Dermal Zones of Jaundice
 Kramer’s Classification
(Cephalopedal Progression)
Zone Jaundiced Areas Serum Bilirubin
(mg/dl)
I Head/Neck 6-8

II Upper trunk 9-12

II Lower trunk/Thigh 12-14

IV Arms/Legs/Elbows/Knees 15-18

V Hands/Feet >18
 Unconjugated Hyperbilirubinemia
caused by factors that:
1. increases the load of bilirubin to be
metabolized by the liver (hemolysis,
hemorrhage, polycythemia, shortened RBC
survival, infection, increase enterohepatic
circulation)
2. damages or reduces the activity of the
transferase enzyme or other related enzymes
(genetic, hypoxia, thyroid deficiency)
3. competes for or blocks the transferase
enzyme (drugs and other substances requiring
glucuronic acid conjugation)

4. leads to an absence or decreased amounts of

the enzyme or to reduction of bilirubin uptake
by liver cells (genetic defect, and prematurity)
• Other causes
– Delay in passage of meconium
– oxytocin (in the mother) and chemicals used in the
nursery such as phenolic detergents
• Additional risk factors: polycythemia,
infection, prematurity, and having a diabetic
mother.
 Risk Factors for Hyperbilirubinemia in
Newborns
Maternal factors:
• Blood type ABO or Rh incompatibility
• Breastfeeding
• Drugs: diazepam (Valium), oxytocin
(Pitocin)
• Ethnicity: Asian, Native American
• Maternal illness: gestational diabetes
Neonatal Factors:
• Drugs: sulfisoxazole acetyl with erythromycin
ethylsuccinate (Pediazole), chloramphenicol
(Chloromycetin)
• Excessive weight loss after birth
• Infections: TORCH
• Infrequent feedings
• Male gender
• Polycythemia
• Prematurity
• Previous sibling with hyperbilirubinemia
Physiologic jaundice
• level of indirect bilirubin in umbilical cord serum is
1-3 mg/dL
• rises at a rate of <5 mg/dL/24 hr
• Visible on the 2nd to 3rd day of life
• resolves spontaneously on the 5th and 7th days of
life
• Preterms: the rise in serum bilirubin tends to be
the same or somewhat slower but of longer
duration; Peak levels of 8-12 mg/dL is on the 4th-
7th day, resolve around the 10th day
Factors that contribute to the development of
physiologic hyperbilirubinemia in the neonate:
• increased bilirubin load because of relative
polycythemia
• a shortened erythrocyte life span (80 days
compared with the adult 120 days)
• immature hepatic uptake and conjugation
processes, and increased enterohepatic
circulation
 Pathologic Hyperbilirubinemia
• Onset: 1st 24-36 hr after birth
• Rate of rise > 5 mg/dL/24 hr
• serum bilirubin is >12 mg/dL in a full-term infant (especially
in the absence of risk factors) or 10-14 mg/dL in a preterm
infant
• jaundice persists after 10-14 days after birth
• direct bilirubin fraction is >2 mg/dL at any time
• Factors suggesting a pathologic cause
– family history of hemolytic disease
– pallor, hepatomegaly, splenomegaly
– failure of phototherapy to lower the bilirubin level
– vomiting, lethargy, poor feeding,
Direct / conjugated hyperbilirubinemia
• Sign of hepatobiliary dysfunction
• Decreased excretion by damaged hepatic parenchymal
cells
• Disease of the biliary tract – sepsis, endocrine, metabolic,
or genetic
• Inflammation of the liver
• Obstruction
• appears after the first week of life
• DB >2mg/dL or is 20% of the TB, it s clinically significant
Causes:
• Idiopathic neonatal hepatitis
– Most common cause
• Biliary atresia
– Progressive obliterative process involving the bile ducts
→ idiopathic neonatal hepatitis and biliary atresia account
for 60 – 80% of all conjugated hyperbilirubinemia cases
• Hyperalimentation
• Sepsis
• Intrauterine infection
– TORCH, hepa B and C, and syphilis
• Alpha-antitrypsin deficiency
– Most common genetic cause of cholestasis
Early-Onset Breastfeeding Jaundice

