Paediatrics Flashcards
What is neonatal jaundice
The yellowing discolouration of the skin and sclera of a neonate, which is caused by increased levels of bilirubin in the blood
What is a neonate
An infant in the first 28 days of life
What is the aetiology of neonatal physiological jaundice
- Increased bilirubin load secondary to increased RBC volume, decreased RBC lifespan, or increased enterohepatic circulation
- Decreased uptake by the liver because of decreased UDPGT activity
- Decreased exertion into bile
What is the aetiology of neonatal pathological jaundice with unconjugated hyperbilirubinaemia
- Haemolytic anaemias
- Extravasation of blood
- Polycythaemia
- Increased enterohepatic circulation
- Defective conjugation
- Metabolic conditions
- Breastfeeding
- Decreased binding of bilirubin to albumin
What is the aetiology of neonatal pathological jaundice with conjugated hyperbilirubinaemia
Hepatocellular disease:
- Metabolic or genetic defects
- Infection
- TPN
- Neonatal haemochromatosis
- Idiopathic neonatal hepatitis
- Shock
Intrahepatic biliary disease:
- Alagille syndrome
- Inspissate bile syndrome
Extrahepatic biliary disease
- Biliary atresia
- Choledochal cyst
- Bile duct stenosis
- Cholelithiasis
What is the pathophysiology of neonatal jaundice
When the normal process of bilirubin formation and excretion is dirupted, hyperbilirubinaemia results
What is physiological vs pathological neonatal jaundice
Physiological:
- Usually noted at postnatal day 2, peaks on days 3 to 5 and then decreases
- Serum bilirubin levels up to 205.2 micro mol/l are considered physiological in term neonates
Pathological:
- Any jaundice in the first 24hrs of life
- Bilirubin levels exceeding 95th percentile, as defined by a nomogram, are pathological
What is the epidemiology of neonatal jaundice
Jaundice is the most common condition in newborns that requires medical attention.
Around 50-70% of term babies and 80% of preterm babies develop jaundice in the first week of life.
Jaundice usually appears 2-4 days after birth and resolves 1-2 weeks later without the need for treatment
The risk of neonatal hyperbilirubinaemia is higher in males and increases progressibely with decreasing gestational age
What are the signs and symptoms of neonatal jaundice
Yellowing discolouration of the skin and sclera
Cephalocaudal progression (first appears in the face, progresses down body as total serum bilirubin rises)
Fatigue
Not want to feed or not feed as well as usual
Dark yellow pee
Pale stool
What are the risk factors for neonatal jaundice
Asian American-indian Maternal diabetes Low birth weight Decreased gestational age Decreased caloric intake and weight loss Breastfeeding
How is suspected neonatal jaundice investigated
Transcutaneious bilirubinometer Total serum bilirubin Direct Coombs' test Direct serum bilirubin Haematocrit FBC Reticulocyte count Peripheral blood smear Blood groups
Consider also:
- G6PDH screen
- osmotic fragility test
- blood culture
- LFTs
- urine for reducing substances
- plasma amino acids
- urine organic acids
- urine culture
- abdominal ultrasound
- percutaneous liver biopsy
What is an infant
Child under 1 year old
What is a newborn
Child under 28 days of age
What is the perinatal period
22nd week of gestation to 7 days after birth
What is the post partum period
first 6 to 8 weeks after birth
What is a live birth
Post natal presence of vital signs eg respiration, pulse, umbilical cord pulse
What are the types of term birth
All live births between 37-42 weeks gestation
Early term: 37+0 - 38+6
Full term: 39+0 - 40+6
Late term: 41+0 - 41+6
What are the evaluation categories for birth weight
Appropriate for gestational age: 10th-90th percentile for gestational age
Small for gestational age: <10th percentile for gestational age
Large for gestational age: >90th percentile for gestational age
Low birth weight: <2500g regardless of gestational age
How is a newborn immediately cared for when born
Wipe the newborn’s mouth and nose to clear airway secretions, use suction only if necessary.
Dry and stimulate the newborn.
Provide warmth.
Skin-to-skin contact with mother and initiation of breastfeeding
Clamp and cut the umbilical cord.
Apgar score assessment at 1 and 5 minutes after birth
Begin resuscitation if onset of respirations has not yet occurred within 30–60 seconds
What is the APGAR score
Appearance Pulse Grimace Activity Respirations
Used for standardised clinical assessment at 1 and 5 minutes after birth
Each of the five components can be given between 0 and 2 points depending on the status of the newborn
The total Apgar score is the sum of all five components
Reassuring: 7-10
Moderately abnormal: 4-6
Low: 0-3
In infants with a score below 7, the Apgar assessment is performed at 5 minute intervals for an additional 20 minutes
Persistently low Apgar scores are associated with long-term neurologic sequelae
What factors can determine a delivery as high risk and therefore needing the neonatal resus team available
Maternal factors:
- Extremes of maternal age
- Diabetes
- Hypertension
- Substance abuse
- Previous foetal loss
Foetal factors:
- Prematurity
- Postmaturity
- Congential anomalies
- Multiple gestations
Complications of pregnancy and delivery:
- Placental anomalies
- Oligohydraminos/ polyhydraminos
- Transverse/breech delivery
- Chorioamnionitis
- Meconium-stained amniotic fluid
- Abnormal foetal heart rate
- Delivery with forceps/vacuum/Caesarean
What are the neonatal resuscitation steps
Preductal pulse oximetry
Positive pressure ventilation (bag mask valve) at a rae of 40-60 per minute
- Indicated in inadequated resp effort (gasping, apnea) or a heart rate <100
- Intubation if pressure ventilation is ineffective or compressions are required
- Restrictive use of supplementary oxygen, guided by pulse oximetry
- At birth ventilation should be with room air for infants ≥35weeks
- Premature infants <35weeks can receive FiO2 21-30% initally, titrated to SpO2
Chest compressions
- Indicated if Heart rate <60bpm despite adequate ventilation for 30 seconds
- Use the two thumb encircling hands technique if two health cae providers present
- Use the two finger technique if only one health care provider is present
- 3 chest compressions followed by 1 inflation
Iv epinephrine if HR <60bpm despite adequate ventilation and chest compressions for at least 30-60 seconds
If there is no evidence of return of spontaneous circulation within 20mins, consider termination of resuscitation
What are the preventive measures which can be given directly after birth
Ophthalmic antibiotics: to prevent gonoccal conjunctivitis (erythromycin ophthalmic ointment)
Vitamin K: to prevent Vit K deficiency bleeding of the newborn
What is neonatal polycythemia
Venous Haematocrit (HCT) greatly exceeding normal values for gestational and postnatal age
How common is neonatal polycythemia
1-5% of newborns
