Paediatrics Flashcards

Question

Down's Syndrome - what does NIPT test?

Answer 1

Cell-free DNA shed from placenta into maternal blood stream

Answer 2

Echocardiogram - congenital heart defects Red reflex testing - congenital cataracts TFTs - congenital thyroid disease FBC - myeloproliferative disorders/polycythaemia Hearing assessment - congenital hearing issues Radiographic swallowing assessment - performed if feeding difficulties present to screen for GI abnormalities eg duodenal atresia

Answer 3

60 y/o - Varies depedning on severity of associated complications

Answer 4

An acute, self-limiting, systemic, medium-vessel vasculitis of unknown cause that mainly affects children <5 y/o and commonly presents with a high fever (above 39ºC) lasting 5 or more days

Answer 5

Asian ethnicity - especially Japanese Aged <5 y/o - 80% of cases Male - 1.5:1 (M:F)

Answer 6

Consider in any child with persistent high fever (above 39ºC) lasting 5 or more days CREAM: - Conjunctivitis; bilateral, non-exudative - Rash; any non-bullous rash, often maculopapular and desquamation of hands and feet occurs in sub-acute phase - Edema/Erythema; of hands of feet - Adenopathy; cervical, commonly unilateral and non-tender - Mucosal involvement; strawberry tongue, oral fissures etc AHA Diagnostic criteria is similar

Answer 7

Most Common - Coronary Artery Aneurysms - 15-25% untreated children develop aneurysms but risk much lower with early treatment (giant aneurysms can rupture -> cardiac tamponade) Coronary Artery Thrombosis/MI Myocarditis/Pericarditis Valvular Disease - eg MR

Answer 8

Hospital admission - early treatment to prevent coronary artery aneurysms Oral aspirin (reduce thrombosis risk) - - High dose until fever resolves for 48 hours - Low dose for ~6 weeks after IVIG (reduce CA aneurysm risk)- infusions within first 10 days can reduce incidence of coronary artery aneurysms (clinical improvement within 36 hours or 2nd dose may be given) - Corticosteroids or infliximab (anti-TNF) if ineffective/resistant

Answer 9

Acute Phase (1-2 weeks from fever onset) - * High fever * Irritability * Rash * Lymphadenopathy * Mucositis * Peripheral erythema and oedema Subacute Phase (2-4 weeks from fever onset) * Afebrile * Most clinical features begin to resolve, desquamation of the hands and feet * Arthralgia - The highest risk period for developing cardiac complications Convalescent Phase (4-8 weeks from fever onset) * Asymptomatic period * Clinical features have resolved - Coronary artery aneurysms often improve but may get worse

Answer 10

Bedside - - ECG; may show arrhythmias or ST-T changes if myocarditis/MI occurs - Urinalysis; may show sterile pyuria (raised WCC w/o infection) Lab: Baseline Bloods - - FBC - may be anaemia, raised WCC, thrombocytosis - U&Es - LFTs - may be deranged if hepatitis occurs, hypoalbuminaemia can occur ESR + CRP; Often significantly raised Anti-streptolysin O Titre (ASOT); Exclude GAS infection Consider PIMS-TS blood tests if suspected as DDx - Troponin - D-dimer - Coagulation w/ fibrinogen - Ferritin Imaging: - Echocardiography essential * Findings include: ○ Coronary artery aneurysms ○ Valvular disease (e.g. mitral regurgitation) ○ Coronary artery thrombosis ○ Poor ventricular function/evidence of myocarditis - Pericardial effusion/evidence of pericarditis

Answer 11

Aspirin use in <16 y/o associated w/ Reye's Syndrome; rare acute encephalopathy associated with liver failure

Answer 12

CMPA - hypersensitivity to cow's milk protein; allergic process (IgE mediated or non-IgE mediated) CMPI - non-allergic process (no immune system response) to cow's milk protein, just GI symptoms and no systemic allergic symtpoms like wheeze/sneezing etc Lactose Intolerance - lactose is a sugar not a protein and no allergic response

Answer 13

IgE Mediated/Immediate - Rapid reaction to cow’s milk, occurring within 2 hours of ingestion Non-IgE Mediated/Delayed - reactions occur slowly over several days

Answer 14

* Typically affects infants and young children <3 y/o * Typically presents within first 3 months of life in formula-fed infants * Rarely seen in exclusively breastfed infants * 3-6% of all children * More common in: * Formula fed babies and those with a personal or family history of atopic conditions

Answer 15

Presents before 1 y/o typically <3 months; often apparent when weaning from breast milk to formula milk/food containing milk * Breastfed babies when mother is consuming milk products * In severe cases - failure to thrive (needs paediatric referral) GI Symptoms - Bloating and wind - Colic symptoms/Abdominal pain - irritability and crying - Diarrhoea - Vomiting Systemic Allergic Symptoms - Urticarial rash (hives) - (Rare) Angio-oedema (facial swelling) - Cough or wheeze - Sneezing - Watery eyes - Atopic eczema *Rarely, in severe cases, anaphylaxis

