Paediatrics Flashcards
X-linked agammaglobulinemia (XLA)
- Inheritance pattern
- Gene affected
- Pathophysiology
- Treatment
X-linked recessive primary immunodeficiency syndrome caused by a mutation in the B-cell tyrosine kinase (BTK) gene, which results in arrested B cell development and agammaglobulinema causing antibody deficiency and recurrent infection.
Also causes hypoplastic tonsils.
Tx: Ig therapy
Contraindications to Rotavirus vaccine?
- Intussusception
- Abdominal disorders
Contraindications to TdaP-IPV?
- Anaphylaxis to streptomycin/neomycin
- Neurological disease
Which allergy is a contraindication to influenza vaccine?
Egg allergy
Developmental red flags (6)
- Not walking by 18mo, rolling too early <3mo
- Hand preference <18mo
- Less than 6 words at 18mo
- Not smiling at 4mo
- Not pointing at 15-18mo
- Regression of previous skills
Oral candidiasis treatment
Nystatin
Infant colic
Unexplained paroxysms of irritability
Management:
1. Reassurance
2. Change feeding technique
3. Eliminate allergens from breastfeeding mother’s diet
Primary dentition
20 teeth
First tooth at 5-9months
Enuresis
Involuntary urinary incontinence >5 years
Primary nocturnal enuresis
Management:
1. Lifestyle modification
2. “wet” alarm
3. Consider desmopressin, imipramine if >7yo
Faecal impaction
Treatment:
1. Complete bowel emptying with laxative - PEG 3350
2. Maintenance treatment
Definition of failure to thrive (FTT)
Growth failure in either height or weight during childhood
Clinical signs of FTT
SMALL KID
Subcutaneous fat loss
Muscle atrophy
Alopecia
Lethargy
Lagging behind normal
Kwashiorkor
Infections (recurrent)
Dermatitis
Prenatal FTT (Growth pattern and causes)
Growth pattern: decreased height, weight and head circumference
Causes:
Placental insufficiency
Intrauterine infections
Genetic
Maternal
Pre-existing conditions (e.g., diabetes, renal disease)
Use of medications, drugs, tobacco, or alcohol
Postnatal FTT (Causes)
Inadequate calorie intake
Inadequate caloric absorption (e.g., gastroesophageal reflux)
Increased caloric requirements (e.g., hyperthyroid, congenital heart disease)
Social determinants (e.g., poverty, societal disorder)
Adverse childhood experience
Caregiver:
Inadequate feeding skills
Inappropriate food for age
Neglect
Insufficient lactation
Disturbed mother and child relationship
Infant:
Sucking or swallowing dysfunction (e.g., cleft palate)
Chronic disease (e.g., infection, metabolic disorders)
Postnatal FTT (Growth Patterns)
- Decreased weight only
- Suggests low PO intake - Decreased height and weight and normal head circumference
- Suggests dystrophies, endocrine disorder, constitutional delay, familial short stature
SIDS Definition
Sudden death of child <12mo
RFs: prematurity, sleeping prone, low birthweight, ETOH (mother in utero), indigenous, smoking in household,
Adolescent History (HEEADSSS)
Home
Education/ Employment
Eating
Activities
Drugs
Sex/sexuality
Suicide and depression
Safety/ violence
What is the age of consent?
16yo
Close age exceptions:
14-15yo can consent if partner is <5 years older
12-13yo can consent if partner is <2 years older
Not consensual if partner is in a position of authority or the young person is dependent on the partner
Child Abuse
Physical abuse
Sexual abuse/exploitation (sex trafficking)
Emotional/mental abuse
Neglect
Child marriage
Forced/exploitative labour (human trafficking)
Criminal activities (e.g., drug trade, theft)
Suspicious injury: (6)
- Bruising - abdomen, buttocks, genitalia, cheek or ears, neck or feet
- Fractures - posterior ribs, metaphyseal, scapular, vertebral, sternal
- Immersion burns
- Frenulum tear
- Retinal haemorrhage
- Bruising in babies not yet cruising
Suspicion of sexual abuse (8)
- Recurrent UTI
- Pregnancy
- STIs
- PV bleeding
- Vaginitis
- Pain
- Genital injury
- Enuresis
Prenatal circulation
Placenta - Umbilical vein - Ductus venosus - IVC - R atrium - Foramen ovale - L atrium - L ventricle - Aorta - Brain/ myocardium - SVC - Ductus arteriosus - Aorta - Systemic circulation - Placenta
What does the ductus arteriosus connect?
Pulmonary arteries to aorta (bypass the lungs)
What does the ductus venosus connect?
