DISEASES OF THE NEWBORN

1
DISEASES OF THE NEWBORN

• Belen Amparo E. Velasco, M.D.

2
(No Transcript)
3
BIRTH INJURIES
INTRACRANIAL INJURIES SPINAL CORD
INJURIES NERVE INJURIES
4
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
5
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
6
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
7
SPINAL CORD INJURIES
Associated with difficult delivery Types of
injury Complete transection permanent
paralysis Partial transection Cord compression
transient paralysis
8
NERVE INJURIES
BRACHIAL PALSY FACIAL PARALYSIS DIAPHRAGMATIC
PARALYSIS SCIATIC NERVE INJURY
9
BRACHIAL PALSY
ERB-DUCHENNE PARALYSIS Injury to the 5th-6th
crevical root Absent Moro on the affected
side KLUMPKES PARALYSIS Injury to the 7th
cervical and 8th thoracic root Loss of sensory
and motor fxn of hand and wrist
10
BRACHIAL PALSY
DIAPHRAGMATIC PARALYSIS Injury to 4th cervical
root HORNERS SYNDROME Injury to the
sympathetic ganglion Characterized by ptosis,
enophthalmos, miosis, and anhydrosis of the face
on the affected side
11
OTHER NERVE INJURIES
FACIAL PALSY Injury to the 7th nerve SCIATIC
NERVE INJURY
12
CLAVICULAR FRACTURE
Associated with difficult delivery esp
shoulder dystocia
13
INTRAABDOMINAL INJURIES
More common in breech deliveries Commonly ass
with liver laceration and intraabdominal bleed
14
INFECTIONS OF THE NEWBORN
INCIDENCE 1-5 per 1000 livebirths PREDISPOSIN
G FACTORS Prematurity Male
gender Maternal infection Difficult
delivery Congenital anomalies
15
INFECTIONS OF THE NEWBORN
ROUTES OF ENTRY Hematogenous spread Ascending
infection Direct contact along birth
canal Breaks in the skin
16
INFECTIONS OF THE NEWBORN
CHANGING SPECTRUM OF PREDOMINANT PATHOGENS

EARLY ONSET SEPSIS 1930s Grp A Strep
OthersE.coli,Staph 1940s E.coli
OthersStreptococci 1950s S. aureus
OthersE.coli/Pseudo 1960s E.coli
OthersPseudo/Kleb 1970s Grp B Strep
OthersE.coli/ Listeria 1980s Grp B Strep up
to E.coli present
17
LATE-ONSET SEPSIS
1970s S. aureus OthersGrp D
Strep 1980s Coagulase(-) Others G(-) enteric
Staph Streptococci up to
S. aureus Untypable H.influenzae Present
LATE LATE-ONSET SEPSIS 1990s Candida
sp. Coagulase (-)Staph
18
INFECTIONS OF THE NEWBORN
EARLY-ONSET VS LATE-ONSET VS LATE LATE-ONSET

EARLY LATE
LATE-LATE Onset lt4 days gt4 days
gt 30 days Incidence 0.1-0.4 5-25
- Transmission vertical vertical/
postnatal env. postnatal env. Clinical
fulminant insiduous insiduous
Sxs pneumonia meningitis multisystem
Morbidity neurologic prolonged
prolonged handicap
hospitalization hospitalization Mortality 15-50
10-15
19
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 late-onset sepsis esp with possible CONS,
  at least two cultures should be obtained.

20
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

21
SPECIFIC INFECTIONS
MENINGITIS PNEUMONIA DIARRHEA/NEC URINARY
TRACT INFECTION ARTHRITIS CONJUNCTIVITIS
22
OTHER BACTERIAL INFECTIONS
TETANUS NEONATORUM History of unhygienic cord
practices Clinical diagnosis characterized by
TRISMUS Prevention with tetanus immunization of
the mother
23
OTHER BACTERIAL INFECTIONS
CONGENITAL TUBERCULOSIS Ghons complex in the
liver Diagnostics include AFB smear of
gastric aspirate Tuberculin test Placental
pathologic exam
24
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 FTA-ABS

