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 physical exam
Strabismus types (4)
Transient and latent (occurs under stress, e.g. fatigue) usually are not a problem.
Early referral: constant and alternating
Screening for children: Strabismus
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)
- 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
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 6 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
4Gross motor:
- Walks up and down stairs holding on
Vision and fine motor:
- Turns pages
- Uses a spoon
- Build a 4 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:
-3 words
- 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)
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)
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
- **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
- High-pitched cry
- Hyperreflexia.
- Tremors.
- Seizures.
- Hypertonia.
What are the (2) onsets of: Neonatal Abstinence Syndrome
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)
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
Neonatal overdose syndrome.
(History of Mom’s use of opioids)
Neonatal Hypoglycaemia - Clinical features & Associations:
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
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
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
overheating
water loss
diarrhoea
ileus (preterm infants)
rash (no specific treatment required)
retinal damage (theoretical)
parental anxiety/separation
‘bronzing’ of infants with conjugated hyperbilirubinemia.
Rh disease: Exchange transfusion - Indications: (3)
have cord blood haemoglobin < 100 g/L
have cord bilirubin > 80 micromol/L
are visibly jaundiced within 12 hours of birth.
Exchange transfusion 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 >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)
- 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:
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)
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
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
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
- 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
- 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
NEONATAL JAUNDICE: G-6PD Deficiency Management (3)
- 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)
- 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)
- 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: 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: First Investigation
Stool acidity test: Unabsorbed lactose is fermented by colonic bacteria into lactic acid, which lowers the stool pH.
Lactose intolerance: Best Investigation
Endoscopy with Small bowel biopsy
Lactose intolerance: Treatment
- Continue breastfeeding unless severe excoriation or inadequate weight gain
- Formula-fed infants should be placed in soy formula.
Cow’s Milk allergy - Clinical Features (3)
Clinical features:
- Diarrhea
- Malabsorption
- Failure to thrive (FTT)
Cow’s Milk allergy - First Investigation
Complete elimination of cow’s milk protein (CMP) challenge test.
Cow’s Milk allergy - Treatment (4):
- Breastfeeding: The mother should eliminate all foods containing cow’s milk protein (cheese, yogurt, and butter)
- Extensively hydrolyzed hypoallergenic formulas.
- Supplements of vitamin D and riboflavin.
- It doesn’t improve with soy, sheep’s or goat’s milk
cow’s milk micronutrient deficiencies
- Iron
- Vit C
Toddler diarrhoea
Age: 1 - 3 yo
Diarrhea with undigested food
(a piece of carrot)
Reassure and explain
Infantile colic - Clinical Features (5):
Clinical features:
- Crying for 3 hours in late afternoon and early evening
- Flexing legs
- Clenching fists
- Appears in pain
- Everything else is normal
Infantile colic - Management (3*):
- Exclude organic causes
- Reassure
- Infacol colic relief drops
Note: Severe cases can trial CMP elimination
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
Bilious Vomiting in
Neonate CAUSES (5)
- Malrotation and volvulus
- Duodenal atresia
- Meconium ileus
- Meconium plug
- Hirschsprung’s disease
DD TABLE: Obstruction with bilious vomiting
Milk-stained vomiting in
Neonate CAUSES (3)
- Pyloric stenosis
- Transoesophageal atresia
- Gastro-Oesophageal Reflux Disease (GORD)
- Infections: Gastroenteritis, UTI, Otitis media.
Malrotation of the Gut GENERAL FEATURES* (4)
*Don’t answer with clinical features
Abnormal rotation of the gut during embryogenesis.
1:6000 live births
Associated with duodenal atresia-stenosis, abdominal wall
defects, choanal atresia
Most patients will develop volvulus within the first week of life.
Malrotation of the Gut Clinical Features* (3)
*Don’t answer with general features
Bilious vomiting
Abdominal Distension is minimal (very late symptom)
Abdominal x-ray may be normal.
Malrotation of the Gut - Diagnosis (2):
- Abdominal xray is grally(-)
- USG: Malposition of the superior mesenteric vessels
Malrotation of the Gut - Treatment:
Requires urgent surgery
Duodenal Atresia GENERAL FEATURES
In 80% of cases, the obstruction is distal to the papilla of
Vater => bilious vomiting
Incidence: 1:5000 - 10000
M > F
Associated with Down syndrome in 25% of cases
Antenatal: Polyhydramnios
X-ray: ‘double-bubble’
Mx: referral for surgery
Meconium ileus GENERAL FEATURES & Presentation:
Thick tenacious meconium in the bowel causes obstruction.
15% of newborns with cystic fibrosis
90% of patients with meconium ileus have cystic fibrosis.
Presentation:
Acute early marked bowel distension within first 24hs w/ bilious vomiting. DRE: mucus plugs is still present.
