Child & Adolescent Health Flashcards
15%
Classification by ages: Neonate
< 1 month
Classification by ages:
Infant
1 month - 1 yo
Classification by ages: Toddler
1 - 3 yo
Classification by ages:
Child
4-10 yo
Classification by ages: Adolescent
- Girls: 10 - 15/17
- Boys: 12 -16/18
Screening for children: Head
Recorded until 2 years.
Should increase by 1 cm per month in the first 3 months, then 0.5 cm per month from 3–6 months.
Screening for children: Hips
At birth, 6–8 weeks, 6–9 months and 12–24 months.
Ortolani: most likely to be positive at 3–6 weeks and usually negative after 8 weeks. Shortening or limited abduction is also abnormal.
Ultrasound examination is more sensitive between 3–4 months.
Screening for children: Visual acuity
At birth and 6-8 weeks: Cataracts and red reflexes.
At 9 months: Gross vision (ability to see common objects)
Formal assesment: School entry, using Sheridan Gardiner charts.
Visual acuity REFERRAL indications
- Nystagmus
- Wandering eye
- Lack of fixation, or lack of following movements
- Photophobia
- Opacities
- Visual delayed development
To rule out: Retinoblastoma, congenital cataract and glaucoma (all needs emergency surgery)
Strabismus phisical exam
Strabismus types (4)
TLCA
Transient and latent (occurs under stress, e.g. fatigue) usually are not a problem.
Early referral: constant and alternating
Screening for children: Strabismus
What group ?
OEQ
AGE: Infants and toddlers
Examination:
1. Occlusion testing (not very sensitive)
- Examining light reflexes
- Questioning parents
Strabismus COMPLICATION
**Amblyopia **can be prevented and treatment of strabismus by occlusion (the good eye) OR surgery (Best at 1–2 yo). Early referral is essential.
Amblyopia Description
Same as ‘lazy eye’
Reduction in visual acuity due to abnormal visual experience in early childhood. It is the main reason for poor unilateral eyesight until middle age.
Amblyopia Causes (3)
Lazy eye
Also called: amblyopia
- Strabismus
- Hypermetropia
- Congenital cataract
Blindness in children causes by order (5)
- Cortical blindness (bilateral lesions of the striate cortex in the occipital lobes)
- Optic atrophy
- Choroidoretinal degeneration
- Cataract
- Retinopathy of prematurity (abnormal blood vessels grow in the retina)
Screening for children: Hearing
9 months or earlier: Distraction.
4 years (preschool entry) and 12 years: Pure tone audiometry at 1000 and 4000 hertz
Formal audiological evaluation should be carried out at any time if there is clinical suspicion or parental concern. No simple screening test is very reliable for sensorineural or conductive deafness.
Screening for children: Testes
Screen at birth, and 6–8 weeks, 6–9 months and 3 years for absence or maldescent.
Those who have been treated for maldescent have a higher risk of neoplastic development in adolescence.
Screening for children: Speech and language
When should it be heard?
A child’s speech should be intelligible to strangers by 3 years.
It is related to hearing.
Screening for children: BMI Percentile > 95 indicates
Obese
Screening for children: BMI Percentile between 85-95 indicates
Overweight
Screening for children: BMI Percentile between 5 - 85 indicates
Normal
Screening for children: BMI Percentile < 5 indicates
Underweight
Correction in prematurity
Correct for prematurity but only until 24 months.
If an infant was born at 36w, then you add 4w to the normal milestone
Height Calculation (2 formulas)
1 FORMULA
Father + Mum / 2
*Boys + 6.5
*Girls - 6.5
—————————————–
#2 FORMULA
Boys: [father’s height in cm + (mother’s height in cm + 13 cm)]/2
Girls: [(father’s height in cm – 13 cm) + mother’s height in cm]/2
Normal development Milestones Chart (6 weeks - 4yo)
Areas of Development (4)
Gross motor
Vision and fine motor
Hearing, speech, and language
Social, emotional, and behavioral
Global Development Delay DEFINITION
2 or more development areas delayed
Normal development Milestones 4 weeks old
Gross motor: Lifts chin up
Normal development Milestones 2 months old
Social, emotional, and behavioral:
- Social smile
Normal development Milestones 3 months old
Social, emotional, and behavioral:
- Recognize the mother
Normal development Milestones 4 months old
Gross motor:
- Roll over (prone to supine)
- Lifts head up 90 degrees when lying prone
Vision and fine motor:
- Grasps and plays/shakes with an object
Hearing, speech, and language:
- Turns to voice
Normal development Milestones 5 months old
Gross motor:
- Rolls (supine to prone). So… Roll both directions
Normal development Milestones 6 months old
Gross motor:
- Begins to sit with support