What are the risk factors for neonatal polycythemia
Small for gestational age Large for gestational age Infants of diabetic mothers Twin to twin transfusion syndrome (recipient) Maternal tobacco use Chromosomal abnormalities Delayed umbilical cord clamping
What is the pathophysiology of neonatal polycythemia
Delayed umbilical cord clamping → erythrocyte transfusion → ↑ circulating red blood mass (HCT)
Placental insufficiency or chronic intrauterine hypoxia → increased intrauterine erythropoiesis → ↑ circulating red blood mass (HCT)
What are the clinical features of neonatal polycythemia
Respiratory distress, cyanosis, apnea Poor feeding, vomiting Hypoglycemia Plethora Lethargy and irritability Tremors or seizures
How is neonatal polycythemia diagnosed
Venous HCT > 65%
Hemoglobin > 22 g/dL
How is neonatal polycythemia treated
Monitoring
IV hydration
Partial exchange transfusion: a procedure in which part of the blood is replaced with an isotonic fluid to lower the hematocrit
-Indicated in asymptomatic patients with high hematocrit (> 75%) or symptomatic patients with hematocrit > 65%
-Increased risk of necrotising enterocolitis
What are the potential complications of neonatal polycythemia
Hypoglycaemia
Hyperbilirubinaemia
Necrotising enterocolitis
What is erythema toxicum neonatorum
A benign self limiting rash that appears within the first week of life
What are the clinical features of erythema toxicum neonatorum
Small red macules and papules that progress to pustules with surrounding erythema
Located on trunk and proximal extremities
Spares the palms of hands and soles of feet
How is erythema toxicum neonatorum diagnosed
Based on clinical appearance of rash
Biopsy or smear of pustual (rarely necessary) but would show high eosinophils
How is erythema toxicum neonatorum treated
Observation only
What is the prognosis of erythema toxicum neonatorum
Typically resolves without complications within 7-14 days
What is a congenital dermal melanocytosis
AKA Mongolian spot
A benign blue-ray pigmented lesion of newborns
What is the neonatal prevalence of congenital dermal melanocytosis
Asian and Native American: 85–100%
African American: > 60%
Hispanic: 46–70%
White: < 10%
What is the pathophysiology of congenital dermal melanocytosis
Melanocytes migrating from the neural crest to the epidermis during development become entrapped in the dermis
What are the clinical features of congenital dermal melanocytosis
Blue-gray pigmented macule (may also be green or brown)
Diameter: typically < 5 cm, may be > 10 cm
Location: most common on the back, also seen on the buttocks, flanks, and shoulders
How is congenital dermal melanocytosis diagnosed
Based on clinical appearance
It is important to document the diagnosis of Mongolian spots, as they may resemble bruises and lead to false suspicions of child abuse.
What is the prognosis of congenital dermal melanocytosis
Usually resolves spontaneously during childhood (typically by the age of 10 years)
How does a congenital melanocytic nevus clinically present
Vary in size: < 1.5 cm to > 20 cm A nevus larger than 20 cm in size is referred to as a giant congenital melanocytic nevus Light to darkly pigmented lesion Often with increased hair growth 1/20,000 births
How is congential melanocytic nevus treated
Surgical excision or laser ablation (depending on type and size of lesion)
What is the prognosis for a congential melanocytic nevus
Large nevi are at risk of degeneration for need frequent follow up
What is an infantile hemangioma
AKA strawberry hemangioma
Occurs in 3-10% of infants
Mostly affects girls
Manifests during the first few days to months of life
Progressive presentation: blanching of skin → fine telangiectasias → red painless papule or macule (strawberry appearance)
Most commonly on head and neck
Usually solitary lesions
What is the pathophysiology of an infantile hemangioma
Abnormal development of vascular endothelial cells
Rapid proliferation followed by subsequent spontaneous slow involution (occurring at the age of 5–8 years)
How is infantile hemangioma diagnosed
Based on clinical findings
The differential diagnosis of a cherry angioma is found mostly in adults
How is infantile hemangioma treated
Active nonintervention: (monitoring, parental education)
Systemic therapy with propranolol in complicated cases:
- Rapidly growing cutaneous hemangiomas
- Periorbital hemangioma: vascular anomaly in the periorbital region, most commonly the upper eyelid
- Hemangiomas in the airways, gastrointestinal tract, or liver
- Hemangiomas with high risk of complications
If unresponsive to medication:
- Cryotherapy
- Laser therapy
- Resection if necessary
What are potential complications of an infantile hemangioma
Ulceration
Disfigurement
What is the prognosis for infantile hemangioma
Usually good prognosis
Spontaneous resolution is common
Visual impairment if periorbital hemangioma is left untreated
What is milia neonatorum
Definition: tiny epidermal papules caused by the buildup of keratin and sebaceous secretions
Clinical features: pinhead-sized lesions located on the face/trunk
Treatment: not necessary
Prognosis: benign skin lesion, spontaneous resolution without scarring
What are capillary malformations
Naevus flammeus, port-wine stain, firemark
Definition: congenital, benign vascular malformations of the small vessels in the dermis
Epidemiology: may occur in association with a neurocutaneous disorder such as Sturge-Weber syndrome
Clinical features: typically unilateral, blanchable, pink-red patches that grow and become thicker and darker with age
Treatment: cosmetic laser treatment if desired (not necessary)
Prognosis: benign skin lesion
What is transient neonatal pustular melanosis
AKA TNPM
Definition: a benign, transient, idiopathic neonatal skin condition
Epidemiology:
- Incidence: ∼ 2%
- Most commonly occurs in African American infants (5 %)
Clinical features:
- Solitary or clustered pustules and vesicles on a nonerythematous base
- Hyperpigmented, erythematous macules and collarettes of fine scale
- Most commonly affects the forehead, anterior neck, and lower back
Treatment: reassurance
Prognosis: benign, self-limiting skin lesion
What is nevus anemicus
Definition: a pale patch of skin that does not create erythema in response to trauma, heat, or cold
Etiology: caused by a vascular anomaly (increased sensitivity of cutaneous blood vessels to naturally occurring catecholamines)
Treatment: not required
What is LEOPARD syndrome
AKA Noonan syndrom with multiple lentigines
Lentigines: lenticular hyperpigmentation (dark macules)
Electrocardiographic conduction abnormalities
Ocular hypertelorism
Pulmonary stenosis
Abnormalities of genitalia
Retardation of growth
Deafness
What is blueberry muffin syndrome
A descriptive term for neonates born with multiple bluish, purple marks in the skin, which can be due to extramedullary erythropoiesis, purpura, or metastases.
