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Medicine > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

X-linked agammaglobulinemia (XLA)

  • Inheritance pattern
  • Gene affected
  • Pathophysiology
  • Treatment
A

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

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2
Q

Contraindications to Rotavirus vaccine?

A
  1. Intussusception
  2. Abdominal disorders
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3
Q

Contraindications to TdaP-IPV?

A
  1. Anaphylaxis to streptomycin/neomycin
  2. Neurological disease
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4
Q

Which allergy is a contraindication to influenza vaccine?

A

Egg allergy

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5
Q

Developmental red flags (6)

A
  1. Not walking by 18mo, rolling too early <3mo
  2. Hand preference <18mo
  3. Less than 6 words at 18mo
  4. Not smiling at 4mo
  5. Not pointing at 15-18mo
  6. Regression of previous skills
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6
Q

Oral candidiasis treatment

A

Nystatin

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7
Q

Infant colic

A

Unexplained paroxysms of irritability

Management:
1. Reassurance
2. Change feeding technique
3. Eliminate allergens from breastfeeding mother’s diet

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8
Q

Primary dentition

A

20 teeth
First tooth at 5-9months

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9
Q

Enuresis

A

Involuntary urinary incontinence >5 years

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10
Q

Primary nocturnal enuresis

A

Management:
1. Lifestyle modification
2. “wet” alarm
3. Consider desmopressin, imipramine if >7yo

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11
Q

Faecal impaction

A

Treatment:
1. Complete bowel emptying with laxative - PEG 3350
2. Maintenance treatment

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12
Q

Definition of failure to thrive (FTT)

A

Growth failure in either height or weight during childhood

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13
Q

Clinical signs of FTT

A

SMALL KID

Subcutaneous fat loss
Muscle atrophy
Alopecia
Lethargy
Lagging behind normal
Kwashiorkor
Infections (recurrent)
Dermatitis

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14
Q

Prenatal FTT (Growth pattern and causes)

A

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

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15
Q

Postnatal FTT (Causes)

A

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)

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16
Q

Postnatal FTT (Growth Patterns)

A
  1. Decreased weight only
    - Suggests low PO intake
  2. Decreased height and weight and normal head circumference
    - Suggests dystrophies, endocrine disorder, constitutional delay, familial short stature
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17
Q

SIDS Definition

A

Sudden death of child <12mo

RFs: prematurity, sleeping prone, low birthweight, ETOH (mother in utero), indigenous, smoking in household,

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18
Q

Adolescent History (HEEADSSS)

A

Home
Education/ Employment
Eating
Activities
Drugs
Sex/sexuality
Suicide and depression
Safety/ violence

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19
Q

What is the age of consent?

A

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

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20
Q

Child Abuse

A

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)

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21
Q

Suspicious injury: (6)

A
  1. Bruising - abdomen, buttocks, genitalia, cheek or ears, neck or feet
  2. Fractures - posterior ribs, metaphyseal, scapular, vertebral, sternal
  3. Immersion burns
  4. Frenulum tear
  5. Retinal haemorrhage
  6. Bruising in babies not yet cruising
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22
Q

Suspicion of sexual abuse (8)

A
  1. Recurrent UTI
  2. Pregnancy
  3. STIs
  4. PV bleeding
  5. Vaginitis
  6. Pain
  7. Genital injury
  8. Enuresis
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23
Q

Prenatal circulation

A

Placenta - Umbilical vein - Ductus venosus - IVC - R atrium - Foramen ovale - L atrium - L ventricle - Aorta - Brain/ myocardium - SVC - Ductus arteriosus - Aorta - Systemic circulation - Placenta

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24
Q

What does the ductus arteriosus connect?

A

Pulmonary arteries to aorta (bypass the lungs)

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25
Q

What does the ductus venosus connect?

A

Umbilical vein and IVC (bypass the liver)

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26
Q

What does the foramen ovale connect?

A

Right atrium and left atrium

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27
Q

What happens when a baby takes its first breath?