Vision and fine motor:
- Palmar grasp
Hearing, speech, and language:
- Babbling well established
- Respond to own name
Normal development Milestones 8 months old
Vision and fine motor:
- Transfers objects from hand to hand
Normal development Milestones 9 months old
Gross motor:
- Sits without support
- Crawling
Vision and fine motor:
- Inferior / Crude pincer grip
Social, emotional, and behavioral:
- Anxious with strangers
Other: First tooth (review info)
Normal development Milestones 10 months old
Gross motor:
- Standing with support (holding on)
Hearing, speech, and language:
- Understands “NO”
Normal development Milestones 12 months old
Gross motor:
- Walk with support
- Cruises around furniture
Vision and fine motor:
- Finger feeds
Hearing, speech, and language:
- First word
Social, emotional, and behavioral:
- Waves “goodbye”
- Plays ‘peek-a-boo’
- Claps hands
- Possible separation anxiety (since 6 months)
Normal development Milestones 2 years old
Gross motor:
- Walks up and down stairs holding on
Vision and fine motor:
- Turns pages
- Uses a spoon
- Build a six-block tower
- Scribbling
- Pencil skills: LINE
Hearing, speech, and language:
- 2 to 4 words sentences
Normal development Milestones 3 years old
Gross motor:
- Climbs stairs alternating foot
- Rides a tricycle
Vision and fine motor:
- Build a nine-block tower
- Pencil skills: Circle
Normal development Milestones 4 years old
Gross motor:
Hops and stand on one foot > 2 sec
Vision and fine motor:
-Pencil skills (in order)
*Cross
*Square
*Triangle
Hearing, speech, and language:
- Give first and last name
Normal development Milestones 5 years old
Gross motor:
- Climb
- Somersault
Vision and fine motor:
- Self toilet
- Use a fork and spoon
- Can get dressed and undressed
Hearing, speech, and language:
- Speaks very clearly
- Name colors
Normal development Milestones 6 years old
Gross motor:
- Riding a bicycle
- Skipping
Normal development Milestones 15 months old
Gross motor:
Walk alone or with one hand held
Vision and fine motor:
Neat/mature pincer grip
Individual finger activities (9–18 months) ORDER (3):
- Pinching (pulp-to-pulp)
- Pincing (tip-to-tip with curled fingers)
- Pointing
Normal development Milestones 18 months old (1.5 yo)
Gross motor:
- Pointing
- Walks well
- Probably holding hand upstairs
Vision and fine motor:
- Drinks from a cup
- Builds a 2-3 block tower
Hearing, speech, and language:
- Says mama/dada appropriate
- Points to body parts
Pencil Grasp by ages
Corrected gestational age for premature babies
Corrected age = Chronological age (-) # weeks or months premature
weeks or months premature = 40 weeks (-) weeks at birth
NOTE: The corrected age is taken into consideration when looking at
milestones until the age of 2 years old.
NEWBORN SCREENING – Heel Prick Test – Guthrie (9)
Done at 2-4 days old
Include 9 conditions:
1. Congenital hypothyroidism (CHT)
2. Sickle cell disorders
3. Cystic fibrosis (CF)
4. Phenylketonuria (PKU)
5. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
6. Maple syrup urine disease (MSUD)
7. Isovaleric acidaemia (IVA)
8. Glutaric aciduria type 1 (GA1)
9. Homocystinuria (pyridoxine unresponsive) (HCU)
“Superheroes Save Cute Precious Kids, Making Magnificent Impact, Generating Happy Hugs.”
1. Superheroes (S) - Sickle cell disorders 2. Save (S) - Congenital hypothyroidism (CHT) 3. Cute (C) - Cystic fibrosis (CF) 4. Precious (P) - Phenylketonuria (PKU) 5. Kids (K) - Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) 6. Making (M) - Maple syrup urine disease (MSUD) 7. Magnificent (M) - Isovaleric acidaemia (IVA) 8. Impact (I) - Glutaric aciduria type 1 (GA1) 9. Generating (G) - Homocystinuria (pyridoxine unresponsive) (HCU)
Apnoea after birth MANAGEMENT (4 steps)
- Call for help
- Stimulate (rubbing of soles of feet
or chest) and assess response - Airway - opening manoeuvres
- Head and neck positioned in a neutral position
- Gently suction mouth and nostrils if necessary - Positive pressure ventilation:
BAG AND MASK.
Neonatal Respiratory Distress Clinical Features (6)
RR > 60/ min
HR > 160/min
Grunting
Intercostal space drawing
Nasal flaring
Central cyanosis
Neonatal Respiratory Distress CAUSES (3)
- Transient Tachypnoea of the Newborn (TTN)
- Meconium Aspiration Syndrome (MAS)
- Hyaline Membrane Disease (HMD)
Neonatal Respiratory Distress Comparison Table
Neonatal Respiratory Distress Initial investigation
- Pulse oximetry (Continuous monitor)
- Arterial blood gas (ABG): not indicated initially, unless an underlying condition is suspected or ongoing respiratory
difficulty exists.
