DISEASES OF
THE NEWBORN
Belen Amparo E. Velasco, M.D.
BIRTH INJURIES
INTRACRANIAL INJURIES
SPINAL CORD INJURIES
NERVE INJURIES
INTRACRANIAL INJURIES
Most common site of fatal and disabling injury –
intracranial cavity
Preterm – more prone to hypoxic cerebral injury –
spontaneous intraventricular hemorrhage
Term infants – more prone to subdural hemorrhages
which are traumatic in origin
INTRACRANIAL INJURIES
CLINICAL MANIFESTATIONS:
Nonspecific
Most common:
Respiratory distress
Pallor
Lethargy/somnolence with poor response to stimuli
Hypo- or hyperreflexia
Convulsions
Signs of ICP
Unequal pupils
Tachy- or bradycardia
INTRACRANIAL INJURIES
DIAGNOSIS:
Clinical history/course
Spinal taps (done in extreme caution)
Cranial ultrasount vs CT scan of the head
TREATMENT:
Minimal handling
Management of ICP – fluid restriction
Furosemide
paCO2 25-30 torr
Thermoregulation
Oxygen and ventilatory support, as warranted
Anticonvulsant for siezure
Vitamin K for coagulation defect
SPINAL CORD INJURIES
Associated with difficult delivery
Types of injury
Complete transection – permanent paralysis
Partial transection
Cord compression – transient paralysis
NERVE INJURIES
BRACHIAL PALSY
FACIAL PARALYSIS
DIAPHRAGMATIC PARALYSIS
SCIATIC NERVE INJURY
BRACHIAL PALSY
ERB-DUCHENNE PARALYSIS
Injury to the 5th-6th crevical root
Absent Moro on the affected side
KLUMPKE’S PARALYSIS
Injury to the 7th cervical and 8th thoracic root
Loss of sensory and motor fxn of hand and wrist
BRACHIAL PALSY
DIAPHRAGMATIC PARALYSIS
Injury to 4th cervical root
HORNER’S SYNDROME
Injury to the sympathetic ganglion
Characterized by ptosis, enophthalmos, miosis, and
anhydrosis of the face on the affected side
OTHER NERVE INJURIES
FACIAL PALSY
Injury to the 7th nerve
SCIATIC NERVE INJURY
CLAVICULAR FRACTURE
Associated with difficult delivery esp shoulder
dystocia
INTRAABDOMINAL INJURIES
More common in breech deliveries
Commonly ass with liver laceration and
intraabdominal bleed
INFECTIONS OF THE NEWBORN
INCIDENCE: 1-5 per 1000 livebirths
PREDISPOSING FACTORS
Prematurity
Male gender
Maternal infection
Difficult delivery
Congenital anomalies
INFECTIONS OF THE NEWBORN
ROUTES OF ENTRY
Hematogenous spread
Ascending infection
Direct contact along birth canal
Breaks in the skin
INFECTIONS OF THE NEWBORN
CHANGING SPECTRUM OF
PREDOMINANT PATHOGENS
EARLY ONSET SEPSIS
1930’s
1940’s
1950’s
1960’s
1970’s
1980’s
up to
present
Grp A Strep
E.coli
S. aureus
E.coli
Grp B Strep
Grp B Strep
E.coli
Others:E.coli,Staph
Others:Streptococci
Others:E.coli/Pseudo
Others:Pseudo/Kleb
Others:E.coli/ Listeria
LATE-ONSET SEPSIS
1970’s
1980’s
up to
Present
S. aureus
Coagulase(-)
Staph
S. aureus
Others:Grp D Strep
Others: G(-) enteric
& Streptococci
Untypable H.influenzae
LATE LATE-ONSET SEPSIS
1990’s
Candida sp.
Coagulase (-)Staph
INFECTIONS OF THE NEWBORN
EARLY-ONSET VS LATE-ONSET
VS LATE LATE-ONSET
EARLY
Onset
<4 days
Incidence 0.1-0.4%
Transmission vertical
Clinical
Sxs
Morbidity
Mortality
LATE
>4 days
5-25%
vertical/
postnatal env.
insiduous
meningitis
fulminant
pneumonia
multisystem
neurologic
prolonged
handicap
hospitalization
15-50%
10-15%
LATE-LATE
> 30 days
postnatal env.
insiduous
prolonged
hospitalization
INFECTIONS OF THE NEWBORN
DIAGNOSIS OF SEPSIS
Clinical judgment
 Recovery of the organism from a
meaningful site: Blood culture

UA vs UV specimens - The best alternative is still
blood culture from a peripheral vein
 Volume of blood – 0.5 ml should be adequate.
Larger specimens will often grow faster
 Single vs multiple blood cultures- With early onset
sepsis, a single culture would suffice. With lateonset sepsis esp with possible CONS, at least two
cultures should be obtained.