Answer 16

Often clinical diagnosis and trial of eliminating cow's milk (with symptom resolution) should support diagnosis Others: - Skin prick/patch testing - Total IgE and specific IgE (RAST) for cow's milk protein

Answer 17

Formula Fed: - Mild/Moderate symptoms; 1st line is extensive hydrolyed formula (eHF) - Severe/No response from eHF; Amino acid-based formula (AAF) eg neocate Breastfed: - Continue breastfeeding - Mother eliminate all dairy from diet (consider Ca2+ supplements to prevent deficiency) - Use eHF when breastfeeding stops until 12 months old for at least 6 months Milk Ladder: - Every 6 months or so try on 1st step - Slowly progress until they develop symptoms - Over time should be able to progress towards normal diet containing milk

Answer 18

Usually resolves: - IgE mediated intolerance - ~55% will be milk tolerant by the age of 5 years - Non-IgE mediated intolerance - most children will be milk tolerant by the age of 3 years

Answer 19

GORD - causes symptoms or complications eg FTT Physiological - Up to 40% regurgitate feeds to some extent, usually begins before 8 weeks anfd resolves by 1 y/o (90%). Due to LOS natural weakness at this stage

Answer 20

1 y/o in 90%

Answer 21

Anatomical causes: - Shorter/narrower oesophagus - LOS slightly above diaphragm Physiological causes: - Natural weakness of LOS (should resolve by 1 y/o)

Answer 22

* Prematurity - the incidence of GORD is even higher in preterm infants, particularly if the infant has a feeding tube * History of congenital diaphragmatic hernia or oesophageal atresia * Hiatus hernia * Neuro-disability - e.g. cerebral palsy * Parental history of heartburn or acid regurgitation

Answer 23

* Time taken to feed >30 minutes * Distressed behaviour during meal times (e.g. crying while feeding or refusing to feed) * Hoarseness and/or chronic cough * Faltering growth * Vomiting - milky after feeds, may occur after being laid flat * Arching of the back * Drawing up of the knees into the chest - can be mistaken for seizures * Episode of pneumonia secondary to aspiration

Answer 24

Similar to adults; * Retrosternal pain * Epigastric pain * Bloating * Nocturnal cough

Answer 25

Observations; Temperature - exclude acute differentials like infections Head Circumference; Measure + plot to exclude other worrying patterns eg faltering growth Resp Exam; May have a single episode of pneumonia with GORD but recurrent episodes should prompt further investigations Abdo Exam; Usually normal - positive findings should make you consider DDx

Answer 26

General - Persistent symptoms despite management of GORD >1 y/o Pyloric Stenosis/Intestinal Obstruction * Not keeping down any feed * Projectile or forceful vomiting (non-bilious in pyloric stenosis) Intestinal Obstruction * Bile stained vomit (green) * Abdominal distension Peptic Ulcer/Oesophagitis/Varices * Haematemesis * Melaena Meningitis/Raised ICP * Reduced consciousness * Bulging fontanelle * Neurological signs Aspiration and Infection - Respiratory symptoms Gastroenteritis/CMPA - Blood in stools Infections * Pneumonia * UTI * Tonsilitis * Otitis * Meningitis CMPA * Rash * Angioedema * Other signs of allergy Apnoeas- Concerning feature and may indicate serious underlying pathology and need urgent assessment

Answer 27

Clinical Diagnosis * If breastfed - consider feeding assessment by health visitor * Feeding history - to exclude red flags * Growth chart - document on chart to exclude other causes of faltering growth

Answer 28

Infection and inflammation of bronchioles (LRT) leading to narrowing of the small airways

Answer 29

- Most common 3-6 months - 1/3 develop <1 y/o - Occurs mostly over Winter with episodes lasting 7-10 days

Answer 30

RSV - 80% Adenovirus Mycoplasma Parainfluenza virus Rhinovirus Influenza Human metapneumovirus

Answer 31

Prematurity - bronchopulmonary dysplasia Chronic lung disease Congenital heart disease CF <3 months old Down's Syndrome Neuromuscular disease

Answer 32

- SOB - Wheezing + persistent cough (often wet sounding) - Runny nose (coryza) - Mild temp - Often worsens on 2nd/3rd night - Poor feeding and dehydration if more severe

Answer 33

- Bilateral polyphonic wheeze - Tachypnoea - Tachycardia - Low grade fever - Irritability - Increased WOB (recessions, nasal flaring, accessory muscles, additional sounds, tracheal tug, head bobbing etc)