Neonatal Respiratory Distress Best Investigation
Chest X-Ray
Transient Tachypnoea of the Newborn FOLLOW-UP TREATMENT
- Medical care is supportive: Supplemental oxygen to maintain adequate arterial
oxygen saturation.
Transient Tachypnoea of the Newborn IMAGING
CHEST X-RAY (diagnostic standard)
- Prominent perihilar streaking, which correlates with the engorgement of the lymphatic system with retained lung fluid, and fluid in the fissures.
- Small pleural effusions.
- Patchy infiltrates.
RESPIRATORY DISTRESS SYNDROME or Hyaline membrane disease (same) COMPLICATIONS (7)
Respiratory Distress Syndrome (RDS) or Hyaline Membrane Disease is a condition that primarily affects premature infants, where their lungs are not fully developed. This can lead to several complications. Here’s a list of 7 possible complications:
-
Septicaemia:
- A severe bloodstream infection that can occur in premature infants due to their weakened immune systems.
-
Necrotizing Enterocolitis (NEC):
- A serious intestinal disease that mostly affects premature babies, where portions of the bowel undergo tissue death.
-
Retinopathy of Prematurity (ROP):
- An eye condition where abnormal blood vessels grow in the retina, which can lead to vision problems or blindness.
-
Hypertension:
- High blood pressure, which can develop as a long-term consequence of the stress and treatments associated with RDS.
-
Failure to Thrive:
- Poor growth and weight gain due to the difficulties in feeding and breathing that these babies face.
-
Intraventricular Hemorrhage (IVH):
- Bleeding into the brain’s ventricular system, which is more common in premature infants with RDS.
-
Periventricular Leukomalacia (PVL):
- A type of brain injury involving the white matter near the brain’s ventricles, which can lead to long-term neurodevelopmental issues, including motor and cognitive impairments, as well as audio-visual handicaps.
These complications highlight the importance of close monitoring and specialized care for infants with RDS to manage and mitigate these risks.
Septicaemia
Necrotizing enterocolitis (NEC)
Retinopathy of prematurity (ROP)
Hypertension
Failure to thrive
Intraventricular hemorrhage (IVH)
Periventricular leukomalacia (PVL) - With associated neurodevelopmental and audio-visual handicaps
Transient Tachypnoea of the Newborn FOLLOW-UP INVESTIGATIONS
When to do chest xray?
When to do echo?
- **CXR **IF:
- Meconium aspiration syndrome suspicion
- Neonatal pneumonia suspicion
- Respiratory status worsens
- Echocardiogram IF:
- Persistent tachypnea > 5-6 days. Rule out
congenital cardiac anomalies and function.
Neonatal Pulmonary Alveolar Proteinosis - General Features (2):
- Baby at term w/ sibling that died of the same, and now have severe resp distress
Physiopathology: Over-production of surfactant proteins within the alveoli.
Neonatal Pulmonary Alveolar Proteinosis - Etiology:
*Autoimmune (90%)
*Secondary (4%)
*Congenital (1%), depending on the gene involved:
- Autosomal dominant
- Autosomal recessive
- X-linked recessive
Neonatal Pulmonary Alveolar Proteinosis - Treatment (2):
- Bronchoalveolar lavage.
- Lung transplant.
Sudden infant death syndrome RISK FACTORS (7)
- Smoking parents (passive smoking)
- Parental narcotic/cocaine abuse
- Prone position during sleep
- Artificial feeding
- Hyperthermia
- Extreme prematurity
- URTI
PNEUMONIA: Most common causes (microorganisms)
What are the (5) Signs of withdrawal in kids with:
Neonatal Abstinence Syndrome
“Chatterbox Hippo Took Special Herbs”
- Chatterbox (C) - High-pitched cry
- Hippo (H) - Hyperreflexia
- Took (T) - Tremors
- Special (S) - Seizures
- Herbs (H) - Hypertonia
What are the (2) onsets of: Neonatal Abstinence Syndrome
Drugs and days
Heroine (2-3 days)
Methadone (up to 1-2w)
Neonatal Abstinence Syndrome - Treatment
Morphine to assist with gradual withdrawal, then decrease slowly.
Neonatal Overdose Syndrome (narcotics/opioid) - Clinical Features (3)
- Pinpoint pupils
- Lethargy
- Mom’s use of opioids: Meperidine (Demerol), pethidine & heroine
Neonatal Overdose Syndrome (narcotics/opioid) - First Treatment (1) and then Best Treatment (1)
When to give best treatment?
Treatment:
- Next: Bag and mask ventilation
- Best: Naloxone is tx. Should only be
given if the mother has received narcotics < 2 hrs of delivery
Apnoea after birth in a term neonate SUSPECTED CAUSE
Hx of drug use
Neonatal overdose syndrome.