Umbilical vein and IVC (bypass the liver)
What does the foramen ovale connect?
Right atrium and left atrium
What happens when a baby takes its first breath?
Reduces pulmonary vascular resistance - opening of the alveoli, shunts shut, assume normal system blood flow
Acynotic heart diseases
Left to right shunt lesions
- ASD
- VSD
4.PDA
Obstructive lesions:
1. Coarctation of aorta
2. Aortic stenosis
3. Pulmonary stenosis
Atrial septal defect
Features: often asymptomatic, pulmonic outflow murmur, may have signs of HF on CXR
Tx: elective surgery, if hole <8mm may spontaneously close
Ventricular septal defect
Features: asymptomatic, holosystolic murmur heard at left lower sternal border, thrill
Most close spontaneously
Patent ductus arteriosus
Patent shunt between left pulmonary artery and aorta
Features: may be asymptomatic or have apnoeic episodes
Management: indomethacin - inhibits prostaglandins, surgical closure
Coarctation of the aorta
Narrowing of the aorta
Management: prostaglandins to keep PDA patent for stabilisation and then surgery
Cynotic heart diseases
- Tetralogy of Fallot
- Transposition of Great Arteries
- Hypoplastic left heart syndrome
Tetralogy of Fallot
Ventricular septal defect, overriding aorta, pulmonary stenosis and right ventricular hypertrophy
Features and management of ToF
CF: hypoxic spells, cyanosis, R-L shunt causing hypoxemia
Management: surgical repair
Transposition of Great Arteries
Switching place of pulmonary artery and aorta
Management: prostaglandins, surgery
Hypoplastic left heart syndrome
LV hypoplasia, mitral or aortic valve defect, coarctation of aorta, small ascending aorta
Upon closure of ducts presents with circulatory shock and metabolic acidosis
Ebstein’s anomaly
Defect in RA and tricuspid valve
Associated with lithium use during pregnancy
Congestive Heart Failure - Key Features (4)
- Tacchy
- High RR
- Cardiomegaly
- Hepatomegaly
Signs of innocent murmur?
Asymptomatic, soft, systolic, short duration
Peripheral Pulmonic Stenosis (innocent)
Aetiology: flow into the pulmonary branch arteries
Location: left upper sternal border
Timing: ejection systolic
Age: neonates
Differentials: PDA, Pulmonary stenosis
Still’s Murmur (innocent)
Aetiology: across pulmonic valve leaflets
Location: left lower sternal border, radiates to axilla/back
Timing: ejection systolic
Age: 3-6 years
Venous Hum (innocent)
Aetiology: altered flow in veins
Location: infraclavicular R>L
Timing: continuous
Age: 3-6 years
Pulmonary flow
Aetiology: flow through pulmonic valve
Location: left upper sternal border
Timing: ejection systolic, soft blowing
Age: 8-14 years
Supraclavicular Arterial Bruit
Aetiology: turbulent flow in carotid arteries
Location: supraclavicular
Timing: ejection systolic
Age: any
Global Development Delay - definition
Significant delay in at least two developmental domains
Developmental domains (6)
- Gross motor
- Fine motor
- Speech/ language
- Social
- Cognitive
- ADLs
IQ in intellectual disability?