The differential includes various cancers (e.g., rhabdomyoscarcoma), blood disorders (e.g., hemolytic disease of the new born), and congenital viral infections (e.g., rubella)
What are the risk factors for birth trauma
Macrosomia or anatomical abnormalities Extremely premature infants; low birth weight Abnormal fetal presentation Breech presentation Shoulder dystocia Forceps-assisted delivery or vacuum delivery Prolonged or rapid labor Small maternal stature
What are the potential neonatal soft tissue injuries
Soft tissue injuries of the scalp in infants are mostly caused by shearing forces during vacuum or forceps delivery.
Head molding:
- Transient deformation of the head into an elongated shape due to external compression of the fetal head as it passes through the birth canal during labor
- Typically resolves within a few days after the birth
Caput succedaneum:
- Benign oedema of the scalp tissue that extends across the cranial suture lines
- Firm swelling; pits if gentle pressure is applied
- No treatment required; resolves within hours or days
Cephalohematoma:
- Subperiosteal hematoma that is limited to cranial suture lines
- Complications: calcification of the hematoma, secondary infection
- No treatment required; resolves within several weeks or months
Subgaleal hemorrhage:
- Rupture of the emissary veins and bleeding between the periosteum of the skull and the aponeurosis that may extend across the suture lines
- Associated with a high risk of significant hemorrhage and hemorrhagic shock
How does a birth related clavicle fracture present clinically
Epidemiology: most common fracture during birth (∼ 2% of deliveries)
Clinical features: Usually asymptomatic Possible pseudoparalysis Bone irregularities, crepitus, and tenderness over the clavicle possible on palpation Possible brachial plexus palsy
How is a birth related clavicle fracture diagnosed
Clinical diagnosis
X-ray only indicated in cases of gross bone deformation
How is a birth related clavicle fracture treated
Reassurance and promote gentle handling of the arm (e.g., while dressing)
To avoid discomfort, pin shirt sleeve to the front of the shirt with the arm flexed at 90 degrees
Consider analgesics
Follow-up 2 weeks later to confirm proper healing: via clinical findings of a callus formation, and possibly an x-ray
Usually self-resolves within 2–3 weeks without surgical intervention or long-term complications
What is infant torticollis
Twisted or rotated neck caused by contraction of the sternocleidomastoid muscle
It can be acquired or congenital
What is the pathomechanism of infant torticollis
Acquired torticollis:
- Sternocleidomastoid or trapezius muscle injury
- Cervical muscle spasm
- Cervical nerve irritation
Congenital torticollis:
- Not fully understood; likely from muscular or skeletal injury during delivery with subsequent fibrosis and contracture of the sternocleidomastoid muscle
- Associated with:
- Intrauterine constraint, which causes unilateral shortening of the sternocleidomastoid muscle
- – Oligohydramnios
- – Multiple gestation
- – Macrosomia
- Decreased fetal movement
- Breech presentation
- Assisted vaginal delivery
What are the clinical features of infant torticolis
Head noticeably tilted to one side with the chin rotated towards the opposite side
Muscular tightness; limited passive range of motion
Potentially palpable thickening of the SCM
Conditions associated with congenital torticollis:
- Developmental dysplasia of the hips
- Brachial plexus palsy
- Clubfoot
- Craniofacial asymmetry
What are the differentials for infant torticollis
Postural preference Vertebral anomalies Absence of cervical musculature Ocular anomalies Underlying conditions (e.g. spina bifida)
How is infant torticollis treated
Early initiation of physiotherapy, passive positioning
Surgery at 12 months of age if conservative management is insufficient: myotomy or bipolar release of the affected SCM
What are the potential complications of infant torticollis
Craniofacial asymmetry
Scoliosis of the cervical spine
What are the important facts about facial nerve palsy due to birth trauma
Epidemiology: most common cranial nerve injury during birth
Pathomechanism:
- Injury occurs during forceps-assisted delivery (most common)
- Prolonged birth in which the head is pressed against the maternal sacral promontory
Clinical features
Peripheral facial nerve palsy: difficulty feeding, incomplete eye closure, absent nasolabial fold
Treatment: eye care with artificial tears and ointment
Prognosis: spontaneous recovery in 90% of cases within several weeks
What are the important facts about neonatal brachial plexus palsy due to birth trauma
Excessive lateral traction on the neck during delivery → injury to the upper trunk of the brachial plexus → Erb palsy (most common iatrogenic brachial plexus injury during delivery)
Excessive traction on the arm during delivery → injury to the lower trunk of the brachial plexus → Klumpke palsy
Prognosis: approx. 25% of affected infants experience persistent functional impairment
What is Shoulder dystocia
An obstetric emergency in which the anterior shoulder of the fetus becomes impacted behind the maternal pubic symphysis during vaginal delivery
Occurs in ~0.2-3% of births
What are the risk factors for shoulder dystocia
History of shoulder dystocia Fetal macrosomia Prolonged second stage of labor Maternal diabetes mellitus Maternal obesity
What are the clinical features of shoulder dystocia
Features of arrested active phase of labor
Turtle sign: the fetal head is partially delivered but retracts against the perineum
Failed restitution of the head
How is shoulder dystocia diagnosed
Clinical diagnosis
How is shoulder dystocia treated
The patient should stop bearing down and lie supine with the buttocks on the edge of the bed.
Perform shoulder dystocia maneuvers:
- First-line: McRoberts maneuver
- Any of the other internal maneuvers may be attempted to next (Rubin maneuver, Woods maneuver, Delivery of posterior arm)
- Move to another maneuver if delivery is not accomplished within 20–30 seconds.
- If all above maneuvers fail, attempt the all fours position.