(History of Mom’s use of opioids)
Neonatal Hypoglycaemia - Clinical features & Associations:
“Jittery People Invite Seizures, High Lethargy, Happily”
Clinical features:
1. Jittery (J) 2. Peripheral cyanosis (P) 3. Irritability (I) 4. Seizures (S) 5. High pitched cry (H) 6. Lethargy (L) 7. Hypotonia (H)
Associations:
Happy Monkeys Make Charming Smiles”
1. Happy (H) - Hepatomegaly 2. Monkeys (M) - Micropenis, Macrosomia 3. Make (M) - Macrosomia 4. Charming (C) - Cleft lip
Clinical features:
-
Jitteriness
- Peripheral cyanosis - Irritability
- Poor feeding
- Seizures
- High pitched cry
- Lethargy
- Hypotonia (rare)
Association with:
- Hepatomegaly
- Micropenis
- Macrosomia
- Cleft lip
Investigations???
Treatment???
NEONATAL JAUNDICE - Bilirubin concentration
What happens if not jaundiced to naked eye?
How much needs to show? Value range
Jaundice may not be visible in the neonate’s skin until the bilirubin concentration exceeds 70-100 micromol/L.
Infants that are not jaundiced to the naked eye do not need routine bilirubin checking.
Transcutaneous bilirubinometer indications (TCB)
- > 35 weeks gestation
- > 24 hours old for the first measurement.
- TCB can be used for all subsequent measurements, providing the level remains <250 µmol/L and the child has not required treatment
NOTE: If the patient is not a good candidate for TCB, SERUM BILIRUBIN should be performed
NEONATAL JAUNDICE: Kramer’s RULE
Still, send the child for serum bilirubin (SBR) ASAP - despite Kramer rule results
Phototherapy and Exchange transfusion Indications
NICE treatment threshold graph
Phototherapy Procedure
What to give baby?
When to stop therapy?
What about sunlight?
There are different types:
Single Light - Double Lights w/ Bili blanket or even Triple Lights.
They are all the same methods just different intensity of exposure.
Give the baby eye protection
Cease phototherapy when SBR is at least 50 micromol/L below the phototherapy range for the age.
SUNLIGHT EXPOSURE IS NOT RECOMMENDED AS A TREATMENT FOR JAUNDICE
Name 8 complications of Phototherapy
“Sunlight Waterfall Drenches Itchy Rash. Really Bad Anxious Babies”
Each word corresponds to one of the potential complications:
1. Sunlight (S) - Overheating 2. Waterfall (W) - Water loss 3. Drenches (D) - Diarrhea 4. Itchy (I) - Ileus (preterm infants) 5. Rash (R) - Rash (no specific treatment required) 6. Really (R) - Retinal damage (theoretical) 7. Bad (B) - Parental anxiety/separation 8. Anxious (A) - ‘Bronzing’ of infants with conjugated hyperbilirubinemia.
Rh disease: Exchange transfusion - Indications: (3)
Include numbers
have cord blood haemoglobin < 100 g/L
have cord bilirubin > 80 micromol/L
are visibly jaundiced within 12 hours of birth.
Exchange transfusion Procedure
What do you do during and after the procedure?
During:
* Continuing multiple phototherapy
* Perform a double-volume exchange
After:
* Maintain continuous multiple phototherapy
* Measure serum bilirubin level within 2 hours and manage according to threshold table
Exchange transfusion COMPLICATIONS (8)
- apnoea
- bradycardia
- cyanosis
- vasospasm
- air embolism
- infection
- thrombosis
- necrotising enterocolitis
Kernicterus Definition
Permanent clinical sequelae of bilirubin toxicity (UNCONJUGATED)
Kernicterus Definition Clinical Features (5)
- Athetoid/Dyskinetic cerebral palsy (abnormal posturing, tone, and involuntary movements)
- Developmental and intellectual delay
- Hearing deficit
- Dental dysplasia
- Oculomotor disturbance
Kernicterus Risk Factors (4)
Serum bilirubin
Preterm infant
Rapid rising
Clinical features
Serum bilirubin >340 micromol/L in term neonates
Preterm infants may be at risk at lower SBR < 300
micromol/L
Rapidly rising bilirubin level of greater than 8.5 micromol/L per hour
Clinical features of acute bilirubin encephalopathy
Acute bilirubin encephalopathy Clinical Features (8)
Initially:
- Decreased feeding (poor suck reflex)
- Lethargy
- Abnormal tone: hypotonia
Progress to:
- High-pitched cry
- Abnormal tone: Hypertonia
- Retrocollis and opisthotonus
- Setting-sun sign (upward-gaze paresis)
- Fever
- Seizures
PHYSIOLOGICAL NEONATAL JAUNDICE: Mechanism (3)
- Shorter lifespan of neonatal red blood cells
- Immature liver function at birth
- A relatively high concentration of β-glucuronidase in the small intestine
PHYSIOLOGICAL NEONATAL JAUNDICE: Risk factors (4)
PECS
- Preterm babies (higher bilirubin levels)
- Exclusive breastfed babies
- Babies with significant bruising or cephalohaematoma: The breakdown of RBCs within the cephalohaematoma causes higher bilirubin levels and predisposes to jaundice.