Meconium ileus - Complications (2):
Volvulus
Bowel perforation and/or meconium peritonitis
Meconium ileus - Investigation
Xray
distended loops of the intestine with thickened bowel walls
meconium mixed with swallowed air produces a ‘ground-glass’ sign typical of meconium ileus
Free air, very large air-fluid levels => bowel perforation.
Meconium ileus - Management
Plan:
uncomplicated meconium ileus: hypertonic enemas & IV fluids
Immediate surgery for infants with complicated meconium ileus – perforations.
Meconium plug syndrome GENERAL/Clinical FEATURES
Most common form of functional distal intestinal obstruction in the neonate (1:500-1:1000). Caused by meconium in the distal colon or rectum.
Clinical Features:
* Acute marked abdominal distension and failure to pass meconium in the first 24hs of life.
Meconium plug syndrome - Investigation
X-Ray: Generalised intestinal dilatation (LBO)
Meconium plug syndrome - Management
Enema or digital exam is usually curative.
Hirschsprung’s Disease GENERAL FEATURES
Causes 15-20 % of newborn intestinal obstructions - 1:4000
Abnormal innervation of the colon => absence of ganglion cells in the Auerbach and Meissner Plexus
Distal spastic zone (contracted) w/ Proximal dilated zone (normal)
Hirschsprung’s Disease - Clinical Features
- 80% in the first 6 weeks of life - male > female
- Failure to pass meconium in the first 24 hours but w/ gradual onset of abdominal distension of days to weeks.
- Persistent and progressive constipation.
- Vomiting late
On digital rectal examination we have explosive poo.
The most serious complication is enterocolitis
Enemas should be avoided during episodes of enterocolitis because of the possibility of perforating the
colon
Hirschsprung’s Disease - Diagnosis
Rectal suction biopsy – Gold standard
Hirschsprung’s Disease - Management
Laxatives (mild cases)
Surgery
Necrotising Enterocolitis (NEC) GENERAL FEATURES
Rapidly progressive disease in (premature) newborns or w/low APGAR score.
- Causes extensive bowel necrosis, infection and perforation
- 10 -12 days after birth
- Associated with RDS
TIP: represents mesenteric
ischemia in adult
Necrotising Enterocolitis (NEC) - Clinical Features (5)
- Gastric retention
- Bilious vomiting
- Ileus
- Abdominal distension
- Bloody stools – red currant
Necrotising Enterocolitis (NEC) - Diagnosis (2)
- Abdominal X-Ray => Dilated bowel loops
- Pneumatosis intestinalis
Necrotising Enterocolitis (NEC) - Management (2)
Gastric decompression & IV fluids
Surgery for perforation, Clinical deterioration, metabolic acidosis (ischemia)
Necrotising enterocolitis -
Investigations and diagnosis
Laboratory investigations:
Baseline blood tests (FBC, CRP): CRP may be raised and there may be** thrombocytopenia and neutropenia.**
Blood cultures: non-specific in NEC and are commonly reported as negative. However, if a bacterial, viral or fungal agent is isolated this
can be useful for guiding treatment.
Blood gas: may show a raised lactate
or acidosis.
Imaging
Abdominal ultrasound: ultrasound is a safe first choice of imaging due to the lack of exposure to ionising radiation. Signs that are indicative of NEC include air in the portal system, ascites and perforation.
** Abdominal X-ray**: may show thickening of the bowel wall, dilated bowel loops filled with gas and distended bowel.
If the bowel has perforated, Rigler’s sign may be visible. This occurs when both sides of the bowel wall are visible due to the presence of gas inside the lumen and within the peritoneal cavity.
Pyloric Stenosis GENERAL FEATURES
Symptoms presents at 2 - 6 weeks of age
Clinical features:
* Projectile vomiting
* Baby appears HUNGRY
* FTT
* Visible gastric peristalsis
* Pyloric mass (olive-shaped)
Pyloric Stenosis - Diagnosis (3):
First: Palpation during test feed
USG
FBE, electrolytes, ABGs.
Pyloric Stenosis - Metabolic Complications:
Loss of H2O and HCl
Dehydration causes conservation of H2O and Na+ in exchange for H+ and K+
Result: Hypovolemia, metabolic alkalosis
Pyloric Stenosis - Management:
Shock: NS 20 ml/kg
IV Fluid replacement: 0.45% NS + 5% Dextrose
Potassium replacement once baby passes urine (KCl)
Surgery: Refer for Pyloromyotomy
Good prognosis
Transoesophageal atresia GENERAL FEATURES
Vomiting from first feeding
As the narrowing is above the level of the biliary duct, the vomit would also appear the same color as the milk ingested.
GORD GENERAL FEATURES
- Peaks at 4 months
- Self-limiting – usually resolves by 18 months
Clinical features:
* Irritability
* Crying
* Milky vomitus
* Spontaneous effortless regurgitation of gastric contents
Intussusception GENERAL FEATURES / AGE / Clinical Presentations:
Invagination of the proximal segment of bowel into the distal bowel lumen.