IQ <70
Foetal Alcohol Spectrum Disorder
Spectrum including FAS, partial FAS, Alcohol related birth defects, alcohol related neurodevelopmental disorder
Foetal alcohol syndrome - diagnostic features
- Presence of facial features (can be absent)
- Maternal ETOH consumption confirmed or unknown
- Evidence of neurodevelopmental impairment or microcephaly
Sentinel facial features of FAS (3)
- Short palpebral fissures, thin upper lip, flattened philtrum
Diabetes Mellitus Type 1 - Presentation
Polyuria, polydipsia, weight loss. polyphagia, perineal candidiasis, visual disturbances, DKA
Diagnostic criteria DM 1/2
- Symptoms and Random glucose >1
OR
- Two of: fasting glucose >7, OGTT > 11, HbA1c > 6.5%
T1DM Management
- Paed MDT approach
- Diet with consistent levels of carbohydrates
- 60minutes exercise daily
- Blood glucose monitoring
- INSULIN
HbA1c target in diabetes
7%
Management of T2DM
- Lifestyle modification for 3-6 mo
- Metformin (first line)
- Glimeperide (sulfonylurea) or insulin (second lines)
- If glycaemic control not met with metformin add liraglutide with/without basal insulin
- Monitor HbA1c every 3 months
- Annual screening for PCOS and NAFLD
Definition short stature
Height < 3rd percentile
Poor growth (decreased growth velocity)
Short stature management
- No treatment if non-pathological, except idiopathic
- Consider GH therapy (if early age)
Congenital hyperthyroidism
Typically caused by neonatal transfer of TSH receptor antibody
Features: IUGR, low birthweight, microcephaly, premature, tachycardia, frontal bossing, irritability, triangular facies, hepatosplenomegaly, goitre, flushing, sweating
Ix: TSH receptor antibody in 3rd trimester or in cord blood
Neonatal TSH, T3/T4, free T4
Management: methimazole and beta-adrenergic blocker (propranolol)
Congenital hypothyroidism
CF: may be asymptomatic, jaundice, lethargy, constipation, umbilical hernia, macroglossia, puffy face, swollen eyes, hypotonia
Management: thyroxine replacement
Congenital Adrenal Hyperplasia
46 XX genetically
AR disorder affecting cortisol. aldosterone production –> too much androgen
21-OH deficiency presents with salt wasting (high K+, low Na2+), FTT, genital ambiguity, amenorrhea, precocious puberty, POC, hirsuitism
in males: hyperpigmentation, penile enlargement, rapid growth, virilization
Management:
fludrocortisone/ hydrocortisone
Precocious puberty
Puberty <8yo girls, <9yo boys
Central: GnRH dependent hypergonadotropic/hypergonadism –> SHOULD HAVE MRI
Peripheral: GnRH independent
hypogonadotropic hypergonadism
Ix: bone age, hormone panel, TFTs, prolactin, pelvic USS
GnRH agonist: leuprolide (for central)
Delayed Puberty
Failure to develop secondary sex characteristics by 13yo girls and 14yo in boys
Maintenance fluid requirements
- 1-10kg: 100mL/kg/d
- 11-20kg: 1000L + 50ml/kg/d for every kg over 10kg
- > 20kg: 1.5L + 20mL/kg/d for every kg over 20kg
Tracheoesophageal fistula
CF: excessive secretions after birth, inability to feed, cyanosis, vomiting
Ix: XR
Pyloric stenosis
CF: projectile vomiting (non bilious), olive shaped mass, target sign USS
GERD
Regurgitation or vomiting, typically after feeds
Management:
1. thickened/ frequent feeds
2. PPI
Intussusception
CF: sausage shaped mass, red currant jelly stool, signs of obstruction
Ix: AXR for signs of obstruction or perforation or USS
Meckel’s diverticulum
Can cause bleeding and ulceration in small bowel and abdominal sepsis
CF: tenderness and distension, peritonism
Ix: AXR, Meckel scan
Gastroenteritis
- When bacterial?
- Pathogens?
- Management?
Suspect bacterial if severe pain, high fever, bloody stool
Common causes: rotavirus, adenovirus, norovirus
Management: supportive
Toddler’s diarrhoea
CF: 4-6 bowel movements/day, undigested food in stool, diaper rash
Management: self-limiting
Lactose intolerance
- Features
- Diagnosis
CF: chronic, watery diarrhoea, abdominal pain, bloating, cramping
Ix: trial lactose free diet, symptom assessment, lactase deficiency (small bowel biopsy, genetic testing)
Cow’s Milk Allergy
Ix: food challenge (gold standard), skin prick test, serum allergen specific IgE, patch test