A

Reduces pulmonary vascular resistance - opening of the alveoli, shunts shut, assume normal system blood flow

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28
Q

Acynotic heart diseases

A

Left to right shunt lesions

  1. ASD
  2. VSD
    4.PDA

Obstructive lesions:
1. Coarctation of aorta
2. Aortic stenosis
3. Pulmonary stenosis

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29
Q

Atrial septal defect

A

Features: often asymptomatic, pulmonic outflow murmur, may have signs of HF on CXR

Tx: elective surgery, if hole <8mm may spontaneously close

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30
Q

Ventricular septal defect

A

Features: asymptomatic, holosystolic murmur heard at left lower sternal border, thrill

Most close spontaneously

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31
Q

Patent ductus arteriosus

A

Patent shunt between left pulmonary artery and aorta

Features: may be asymptomatic or have apnoeic episodes

Management: indomethacin - inhibits prostaglandins, surgical closure

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32
Q

Coarctation of the aorta

A

Narrowing of the aorta

Management: prostaglandins to keep PDA patent for stabilisation and then surgery

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33
Q

Cynotic heart diseases

A
  1. Tetralogy of Fallot
  2. Transposition of Great Arteries
  3. Hypoplastic left heart syndrome
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34
Q

Tetralogy of Fallot

A

Ventricular septal defect, overriding aorta, pulmonary stenosis and right ventricular hypertrophy

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35
Q

Features and management of ToF

A

CF: hypoxic spells, cyanosis, R-L shunt causing hypoxemia

Management: surgical repair

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36
Q

Transposition of Great Arteries

A

Switching place of pulmonary artery and aorta

Management: prostaglandins, surgery

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37
Q

Hypoplastic left heart syndrome

A

LV hypoplasia, mitral or aortic valve defect, coarctation of aorta, small ascending aorta

Upon closure of ducts presents with circulatory shock and metabolic acidosis

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38
Q

Ebstein’s anomaly

A

Defect in RA and tricuspid valve

Associated with lithium use during pregnancy

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39
Q

Congestive Heart Failure - Key Features (4)

A
  1. Tacchy
  2. High RR
  3. Cardiomegaly
  4. Hepatomegaly
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40
Q

Signs of innocent murmur?

A

Asymptomatic, soft, systolic, short duration

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41
Q

Peripheral Pulmonic Stenosis (innocent)

A

Aetiology: flow into the pulmonary branch arteries

Location: left upper sternal border

Timing: ejection systolic

Age: neonates

Differentials: PDA, Pulmonary stenosis

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42
Q

Still’s Murmur (innocent)

A

Aetiology: across pulmonic valve leaflets

Location: left lower sternal border, radiates to axilla/back

Timing: ejection systolic

Age: 3-6 years

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43
Q

Venous Hum (innocent)

A

Aetiology: altered flow in veins

Location: infraclavicular R>L

Timing: continuous

Age: 3-6 years

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44
Q

Pulmonary flow

A

Aetiology: flow through pulmonic valve

Location: left upper sternal border

Timing: ejection systolic, soft blowing

Age: 8-14 years

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45
Q

Supraclavicular Arterial Bruit

A

Aetiology: turbulent flow in carotid arteries

Location: supraclavicular

Timing: ejection systolic

Age: any

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46
Q

Global Development Delay - definition

A

Significant delay in at least two developmental domains

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47
Q

Developmental domains (6)

A
  1. Gross motor
  2. Fine motor
  3. Speech/ language
  4. Social
  5. Cognitive
  6. ADLs
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48
Q

IQ in intellectual disability?

A

IQ <70

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49
Q

Foetal Alcohol Spectrum Disorder

A

Spectrum including FAS, partial FAS, Alcohol related birth defects, alcohol related neurodevelopmental disorder

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50
Q

Foetal alcohol syndrome - diagnostic features

A
  1. Presence of facial features (can be absent)
  2. Maternal ETOH consumption confirmed or unknown
  3. Evidence of neurodevelopmental impairment or microcephaly
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51
Q

Sentinel facial features of FAS (3)

A
  1. Short palpebral fissures, thin upper lip, flattened philtrum
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52
Q

Diabetes Mellitus Type 1 - Presentation

A

Polyuria, polydipsia, weight loss. polyphagia, perineal candidiasis, visual disturbances, DKA