– Breastfed newborns may be at increased risk for

early-onset exaggerated physiologic jaundice
because of relative caloric deprivation in the first
few days of life

– Decreased volume and frequency of feedings may

result in mild dehydration and the delayed
passage of meconium.
Early-Onset Breastfeeding Jaundice

– Compared with formula-fed newborns, breastfed

infants are three to six times more likely to
experience moderate jaundice (total serum
bilirubin level above 12 mg per dL) or severe
jaundice (total serum bilirubin level above 15 mg
per dL
Late-Onset Breast Milk Jaundice
– Breast milk jaundice occurs later in the newborn
period, with the bilirubin level usually peaking in the
sixth to 14th days of life

– develop in up to one third of healthy breastfed infants.

– Total serum bilirubin levels vary from 12 to 20 mg per

dL (340 µmol per L) and are nonpathologic.

– The underlying cause of breast milk jaundice is not

entirely understood.
Late-Onset Breast Milk Jaundice

– Substances in maternal milk, such as ß-

glucuronidases, and nonesterified fatty acids, may
inhibit normal bilirubin metabolism.

– The bilirubin level usually falls continually after the

infant is two weeks old, but it may remain
persistently elevated for one to three months.
Management
Phototherapy

• TB levels of 20mg/dL at 48h of life

• If TB decreases by 1-2mg/dL within 4 – 6 hours of
starting phototherapy, exchange transfusion not
necessary
• Light source: blue fluorescent tubes
• Distance: 12 – 16 inches
• Termination: bilirubin level low enough to
eliminate the risk of kernicterus
• Efficacy of phototherapy depends on several
important factors
– The ideal configuration is four special blue bulbs
(F20T12/BB) placed centrally, with two daylight
fluorescent tubes on either side
– Ideally, all lights should be 15 to 20 cm from the
infant.
– To expose the greatest surface area, the newborn
should be naked except for eye shields.
– the only contraindication to the use of
phototherapy is conjugated hyperbilirubinemia
• “Intensive phototherapy”- irradiance in the blue-
green spectrum (wavelengths of approximately 430–
490 nm) of at least 30 W/cm2 per nm and delivered
to as much of the infant’s surface area as possible.

• If the total serum bilirubin does not decrease or

continues to rise in an infant who is receiving
intensive phototherapy, this strongly suggests the
presence of hemolysis.
• Complications using phototherapy
– dark grayish-brown discoloration of the skin
(bronze baby syndrome).
– burns, retinal damage, thermoregulatory
instability, loose stools, dehydration, skin rash, and
tanning of the skin
– Because phototherapy is continuous, treatment
also involves significant separation of the infant
and parents.
Exchange transfusion
– the most rapid method for lowering serum
bilirubin concentrations
– removes partially hemolyzed and antibody-coated
erythrocytes and replaces them with uncoated
donor red blood cells that lack the sensitizing
antigen.
– Double volume exchange replaces 85% of the
circulating red blood cells and decreases the
bilirubin level to about half of the preexchange
value
• Exchange transfusions should be performed only by
trained personnel in a neonatal intensive care unit
with full monitoring and resuscitation capabilities
Intravenous Immunoglobulin
– adjunctive treatment for hyperbilirubinemia
caused by isoimmune hemolytic disease
– Its use is recommended when serum bilirubin is
approaching exchange levels despite maximal
interventions including phototherapy.
– Dose: 0.5-1.0 g/kg/dose; repeat in 12 hr
– reduces the need for exchange transfusion in
both ABO and Rh hemolytic disease, presumably
by reducing hemolysis.
Kernicterus