Last-resort options:
- Fracture of fetal clavicle
- Zavanelli maneuver
- Symphysiotomy
What are the potential complications of shoulder dystocia
Fetal:
- Brachial plexus injury (Erb palsy is more common than Klumpke palsy)
- Clavicle or humerus fracture
- Hypoxia over an extended period of time as a result of umbilical cord compression
Maternal:
- Perineal lacerations
- Postpartum hemorrhage
What is chorioamnionitis
An intrauterine infection of the foetal membranes, placenta and amniotic fluid most commonly caused by bacteria ascending from the vagina
What is the aetiology of chorioamnionitis
Common bacteria:
- Ureaplasma urealyticum (up to 50% of cases)
- Mycoplasma hominis (up to 30% of cases)
- Gardnerella vaginalis
- Bacteroides
- Group B streptococcus
- E. coli
What are the risk factors for chorioamnionitis
Prolonged labor or premature rupture of membranes (PROM)
Pathological bacterial colonization of vaginal tract (e.g., STDs, frequent UTIs)
Iatrogenic: multiple digital vaginal exams, invasive procedures (e.g., amniocentesis)
What are the clinical features of chorioamnionitis
Maternal:
- Fever (> 38 °C or > 100°F)
- Tachycardia > 120/min
- Uterine tenderness, pelvic pain
- Malodorous and purulent amniotic fluid, vaginal discharge
- Premature contractions, PROM
Fetal tachycardia > 160/min in cardiotocography
How is chorioamnionitis diagnosed
Chorioamnionitis is a clinical diagnosis (fever plus ≥ 1 additional symptom).
Tests support or confirm diagnosis if the clinical presentation is ambiguous (e.g., in subclinical chorioamnionitis).
Maternal blood tests:
- Leukocytosis > 15,000 cells/μL (∼ 70–90% of cases)
- ↑ CRP
Bacterial cultures:
- Urogenital secretions
- Amniotic fluid (most reliable, but rarely conducted)
- Group B Streptococcus screening: cervicovaginal and rectal swabs
How is chorioamnionitis managed
Maternal antibiotic therapy:
- Vaginal delivery: IV ampicillin plus gentamicin (broad coverage)
- Cesarean delivery: IV ampicillin and gentamicin, plus clindamycin (anaerobe coverage to minimize postcesarean complications, e.g., endometritis)
Delivery:
- Swift delivery is generally indicated to minimize both maternal and fetal complications.
- Cesarean delivery is not generally indicated, but is often necessary because of obstetrical complications (e.g., insufficient contractions).
What are the potential complications of chorioamnionitis
Maternal:
- Uterine atony
- Postpartum hemorrhage
- Endometritis
- Septic shock
- DIC
- Venous thrombosis
- Pulmonary embolism
- Death
Fetal/neonatal:
- Fetal deat
- Premature birth
- Asphyxia
- Intraventricular hemorrhage
- Cerebral palsy
- Neonatal infection
What are the two types of neonatal infection/sepsis and their causes
Early-onset infection/sepsis:
- ≤ 6 days after delivery
- Common causes:
- -chorioamnionitis
- -bacterial colonization of the maternal genital tract (pathogen transfer to the infant)
- Common pathogens:
- -group B Streptococcus (GBS, Streptococcus agalactiae) and E. coli;
- -less common are Listeria monocytogenes, Staphylococcus aureus, Enterococcus, and Haemophilus influenzae.
Late-onset infection/sepsis:
- 7–89 days after delivery
- Common causes: hospital acquired infection
- Common pathogens: group B Streptococcus (GBS, Streptococcus agalactiae) and E. coli; less common are coagulase-negative Staphylococcus, Staphylococcus aureus, Klebsiella, Pseudomonas
What are the risk factors for neonatal infection/sepsis
Maternal:
- Fever
- PROM, premature labor
- Infections (e.g., UTI)
Fetal:
- Premature birth, low birth weight, low Apgar score
- Difficult delivery
- Asphyxia
- Intravascular catheter or nasal cannula (in late-onset sepsis)
What are the symptoms of neonatal infection/sepsis
General presentation:
- Nonspecific
- Irritability, lethargy, poor feeding
- Temperature changes (fever and hypothermia both possible)
- Cardiocirculatory: tachycardia, hypotension, poor perfusion, and delayed capillary refill > 3 sec
- Respiratory: tachypnea, dyspnea (e.g., expiratory grunting), apnea (more common in preterm infants)
- Skin tone: jaundiced and/or bluish-gray (indicates poor perfusion)
Specific symptoms:
- Neonatal meningitis
- Often no signs of meningism
- Early phase: general symptoms, vomiting
- Late phase: bulging fontanelles, shrill crying, seizures, stupor
- Neonatal pneumonia
- Tachypnea with intercostal/sternal retractions and nasal flaring
- Reduced oxygen saturation with cyanosis
How is neonatal infection/sepsis diagnosed
Blood cultures or urine culture for suspected UTI
-In GBS sepsis: blood agar plate reveals β-hemolytic, gram-positive cocci that enlarge the area of hemolysis formed by S. aureus
Blood tests:
- Leukocytopenia or leukocytosis, thrombocytopenia
- ↑ CRP
Lumbar puncture:
-Test cerebrospinal fluid for possible meningitis
Chest x-ray:
-May reveal clear signs of pneumonia (e.g., segmental infiltrates) but more often nonspecific with diffuse opacities
How is neonatal infection/sepsis managed
Supportive care (cardiopulmonary monitoring and support)
Broad-spectrum antibiotics: IV ampicillin and gentamicin
-Indications: clinical suspicion, confirmed or suspected maternal infection (e.g., chorioamnionitis)
Adapt therapy according to antibiogram results
What is the prophylaxis regime for GBS infection
Indication:
- Maternal GBS colonization
- Determined via culture of vaginal and rectal swabs
- Indicated between 36 0/7 – 37 6/7 weeks’ gestation
- Anytime GBS bacteriuria occurs during pregnancy or if a previous newborn had a GBS infection
- The presence of risk factors (e.g., chorioamnionitis, fever, ↑ CRP, premature contractions, PROM)
Medication:
- Intrapartum IV penicillin G or ampicillin (readminister every 4 hours until delivery)
- If previous mild penicillin reaction: IV cefazolin
- If severe penicillin allergy: clindamycin
What is the prognosis of neonatal infection/sepsis
May cause septic shock within hours if treatment is inadequate (mortality rate up to 50%)
The longer symptoms are present, the higher the risk of developing meningitis.