- Previous sibling with neonatal jaundice requiring phototherapy
PHYSIOLOGICAL NEONATAL JAUNDICE: Characteristics
- Day 2-14 (> 21 in preterm)
- Mild
- Diagnosis of exclusion
- Resolves in 2w
- Rarely exceeds 220 micromol/L
PATHOLOGICAL NEONATAL JAUNDICE: Characteristics
- Too early < 24 hours of age
- Too Long > 10 - 14 days of age (term: 2 weeks / preterm: 3 weeks)
- Too high > 220 micromol/L
- CONJUGATED Hyperbilirubinemia
NEONATAL JAUNDICE: UNconjugated (INDIRECT) Hyperbilirubinemia CAUSES
- Physiological
- Breast milk jaundice
- Sepsis
- Metabolic:
- Gilbert’s syndrome
- Congenital hypothyroidism
- Crigler-Najjar syndrome
- Hemolytic:
- ABO/Rh incompatibility
- Spherocytosis
- G6PD deficiency
- Sickle cell anemia
NEONATAL JAUNDICE: Conjugated (DIRECT) Hyperbilirubinemia CAUSES
- Biliary atresia
- Neonatal hepatitis
- TORCH infection
- Idiopathic
- Metabolic: Galactosemia, Wilson, alpha 1antitripsine.
NOTE:
Always > 24 h
Conjugated bilirubin level >25 micromol/L because this may indicate serious liver disease
Biliary atresia VS Idiopatic Neonatal hepatitis
NEONATAL JAUNDICE + unwell state, suggests:
Sepsis OR GIT obstruction
NEONATAL JAUNDICE < 24-48 H UNCONJUGATED suggests:
SSRO
Hemolysis
- ABO incompatibility (Most common)
- Mother: O group; Child: A or B
- Direct Coombs (+)
- Peripheral smear: Spherocytes (some) - Spherocytosis
- Peripheral smear: Predominant spherocytes
- Direct Coombs (-)
- FBE:↑ MCHC
- FxHx: Anemia/spherocytosis/gallstones - Sickle Cell
- Peripheral smear: Sickle and target cells
- Direct Coombs (-)
- African descendants - Rh incompatibility (Most severe)
- Peripheral smear: NO spherocytes
- Direct Coombs (+)
NEONATAL JAUNDICE > 24-48 H ↑UNCONJUGATED, suggests:
- Physiological jaundice
Most Common cause in the first week:
- Term: 50%
- Preterm: 80%
finishes in 1-2 weeks (preterm 3 weeks) - Breast milk jaundice
Lasts up to 6 weeks
Diagnose: Suspending breastfeeding for 24-48 hrs = ↓ serum bilirubin - Neonatal sepsis
End of the first week (4-7 days old)
Lethargic + jaundice + hepatosplenomegaly
↑ BOTH, Direct and Indirect bilirubin.
NEONATAL JAUNDICE + Family history of hemolytic disease, suggests:
G6PD deficiency
OR
Spherocytosis (FxHx of gall stones)
NEONATAL JAUNDICE + Dark urine or pale stools OR ↑ DIRECT bilirubin, suggests:
Biliary obstruction (Biliary atresia)
JAUNDICE + Plethora, suggest:
Polycythaemia
NEONATAL JAUNDICE + Hepatosplenomegaly, suggest:
Hepatitis (↑ liver enzymes)
OR
Metabolic problems (Galactosemia)
NEONATAL JAUNDICE: Sepsis Management
1st Hemocultures
2nd ATB: Wich??
NEONATAL JAUNDICE: Gilbert’s Syndrome Clinical Features
Inheritance: Autosomal recessive
Deficit of glucuronyl transferase => ↑ unconjugated bilirubin
Triggers: fasting, intercurrent illness, menstruation, stress, and dehydration
Other blood tests are normal
No treatment required.
NEONATAL JAUNDICE: Gilbert’s Syndrome Contraindicated drugs
Amoxiclav
Flucoxaciline
Erythromycin
Rifampicin
Radiographic agent
NEONATAL JAUNDICE: Gilbert’s syndrome Diagnostic methods
Fasting bilirubin
Bilirubin after nicotinic acid
Liver biopsy (normal)
NOTE: Diagnostic tests are NOT performed in the majority of patients.