INFECTIONS OF THE NEWBORN
TREATMENT MODALITIES
AGAINST SEPSIS
METHODS GENERALLY USED:



Early Detection
Fluids, nutrition, antibiotics, ventilatory support
Catecholamines
AGENTS POSTULATED TO IMPROVE OUTCOME
OF SEPSIS:


Antiserum to endotoxin
Monoclonal antibodies to endotoxin
SPECIFIC INFECTIONS
MENINGITIS
PNEUMONIA
DIARRHEA/NEC
URINARY TRACT INFECTION
ARTHRITIS
CONJUNCTIVITIS
OTHER BACTERIAL INFECTIONS
TETANUS NEONATORUM
History of unhygienic cord practices
Clinical diagnosis characterized by TRISMUS
Prevention with tetanus immunization of the
mother
OTHER BACTERIAL INFECTIONS
CONGENITAL TUBERCULOSIS
Ghons complex in the liver
Diagnostics include:
AFB smear of gastric aspirate
Tuberculin test
Placental pathologic exam
OTHER BACTERIAL INFECTIONS
CONGENITAL SYPHILIS
May occur with other STDs
Characterized by jaundice, hepatosplenomegaly,
macular rashes with wet desquamating skin teeming
with spirochetes
VDRL for screening. Confirmatory test FTAABS
NON-BACTERIAL INFECTIONS
TORCHS
TOXOPLASMOSIS
CONGENITAL RUBELLA
CYTOMEGALOVIRUS INFECTION
HERPES SIMPLEX INFECTION
NON-BACTERIAL INFECTIONS
OTHER VIRAL INFECTIONS:
MUMPS
HEPATITIS B
AIDS
TREATMENT OF INFECTION
SPECIFIC THERAPY:
Ampicillin
Gentamicin
3rd generation Cephalosporin:
SUPPORTIVE THERAPY
Fluid resuscitation (crystalloids/colloids)
Inotropes
Nutritional support
Immunotherapy
TREATMENT OF INFECTION
SPECIFIC THERAPY:
TETANUS: Penicillin, TIG, Anticonvulsant
TUBERCULOSIS: INH, Rifampicin, PZA
SYPHILIS: Penicillin
TOXOPLASMOSIS: Spiramycin
CYTOMEGALOVIRUS INFECTION:
Ganciclovir
HERPES SIMPLEX INFECTION/VARICELLA:
Acyclovir
HIV: Zimovudine
JAUNDICE IN THE NEWBORN
BILIRUBIN METABOLISM
Heme oxygenase
biliverdin
Hemoglobin
biliverdin
reductase
C0
bilirubin
Iron
1 mole of Hgb = 1 mole each of C0 & bilirubin
Transport = bilirubin is transported to liver bound to
serum albumin
Uptake = nonpolar bilirubin (dissociated from albumin)
crosses the hepatocyte plasma membrane,
binds to cytoplasmic ligandin (Y protein) for
transport to SER
Note: Phenobarbital increases concentration of ligandin
BILIRUBIN METABOLISM
CONJUGATION
SER
Bil. Mono
UCB
UDPG-T glucuronide
(CB)
(Pb)
Bil. Diglucuronide
Bile
canaliculi
EXCRETION
CB
biliary tree
GIT
UCB
(liver)
Enterohepatic circ.
B-glucuronidase
stool
JAUNDICE

Color is due to accumulation in the skin
of unconjugated, nonpolar, lipid-soluble
bilirubin (indirect) formed from Hgb by
heme oxygenase, biliverdin reductase,
and nonenzymatic reducing agents in the
RES
RISK FACTORS FOR
HYPERBILIRUBINEMIA




History of previous sibling with
hyperbilirubinemia
Decreasing gestational age
Breastfeeding
Large weight loss after birth
CAUSES OF HYPERBILIRUBINEMIA
 Enhanced enterohepatic circulation due
to:




High levels of intestinal B-glucuronidase
 bilirubin monoglucuronide
 intestinal bacteria
 gut motility with poor evacuation of
meconium
CAUSES OF HYPERBILIRUBINEMIA
Defective uptake of bilirubin from
plasma
 ligandin
Binding of ligandin by other anions
Defective conjugation due to  UDPG-T
activity
Decreased hepatic excretion of bilirubin
PHYSIOLOGIC
HYPERBILIRUBINEMIA






Onset of jaundice beyond 24 hours of age
Rise in TSB less then 0.5 mg/dL/hour or
5mg/dl/day
Peaks at 3-5 days
Resolves in a week
Levels not rising above 12mg/dl
No associated illness
NONPHYSIOLOGIC
HYPERBILIRUBINEMIA





Onset of jaundice before 24 hours of age
Any elevation of TSB that requires
phototherapy
Rise in TSB over 0.5 mg/dL/hour
Signs of underlying illness eg. vomiting,
lethargy, poor feeding, excessive weight loss,
apnea, tachypnea, To instability
Jaundice persisting after 8 days in FT, 14 days
in PT
PATHOLOGIC CAUSES OF
HYPERBILIRUBINEMIA
 PRODUCTION
 Isoimmunizatioin: Rh, ABO, minor blood
grps
 Erythrocyte biochem. Defect: G6PD,
pyruvate kinase, hexokinase, porphyria
 Structural abnormalities of RBCs:
hereditary spherocytosis, eliptocytosis
PATHOLOGIC CAUSES OF
HYPERBILIRUBINEMIA
PRODUCTION
Infection: bacterial, viral, protozoal (mixed
jaundice)
Sequestered blood: subdural hematoma,
cephalhematoma, ecchymoses, hemangiomas
Others: IDM, obstructive jaundice,
galactosemia, hemolysis (DIC, vit K
deficiency)
PATHOLOGIC CAUSES OF
HYPERBILIRUBINEMIA
 UPTAKE
 Gilbert’s syndrome
 hypothyroidism
 galactosemia
PATHOLOGIC CAUSES OF
HYPERBILIRUBINEMIA
 CONJUGATION
 Crigler-Najjar syndromes (types I, II)
 Transient familial neonatal
hyperbilirubinemia
 Galactosemia, hypothyroidism
PATHOLOGIC CAUSES OF
HYPERBILIRUBINEMIA
 EXCRETION
 Idiopathic neonatal hepatitis
 Biliary atresia
PATHOLOGIC CAUSES OF
HYPERBILIRUBINEMIA
 ENTEROHEPATIC CIRCULATION




Breastmilk jaundice (early, late onset)
Starvation
Pyloric stenosis
Intestinal obstruction
WORK-UP FOR JAUNDICE
Total serum bilirubin, B1, B2
 Blood type, Rh, direct Coombs test of
the infant
 Blood type, Rh, antibody screen of the
mother
 Peripheral smear and reticulocyte count
 Hct

WORK-UP FOR JAUNDICE



If direct Coombs + - antibody on
infant’s RBC
G6PD
screen,
congenital
hypothyroidism,
metabolic
defects
(urine metabolic screen)
For neonatal cholestasis: Liver function
test, TORCH assay, UTZ, liver biopsy
TREATMENT OF
HYPERBILIRUBINEMIA




Phototherapy
Exchange Transfusion
Phenobarbital ?
Tin (Sn) protoporyhyrin or tin mesoporphyrin:
inhibits conversion of biliverdin to bilirubin by
heme oxgenase
Dose: single IM on D1 of life
 Complications:transient erythema

TREATMENT OF
CHOLESTASIS


Ursodeoxycholic acid 10mg/k/day
Kasai Procedure for biliary atresia
MANAGEMENT OF HYPERBILIRUBINEMIA IN
THE HEALTHY TERM NEWBORN
AGE
HOURS
CONSIDER
PHOTOTHERAPY
PHOTOTHERAPY
EXCHANGE
TRANSFUSION,
IF INTENSIVE
PHOTOTHERAPY
FAILS
EXCHANGE
TRANSFUSION &
INTENSIVE
PHOTOTHERAPY
<24
…
…
…
…
2548
4972
>12
>15
>20
>25
>15
>18
>25
>30
>72
>17
>20
>25
>30
Serum bilirubin = mg/dL
JAUNDICE IN PREMATURE
INFANTS
WEIGHT IN
GRAMS
PHOTOTHERAPY
EXCHANGE
TRANSFUSION
< 1000
gms.
Start within
24 hours
10-12
mg/dL
1000-1500
gm
7-9 mg/dL
12-15
mg/dL
2000-2500
gm
13-15 mg/dL
18-20
mg/dL
CLINICAL MANIFESTATIONS OF
KERNICTERUS