Mx: stop exposure
reintroduce at 6-8mo if non-IgE mediated –> normally onset of symptoms hours after consumption
Management of constipation
PEG 3350, fluids, dietary fibre
Hirschsprung’s disease
Associated enterocolitis - can be life threatening –> toxic megacolon and perforation
Ix: AXR, rectal biopsy
Mx: surgical
Physiological anaemia of infancy
Most common cause of anaemia in the neonatal period
Caused by change from relative hypoxic environment in utero and increased EPO levels to
After birth, EPO level falls –> decreased RBC production
Levels RBC rise spontaneously with activation of EPO
Iron deficiency anaemia
Prevention:
iron supplementation 1mg/kg/d
no cow’s milk until 12mo
Management:
diet
oral iron therapy 4-6mg/kg/d
Vitamin K deficiency
Most common <6mo age
Give Vitamin K SC/IV
Immune Thrombocytopenic Anaemia (ITP) Definition
Isolated thrombocytopenia with normal WBC and Hb count
ITP Clinical Features
Normally preceded by viral illness
Sudden onset petechiae, purpura, bleeding in well child
No lymphadenopathy or hepatosplenomegaly
Management of ITP
Mild/ no bleeding - watch and wait
Moderate: IV Ig or steroids
Life threatening: plt transfusion, emergency splenectomy
Most common paediatric cancers (3)
- Leukaemia
- Brain tumours
- Lymphomas
Leukaemia Clinical Features and age on onset
2-5yr in paeds
- Anaemia
- Neutropenia
- Thrombocytopaenia
Fever, weight loss, failure to thrive, easy bruising and bleeding
Lymphoma - age of onset and features
Hodgkin: 15-34/ >50yr
Non Hodgkin: 7-11yr
Painless lymphadenopathy
Enlarging lymph node - non Hodgkin’s
B symptoms
May present with cough/ SOB
Wilm’s Tumour
- age of onset and associated congenital abnormalities
2-5yr
WAGR
Wilm’s
Aniridia (absent iris)
Genitourinary
mental Retardation
Wilm’s Clinical Features, Management and Treatment
Nephroblastoma
Abdominal mass, abdominal pain, HTN, haematuria, UTI, anaemia
Ix: USS, contrast staging CT
Mx: nephrectomy, chemo/radiotherapy
Neuroblastoma
- age of onset
- clinical features
- investigation and management
<1yr life
Most common in the adrenal gland
Symptoms vary depending on site
Ix: MRI or CT
Management: surgery, chemo/radio
Acute Otitis Media (AOM) Criteria (3)
- Middle ear effusion
- Middle ear inflammation
- Acute onset
AOM Causative bacteria
- S. pneumoniae
- H. influenzae
- M catarrhalis
- Group A strep
AOM Clinical features and management
Otalgia, fever, conductive hearing loss
Bulging tympanic membrane
Mx: supportive, antibx if <6mo (amoxicillin)
Otitis Media with effusion
Presence of fluid in the middle ear without infection
Fullness in ear, balance problems, conductive hearing loss, tinnitus
On otoscopy of TM:
discolouration
meniscus fluid level
air bubbles
immobility
Most common cause of paediatric hearing loss?
Otitis Media with effusion
Infectious Mononucleosis
- pathogen
- features
- investigations and mangement
EBV causing systemic viral infection
Prodrome of malaise/ anorexia
Triad: fever, lymphadenopathy, pharyngitis/tonsillitis
Ix: Monospot test, throat culture rule out strep throat
Mx: supportive, avoid contact sports for 6-8 weeks
Score used to assess if throat culture will be positive in tonsillitis
m-CENTOR
Must be >3yr
Cough
Exudate
Nodes
Temperature
Only young
Rarely elderly (-1 if >45yr)
Meningitis - features, investigation and management
Fever, lethargy, irritability, headache, photophobia, N+V, confusion, neck/back pain and stiffness
Ix: LP
Mx: supportive, if suspected bacterial (high neutrophils) then start antibiotics
Bacterial Meningitis versus Viral Meningitis
Bacterial: low lymphocytes, high WCC, low glucose, high protein
Viral: normal-high lymphocytes, low WCC, normal glucose, normal protein
Treatment of bacterial meningitis
0-28d: Ampicillin + cefotaxime
28-90d: cefotaxime + vancomycin
> 90d: Ceftriaxone + vancomycin
Pertussis
Bordetella pertussis: gram negative rod
URTI prodrome
inspiratory whooping cough
Ix: NP culture, bloods
Management: supportive, macrolide antibiotic if <21d onset
Physiological jaundice
Onset 3-4d, resolves by 10d
premature: higher peak, longer duration
Is conjugated hyperbilirubinemia physiological?