The commonest is segment of ileum
colon through the ileocecal valve.
Most common age: 3m - 1yo.
HSP kid or teen w/ skin
Preutz-Jeger px – at any age
Clinical Presentation:
* Intermittent abdominal pain which is colicky, and severe. The child may draw up the legs.
* Episodic 2-3 times/hour, increasing over next 12-24 hours.
* Pallor and lethargy - Vomiting
* Diarrhoea- blood or mucus - classic red currant jelly stool is a late sign
Intussusception - Management (Long Answer):
MX
On PE: Abdominal mass - sausage shaped mass RUQ or crossing midline in epigastrium or behind umbilicus, palpable in about 60% of children and signs of an acute bowel obstruction will be present.
* Plain abdominal Xray is the 1st step in Dx:
* Target sign - 2 concentric circular radiolucent lines usually in the right upper quadrant or Crescent sign - a crescent shaped lucency usually in the left upper quadrant with a soft tissue mass
* Ultrasound scan next step in Dx – also preferred in HSP Abd pain.
* Barium or Air enema: best step - is both diagnostic and therapeutic, as long as there is a paeds surgical team available on site as there is a risk of perforation.
Mx plan:
Gas or barium enema only in a setting where there is a pediatric
surgeon available in case of perforation.
Hydrostatic reduction under USG.
Surgery: If enema failed, peritonitis or septicemia
Neonatal Lupus - Clinical Features (2):
- BradIcardia (AV block) in newborn.
- Mums with primary Sjogren or undifferentiated SLE
Neonatal Lupus - Investigation:
AntiRo antibodies
Ophthalmia Neonatorum (Neonatal conjunctivitis) - (2):
- Gonorrhoea
- Most dangerous.
- Complication: Corneal perforation.
- Presentation: 1-5d after birth.
- Tx: IV Cefotaxime for 7d. - Chlamydia:
- Most common
- Presentation: 10- 14d after birth.
- Tx: Erythromycin for 21d + eye toilet
Blocked Naso-Lacrimal Duct - Clinical Features (4)
- Mucopurulent discharge
- Watery eye
- Worse on waking
- Conjunctiva not inflamed
Blocked Naso-Lacrimal Duct - Treatment Acute (1):
- Acute: Birth-neonates: Immediate
referral
Blocked Naso-Lacrimal Duct - Treatment Chronic 2-12mm (4):
- Massage the nasolacrimal sac
- Wash with salt water
- Warm compress
- Chloramphenicol drops until tears
clear
Umbilical Granuloma - Clinical features (4):
- Umbilical mass in neonates
- Swelling
- Non-mucopurulent discharge
- The cord is swollen and pink
Umbilical Granuloma - Treatment (2):
1st: Salt
2nd: Silver Nitrate for 5 days
Umbilical Discharge: Omphalomesenteric duct anomalies Differential diagnoses
CA
Urine discharge
Differential diagnoses:
Fistula
Urachal cyst
Umbilical calculus
Patent urachus
Umbilical Discharge: Omphalomesenteric duct anomalies INVESTIGATIONS (2)
- Creatinine and urea levels from discharge -> confirm it’s a urinary discharge
- U/S: Rule out patent urachus
Umbilical Discharge: Omphalomesenteric duct anomalies Management
Clean debris
Apply dressing (wound)
Swab for culture and sensitivity A/B
Refer for surgical correction
Umbilical Discharge: Omphalomesenteric duct anomalies COMPLICATIONS (4)
Urinary Tract Infection (UTI) (especially in the case of full patency and bladder diverticulum)
Cyst infection
Abdominal pain
Haematuria
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.
Umbilical Discharge: Omphalitis Risk factors (5)
Unplanned home birth or septic delivery
Low birth weight
Prolonged rupture of membranes (PROM)
Umbilical catheterization
Chorioamnionitis
Umbilical Discharge: Omphalitis MOST COMMON BACTERIA
Staphylococcus aureus (MCC)
Streptococci group A and group B
Gram-negative bacilli
Umbilical Discharge: Omphalitis Management and ATB Treatment
- Admission
*Septic workup
- Cultures (including dry swab of the discharge)
- IV antibiotics:
<1 month: Refer to neonatal
> 1 month: Flucloxacillin OR Gentamicin
Umbilical Hernia Clinical Features
Soft swelling, varying in size, of the
umbilical area – usually easily reduced.
More prominent during coughing, crying, or straining and could
became larger in the first 6 months of life.
Presentation:
- Most cases are asymptomatic.
- Incarcerated or strangulated umbilical hernias are extremely rare.
Umbilical Hernia Risk factors (5)
- Prematurity
- Low birth weight
- African descent
- Congenital Hypotiroidism
- Certain syndromes: Patau (13), Edwards’ (18), and Down syndrome (21).
Umbilical Hernia Treatment (Asymptomatic & Symptomatic)
Asymptomatic:
Observation until 4-5 years of age is preferred since the closure of the umbilical ring is complete in most children by the age of 5-6 years old.