• Bilirubin encephalopathy
• Chronic, permanent clinical sequelae of
bilirubin toxicity
• Resulting from deposits of unconjugated
bilirubin within the brain.
• Visualized as yellow staining of basal ganglia,
hippocampus, geniculate bodies, brain stem
nuclei and cerebellum
• Causing neuronal necrosis
• Bilirubin levels at which kernicterus occurs
vary depending on the presence of hemolytic
disease and gestational age
• No “safe” levels of bilirubin have been
identified
• Thought to be highly preventable in most
cases
 CLINICAL MANIFESTATIONS
• Signs and symptoms of kernicterus usually appear 2-
5 days after birth in term infants and as late as the
7th day in preterm infants
• Hyperbilirubinemia may lead to encephalopathy at
any time during the neonatal period
• Early signs may be subtle and indistinguishable from
those of sepsis, asphyxia, hypoglycemia, intracranial
hemorrhage, and other acute systemic illnesses in a
neonate.
• Lethargy, poor feeding, and loss of the Moro reflex
are common initial signs.
 CLINICAL MANIFESTATIONS

• Opisthotonos with a bulging fontanel,

twitching of the face or limbs, and a shrill
high-pitched cry may follow.
• In advanced cases, convulsions and spasm
occur, with affected infants stiffly extending
their arms in an inward rotation with the fists
clenched.
• Rigidity is rare at this late stage.
 Prevention
• Effective prevention requires ongoing vigilance
and a practical, system-based approach in
order to distinguish infants with benign
newborn jaundice from those whose course
may be less predictable and potentially
harmful.
American Academy of Pediatrics has identifed
potentially preventable causes of kernicterus, as
follows:

1. early discharge (<48 hr) with no early follow-up

(within 48 hr of discharge); this problem is particularly
important in near-term infants (35-37 wk of gestation)
2. failure to check the bilirubin level in an infant noted
to be jaundiced in the 1st 24 hr
3. failure to recognize the presence of risk factors for
hyperbilirubinemia
4. underestimation of the severity of jaundice by
clinical (visual) assessment
5. lack of concern regarding the presence of
jaundice
6. delay in measuring the serum bilirubin level
despite marked jaundice or delay in initiating
phototherapy in the presence of elevated
bilirubin levels
7. failure to respond to parental concern
regarding jaundice, poor feeding, or lethargy
Recommendations:
1. any infant who is jaundiced before 24 hr requires measurement of
total and direct serum bilirubin levels and, if it is elevated,
evaluation for possible hemolytic disease
2. follow-up should be provided within 2-3 days of discharge to all
neonates discharged earlier than 48 hr after birth.
3. Early follow-up is particularly important for infants younger than 38
wk of gestation.
4. Timing of follow-up depends on the age at discharge and the
presence of risk factors.
5. In some cases, follow-up within 24 hr is necessary.
6. Postdischarge follow-up is essential for early recognition of
problems related to hyperbilirubinemia and disease progression.
Abdominal Wall Defects
 Omphalocoele
• failure in the folding mechanism that converts the
flat trilaminar germ disc into a complex “tubular”
structure starting at about 5 weeks’ gestation
• The lateral body folds and craniocaudal folds
converge at the umbilical ring, which contracts,
closing the ventral abdominal wall. In patients with
omphalocele, this ring fails to contract and leaves
a round defect of variable size and a corresponding
sac composed of amnion
• Central abdominal wall defect of variable size
is covered by a domelike mesenchymal
membrane composed of amnion.
• The umbilical cord connects to the central
portion of this membrane.
• The underlying abdominal organs are
protected from exposure to amniotic fluid.
• Incidence of about 2 to 2.5 per 10,000 live
births
• associated with other structural or genetic
defects in 50% to 75% of affected infants
• Associated anomalies involve the
cardiovascular, gastrointestinal, genitourinary,
or central nervous systems
– account for most of the morbidity in these patients.
• Syndromes most often associated
– VACTERL association
– Beckwith- Wiedemann syndrome (macrosomia,
macroglossia, visceromegaly, hemihypertrophy,
hypoglycemia, renal pathology)
– EEC syndrome (ectodermal dysplasia, ectro- dactyly, cleft
palate)
– OEIS complex (omphalocele, exstrophy, imperforate anus,
spinal defects).
– An often reported association of omphalocele with
cryptorchidism is unsubstantiated.
– Chromosomal abnormalities: trisomies 13, 18, and 21
 Gastroschisis
• Sporadic in majority of cases
• Incidence of gastroschisis is approximately 1.5
per 10,000 live births and increasing.
• Risk factors include young maternal age, lower
socioeconomic status, and exposure to external
agents such as vasoconstricting decongestants,
nonsteroidal anti-inflammatory agents,
cocaine, and possibly pesticides/herbicides
• Abdominal wall defect, to the right of a
normally inserted umbilical cord, without
membranous covering of the extruded organs.
• Etiologically it has been suggested that
gastroschisis represents a failure in the normal
attachment between umbilical cord and
umbilical ring
• Morbidity in infants with gastroschisis, as
opposed to those with omphalocele, is almost
entirely related to intestinal dysfunction
caused by in utero injury to the eviscerated
bowel.
• Primary closure or staged silo bag closure
 Imperforate Anus
• occurs in 1 of every 4000 to 5000 newborns.
• The estimated risk for a couple having a
second child with an anorectal malformation
is approximately 1%.
• The frequency of this defect is slightly higher
in male than in female patients.
• More than 80% of male patients with
imperforate anus have a fistulous connection
between the rectum and the urinary tract.
• Rectovesical- from the rectum to the bladder
• Rectoprostatic- to the prostatic urethra
• Rectobulbar- to the bulbar urethra.
• Perineal fistula- rectal fistula opens onto the
perineal skin
• An unusual form of imperforate anus occurs
when the rectum ends blindly in the pelvis.
– More than 50% of these patients have Down
syndrome and almost all patients with Down
syndrome and imperforate anus have this variant.
• Female patients
– three main types of malformations:
1. perineal fistulas- the rectum opens on the perineal
skin anterior to the anal dimple.
2. vestibular fistulas- opens in the posterior aspect of
the introitus but outside the hymen.
3. complex malformations called cloacae-
malformation in which the rectum, vagina, and
urethra all open into a common channel of variable
length, which then opens onto the perineum.
APPROACH TO CONGENITAL
HEART DISEASE
 Reasons for Referral:
• Murmur
• Cyanosis
• Signs of heart failure (dyspnea, tachycardia, easy
fatigability, failure to thrive, diaphoresis,
hepatomegaly, edema, etc.)
• Arrhythmias
• Syncope
• Chest pain
• Hypertension
 Miscellaneous Referrals:
• Myocardial function (oncology)
• Stroke (neurology)
• ECG abnormalities
• CXR abnormalities
 Approach to Congenital Heart Disease