25
NON-BACTERIAL INFECTIONS
TORCHS TOXOPLASMOSIS CONGENITAL
RUBELLA CYTOMEGALOVIRUS INFECTION
HERPES SIMPLEX INFECTION
26
NON-BACTERIAL INFECTIONS
OTHER VIRAL INFECTIONS MUMPS
HEPATITIS B AIDS
27
TREATMENT OF INFECTION
SPECIFIC THERAPY Ampicillin Gentamicin 3rd
generation Cephalosporin SUPPORTIVE
THERAPY Fluid resuscitation (crystalloids/colloi
ds) Inotropes Nutritional support Immunotherapy

28
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
29
JAUNDICE IN THE NEWBORN
BILIRUBIN METABOLISM
Heme oxygenase
biliverdin
biliverdin
Hemoglobin
bilirubin
reductase
C0
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
30
BILIRUBIN METABOLISM
CONJUGATION
SER
Bil. Mono glucuronide (CB)
Bil. Diglu- curonide
Bile canaliculi
UCB
UDPG-T (Pb)
EXCRETION
CB biliary tree
GIT
B-glucuronidase
UCB (liver)
stool
Enterohepatic circ.
31
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

32
RISK FACTORS FOR HYPERBILIRUBINEMIA

• History of previous sibling with
  hyperbilirubinemia
• Decreasing gestational age
• Breastfeeding
• Large weight loss after birth

33
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

34
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

35
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

36
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

37
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

38
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)

39
PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

• UPTAKE
• Gilberts syndrome
• hypothyroidism
• galactosemia

40
PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

• CONJUGATION
• Crigler-Najjar syndromes (types I, II)
• Transient familial neonatal hyperbilirubinemia
• Galactosemia, hypothyroidism

41
PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

• EXCRETION
• Idiopathic neonatal hepatitis
• Biliary atresia

42
PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

• ENTEROHEPATIC CIRCULATION
• Breastmilk jaundice (early, late onset)
• Starvation
• Pyloric stenosis
• Intestinal obstruction

43
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

44
WORK-UP FOR JAUNDICE

• If direct Coombs - antibody on infants RBC
• G6PD screen, congenital hypothyroidism, metabolic
  defects (urine metabolic screen)
• For neonatal cholestasis Liver function test,
  TORCH assay, UTZ, liver biopsy

45
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
• Complicationstransient erythema

46
TREATMENT OF CHOLESTASIS

• Ursodeoxycholic acid 10mg/k/day
• Kasai Procedure for biliary atresia

47
MANAGEMENT OF HYPERBILIRUBINEMIA IN THE HEALTHY
TERM NEWBORN
AGE HOURS CONSIDER PHOTOTHERAPY PHOTOTHERAPY EXCHANGE TRANSFUSION, IF INTENSIVE PHOTOTHERAPY FAILS EXCHANGE TRANSFUSION INTENSIVE PHOTOTHERAPY
lt24
25-48 gt12 gt15 gt20 gt25
49-72 gt15 gt18 gt25 gt30
gt72 gt17 gt20 gt25 gt30
Serum bilirubin mg/dL
48
JAUNDICE IN PREMATURE INFANTS
WEIGHT IN GRAMS PHOTOTHERAPY EXCHANGE TRANSFUSION
lt 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
49
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

50
COMPLICATIONS OF KERNICTERUS

• Cerebral palsy
• Mental retardation
• Seizure disorder
• Behavioral problem
• Dental dysplasia