Onset of symptoms: 2-5 d (FT), 7 d (PT)
Early phase: lethargy, poor feeding, loss of
Moro reflex
Second phase: prostration, dec. DTRs,
respiratory distress
Late phase: opisthotonus, bulging fontanel.
Twitching of face & limbs, high-pitched cry
Advanced cases: convulsions, spasm, stiff
extension of arms inward rotation with fists
clenched
COMPLICATIONS OF
KERNICTERUS





Cerebral palsy
Mental retardation
Seizure disorder
Behavioral problem
Dental dysplasia
RESPIRATORY DISTURBANCES
STRIDOR
Harsh sound produced by
turbulent
flow
thru
partially
obstructed
Ass
with
upper
airway
obstruction
RESPIRATORY DISTURBANCES
STRIDOR
CAUSES OF STRIDOR
Choanal atresia
Laryngomalacia
Macroglossia
Subglottic stenosis
Neck masses
RESPIRATORY DISTURBANCES
RESPIRATORY DISTRESS SYNDROME
Basic Pathology:
Deficiency of pulmonary surfactant with
subsequent lung collapse
Immaturity of the chest wall
RESPIRATORY DISTURBANCES
RESPIRATORY DISTRESS SYNDROME
Clinical Manifestations:
Respiratory distress
Anemia
Hypotension
Oliguria
Hypotheramia
RESPIRATORY DISTURBANCES
RESPIRATORY DISTRESS SYNDROME
DIAGNOSIS:
Chest radiograph
Ground-glass appearance
Air bronchogram
Lung opacity
Arterial blood gas
RESPIRATORY DISTURBANCES
RESPIRATORY DISTRESS SYNDROME
Treatment:
Oxygen therapy
Correction of acidosis
Surfactant
Antibiotics
Treatment of associated
condition/complication
RESPIRATORY DISTURBANCES
TRANSIENT TACHYPNEA OF THE NB
Result of delayed absorption of
fetal lung fluid seen during CS
deliveries
RESPIRATORY DISTURBANCES
TRANSIENT TACHYPNEA OF THE NB
Characterized by respiratory
distress during the first two – three
days of life
RESPIRATORY DISTURBANCES
TRANSIENT TACHYPNEA OF THE NB
DIAGNOSIS:
Chest radiograph
Effusion along fissure lines
Wet lung
RESPIRATORY DISTURBANCES
TRANSIENT TACHYPNEA OF THE NB
TREATMENT
Oxygen therapy
RESPIRATORY DISTURBANCES
APNEA
CAUSES OF APNEA:
Central apnea: IVH, sedation
Obstructive apnea: RDS, pneumonia
Mxed type: Sepsis, PDA
RESPIRATORY DISTURBANCES
APNEA
TREATMENT OF APNEA:
Treat underlying cause
Physical stimulation
Positive pressure ventilation
Aminophylline?
RESPIRATORY DISTURBANCES
NEONATAL PNEUMONIA
MECONIUM ASPIRATION
CARDIOVASCULAR DISTURBANCES
CONTROL OF THE HEART RATE
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
Incidence: About 8 of every 1,000 babies in the
U.S. are born with a congenital heart defect
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
COMMON ACYANOTIC ABNORMALITIES:
Septal defect: Opening between right & left
atrium or between right & left ventricle.
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
COMMON ACYANOTIC ABNORMALITIES:
Patent ductus arteriosus: Fetal blood vessel that
usually closes soon after birth remains open with
oxygen-rich blood returning from the lungs pumped to
the lungs again, placing extra strain on the right
ventricle and on the blood vessels leading to and from
the lung.
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
COMMON CYANOTIC ABNORMALITIES:
Transposition of great arteries: exchange of
role of the aorta and pulmonary artery
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
COMMON CYANOTIC ABNORMALITIES:
Coarctation of the aorta:
a portion of the
aorta is abnormally narrow and unable to carry
sufficient blood to the body, placing extra strain on the
left ventricle with high blood pressure in the upper
body and rupture of blood vessel in the brain