What is omphalitis
Bacterial infection of the umbilical stump occurring 3–9 days after delivery
What pathogens cause omphalitis
Staphylococcus aureus
Group A Streptococcus
E. coli
Klebsiella pneumoniae
Clostridium tetani: common cause of omphalitis and neonatal tetanus in developing countries
What are the symptoms of omphalitis
Periumbilical redness, tenderness, swelling, and hardening
Purulent discharge
Signs of systemic infection
How is omphalitis diagnosed
Generally a clinical diagnosis, although cultures should be conducted
Bacterial cultures: pathogen identification and antibiogram (sample of discharge)
In systemic infection: blood and cerebrospinal fluid cultures (detection of sepsis and meningitis)
How is omphaliitis managed
Broad-spectrum IV antibiotics: antistaphylococcal penicillin (e.g., oxacillin) PLUS aminoglycoside (e.g., gentamicin)
Surgery: complete debridement if complications arise
What are the complications of omphalitis
Sepsis
Necrotizing fasciitis and myonecrosis (infectious muscle involvement): rare; associated with high mortality rates
How is omphalitis presented
Keep the navel dry (frequent diaper change)
Observe general hygiene measures
What is neonatal respiratory distress syndrome
AKA surfactant deficiency disorder
A lung disorder in infants that is caused by a deficiency of pulmonary surfactant
What is the aetiology of neonatal respiratory distress syndrome
It is caused by impaired synthesis and secretion of surfactant
What are the risk factors for neonatal respiratory distress syndrome
- Premature birth
- Maternal diabetes (leading to increased fetal insulin, which inhibits surfactant synthesis)
- Hereditary
- C section delivery (results in lower levels of fetal glucocorticoids than in vaginal delivery, in whiich higher levels are released as a response to stress from uterine contractions)
- Hydrops fettles
- Multiple pregnancies
- Male sex
What is the epidemiology of neonatal respiratory distress syndrome
Incidence:
- 1% of all newborns
- 10% of all preterm babies
The risk of developing NRDS depends on gestational age:
- < 28 weeks of gestation: > 50%
- > 37 weeks of gestation: < 5%
What is the pathophysiology of NRDS
Pulmonary surfactant is a mixture of phospholipids and proteins produced by lamellar bodies of type II alveolar cells.
These phospholipids reduce alveolar surface tension, preventing the alveoli from collapsing.
Surfactant deficiency is most likely to occur in preterm infants, because:
- Surfactant production begins at approximately 20 weeks gestation.
- Distribution throughout the lungs begins at 28-32 weeks’ gestation and does not reach sufficient concentration until 35 weeks gestation.
Surfactant deficiency → little or no reduction of alveolar surface tension → increased alveolar collapse → atelectasis → decreased lung compliance and functional residual capacity → hypoxemia and hypercapnia
Hypoxemia and hypercapnia → vasoconstriction of the pulmonary vessels (hypoxic vasoconstriction) and respiratory acidosis → intrapulmonary right-to-left shunt → increased permeability due to alveolar epithelial damage → fibrinous exudation within the alveoli → development of hyaline membranes in the lungs (hyaline membrane disease)
What are the clinical features of NRDS
- Maternal history of premature birth
- Onset of symptoms is usually immediately after birth but can occur up to 72 hours postpartum
- Signs of increased respiratory effort:
- Tachypnea
- Nasal flaring
- moderate to severe subcostal/intercostal and jugular retractions
- Characteristic expiratory grunting
- Decreased breath sounds on auscultation
- Cyanosis due to pulmonary hypoxic vasoconstriction
How is NRDS diagnosed
Physical exam
Maternal history
X ray chest:
- Interstitial pulmonary oedema with perihilar streaking
- Diffuse, fine, reticulogranular (ground-glass) densities with low lung volumes and air bronchograms
- Atelectasis
Blood gas analysis:
- Hypoxia with respiratory acidosis may lead to increased lactate levels
- Evaluate for partial respiratory failure or global respiratory failure
Amniocentesis for prenatal testing of NRDS:
- screening for markers of fetal lung immaturity
- Lecithin-sphingomyelin ratio <1.5 (≥ 2 is considered mature)
- Foam stability index <0.48
- Low surfactant-albumin ratio
Histological findings:
- Hyaline membranes lining the alveoli
- Composed of fibrin, cellular debris and red blood cells
- Eosinophilic appearance, amorphous material lining the alveolar surface
- Engorged and congested capillary vessels in the interstitium
What are the differentials for NRDS
Pulmonary hypoplasia
Congenital diaphragmatic hernia
Pneumothorax
Neonatal pneumonia
WHat is pulmonary hypoplasia
Underdevelopment of the lungs characterised by a decreased number of alveoli and small airways and reduced lung volumes in on eor both lobes
Results in impaired gas exchange and severe respiratory distress that may require intubation
Associated with congenital diaphragmatic hernia (usually left-sided), oligohydramnios, and Potter sequence
How is NRDS treated
Ventilation:
- Nasal CPAP with a PEEP of 3–8 cm H2O
- If respiratory insufficiency persists, start intubation with mechanical ventilation and O2 inhalation.