No, it is always pathological
Treatment of unconjugated hyperbilirubinemia
Phototherapy blue-green wave length
Biliary atresia
Atresia of extrahepatic bile ducts leading to cholestasis and increased conjugated bilirubin
Dark urine, pale stools, abdominal distension, hepatomegaly
Ix: abdo USS, HIDA scan
Tx: surgical
Necrotizing Enterocolitis
Intestinal inflammation with focal ulceration/ necrosis
CF: diminished bowel sounds, abdo distension, shock, not feeding, bile-stained vomitus
Ix: AXR - intraluminal air
Mx: NBM, IVF, NG T, supportive, antibx (AMG)
Persistent Pulmonary Hypertension of the Newborn
Within 12hr of birth presenting with hypoxia and cyanosis
Management: O2, mechanical ventilation, nitric oxide, surfactant
Meconium aspiration syndrome
Respiratory distress within hours of birth, barrel chest, small airway obstruction
Tx: surfactant, supportive
Transient tachypnoea of the newborn
Often no hypoxia/ cyanosis
Treated supportively
Respiratory distress syndrome in newborn
Surfactant deficiency
Worsening respiratory distress, hypoxia and cyanosis
CXR: homogenous infiltrates, bronchograms
Management: surfactant, ventilatory support
Haemolytic uraemia syndrome triad
- Haemolytic anaemia
- Thrombocytopenia
- Acute renal injury
HUS pathology, clinical features, investigation and management
Toxins causing bloody diarrhoea then enters systemic circulation and the kidneys, formation of plt thrombi
CF: abdo pain and diarrhoea, pallor, jaundice, oedema, petechiae, HTN, decreased UO
Ix: CBC, blood smear -> schistocytes, urinalysis - haematuria
Management: supportive, avoid antibiotics
Nephritic Syndrome
Glomerular injury and inflammation
Clinical definition of nephritic syndrome
- Haematuria
- Dysmorphic RBCs
- RBC casts of urinalysis
Often accompanied by proteinuria, oedema, HTN, azotaemia, oliguria
Nephritic syndrome - features, investigation and management
CF: haematuria, oedema, oliguria, HTN, may be asymptomatic
Ix: urinalysis, bloods, low Alb, raised Cr and BU
Management: treat underlying cause, supportive, salt and fluid restriction, steroids if indicated
Nephrotic syndrome - HELP
Hypoalbuminemia
oEdema
Lipids elevated
Proteinuria
Nephrotic syndrome management
Prednisolone
Infantile spasms
brief spasms lasting 10-30s
Management: ACTH, vigabatrin, benzodiazepines
Headache red flags
Non progressive central motor impairment due to CNS or neural injury
Lennox-Gastaut
- Multiple seizure types
- Diffuse cognitive dysfunction
- Slow generalized spike/ slow wave EEG
Management: valproic acid, benzos, vagal nerve stimulation, ketogenic diet
Janz Syndrome (juvenile myoclonic epilepsy)
myoclonus or generalized tonic clonic seizures
Absence epilepsy
Daily absence seizures <30s duration
No postictal
Asthma Control Assessment
- Day time symptoms <4d/wk
- Night time symptoms <1night/wk
- Normal physical activity
- Mild exacerbations
- Not missing school/ work
- Does not need salbutamol <4doses/wk
- FEV1 >90%
Acute management asthma
- O2
- B2 agonist nebulised
- Ipratropium bromide
- Steroids
- Magnesium sulphate
Chronic asthma management
Reliever salbutamol
First: low dose inhaled corticosteroids
Second: <12yr moderate dose inhaled corticosteroids
> 12yr LRA or LABA with IC
Third line: injection immunotherapy
Bronchiolitis
Winter and early spring
RSV
Prodrome of URTI
Wheezing and respiratory distress
Management:
supportive
humidified high flow O2
Cystic Fibrosis Presenting Symptoms (9)
CF PANCREAS
Chronic cough/ wheeze
FTT
Pancreatic insufficiency
Alkalosis
Neonatal intestinal obstruction/ Nasal polyps
Clubbing
Rectal prolapse
Electrolytes elevated in sweat
Absence or congenital atresia of vas deferens
Sputum - S. aureus, P. aeruginosa
Cystic Fibrosis management
High nutrient diet
Pancreatic enzyme replacement
Chest physiotherapy
Antibiotics
Genetic counselling
Cystic Fibrosis Investigations
Sweat chloride test - elevated
CFTR gene mutation analysis
Neonatal screening
Cystic Fibrosis - genetics
AR
Mutation in CFTR gene on chromosome 7
F508 mutation in 70%
Croup
6-36mo
Fall and winter
Stridor
Mx: corticosteroids
Epiglottitis
Hib
Rapid progression of stridor, drooling, dysphagia, dysphonia, no cough
Management: IV antibitocs, intubation
Still’s disease
Systemic arthritis with fever spikes
Transient synovitis of the hip
self-limiting joint disorder usually after URTI or other infection
CF: low grade fever, hip/ knee pain, painful limp but full ROM
Henoch-Schonlein Purpura
Childhood vasculitis of small vessels
- Palpable purpura
- Abdominal pain
- Arthritis
Supportive Management
Kawasaki Disease criteria
Fever >5d and 4 of:
1. bilateral, on-exudative conjunctival injection
2. oral mucous membrane changes - fissured lips, strawberry tongue
3. changes of peripheral extremities
4. polymorphous rash
5. cervical lymphadenopathy
Management of Kawasaki disease
IV Ig
ASA
Complications of Kawasaki - coronary artery aneurysm, artery vasculitis