HEART DISEASE

CONGENITAL ACQUIRED

ACYANOTIC CYANOTIC
Approach to Congenital Heart Disease

Congenital vs. Acquired?

Approach to Congenital Heart Disease

• Congenital vs. Acquired:

– HISTORY
• Maternal and family history
• Age of onset of symptoms
– Note exceptions:
» CHD w/ late onset manifestations
» Acquired heart diseases in the young
– PHYSICAL EXAMINATION
• Chromosomal syndromes
• Cyanosis, murmur, heart failure
• Complete cardiac physical examination
Approach to Congenital Heart Disease

Cyanotic vs. Non-cyanotic?

 Cyanosis
• O2 sat < 85% --clinically apparent
• Reduced Hgb > 5 gm/dL
• Rule out other non-cardiac causes
• Central vs. peripheral cyanosis
• Hyperoxic test: 100% O2
– Check ABG after 15-20 minutes
– If pO2 > 150-200 mmHg  pulmonary
– If pO2 < 100-150 mmHg  cardiac
 Approach to Congenital Heart Disease

Aortic Valve Pulmonary valve stenosis

Stenosis Atrial septal defect
-Supravalvar AS Pulmonary ejection murmur
-Subvalvar AS (innocent)
Pulmonary flow murmur
-PA stenosis
-Aortic stenosis
-PDA, PAPVR, TAPVR

Ventricular Septal Defect

Endocardial Cushion Defect Mitral Regurgitation
Vibratory Innocent Murmur Vibratory innocent murmur
-HOCM (IHSS) MVP syndrome
-Tricuspid regurgitation Aortic stenosis
-TOF IHSS
Thank You