Endotracheal administration of artificial surfactant within 2 hours postpartum
Supportive measures: IV fluid replacement; stabilization of blood sugar levels and electrolytes
What is physiological O2 saturation in neonates
Around 90%
A saturation 100% is considered toxic for neonates
What are the potential complications of NRDS
- Bronchopulmonary dysplasia
- Pneumothorax
- Hypoxia
- Patent ductus arteriosus (the persistently low partial pressure of oxygen in the blood contributes to PDA)
- Cardiovascular arrest
- Neonatal sepsis
Complications of O2 inhalation: -Retinopathy of prematurity -Bronchopulmonary dysplasia -Intraventricular hemorrhage (Baby Oxen have RIBs)
What is the prognosis of NRDS
Mortality rate <10%
Most cases resolve within 3-5 days if treated promptly
How is NRDS prevented
Prevent premature birth where possible (use of tocolysis to slow down)
Antenatal corticosteroid therapy administered to the mother to stimulate infant lung maturation:
-48 hours before delivery
-2 doses of IM betamethasone 24 hours apart or 4 doses of IM dexamethasone 12 hours apart
What is a teratogen
An environmental factor that causes a permanent structual or functional abnormality, growth restriction or death of the embryo or foetus
How can the physical effects of teratogens characteritically present
VACTERL association: Vertebral, Anal, Cardiac, Tracheoesophageal fistula, Renal, and Limb abnormalities - All due to a defect during the development of embryonic mesoderm
What are the types of limb deformities due to teratogens
Syndactyly: fusion of two or more fingers or toes (most common congenital malformation of the limbs)
Polymelia/polydactyly: supernumerary limbs, fingers, or toes
Oligodactyly, adactyly: absence of one or more of the fingers or toes
Ectromelia: collective term for hypoplasia and/or aplasia of one or more long bones, resulting in limb deformity
Peromelia/perodactyly: amputation-like stump of a limb, finger, or toe
What is the pathophysiology of diabetic embryopathy
In first trimester
Hyperglycemia → inhibition of myoinositol uptake → abnormalities in the arachidonic acid-prostaglandin pathway → birth defects and spontaneous abortion
What are the effects of diabetic embryology
Congenital heart disease:
- transposition of the great vessels,
- ventricular septal defect,
- truncus arteriosus,
- tricuspid atresia,
- patent ductus arteriosus,
- dextrocardia
Neural tube defects
Caudal regression syndrome:
- Definition: rare structural anomaly of the caudal region
- Clinical features:
- Mild to severe motor function impairment, paralysis, and/or bladder incontinence
- Anorectal malformations and sacral agenesis (aplasia or hypoplasia of the sacrum and/or lumbosacral spine)
- Lower limb or foot deformities are common.
- Prognosis: severe disease in the neonatal period that often results in infant death secondary to cardiac and renal complications
Duodenal atresia
Small left colon syndrome: self-limiting inability to pass meconium
Vertebral anomalies
Cleft palate
Flexion contracture of the limbs
Renal agenesis
What is the pathophysiology of diabetic fetopathy
In the second and third trimester
Chronic fetal hyperglycemia → fetal hyperinsulinemia, islet cell hyperplasia, ↑ insulin-like growth factor, and ↑ growth hormones → ↑ metabolic effects and oxygen demand → fetal hypoxemia
What are the effects of diabetic fetopathy
Macrosomia (increased risk of birth injuries)
Polycythemia (associated with an increased risk of hyperviscosity syndrome and hyperbilirubinemia)
Neonatal hypoglycemia
Electrolyte imbalances (hypocalcemia, hypomagnesemia)
Respiratory distress (due to insufficient production of pulmonary surfactant)
Hypertrophic cardiomyopathy (polycythemia → redistribution of iron → iron deficiency in cardiac tissue and hypoxemia → impaired cardiac remodeling)
Polyhydramnios (fetal hyperglycemia → fetal polyuria)
What can be the consequence of maternal graves disease
Neonatal thyrotoxicosis Microcephaly Frontal bossing and triangular facies Craniosynostosis Developmental and behavioral problems
What can be the consequence of maternal hypothyroidism
Congenital hypothyroidism with a possible congenital iodine deficiency syndrome
What can be the consequence of maternal obesity in pregnancy
Neural tube defects
Cleft lip and cleft palate
Congenital heart disease
Limb reduction abnormalities
What can be the consequence of phenylketonuria
IUGR
Microcephaly
Intellectual disability
Congenital heart disease
What is the epidemiology of fetal alcohol syndrome
Most common cause of teratogenic damage in children (0.2–1.5 per 1,000 live births) [10]
Most common preventable cause of intellectual disability in the US
What is the pathophysiology of fetal alcohol syndrome
Failed neuronal and glial cell migration
What are the clinical features of fetal alcohol syndrome
Dysmorphic features:
- Thin upper lip
- Smooth hypoplastic philtrum (the vertical groove between the middle of the upper lip and the nose)
- Down-slanting, short palpebral fissures (the opening between the upper and lower eyelid, defined as the elliptical space between the medial and lateral canthi of the open eye)
- Hypertelorism
- Microcephaly
- Epicanthal folds
- Receding chin
Features of specific systemic defects:
- Heart defects (mainly ventricular septal defect)
- Heart-lung fistulas
- Skeletal anomalies (limb dislocations, joint contractures, pectus excavatum/pectus carinatum)
- Renal anomalies (aplastic/dysplastic kidneys) leading to hypertension
- Prenatal or postnatal growth retardation → short stature
- Holoprosencephaly: a developmental field defect, in which the forebrain fails to divide into two hemispheres resulting in fusion of ventricles (leading to the formation of monoventricle) and other bilateral cerebral structures, e.g., basal ganglia
- Typically occurring during the 3rd–4th week of pregnancy
- Potential genetic causes include:
- – Mutations in SHH gene coding for sonic hedgehog protein
- – Trisomy 13
- Associated clinical features:
- – Craniofacial abnormalities (cyclopia and/or cleft lip/palate)
- – Endocrine disorders related to pituitary dysfunction (e.g., diabetes insipidus)
- – Seizures and epilepsy
Hyperactivity, intellectual disability (e.g., impaired language development, learning disabilities, memory deficits), and subsequent problems in social interactions and school performance
What are potential differentials for fetal alcohol syndrome
Down syndrome
Fragile-X syndrome
Williams syndrome
What is the pathophysiology of smoking cigarettes during pregnancy
Nicotine:
↑ catecholamine release → vasoconstriction of uteroplacental blood vessels → compromised blood flow and oxygen delivery to the fetus
Carbon monoxide:
↑ COHb causes tissue hypoxia
What are the effects of cigarette smoking in pregnancy
Intrauterine growth restriction and low birth weight
Increased risk of preterm labor and miscarriage (e.g., due to placental abnormalities such as placental abruption)
Attention deficit hyperactivity disorder (ADHD) and conduct disorder
Sudden infant death syndrome (SIDS)
Cleft lip and palate
What can result from opioid use during pregnancy
Fetal dysgenesis
Placental abruption
Respiratory depression
Neonatal abstinence syndrome