Symptomatic: SURGERY
Incarceration (Firm, irreducible, tender, red, associated with vomiting)
or
Very large/persistently growing hernias
NOTE: Surgical correction in children < 4 years old has a higher complication
Spontaneous closure is less likely in cases of a hernia >1.5 cm, older age, underlying predisposing condition
(e.g. Ehlers Danlos syndrome).
Balanitis (Infection of the foreskin) - Clinical features (3):
- Swelling
- White exudate
- Redness
Balanitis Treatment (3):
- Local penile toilet
- Mupirocin
- Penis shaft skin swollen to the pubis = IV atbs
Phimosis Clinical Features:
Scarring of preputial opening. Tight ring or “rubber band” of foreskin around the tip of the penis, preventing full retraction.
Phimosis Treatment (2):
- Mild: Steroid topical cream
- Severe: Circumcision
Circumcision Indications (2):
Phimosis & balanitis
Absolute CI: Hypospadias
Circumcision Treatment:
Dorsal penile nerve block
Botulism Clinical features (6):
- Dysarthria (MC symptom)
- Descending paralysis
- Low reflexes
- Dry mouth
- Blurry vision
- Urinary retention
Botulism Best Investigation:
- Blood test for toxin
Botulism Management (2):
- Antitoxin
- Notifiable disease
Nephroblastoma (Wilms Tumour) Clinical features (3):
- 2 to 5 years old
- Does not cross the midline
- Asymptomatic abdominal mass (maybe abdominal pain, HTA, and gross hematuria)
Nephroblastoma (Wilms Tumour) Next Investigation
Ultrasound
Nephroblastoma (Wilms Tumour) Best Investigation:
Best Investigation: CT/MRI to stage
Nephroblastoma (Wilms Tumour) Treatment:
Nephrectomy + Chemo
Neuroblastoma Clinical features (5):
- < 2 years old
- Crosses the midline
- Painful abdominal mass (adrenal medulla)
- Racoon eyes (retroorbital metastasis)
- Associated with Horner syndrome (cervical ganglia)
Neuroblastoma Next Investigation:
Bone Scan
Neuroblastoma Best Investigation: CT/MRI
CT/MRI
Neuroblastoma Treatment:
Qx + chemo and radio
Hepatoblastoma Clinical features (3):
- < 5years old
- Abdominal mass with intermittent abdominal pain
- Hx of Familial adenomatous polyposis (FAP)
Hepatoblastoma Best Investigation:
CT/MRI
Hepatoblastoma Treatment:
Chemo
Hereditary Angioedema
Autosomal dominant
Clinical features:
1. Edema in:
- Respiratory tract (cough)
- Eyelids (swelling)
- Intestines (abd pain)
- The attacks last 2 to 5 days, usually slowly increasing. Are preceded by prodromal symptoms, including a rash (erythema marginatum)
- Triggers: Trauma, infections, stress or procedures, ACE inhibitors, and estrogens.
Hereditary Angioedema First Investigation:
Complement test (Low C3 & C4)
Hereditary Angioedema Best Investigation:
C1-inhibitor protein (low) and function
Mongolian spots (Dermal Melanocytosis) Clinical features
Bluish grey lesion in buttocks,
lower back, extensor surfaces of extremities.
Common in black, Asian, and Latin kids.
Disappears by 1- 2 years old
Strawberry Tongue Causes (4)
- Kawasaki Disease
- Scarlet fever
- Allergies
- Toxic shock syndrome (associated with tampons, diaphragms, skin inf, pneumonia, osteomyelitis)
Strawberry Tongue Investigation
Toxic shock syndrome: S. Aureus TSS1-toxin
Cystic fibrosis Clinical features
Autosomal Recessive
Defects in the ion protein channel
CFTR.
Viscoid secretions in the lungs, pancreas, and gut.
Clinical features:
- Meconium Ileus
- Prolonged neonatal jaundice
- Failure to thrive and poor weight gain
- Chronic lung diseases
- Bronchiectasis
- Fat globules on feces examination (Diff from fatty crystals in celiac and CMPA)
- Vas deferens atrophy
- Increase sweat
CI: Hyponatremic, hypochloremic, metabolic alkalosis
Cystic fibrosis Investigations
- Newborns: Heel Prick
test. - If (-) but parental
concern: Do test for gene
mutations:
1 mutation: Sweat chloride
test. If (+) CF clinic, if (-) healthy carrier
≥2 mutations: CF clinic
Cystic fibrosis Treatment (2)
- Fix nutritional deficiencies: High-calorie and high-fat diets with supplemental fat-soluble vitamins to compensate for malabsorption and maintain a healthy weight.
- Minimize chest infections.