NEONATAL JAUNDICE: Congenital Hypotiroidism Clinical features (11)
listless
Goitre
prominent tongue
hoarse cry
puffy face
constipation
umbilical hernia
hypothermia
bradycardia
dry skin
failure to thrive
NEONATAL JAUNDICE: Congenital Hypotiroidism Risk factors (3)
DAM
Mother with:
- Diet: Iodine deficiency
- Medication history: Amiodarone, methimazole
- Auto-immune disease: Hashimoto
NEONATAL JAUNDICE: Congenital Hypotiroidism Investigations (3)
- T4 and TSH levels
- Serum bilirubin (SBR) if clinically indicated.
- Thyroid scan: showing absent, lingual or increased uptake of radioisotope
NEONATAL JAUNDICE: Congenital Hypotiroidism Management (4)
Referral to Endocrine team
Thyroxine replacement therapy ASAP
Growth and development must be closely monitored.
Hearing tests should be done.
NEONATAL JAUNDICE: Congenital Hypotiroidism Medical Treatment
Levotiroxine
NEONATAL JAUNDICE: Congenital Hypotiroidism Prognosis
Treatment time
Normal intellectual and physical development if the treatment is commenced promptly (<2 weeks old) and monitored closely.
NEONATAL JAUNDICE: Crigler Najjar syndrome Type 1
Inheritance: Autosomal recessive
UDP-G Absent
Unconjugated bilirubin > 340 micromol/L
Complication: Kernicterus, unless rapid treatment
Management:
Phototherapy, exchange transfusion, etc.
Phenobarbital doesn’t help
Crigler-Najjar Syndrome Type 1 is a rare and serious condition that affects newborns, causing severe jaundice. Here’s a simple explanation:
- Jaundice: Jaundice is when a baby’s skin and eyes turn yellow because of too much bilirubin in the blood. Bilirubin is a substance produced when red blood cells break down. Normally, the liver processes bilirubin so it can be removed from the body.
- Crigler-Najjar Syndrome Type 1: In this condition, the baby’s liver is missing an important enzyme called UGT1A1. This enzyme is crucial for processing bilirubin. Without it, bilirubin builds up to dangerous levels in the blood.
- Severe Symptoms: The high bilirubin levels cause intense jaundice that can start in the first few days of life. If not treated, the excess bilirubin can move to the brain, leading to a condition called kernicterus, which can cause brain damage.
- Phototherapy: The main treatment is phototherapy, where the baby is placed under special blue lights that help break down the bilirubin so it can be eliminated from the body.
- Liver Transplant: Since this condition is so severe and the enzyme is completely missing, a liver transplant might be considered later in life as a more permanent solution.
Crigler-Najjar Syndrome Type 1 is a condition where a newborn’s liver can’t process bilirubin due to a missing enzyme, leading to severe jaundice. It requires immediate treatment, like phototherapy, to prevent serious complications like brain damage.
NEONATAL JAUNDICE: Crigler Najjar syndrome Type 2
Inheritance: Autosomal recessive
UDP-G Decreased
Unconjugated bilirubin < 340 micromol/L
Management: Phenobarbital help
NEONATAL JAUNDICE: Spherocytosis CLINICAL FEATURES
🗿🗿🗿🗿🗿🗿
Inheritance: Autosomal dominant
- English – Irish – Scottish descendants.
- Gallstone family history
- Splenomegaly
- FBE: ↓ Hb ↑ MCHC
- Blood smear: Abnormally shaped RBC or Spherocytes
NEONATAL JAUNDICE: Spherocytosis FIRST INVESTIGATION
Osmotic fragility test
NEONATAL JAUNDICE: Spherocytosis BEST INVESTIGATION
Eosin-5-maleimide test
NEONATAL JAUNDICE: G-6PD Deficiency Inheritance
Found in?
- X-linked Recessive (only boys)
- Sudanese, African descents
NEONATAL JAUNDICE: G-6PD Deficiency Clinical Features (4)
Hemolytic anemia
Jaundice
Lethargy
Dark urine
NEONATAL JAUNDICE: G-6PD Deficiency FIRST investigations
- FBE: ↓ RBC count, ↓ Hb level, ↑ reticulocytes
- Peripheral blood smears:* Heinz bodies (bite cell): Inclusions within red blood cells composed of denatured hemoglobin
- LFT: ↑Total Bilirubin ↑Unconjugated (Haemolysis)
NEONATAL JAUNDICE: G-6PD Deficiency Diagnostic/BEST investigation
When do we do screening and with who?
- G6PD Assay
NOTE: Beutler fluorescent spot test is for screening
- Genetic Screening is recommended to all 1st degree relatives – also to exclude other haemolytic anaemias like Sickle that is also common in the same community
The G6PD (glucose-6-phosphate dehydrogenase) assay is a diagnostic test used to measure the activity of the G6PD enzyme in red blood cells. This enzyme is crucial for protecting red blood cells from oxidative damage. Deficiency in G6PD can lead to hemolytic anemia, especially when exposed to certain triggers such as certain foods, infections, or medications.
-
Purpose:
- To diagnose G6PD deficiency.