51
RESPIRATORY DISTURBANCES STRIDOR Harsh sound
produced by turbulent flow thru partially
obstructed Ass with upper airway obstruction
52
RESPIRATORY DISTURBANCES STRIDOR
CAUSES OF STRIDOR Choanal atresia Laryngomalacia
Macroglossia Subglottic stenosis Neck masses
53
RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS
SYNDROME
Basic Pathology Deficiency of pulmonary
surfactant with subsequent lung
collapse Immaturity of the chest wall
54
RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS
SYNDROME
Clinical Manifestations Respiratory
distress Anemia Hypotension Oliguria Hypothera
mia
55
RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS
SYNDROME
DIAGNOSIS Chest radiograph Ground-glass
appearance Air bronchogram Lung
opacity Arterial blood gas
56
RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS
SYNDROME
Treatment Oxygen therapy Correction of
acidosis Surfactant Antibiotics Treatment of
associated condition/complication
57
RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF
THE NB
Result of delayed absorption of fetal lung fluid
seen during CS deliveries
58
RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF
THE NB
Characterized by respiratory distress during the
first two three days of life
59
RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF
THE NB
DIAGNOSIS Chest radiograph Effusion along
fissure lines Wet lung
60
RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF
THE NB
TREATMENT Oxygen therapy
61
RESPIRATORY DISTURBANCES APNEA
CAUSES OF APNEA Central apnea IVH,
sedation Obstructive apnea RDS, pneumonia
Mxed type Sepsis, PDA
62
RESPIRATORY DISTURBANCES APNEA
TREATMENT OF APNEA Treat underlying
cause Physical stimulation Positive pressure
ventilation Aminophylline?
63
RESPIRATORY DISTURBANCES
NEONATAL PNEUMONIA MECONIUM ASPIRATION
64
CARDIOVASCULAR DISTURBANCES CONTROL OF THE HEART
RATE
65
CARDIOVASCULAR DISTURBANCES CONGENITAL HEART
DEFECTS
Incidence  About 8 of every 1,000 babies in the
U.S. are born with a congenital heart defect
66
CARDIOVASCULAR DISTURBANCES CONGENITAL HEART
DEFECTS
COMMON ACYANOTIC ABNORMALITIES Septal defect
Opening between right left atrium or between
right left ventricle.
67
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.
68
CARDIOVASCULAR DISTURBANCES CONGENITAL HEART
DEFECTS
COMMON CYANOTIC ABNORMALITIES Transposition of
great arteries exchange of role of the aorta and
pulmonary artery
69
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
70
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.
71
CARDIOVASCULAR DISTURBANCES CONGENITAL HEART
DEFECTS
Causes of Congenital Heart Defect Genetic
factors, Viral infections Exposure to certain
chemicals
72
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.
73
CARDIOVASCULAR DISTURBANCES
SHOCK HYPERTENSION RHYTHM DISTURBANCES
74
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIES
4 Is Ischemia Immaturity Infection
Ingestion of milk
75
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIS
Clinical Manifestations Non-specific Residual
on feeding Abdominal distention Blood-streaked
stools
76
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIS
Diagnosis Abd xray Pneumatosis
intestinalis Fixed dilated loops Portal
vein gas Liver UTZ Hepatic microbubbles
77
GASTROINTESTINAL DISTURBANCES
NECROTISING ENTEROCOLITIES
Treatment NPO Total Parenteral
Nutrition Gastric decompression Antibiotics Sur
gical intervention, if indicated
78
HEMATOLOGIC DISTURBANCES ANEMIA
CAUSES OF ANEMIA Hemolysis Acute blood
loss Parenteral nutritional deficiency
79
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
80
HEMATOLOGIC DISTURBANCES POLYCYTHEMIA
CAUSES OF POLYCYTHEMIA Placental dysfunction
(SGA) Late cord clamping Feto-fetal/Maternofetal
transfusion Adrenogenital syndrome IDM
81
HEMATOLOGIC DISTURBANCES POLYCYTHEMIA
CLINICAL SXS OF POLYCYTHEMIA Lethargy with poor
suck Cyanosis COMPLICATIONS Hyperbilirubinemia
Venous thrombosis PPHN
82
HEMATOLOGIC DISTURBANCES POLYCYTHEMIA
TREATMENT OF POLYCYTHEMIA Partial exchange
transfusion
83
ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER
May be asymptomatic Symptoms of
hypoglycemia Tremors Apnea Limpness Feedi
ng difficulty High-pitched cry
84
ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER
Associated conditions Hyaline membrane
disease Hypocalcemia Polycythemia Hyperbilir
ubinemia
85
ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER
Associated anomalies Septal
hypertrophy Microcolon
86
ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER
Treatment 2cc/k D10Water Increase
GIR Hydrocortisone
87
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
88
ENDOCRINE DISORDERS CONGENITAL HYPOTHYROIDISM
Diagnosis T4 and TSH Treatment levo-Thyr
oxine 5-10mg/k/d
89
ENDOCRINE DISORDERS CONGENITAL ADRENAL
HYPERPLASIA
Usually present with ambiguous genitalia 75
may go into adrenal crisis salt-losing type due
to 21-hydroxylase deficiency
90
ENDOCRINE DISORDERS CONGENITAL ADRENAL
HYPERPLASIA
Diagnosis Serum cortisol, pregnanelone Urin
ary 17ketosteroids Karyotyping Pelvic
UTZ Treatment Hydrocortisone