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
COMMON CYANOTIC ABNORMALITIES:
Tetralogy of Fallot: a combination of four
different heart malformations allows mixing of
oxygenated and deoxygenated blood pumped by the
heart.
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
Causes of Congenital Heart Defect:
Genetic factors,
Viral infections
Exposure to certain chemicals
CARDIOVASCULAR DISTURBANCES
CONGENITAL HEART DEFECTS
Treatment: Surgical correction of the defect
Patch
made
from
pericardium
or
synthetic fabric for septal defect
Ligation of ductus arteriosus
Snipping out narrowed portion of the aorta
while sewing the normal ends togetherin
coarctation of the aorta,
Corrective procedure for each part of the
defect in Tetralogy of Fallot
Note: Success rates are well above 90 percent,
with treated children living healthy, normal lives.
CARDIOVASCULAR DISTURBANCES
SHOCK
HYPERTENSION
RHYTHM DISTURBANCES
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIES
4 Is:
Ischemia
Immaturity
Infection
Ingestion of milk
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIS
Clinical Manifestations:
Non-specific
Residual on feeding
Abdominal distention
Blood-streaked stools
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIS
Diagnosis:
Abd xray: Pneumatosis intestinalis
Fixed dilated loops
Portal vein gas
Liver UTZ: Hepatic microbubbles
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIES
Treatment:
NPO
Total Parenteral Nutrition
Gastric decompression
Antibiotics
Surgical intervention, if indicated
HEMATOLOGIC DISTURBANCES
ANEMIA
CAUSES OF ANEMIA
Hemolysis
Acute blood loss
Parenteral nutritional deficiency
HEMATOLOGIC DISTURBANCES
ANEMIA
TREATMENT OF ANEMIA
Replacement of blood loss
PRBC transfusion 10cc/k
Treatment of underlying cause
Vitamin K of HDN
Vitamin E and Iron
Erythropoietin
Specific factor repolacement for
hemophilia
HEMATOLOGIC DISTURBANCES
POLYCYTHEMIA
CAUSES OF POLYCYTHEMIA
Placental dysfunction (SGA)
Late cord clamping
Feto-fetal/Maternofetal transfusion
Adrenogenital syndrome
IDM
HEMATOLOGIC DISTURBANCES
POLYCYTHEMIA
CLINICAL SXS OF POLYCYTHEMIA
Lethargy with poor suck
Cyanosis
COMPLICATIONS
Hyperbilirubinemia
Venous thrombosis
PPHN
HEMATOLOGIC DISTURBANCES
POLYCYTHEMIA
TREATMENT OF POLYCYTHEMIA
Partial exchange transfusion
ENDOCRINE DISORDERS
INFANT OF DIABETIC MOTHER
May be asymptomatic
Symptoms of hypoglycemia:
Tremors
Apnea
Limpness
Feeding difficulty
High-pitched cry
ENDOCRINE DISORDERS
INFANT OF DIABETIC MOTHER
Associated conditions:
Hyaline membrane disease
Hypocalcemia
Polycythemia
Hyperbilirubinemia
ENDOCRINE DISORDERS
INFANT OF DIABETIC MOTHER
Associated anomalies:
Septal hypertrophy
Microcolon
ENDOCRINE DISORDERS
INFANT OF DIABETIC MOTHER
Treatment:
2cc/k D10Water
Increase GIR
Hydrocortisone
ENDOCRINE DISORDERS
CONGENITAL HYPOTHYROIDISM
Rarely obvious at birth
FLK with large anterior fontanel,
low nasal bridge, large tongue,
umbilical hernia, and constipation
May present as persistent jaundice
ENDOCRINE DISORDERS
CONGENITAL HYPOTHYROIDISM
Diagnosis:
T4 and TSH
Treatment:
levo-Thyroxine 5-10mg/k/d
ENDOCRINE DISORDERS
CONGENITAL ADRENAL HYPERPLASIA
Usually present with ambiguous
genitalia
75% may go into adrenal crisis –
salt-losing type due to 21-hydroxylase
deficiency
ENDOCRINE DISORDERS
CONGENITAL ADRENAL HYPERPLASIA
Diagnosis:
Serum cortisol, pregnanelone
Urinary 17ketosteroids
Karyotyping
Pelvic UTZ
Treatment:
Hydrocortisone