- To identify individuals at risk for hemolytic anemia.
- To guide treatment and preventive strategies for patients with known or suspected G6PD deficiency.
-
Indications for Testing:
- Unexplained hemolytic anemia, especially after exposure to known triggers (e.g., fava beans, certain medications).
- Family history of G6PD deficiency.
- Screening in populations with high prevalence of G6PD deficiency (e.g., certain ethnic groups such as those of Mediterranean, African, or Asian descent).
- Newborn screening in some countries.
-
Procedure:
- A blood sample is taken from the patient, usually from a vein.
- The sample is then analyzed in a laboratory to measure the activity of the G6PD enzyme.
-
Interpretation of Results:
- Normal G6PD Activity: Indicates no deficiency.
- Reduced G6PD Activity: Indicates G6PD deficiency, which may vary in severity.
- Severely Reduced or Absent G6PD Activity: Indicates a high risk for hemolytic anemia and other complications.
-
Clinical Implications:
- Positive Diagnosis: Patients diagnosed with G6PD deficiency should avoid known triggers such as certain drugs (e.g., sulfa drugs, antimalarials), fava beans, and infections.
- Management: Patients may need periodic monitoring, especially during times of increased oxidative stress (e.g., infections, exposure to triggering substances).
-
Limitations:
- The test may not be accurate during or immediately after a hemolytic episode, as younger red blood cells (reticulocytes), which have higher G6PD activity, may predominate.
- It is best to perform the assay during a stable period.
The G6PD assay is a crucial test for diagnosing G6PD deficiency, which is important for preventing hemolytic anemia in susceptible individuals. It is indicated in patients with unexplained hemolytic anemia, certain family histories, and in populations with high prevalence. Accurate diagnosis and management based on this test can significantly improve patient outcomes and prevent complications associated with G6PD deficiency.
NEONATAL JAUNDICE: G-6PD Deficiency Management (3)
What to avoid?
Severe case- what to do?
- Avoid oxidative stress triggers:
- Infections
- Cold weather
- Hypoxia
- Dehydration
- Acidosis
- Surgery
- Certain foods like fava beans
- Antioxidant drugs: Sulphonamides, antimalarial, nitrofurantoin, naphthalene, aspirin, high dose of Vit. C and K and
- Vit E
- SEVERE CASES: RCB TRANSFUSIONS
NEONATAL JAUNDICE: BILIARY ATRESIA Definition
Obliteration of the extra-hepatic bile ducts
- Fetal (20%)
- Perinatal: after birth (80%)
Type III it’s the most common (90%), and involves all biliary ducts.
NEONATAL JAUNDICE: BILIARY ATRESIA Clinical Features (6)
- Presentation: since the 1st week
- Prolonged Jaundice (> 14 days in term and > 21 in preterm)
- Dark urine
- Clay-colored stools (even meconium is pale)
- Abdominal pain (crying on changing diapers)
- Hepatosplenomegaly ( >2cm below costal margin)
NEONATAL JAUNDICE: BILIARY ATRESIA Investigations (4)
Routine and urgent
- LFT (all kids with JAUNDICE)
- Total & Direct Bilirubin (↑CONJUGATED)
- Full Blood exam: Haemoglobin level
- Urgent: Abdominal US and GE review.
NEONATAL JAUNDICE: BILIARY ATRESIA Best Investigation
Percutaneous biopsy (gold-standard):
Bile ductular proliferation (>specific), bile plugging, multinucleated giant cells, focal necrosis of liver parenchyma, extramedullary hemopoiesis, and inflammatory cell infiltrate.
NEONATAL JAUNDICE: BILIARY ATRESIA Management
- Surgery:
- Portoenterostomy (Kasai procedure)
*Within 70 days to prevent biliary cirrhosis
OR
- Liver Transplant
Galactosemia: Clinical features (4)
CCFD
- Cataracts
- Chronic liver failure
- Failure to thrive (FTT): fails to gain weight or height.
- Delay: Slower than normal development of motor, cognitive, social, and emotional skills.
Galactosemia is a genetic disorder where the body can’t properly process galactose, a sugar found in milk and other dairy products. This can lead to serious health problems like liver damage, intellectual disability, and infections if not managed by avoiding galactose in the diet.
Galactosemia: Management
- Lactose-free formula
- Screen family members
Breast Milk Jaundice Clinical features
Very common
Develops within 2-4 days of birth, may peak at 7-15 days of age, and may persist for many weeks.
No need to stop breastfeeding
Lactose Intolerance: Clinical features (7)
- Watery or foamy stools
- Farty baby (LOL)
- Excoriation of buttocks
- Normal growth
- Abdominal bloating
- Gurgling stomach
- Presentation after an episode of viral gastroenteritis
Lactose intolerance FIRST MANAGEMENT
TRIAL: Cut lactose from the diet for 2 weeks.