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
Caries in kids Clinical Features
Adult teeth replace baby teeth between 6-12yo
Caries in kids Management
- Babies and toddlers: brush teeth 2x/day
- 18m-6y: brush with LOW fluoride toothpaste
Enuresis Clinical Features:
- Daytime control: 4yo
- Nighttime control: ≥7yo
- Primary: Never was dried
- Sec: Dried for 6m and wet again
MCC: Bladder infection
Enuresis Management (3):
- Urotherapy: Increasing daytime fluid intake (50 ml/kg/day). Regular voiding every 2–3 hours.
- Bedwetting Alarm: Start from 7yo.
Do for 6-8w, overlearn for 2w more. - Desmopressin: If the kid is going to school camp, prefer oral or sublingual. Is not recommended because of the high risk of HypoNa.
Male puberty
Pubertal Changes Secuence:
- Enlargement of testes & scrotum (>2.5cm or >4ml)
- Pubic hair (6 m)
- Lengthening of penis (12 - 18 m)
- Axillary hair > medial thigh hair and Growth spurt. Deepening of the voice (2 y after initial signs of puberty)
TANNER STAGES
Stage 1: kid (< 9 yo)
Stage 2: scrotal and testicular growth (9 -11 yo)
Stage 3: gynaecomastia and voice break (11 - 13 yo)
Stage 4: Axillary hair and acne (13 - 15 yo)
Stage 5: Adult (> 15 yo)
Delayed: >14 yo (testis and axillary hair) Ix: Bone age
Preconscious: 9.5 yo
1st Ix: FSH and LH
2nd Ix: MRI of brain
Management: Refer to the endocrinologist
Females Puberty
Pubertal Changes Secuence:
- Boobs
- Grow
- Pubes
- Flow
TANNER STAGES
Stage 1 Telarche: 2 y till menarche
Stage 2 Adrenarche: Axillary and pubic hair, body odor (9 -11 yo)
Stage 3: Menarche (11 - 13 yo)
Stage 4: Pubic hair (13 - 15 yo)
Stage 5: Adult (> 15 yo)
Delayed: > 13 -14 yo (Bubs, axillary and pubic hair)
1st Ix: Bone age
Preconscious: < 8 yo
1st Ix: FSH and LH
2nd MRI of brain
Management:
1. If only isolated growth public hair
< 8yo: Follow up in 6 months
- Refer to the endocrinologist
Short stature Clinical Features
- Males <1.62 Females <1.52
- If constitutional delay BA<CA (Bone Age less than chronological age)
Short stature Investigations
- Bone age x-ray (left hand wrist)
- TFT, LFT, IGF-1
Short stature Management
GH Tx only if height<1st centile for age, or Growth velocity <25th centile
Sexual abuse Clinical Features
- Clinical features: guilt, anger, sexual behavior with other kids, unexplained physical symptoms, sleep disturbance, poor school performance.
- Org dx: Chlamydis, syphilis, gonorrhea, and HIV.
Sexual abuse Investigations
- Prepubertal: Visual examination
- Postpubertal: Speculum
Sexual abuse Management
Refer to CPS
Tourette Sx - Clinical features (6)
- Blinking
- Eye twitch
- Facial grimacing
- Shoulder shrugging with sniffing
- Coprolalia
- Echolalia
Tourette Sx - Management (2)
- Behavioural therapy
- Risperidone
Prodrome Schizophrenia Clinical features:
Difficulty concentrating, social withdrawal, decline in school performance, becoming superstitious
Breath Holding Spell Clinical features:
1-3yo
Frustration->breath hold-> cyanosis ->LOC
DD: In seizures it’s LOC->Cyanosis
Breath Holding Spell Management:
Behavioural therapy
Attention Deficit Hyperactivity Disorder (ADHD) Clinical Features: (4)
- Child 4 - 7yo (NO <2yo)
- Most common in boys
- Social, academic, and occupational impairment
- Slurred speech
Attention Deficit Hyperactivity Disorder (ADHD) - Assessment (3)
- School reports
- Psychoeducational Assessment
- Audiology - vision Assessment
Attention Deficit Hyperactivity Disorder (ADHD) - Management (2)
- Behavioral modification
- Methylphenidate (MOA: inhibition of Dopamine and NE reuptake). If bad compliance use the slow release
Autism Clinical Features (3):
- Low inteligence
- Bad social interaction and communication
- Repetitive stereotype behaviors - - - Enjoys being alone
Autism Management:
Risperidone (if aggressive)
Asperger’s syndrome Clinical Features (3)
- Normal to superior intelligence
- Impaired social and communication skills
- Seek friendships
Asperger’s syndrome Management:
Behavioral therapy
Oppositional Defiant Disorder Clinical Features:
- Since > 6 m
-Defiant, negative, and disobedient. - Hostile behavior toward authority figures that are present
- Interfere with academic, social, and occupational functioning
- No violent or aggressive behaviour
Oppositional Defiant Disorder Management:
Best: Family therapy
Conduct Disorder Clinical Features:
<18yo
Violation of rules, theft, destruction of property, aggression cruelty toward people and animals
Night terrors Clinical Features:
Child 5-7yo.