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53
Q

Diagnostic criteria DM 1/2

A
  1. Symptoms and Random glucose >1

OR

  1. Two of: fasting glucose >7, OGTT > 11, HbA1c > 6.5%
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54
Q

T1DM Management

A
  1. Paed MDT approach
  2. Diet with consistent levels of carbohydrates
  3. 60minutes exercise daily
  4. Blood glucose monitoring
  5. INSULIN
55
Q

HbA1c target in diabetes

A

7%

56
Q

Management of T2DM

A
  1. Lifestyle modification for 3-6 mo
  2. Metformin (first line)
  3. Glimeperide (sulfonylurea) or insulin (second lines)
  4. If glycaemic control not met with metformin add liraglutide with/without basal insulin
  5. Monitor HbA1c every 3 months
  6. Annual screening for PCOS and NAFLD
57
Q

Definition short stature

A

Height < 3rd percentile
Poor growth (decreased growth velocity)

58
Q

Short stature management

A
  1. No treatment if non-pathological, except idiopathic
  2. Consider GH therapy (if early age)
59
Q

Congenital hyperthyroidism

A

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)

60
Q

Congenital hypothyroidism

A

CF: may be asymptomatic, jaundice, lethargy, constipation, umbilical hernia, macroglossia, puffy face, swollen eyes, hypotonia

Management: thyroxine replacement

61
Q

Congenital Adrenal Hyperplasia

A

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

62
Q

Precocious puberty

A

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)

63
Q

Delayed Puberty

A

Failure to develop secondary sex characteristics by 13yo girls and 14yo in boys

64
Q

Maintenance fluid requirements

A
  1. 1-10kg: 100mL/kg/d
  2. 11-20kg: 1000L + 50ml/kg/d for every kg over 10kg
  3. > 20kg: 1.5L + 20mL/kg/d for every kg over 20kg
65
Q

Tracheoesophageal fistula

A

CF: excessive secretions after birth, inability to feed, cyanosis, vomiting

Ix: XR

66
Q

Pyloric stenosis

A

CF: projectile vomiting (non bilious), olive shaped mass, target sign USS

67
Q

GERD

A

Regurgitation or vomiting, typically after feeds

Management:
1. thickened/ frequent feeds
2. PPI

68
Q

Intussusception

A

CF: sausage shaped mass, red currant jelly stool, signs of obstruction

Ix: AXR for signs of obstruction or perforation or USS

69
Q

Meckel’s diverticulum

A

Can cause bleeding and ulceration in small bowel and abdominal sepsis

CF: tenderness and distension, peritonism

Ix: AXR, Meckel scan

70
Q

Gastroenteritis
- When bacterial?
- Pathogens?
- Management?

A

Suspect bacterial if severe pain, high fever, bloody stool

Common causes: rotavirus, adenovirus, norovirus

Management: supportive

71
Q

Toddler’s diarrhoea

A

CF: 4-6 bowel movements/day, undigested food in stool, diaper rash

Management: self-limiting

72
Q

Lactose intolerance
- Features
- Diagnosis

A

CF: chronic, watery diarrhoea, abdominal pain, bloating, cramping

Ix: trial lactose free diet, symptom assessment, lactase deficiency (small bowel biopsy, genetic testing)

73
Q

Cow’s Milk Allergy

A

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

74
Q

Management of constipation

A

PEG 3350, fluids, dietary fibre

75
Q

Hirschsprung’s disease

A

Associated enterocolitis - can be life threatening –> toxic megacolon and perforation

Ix: AXR, rectal biopsy

Mx: surgical

76
Q

Physiological anaemia of infancy

A

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

77
Q

Iron deficiency anaemia

A

Prevention:
iron supplementation 1mg/kg/d
no cow’s milk until 12mo

Management:
diet
oral iron therapy 4-6mg/kg/d

78
Q

Vitamin K deficiency

A

Most common <6mo age

Give Vitamin K SC/IV

79
Q

Immune Thrombocytopenic Anaemia (ITP) Definition

A

Isolated thrombocytopenia with normal WBC and Hb count

80
Q

ITP Clinical Features

A

Normally preceded by viral illness

Sudden onset petechiae, purpura, bleeding in well child

No lymphadenopathy or hepatosplenomegaly

81
Q

Management of ITP

A

Mild/ no bleeding - watch and wait

Moderate: IV Ig or steroids

Life threatening: plt transfusion, emergency splenectomy

82
Q

Most common paediatric cancers (3)