What can result from cocaine use during pregnancy
Causes vasoconstriction in the placental vessels
Intrauterine growth retardation and low birth weight
Increased risk of preterm labor and placental abruption
What was Diethylstilbestrol used for previously
A synthetic estrogen that is primarily used to prevent miscarriages in expectant mothers
What were the adverse effects found in use of Diethylstilbestrol, leading to it’s approval being revoked
Vaginal clear cell adenocarcinoma
Congenital anomalies of the Müllerian duct
What was Thalidomide used for previously
A sedative that was used to treat nausea or vomiting in pregnant women (now administered in limited indications, e.g., multiple myeloma)
What were the adverse effects found in use of Thalidomide, leading to it’s approval being revoked for use in pregnancy
Thalidomide embryopathy:
- Symmetrical amelia (complete absence of limbs)
- Micromelia (“flipper limbs”)
- Anotia (absence of the external ear)
- Phocomelia: a teratogenic limb defect that is characterized by the absence of the proximal portion of a limb (hand or foot are directly attached to the shoulder or hip)
What are the potential effects from radiation exposure during pregnancy
Chromosomal damage or cell death leading to:
- Microcephaly
- Intellectual disability
- Growth restriction
- Malignancy
What are the potential effects of maternal lead toxicity
Spontaneous abortion
Stillbirth
Hemangiomas, lymphangiomas, hydroceles, skin tags, undescended testes
VACTERL
What are the potential effects of maternal mercury toxicity
Cerebellar atrophy
Atrophy of the visual brain cortex
Polyneuritis
What is sudden infant death syndrome
SIDS
The abrupt and unexplained death of an infant
Diagnosis requires that a forensic examination reveals no other cause of death
What is the epidemiology of SIDS
Peak incidence at 2-6 months
In rare cases during the first days of life
Male>female
Over 90% of SIDS occur during sleep
What is the aetiology of SIDS
Unclear but suggests that caused by a combination of both extrinsic and intrinsic factors which ultimately lead to acute or chronic hypoxia
Extrinsic factors (triggers):
- Sleeping in the prone position
- Exposure to nicotine during pregnancy and after birth (including 2nd-hand smoking)
- Overheating
- Unsafe sleeping environment or CO2 rebreathing: e.g., a shared blanket, stuffed animals in the crib (because of the grasping reflex, newborns tend to drag items to their faces)
- Many more correlations:
- SIDS in siblings,
- babies born prematurely,
- young mothers (< 20 years),
- low socioeconomic status, etc.
Intrinsic factors:
-Brainstem disorder that includes morphologic/ biochemical abnormalities of serotonin (known as 5-hydroxytryptamine or 5-HT), which impacts the respiratory drive, the ability to wake up, blood pressure, upper respiratory reflexes , and body temperature.
How is SIDS diagnosed
Diagnosis of exclusion.
If there is an unexplained death of an apparently healthy infant, an autopsy is required by law to rule out other causes of death.
Differentials:
- Congenital anomalies that could lead to infant death (e.g., cardiac anomalies)
- Intentional suffocation; evidence of battered child syndrome
What is an apparent life-threatening event of an infant (ALTE)
A sudden and unexpected event occurring in an infant that is considered life-threatening by the observer and is characterized by some combination of the following:
- Apnea
- Changes in skin color (usually cyanosis or pallor) and/or muscle tone (e.g., rigidity, floppiness)
- Choking/gasping
May occur when the infant is awake or asleep
Not associated with SIDS
What is the epidemiology of ALTE
Reported incidence is 0.05-6%
What is the aetiology of ALTE
Most common causes:
- seizure,
- respiratory tract infection,
- gastroesophageal reflux,
- cardiac conditions (e.g., arrhythmia)
Associated risk factors:
- age < 10 weeks,
- prematurity,
- prior ALTE,
- feeding difficulties,
- and/or symptoms of upper respiratory infection
What is the prognosis of ALTE
Recurrence is high but overall mortality is low (<1%)
How is SIDS prevented
Parents should receive information on how to prevent SIDS during prenatal care and in pediatric check-ups after birth.
During pregnancy:
- No smoking, alcohol, or recreational drugs
- Prenatal care
Protective factors after birth:
- The infant should be placed to sleep in the supine position
- Safe sleep environment:
- firm mattress;
- no:
- – pillows,
- – blankets,
- – stuffed animals,
- – bumper pads in the crib.
- In the first 6 months, co-sleeping in the same room without bed-sharing
- Second-hand smoke and overheating should be avoided
- Use of pacifier during sleep
- Breastfeeding until the 4th–6th month
- “Tummy time”
- Immunization in line with the official schedule
What causes congenital infections
Pathogens transmitted from mother to child during pregnancy (transplacentally) or delivery (permpartum)
What does the acronym TORCH stand for
Toxoplasmosis
Others:
- Syphilis (Treponema pallidum)
- Listeriosis
- Varicella zoster virus
- Parovirus B19 infection
Rubella virus
Cytomegalovirus (CMV)
Herpes simplex virus (HSV)
What are congenital TORCH infections
Vertically transmitted infections (acquired directly from the mother and transmitted to the embryo, fetus or newborn through the placenta or birth canal) that are capable of significantly influencing fetal and neonatal morbidity and mortality
Which vaccines are contraindicated in pregnancy
Live vaccines: measles, mumps, rubella and varicella
Conception should be avoided for 1 months after immunisation with live vaccines
How common is congenital toxoplasmosis
~0.5-1 : 10,000 live births per year
Which pathogen causes congenital toxoplasmosis
Toxoplasma gondii
How is toxoplasmosis transmitted to a newborn
Mother:
- Cat feces
- Raw or insufficiently cooked meat
- Unpasteurized milk (especially goat milk)
Fetus:
- Transplacental transmission
- First trimester: ∼ 15%
- Third trimester: ∼ 70%
What are the clinical features of congenital toxoplasmosis
First trimester:
- Increased risk of premature birth and spontaneous abortion
- Classic triad of toxoplasmosis
- Chorioretinitis (a form of posterior uveitis)
- Diffuse intracranial calcifications
- Hydrocephalus
- Possible other nonspecific clinical features:
- Petechiae and purpura (blueberry muffin rash)
- Fever
- Jaundice
- Hepatosplenomegaly
- Lymphadenopathy
- Pneumonitis
- Seizures
- Macrocephaly or microcephaly
- Thrombocytopenia
Second or third trimester:
-Subclinical or mild toxoplasmosis
Sequelae of congenital toxoplasmosis:
- Epilepsy
- Intellectual disability
- Visual disabilities (chorioretinitis → increased risk of retinal lesions , cataracts, and glaucoma)
- Sensorineural hearing loss
How is congential toxoplasmosis diagnosed
Fetus:
-PCR for T.gondii in amniotic fluid
Newborn:
-CT/MRI: intracranial calcifications, hydrocephalus, ring-enhancing lesions
-T. gondii-specific IgM antibodies (CSF, serum)
PCR forT. gondii DNA (CSF, serum)
-Ophthalmological evaluation: chorioretinitis
How is congential toxoplasmosis treated
Mother: immediate administration of spiramycin to prevent fetal toxoplasmosis
Fetus: When confirmed or highly suspected, switch to pyrimethamine, sulfadiazine, and folinic acid.