Wakes up, cannot be consoled by parents, cannot remember anything the day after
Night terrors Management
Family reassurance
Obstructive sleep apnea (OSA) Clinical Features (4):
- Daytime sleepiness
- Disturbed sleep
- HTN
- Narcolepsy
Obstructive sleep apnea (OSA) Best Investigation:
Polysomnography
Obstructive sleep apnea (OSA) Management (4):
- Adenotonsillectomy
- Weight loss
- IN steroids for rhinitis
- CPAP
Slipped Capital Femoral Epiphysis (SCFE) Clinical Features (5):
- Obese pre or adolescent
- Atraumatic hip, thigh, or knee (medial obturator nerve) pain
- Limping
- Inability to bear weight
- Limited internal rotation (Drehmann sign)
Slipped Capital Femoral Epiphysis (SCFE) Risk Factors (4):
- Obesity
- Male sex
- Periods of rapid growth
- Prior radiation therapy
Slipped Capital Femoral Epiphysis (SCFE) Investigation:
Hip XR AP and frog-leg lateral views
Slipped Capital Femoral Epiphysis (SCFE) Management:
Surgical: Open Reduction and Internal Fixation
Slipped Capital Femoral Epiphysis (SCFE) Complication:
Femoral head osteonecrosis
Developmental dysplasia of the hip (DDH) Clinical Features (5):
- Barlow maneuver: Gentle ABDUCT and “Hip clicks”
- Ortolani maneuver: ADDUCT the hip DD: In dislocated hip: jerk or clunk
- Trendelenburg gait
- Toe walking
- Leg length discrepancies
Developmental dysplasia of the hip (DDH) Risk Factors (7):
- Breech position (most significant)
- Female sex
- Family history
- Oligohydramnios
- Multiple pregnancy (twins)
- Delivery by C-Section
- Large for gestational age (LGA)
Developmental dysplasia of the hip (DDH) Screening:
US 3–4 months
Developmental dysplasia of the hip (DDH) Investigation:
X-ray: AP of the pelvis
Developmental dysplasia of the hip (DDH) Management:
< 18 m: Hip spica cast (close reduction) Complication: Avascular necrosis of the femoral head.
> 18 m: Surgery, Open reduction.
Perthes Disease - Definition & Clinical Features
Idiopathic avascular necrosis of the capital femoral epiphysis of the femoral head
- Male (MC) between 4 - 9 yo
- Limping
- Pain localized to the hip or referred to the knee or thigh
- Limited abduction and internal rotation
- Asoc w/ coagulopathies (Haemophilia)
Perthes Disease - Investigation
US: Widening of joint space (epiphyseal cartilage hypertrophy)
X-ray: AP of the pelvis ????
Perthes Disease - Management
Immobilize and refer immediately
Transient Synovitis Clinical Features:
- Age: 3 - 8 yo (MC 6 yo)
- Male sex
- Fever (30%)
- Unilateral hip pain and limping.
- Refusal to bear weight.
- Presentation with the hip flexed, abducted, and externally rotated.
- PE: Limited abduction and internal rotation, Patrick test (Pain on the ipsilateral anterior side)
- Preceding: URTI, trauma, or bacterial infection (post-streptococcal toxic synovitis)
Transient Synovitis First Investigation:
Rule out Septic Arthritis
1. WBC, CRP, ESR
2. Hip X-ray
Transient Synovitis Best Investigation:
US w/ join aspiration:
Diagnostic and therapeutic. Intracapsular effusion.
SA:
- Positive gram stain
- PMN > 90%
- glucose < 40 mg/dL
Transient Synovitis Management:
supportive care and rest from activity.
NSAIDs can be used forpaincontrol.
Complete resolution of symptoms often takes up to 1to2weeks (sometimes within 48 hours) <3
Foot Deformity
NORMAL:
- 0-1y: Metatarsus varus
- 1-3y: Internal tibial torsion
- 5-6yr: Medial femoral torsion
List 3 Acyanotic + 3 Cyanotic Congenital Heart Diseases
Acyanotic {Left to the right}
1. VSD - Ventricular Septal Defect*
2. ASD - Atrial Septal Defect
3. PDA - Patent Ductus Arteriosus
Cyanotic {Right to the left}
1. TOF - Tetralogy of Fallot
2. HLHD - Hypoplastic Left Heart Dx
3. TGV - Transposition of the great vessels
Congenital Heart Disease: VSD - Details & Clinical Features: Hint: different sizes may have varying clinical features
Most common congenital heart disease.