A
  1. Leukaemia
  2. Brain tumours
  3. Lymphomas
83
Q

Leukaemia Clinical Features and age on onset

A

2-5yr in paeds

  1. Anaemia
  2. Neutropenia
  3. Thrombocytopaenia

Fever, weight loss, failure to thrive, easy bruising and bleeding

84
Q

Lymphoma - age of onset and features

A

Hodgkin: 15-34/ >50yr
Non Hodgkin: 7-11yr

Painless lymphadenopathy
Enlarging lymph node - non Hodgkin’s
B symptoms
May present with cough/ SOB

85
Q

Wilm’s Tumour
- age of onset and associated congenital abnormalities

A

2-5yr

WAGR
Wilm’s
Aniridia (absent iris)
Genitourinary
mental Retardation

86
Q

Wilm’s Clinical Features, Management and Treatment

A

Nephroblastoma

Abdominal mass, abdominal pain, HTN, haematuria, UTI, anaemia

Ix: USS, contrast staging CT
Mx: nephrectomy, chemo/radiotherapy

87
Q

Neuroblastoma
- age of onset
- clinical features
- investigation and management

A

<1yr life

Most common in the adrenal gland

Symptoms vary depending on site

Ix: MRI or CT
Management: surgery, chemo/radio

88
Q

Acute Otitis Media (AOM) Criteria (3)

A
  1. Middle ear effusion
  2. Middle ear inflammation
  3. Acute onset
89
Q

AOM Causative bacteria

A
  1. S. pneumoniae
  2. H. influenzae
  3. M catarrhalis
  4. Group A strep
90
Q

AOM Clinical features and management

A

Otalgia, fever, conductive hearing loss

Bulging tympanic membrane

Mx: supportive, antibx if <6mo (amoxicillin)

91
Q

Otitis Media with effusion

A

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

92
Q

Most common cause of paediatric hearing loss?

A

Otitis Media with effusion

93
Q

Infectious Mononucleosis
- pathogen
- features
- investigations and mangement

A

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

94
Q

Score used to assess if throat culture will be positive in tonsillitis

A

m-CENTOR

Must be >3yr
Cough
Exudate
Nodes
Temperature
Only young
Rarely elderly (-1 if >45yr)

95
Q

Meningitis - features, investigation and management

A

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

96
Q

Bacterial Meningitis versus Viral Meningitis

A

Bacterial: low lymphocytes, high WCC, low glucose, high protein

Viral: normal-high lymphocytes, low WCC, normal glucose, normal protein

97
Q

Treatment of bacterial meningitis

A

0-28d: Ampicillin + cefotaxime

28-90d: cefotaxime + vancomycin

> 90d: Ceftriaxone + vancomycin

98
Q

Pertussis

A

Bordetella pertussis: gram negative rod

URTI prodrome
inspiratory whooping cough

Ix: NP culture, bloods

Management: supportive, macrolide antibiotic if <21d onset

99
Q

Physiological jaundice

A

Onset 3-4d, resolves by 10d
premature: higher peak, longer duration

100
Q

Is conjugated hyperbilirubinemia physiological?

A

No, it is always pathological

101
Q

Treatment of unconjugated hyperbilirubinemia

A

Phototherapy blue-green wave length

102
Q

Biliary atresia

A

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

103
Q

Necrotizing Enterocolitis

A

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)

104
Q

Persistent Pulmonary Hypertension of the Newborn

A

Within 12hr of birth presenting with hypoxia and cyanosis

Management: O2, mechanical ventilation, nitric oxide, surfactant

105
Q

Meconium aspiration syndrome

A

Respiratory distress within hours of birth, barrel chest, small airway obstruction