RESULTS:
* Successful: Lactose should be cut out from the diet for 8 weeks and then gradually re-introduced over a week.
- Unsuccessful: Other causes should be suspected.
Lactose intolerance: Best Investigation
Endoscopy with Small bowel biopsy
DIARRHEA PART 1:
Viral
Typhoid – Enteric Fever Salmonella
Giardiasis
Amoebiasis
DIARRHEA PART 2:
Salmonella sp. (non-Typhoidal)
Shigella
E. coli
Campylobacter jejuni
DIARRHEA PART 3:
Clostridium difficile
Staph Aureus
Bacillus cereus
Clostridium sp
Clostridium botulinum
Vibrio Cholerae - Cholera
DD TABLE: Obstruction with bilious vomiting
Umbilical Discharge: Omphalitis CLINICAL FEATURES
Infection of the umbilicus and/or surrounding tissues.
Purulent (±bloody) discharge from the umbilical cord
Surrounding: induration, erythema, and tenderness.
Systemic signs such as fever, lethargy or poor feeding are suggestive of a more severe infection.
WEEZES CAUSES
BRONCHIOLITIS Deshidratation treatment
BRONCHIOLITIS : Referral and transfer indications
Bronchiolitis peaks between the age of 3-6 months
Asthma DIAGNOSE
ALSO:
Otherwise, unexplained low FEV1 or PEF (historical or serial readings)
Otherwise, unexplained peripheral blood eosinophilia
TYPES OF ASTHMA
Perthes Disease - Investigation
X-ray: AP of the pelvis ????
Infective Diseases School Exclusion
Patau syndrome Clinical features (5)
Trisomy 13
- Microcephaly
- Brain and heart malformation
- Cleft lip/palate
- Polydactyly
- Neural tube defect
Prognosis is poor—50% die within first month.
In simple terms, Patau syndrome is a rare genetic condition caused by having an extra copy of chromosome 13. This extra genetic material leads to a variety of physical and developmental problems, including facial abnormalities like cleft lip or palate, intellectual disability, heart defects, and other health issues. People with Patau syndrome may have a shortened lifespan and often require medical care to manage their symptoms and improve their quality of life.
Williams syndrome Clinical Features
‘elfin’ face + intellectual disability + aortic stenosis
chromosome 7
Elfin facial appearance
Mild pre- and postnatal growth retardation
Mild microcephaly
Mild-to-moderate developmental delay.
In the first 2 years of life, feeding problems, vomiting, irritability, hyperacusis, constipation and failure to thrive may lead to presentation, but children are rarely diagnosed at this stage.
Angelman syndrome Clinical features (8)
Abnormal chromosome 15
- Hand flapping
- ‘Puppet’-like ataxia
- Frequent laughter/smiling
- Microcephaly by age 2 years
- Developmental delay
- Speech impairment
- Seizures
- Cannot live independently
Treatment with minocycline is promising.
Klinefelter syndrome Clinical Features (10)
Tall with breasts
47, XXY genotype
lanky men + small testes + infertility
Approximately 2 out of 3 are never recognised
- Marked variation but usually:
- tall men with long limbs
- small firm testes ≤2 cm (10 mL)
- infertility (azoospermia)
- sparse facial hair
- reduced libido
- learning difficulties, especially reading
- intellectual ability may range from normal to disability
- gynaecomastia
- increased risk of DVT, breast cancer and diabetes (screening indicated)
Alagille Syndrome CLINICAL FEATURES
In simple terms, Alagille syndrome is a rare genetic disorder that affects various parts of the body, especially the liver and the heart. It’s caused by a mutation in a specific gene, which leads to problems with how the liver produces bile, a substance needed for digestion. People with Alagille syndrome may have symptoms such as yellowing of the skin and eyes (jaundice), poor growth, heart defects, facial features like a prominent forehead, and problems with the spine, eyes, and kidneys. Treatment focuses on managing the symptoms and may involve medications, dietary changes, and sometimes surgery, depending on the severity of the symptoms.
DiGeorge Syndrome CLINICAL FEATURES
Lesch-Nyhan Syndrome CLINICAL FEATURES (6)
Uric
Deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)
X-linked recessive
Most often affects males
- Uric acid levels are abnormally high
- Impaired kidney function
- Acute gouty arthritis
- Self-mutilating behaviors such as lip and finger biting and/or head banging.
- Involuntary muscle movements
- Neurological impairment
In simple terms, Lesch-Nyhan syndrome is a rare genetic disorder that affects how the body processes a substance called uric acid. People with this syndrome have problems with their nervous system, causing them to have uncontrollable muscle movements and behavioral issues like self-harming behaviors such as biting themselves. They may also have developmental delays and problems with urination. Lesch-Nyhan syndrome is caused by a mutation in a specific gene, and there is currently no cure, but treatment focuses on managing symptoms and improving quality of life.