Newborn: pyrimethamine, sulfadiazine, and folinic acid
What are the 4 Cs pf congenital toxoplasmosis
Cerbral calcifications
Chorioretinitis
hydroCephalus
Convulsions
How can congenital toxoplasmosis be prevented
Avoid raw, undercooked, and cured meats.
Wash hands frequently, especially after touching soil (e.g., during gardening).
Avoid contact with cat litter.
How common is congenital syphilis
~23:100,000 live births per year in US
What pathogen causes congenital syphilis
Treponema pallidum
How is congenital syphilis transmitted
Mother:
-Sexual contact (contact with infectious lesion)
Fetus:
- Transplacental transmission from infected mother
- Increased risk of transmission with recent syphilis infection
- Risk of transmission increases with gestational age
Neonate:
-Perinatal transmission during birth
How does congenital syphilis present
In utero syphilis:
- Miscarriage
- Stillbirth
- Hydrops fetalis
Early congenital syphilis (onset < 2 years of age):
- Hepatomegaly and jaundice
- Rhinorrhea with white or bloody nasal discharge (also called “snuffles”)
- Maculopapular rash on palms and soles; a bullous form of the rash called pemphigus syphiliticus may be present at birth.
- Skeletal abnormalities (e.g., metaphyseal dystrophy, periostitis)
- Generalized lymphadenopathy (nontender)
Late congenital syphilis (onset > 2 years of age):
-Typical facial features:
– saddle nose,
– frontal bossing,
– short maxilla
-Dental findings:
– Hutchinson’s teeth (notched, widely spaced teeth);
– mulberry molars (poorly developed first molars)
-Eyes and ears
– Syphilitic keratitis: nonulcerative, interstitial keratitis that develops as a late complication of syphilis
(More common in patients with congenital syphilis than acquired syphilis. Causes stromal inflammation)
– Sensorineural hearing loss
-Skin: rhagades (perioral fissures, cracks, and/or scars, particularly near the corners of the mouth and nose)
-Skeletal
– Saber shins: An anterior bowing of the tibia, causing it to resemble a saber
(Other causes include rickets and Paget disease of bone.)
– Painless arthritis in knees and other joints
-Neurological:
– cranial nerve palsies (e.g., CN VIII defect causing deafness),
– intellectual disability,
– hydrocephalus
How is congenital syphilis diagnosed
Newborn and mother:
- Initial test: Rapid Plasma Reagin (RPR) or Venereal Disease Research Laboratory (VDRL) (serum)
- Confirmatory test: dark-field microscopy or PCR of lesions or bodily fluids
Fetus:
-repeated ultrasound examinations (looking for placentomegaly, hepatomegaly, ascites, and/or hydrops fetalis)
How is congenital syphilis treated
10 days IV penicillin G for both pregnant women and newborns
How is congenital syphilis prevented
Maternal screening and, if positive, antibiotic treatment: should take place in early pregnancy because placental transmission is most likely to occur after the first trimester.
Nationally notifiable condition: Congenital syphilis and syphilitic childbirth must be reported
WHat is Hutchinson triad
Triad of common symptoms of congenital syphilis
Interstitial keratitis
Sensorineural hearing loss
Hutchinson teeth
How common is congenital listeriosis
~3:100,000 live births per year in the US
Which pathogen causes congenital listeriosis
Listeria monocytogenes
How is congenital listeriosis transmitted
Mother:
- Contaminated food: especially raw milk products
- Other possible sources: fish, meat, and industrially processed vegetables (e.g., ready-made salads)
Fetus:
- Transplacental transmission from an infected mother
- Direct contact with infected vaginal secretions and/or blood during delivery
What are the clinical features of congenital listeriosis
Listeriosis of pregnancy:
- Increased risk of premature birth and spontaneous abortion
- Early-onset syndrome: granulomatosis infantiseptica
- Severe systemic infection characterized by disseminated abscesses (may develop in any organ system)
- Most common findings: respiratory distress and skin lesions
- Signs of meningitis may already develop.
Neonatal listeriosis:
-Late-onset syndrome (5 days to 3 weeks after birth): Listeria meningitis/encephalitis
How is congenital listeriosis diagnosed
Culture from blood or CSF samples (pleocytosis)
How is congenital listeriosis treated
IV ampicillin and gentamicin for both mother and newborn
How is congenital listeriosis prevented
Avoidance of soft cheese
Avoidance of potentially contaminated water and food
Notifiable condition so report to public health
How common is congenital varicella infection
Seroprevalence in the general population is ∼ 95%.
Most mothers have been vaccinated, so congenital infection is rare (< 2%).
Which pathogen causes congenital varicella infection
Varicella zoster virus
How is congenital varicella infection transmitted
Mother:
- Primary infection
- Airborne droplets
- Direct skin contact with vesicle fluid
- Reactivation: usually in immunocompromised individuals
- Chickenpox and Shingles
Fetus:
-Transplacental transmission from an infected mother
What are the clinical features of congenital varicella infection
Congenital varicella syndrome (infection during first and second trimester):
- Hypertrophic scars (cicatricial skin lesions)
- Limb defects (e.g., hypoplasia)
- Ocular defects (e.g., chorioretinitis, cataracts, microphthalmia)
- CNS defects (e.g., cortical atrophy, seizures, intellectual disability)
- Hydrocephalus
Neonatal varicella:
- Mild infection (maternal exanthem (rash) > 5 days before birth)
- Severe infection (maternal exanthem (rash) < 5 days before birth):
- hemorrhagic exanthem,
- encephalitis, pneumonia, or
- congenital varicella syndrome (mortality rate of up to 30%)
How is congenital varicella infection diagnosed
Newborn and mother:
- Usually clinical diagnosis is confirmed by appearance of skin lesions
- DFA or PCR of fluid collected from blisters or cerebrospinal fluid (CSF)
- Serology
Fetus:
-PCR for VZV DNA (in fetal blood, amniotic fluid) and ultrasound to detect fetal abnormalities