Tx: surfactant, supportive

106
Q

Transient tachypnoea of the newborn

A

Often no hypoxia/ cyanosis

Treated supportively

107
Q

Respiratory distress syndrome in newborn

A

Surfactant deficiency

Worsening respiratory distress, hypoxia and cyanosis

CXR: homogenous infiltrates, bronchograms

Management: surfactant, ventilatory support

108
Q

Haemolytic uraemia syndrome triad

A
  1. Haemolytic anaemia
  2. Thrombocytopenia
  3. Acute renal injury
109
Q

HUS pathology, clinical features, investigation and management

A

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

110
Q

Nephritic Syndrome

A

Glomerular injury and inflammation

111
Q

Clinical definition of nephritic syndrome

A
  1. Haematuria
  2. Dysmorphic RBCs
  3. RBC casts of urinalysis

Often accompanied by proteinuria, oedema, HTN, azotaemia, oliguria

112
Q

Nephritic syndrome - features, investigation and management

A

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

113
Q

Nephrotic syndrome - HELP

A

Hypoalbuminemia
oEdema
Lipids elevated
Proteinuria

114
Q

Nephrotic syndrome management

A

Prednisolone

115
Q

Infantile spasms

A

brief spasms lasting 10-30s

Management: ACTH, vigabatrin, benzodiazepines

115
Q

Headache red flags

A

Non progressive central motor impairment due to CNS or neural injury

116
Q

Lennox-Gastaut

A
  1. Multiple seizure types
  2. Diffuse cognitive dysfunction
  3. Slow generalized spike/ slow wave EEG

Management: valproic acid, benzos, vagal nerve stimulation, ketogenic diet

117
Q

Janz Syndrome (juvenile myoclonic epilepsy)

A

myoclonus or generalized tonic clonic seizures

118
Q

Absence epilepsy

A

Daily absence seizures <30s duration

No postictal

119
Q

Asthma Control Assessment

A
  1. Day time symptoms <4d/wk
  2. Night time symptoms <1night/wk
  3. Normal physical activity
  4. Mild exacerbations
  5. Not missing school/ work
  6. Does not need salbutamol <4doses/wk
  7. FEV1 >90%
120
Q

Acute management asthma

A
  1. O2
  2. B2 agonist nebulised
  3. Ipratropium bromide
  4. Steroids
  5. Magnesium sulphate
121
Q

Chronic asthma management

A

Reliever salbutamol

First: low dose inhaled corticosteroids

Second: <12yr moderate dose inhaled corticosteroids

> 12yr LRA or LABA with IC

Third line: injection immunotherapy

122
Q

Bronchiolitis

A

Winter and early spring

RSV

Prodrome of URTI

Wheezing and respiratory distress

Management:
supportive
humidified high flow O2

123
Q

Cystic Fibrosis Presenting Symptoms (9)

A

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

124
Q

Cystic Fibrosis management

A

High nutrient diet
Pancreatic enzyme replacement
Chest physiotherapy
Antibiotics
Genetic counselling

124
Q

Cystic Fibrosis Investigations

A

Sweat chloride test - elevated
CFTR gene mutation analysis
Neonatal screening

124
Q

Cystic Fibrosis - genetics

A

AR
Mutation in CFTR gene on chromosome 7
F508 mutation in 70%

125
Q

Croup

A

6-36mo

Fall and winter

Stridor

Mx: corticosteroids

126
Q

Epiglottitis

A

Hib

Rapid progression of stridor, drooling, dysphagia, dysphonia, no cough

Management: IV antibitocs, intubation

127
Q

Still’s disease

A

Systemic arthritis with fever spikes

128
Q

Transient synovitis of the hip

A

self-limiting joint disorder usually after URTI or other infection

CF: low grade fever, hip/ knee pain, painful limp but full ROM

129
Q

Henoch-Schonlein Purpura

A

Childhood vasculitis of small vessels

  1. Palpable purpura
  2. Abdominal pain
  3. Arthritis

Supportive Management

130
Q

Kawasaki Disease criteria

A

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

131
Q

Management of Kawasaki disease

A

IV Ig
ASA

Complications of Kawasaki - coronary artery aneurysm, artery vasculitis

Medicine (16 decks)

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