Asoc w/ Turner Sx
Presentation age: Infant 5 to 6 weeks
Clinical Features:
2-3/6 harsh holosystolic murmur heard along the LSB more prominent with small VSD and absent with very Large VSD
SMALL - Moderate: 3-6mm
- Asymptomatic
- 50% will close spontaneously at 2y
Mod - LARGE
- Symptomatic & require Sx repair
- SOB with feeding & crying
- Recurrent chest infections
- Heart failure from 3 months of age
- FTT
Congenital Heart Disease: VSD - Management & Indications for Surgical Closure:
- Small VSD: No physical restrictions, reassurance, periodic follow-up & endocarditis prophylaxis.
- Symptomatic VSD: Medical treatment initially with afterload reducers & diuretics.
- Indications for Surgical Closure:
Large VSD w/ medically uncontrolled symptomatology &
continued FTT.
Ages 6-12 mo w/ large VSD & Pulmonary HT
Congenital Heart Disease: ASD - Details & Clinical Features:
Secundum ASD – Fossa Ovalis, most common
Primum ASD – lower in position, more serious
Clinical Features:
- Initial: NO MURMUR
- PS: Systolic ejection murmur - LSB
- RV heave.
- Fixed widely split S2 (Ao then Pulm Valve closes)
- Asymptomatic or easy fatigability or mild growth failure.
High risk of developing right heart failure with pulmonary HT
Congenital Heart Disease: ASD - Management:
- Surgical or device closure for Secundum ASD
- Closure performed between ages 2 & 5 years
- Sx correction is done earlier in children w/ CHF or significant
pulmonary HTN.
NOT Endocarditis prophylaxis
Congenital Heart Disease: PDA - Details & Clinical Features:
- Persistence of the Ductus Arteriosus (PA to the Aorta)
- Normally closes in the 1st wk of life.
- Associated with Turner Sx
- Associated with Ao coarctation, VSD, and TORCH inf Rubella!!)
Clinical Features:
- Continuous machinery systolic murmur: Gibson Murmur
- Small PDA: Asymptomatic
- Large PDA: CHF, growth restriction, and FTT.
Congenital Heart Disease: PDA - Management:
- Indomethacin
- Surgical: Ligation or catheter closure by insertion of a device or embolization coils.
Congenital Heart Disease: TOF - Details & Clinical Features:
Most common cyanotic CHD
- Pulmonary stenosis (1st worse)
- VSD (2nd worse)
- Overriding Ao
- Right ventricular hypertrophy
Clinical Features:
- Cyanosis after the neonatal period (4m approx) and progressive
- Clubbing fingers(Scharmoth’s sing)
- Hypoxemic spells (“Tet spells”)
- Systolic ejection murmur - LSB (PS)
Congenital Heart Disease: TOF - Management:
Corrective Sx at about 6 months
Congenital Heart Disease: HLHD (3)
- LV and aorta are abnormally small (hypoplastic).
- Early days (2-7d) of life & need urgent Sx to survive.
- HLH is dependent on PDA for survival
Congenital Heart Disease: TGV
The aorta arises from the RV & receives “blue” blood, whilst the Pulmonary Artery arises from the LV.
Immediately after birth, and needs urgent treatment.
Survival depends on the PDA or the FO remaining open in the early days of life until treatment.
TGV Management
- The FO can be enlarged with a catheter procedure, called Balloon
- Septostomy
TGV 1st Investigation & Diagnosis
Hyperoxia Test:
ABG after 100% oxygen for 10 minutes. PaO2 will remain low & not rise
Hyperoxia Test: Differences between Acyanotic CHD & TGV
TGV: ABG after 100% oxygen for 10 minutes. PaO2 will remain low & not rise
◦ Pulmonary disease (not cyanotic CHD) is suspected if the PaO2 increases to more than 150 mm Hg with oxygen.
Cerebral Palsy
Clinical features: Persistent and non-progressive.
- Delayed motor milestones
- Unexplained irritability
- Muscle tone abnormalities:
- Stiffness (most common) or Floppy
- Preference for one side of the body
Differentiate from spinal muscular atrophy (SMA): Intelligence is
unaffected
Pain in Kids Treatment Protocol
- Paracetamol
- NSAIDs
- Oxycodone
- IN Fentanyl
CI: Codeine<18yo because can cause respiratory depression
Aspirin in Children Indications (3)
o Kawasaki
o Rheumatic fever
o Juvenile rheumatic arthritis
(otherwise, always Paracetamol)
Infective Diseases School Exclusion
Down syndrome CLINICAL FEATURES
typical facies + hypotonia + single palmar crease
Down syndrome (trisomy 21) is based on typical facial features (flat facies, slanting eyes, prominent epicanthic folds, small ears), hypotonia, intellectual disability, and a single palmar crease.
Down Syndrome: Associated disorders (8)
- Seizures (usually later onset)
- Impaired hearing
- Leukaemia
- Hypothyroidism
- Congenital anomalies (e.g. heart, duodenal atresia, Hirschsprung, TOF) Alzheimer-like dementia (fourth–fifth decade)
- Atlantoaxial instability
- Coeliac disease
- Diabetes
CHARGE syndrome CLINICAL FEATURES
chromosome 8
Coloboma
Heart abnormalities
Choanal atresia
Development retardation
GU anomalies
Ear abnormalities
Edward syndrome CLINICAL FEATURES (4)
Trisomy 18
- Microcephaly
- Facial abnormalities, e.g. cleft lip/palate
- Malformations of major organs, e.g. heart
- Malformations of hands and feet—clenched hand posture neural tube defect
Prognosis is poor—about one-third die in first month, <10% live beyond 12 months.
Prenatal diagnosis is available.
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.
Fragile X syndrome (FXS) CLINICAL FEATURES
characteristic facies + intellectual disability + large testes
Large prominent ears
Long narrow face
Macro-orchidism
Intellectual disability.
Most common inherited cause known of developmental disability
M:F ratio 2:1
Females may appear normal but may be affected
Variable spectrum of characteristic features, making detection difficult
Fragile X syndrome (FXS): Associated disorders (9)
X chromosome
Intellectual disability (IQ <70)
Autism or autistic-like behaviour
Attention deficit in 10% (with or without hyperactivity)
Seizures (20%)
Connective tissue abnormalities
Learning disability and speech delay
Coordination difficulty
Primary ovarian insufficiency
Late-onset tremor/ataxia syndrome
Big testis
Long Face
Strabismus
Flat feet
Hypotonia
Prader–Willi syndrome Clinical features
neonatal hypotonia + failure to thrive + obesity (later)
chromosome 15
Hypotonic infants with weak suction and failure to thrive, then voracious appetite causing morbid obesity
Usually manifests at 3 years
Intellectual disability
Narrow forehead and turned-down mouth
Small hands and feet
Hypogonadism
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.
Marfan syndrome Clinical Features (8)
tall stature + dislocated lens and myopia + aortic root dilatation
- Disproportionally tall and thin
- Long digits—arachnodactyly
- Kyphoscoliosis
- Joint laxity (e.g. genu recurvatum)
- Myopia and ectopic ocular lens
- High arched palate
- Aortic dilatation and dissection
- Mitral valve prolapse
If untreated, death in the 30s and 40s is common
Chromosome 15 Autosomal dominant
Noonan syndrome: Clinical features
facies + short stature + pulmonary stenosis
chromosome 11
- Characteristic facies—down-slanting palpebral fissures, widespread eyes, low-set ears ± ptosis
- Short stature
- Pulmonary valve stenosis
- Webbed neck
- Failure to thrive, usually mild
- Abnormalities of cardiac conduction and rhythm ± Intellectual disability
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)
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)
Klinefelter syndrome Diagnosis
Increased gonadotrophin
Low to normal testosterone
Klinefelter syndrome Treatment
Transdermal testosterone
Turner syndrome (gonadal dysgenesis)
short stature + webbed neck + facies
- Short stature—average adult height 143 cm
- Primary amenorrhoea in XO patient; infertility
- Webbing of neck
- Typical facies: micrognathia, low hairline
- Lymphoedema of extremities
- Cardiac defects (e.g. coarctation of aorta)
Mental deficiency is rare.
99% of conceptions are miscarried
Turner syndrome (gonadal dysgenesis) Treatment
Hormone-based (e.g. growth hormone, hormone replacement therapy)
Turner syndrome (gonadal dysgenesis) Genetic profile
45 chromosomes of XO karyotype (typical Turner karyotype in 50% of cases)
Many are mosaics (45X/46XX)
Alagille Syndrome CLINICAL FEATURES
DiGeorge Syndrome CLINICAL FEATURES
Lesch-Nyhan Syndrome CLINICAL FEATURES (6)
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
Peutz-Jeghers Syndrome GENERAL FEATURES
Autosomal dominant Chromosome 19
Intestinal polyposis syndrome
Peutz-Jeghers Syndrome Clinical Features:
Hamartomatous polyps in the gastrointestinal tract
Hyperpigmented macules on the lips and oral mucosa (melanosis) - appear before 5 years of age
Peutz-Jeghers Syndrome Complications:
Intrussusception
Substantial risk of cancer, especially of the breast and gastrointestinal tracts. Colorectal is the most common malignancy.
DD: Addison’s disease
Peutz-Jeghers Syndrome First Investigations:
Barium enema radiograph showing multiple polyps (mostly pedunculated) and at least one large mass at the hepatic flexure coated with contrast in a patient with Peutz–Jeghers syndrome
Some suggestions for surveillance for cancer include the following…
Peutz-Jeghers Syndrome Best Investigations:
Colonoscopy + Biopsy
Peutz-Jeghers Syndrome Monitoring:
Small intestine with small bowel radiography every two years
Esophagogastroduodenoscopy and colonoscopy every two years
CT scan or MRI of the pancreas yearly
Ultrasound of the pelvis and testes yearly
Mammography from age 25 annually
Papanicolaou smear (Pap smear) annually beginning at age 18–20