Answer 34

Pneumonia: - Fever >39o - Focal crackles Viral-induced wheeze: - Persistent wheeze without crackles - Recurrent wheeze associated with a viral illness - Personal or family history of atopy - >1-year-old - Responsive to salbutamol treatment Early-onset asthma - Persistent wheeze without crackles - Recurrent wheeze associated with triggers - Personal or family history of atopy - >1-year-old - Responsive to salbutamol treatment Bordetella pertussis or whooping cough - Coryza - Characteristic hacking cough followed by an inspiratory ‘whoop’ - Unvaccinated Gastro-oesophageal reflux - Chronic cough - Poor weight gain Foreign body aspiration - May have a history of choking - Monophonic wheeze Chronic heart disease or failure - Cyanosis - Shortness of breath - Hepatomegaly - Murmurs

Answer 35

Present with coryzal symptoms lasting up to 3 days, followed by: 1) Persistent cough and 2) Tachypnoea or chest recession and 3) Wheeze or crackles on chest auscultation

Answer 36

O2 - if SpO2 <92% Feeding supplementation (Oral, NG or IV), stepwise approach may be considered: 1) Small and frequent oral feeds, 2) NG tube placement with small and frequent NG bolus feeds, 3) Continuous NG feeds, 4) IV fluids Saline nasal drops/nasal suctioning - clears nasal secretions especially before feeding (as obligate nasal breathers) Severe resp distress - resp support: 1) High flow O2 (eg Airvo to add PEEP) or CPAP 2) Intubation/ventilation *Need to assess with capillary blood gases

Answer 37

Parental smoking cessation Safety netting

Answer 38

Palivizumab - monoclonal antibody against RSV - Monthly injection - Passive protection - High risk; eg ex-prem, congenital heart disease

Answer 39

* Apnoea * SpO2 <92% * Reduced oral intake <50-75% normal * Persistent respiratory distress - significant chest recessions, grunting * Presence of risk factors for severe disease * Difficult social factors ○ Living far away *Lack of parental confidence

Answer 40

Not effective: - Respiratory tract narrowing due to increased secretions, not bronchoconstriction - Viral aetiology

Answer 41

- Clinical dehydration - SIADH and subsequent hyponatraemia - Apnoea and respiratory failure

Answer 42

Rare condition causing brief episodes of abnormal movements associated with gastro-oesophageal reflux in infants: - Torticollis; forceful neck muscle contractions causing twisting - Dystonia; abnormal muscle contractions cauisng twisting movements, arching of back or unusal postures Referral to specialist needed as DDx is West syndrome/infantile spasms and seizures

Answer 43

Reaction to erythrogenic toxins produced by Group A haemolytic streptococci (often Strep pyogenes)

Answer 44

Children 2-6 y/o Peak incidence 4 y/o Respiratory droplets

Answer 45

Symptoms: - Fever (typically 48hrs) - Abdo pain and N+V - Sore throat - Strawberry tongue Rash: - Sandpaper, rough - Fine punctuate erythema (pinhead) generally appearing on torso - Palms and soles spared - Flushed appearance with circumoral pallor

Answer 46

Largely clinical but throat swab should be taken, start treatment whilst sample processed (don't wait)

Answer 47

1st Line - Oral penicillin V for 10 days; if well no need to admit Penicillin allergy - Macrolides; Clarithromycin/Azithromycin PHE need to be notified

Answer 48

Can return to school 24hrs after commencing Abx as no longer infectious

Answer 49

Otitis Media - most common Rheumatic Fever - typically 20 days after infection Acute Glomerulonephritis - typically occurs 10 days after infection (Post-strep glomerulonephritis) (Rare) Invasive complications - eg bacteraemia, meningitis, necrotising fasciitis

Answer 50

<3 months old - >38C >3 months - >39.5C (higher fevers may indicate serious bacterial infection)

Answer 51

Barlow - attempts to dislocate an articulated femoral head Ortolani - attempts to relocate a dislocated femoral head

Answer 52

Bronchiolitis - acute, coryza, <1 y/o (3-6m), RSV +ve Viral-induced wheeze - acute, <3 y/o, no atopic hx, only occurs during viral infections Asthma - chronic difficult in <5 y/o, family hx, atopic features, episodic, diurnal variation CF - chronic, recurrent chest infections Foreign body inhalation - typically unilateral, in toddlers Allergy/Anaphylaxis - sudden onset, associated symptoms like urticarial rash, swelling of lips/face/tongue Reflux - worse when lying down, associated with feeds Chronic lung disease - ex pre-term, genetic malformation, chromosomal deletion Pneumonia

Answer 53

A small vessel IgA vasculitis occurring in children * Characteristic non-blanching purpuric/petechial rash typically distributed on lower limbs and buttocks * Affects: Skin, Kidneys, GI Tract * Often triggered by URTI or gastroenteritis * Degree of overlap with IgA nephropathy (Berger's disease)

Answer 54

Most common in <10 y/o

Answer 55

IgA Deposits - in small blood vessels causes inflammation in the affected organs Rash - non-blanching purpuric * Inflammation and leaking of blood from capillaries under skin forming purpura * Hence non-blanching as has bled underneath/into skin

Answer 56

* Child <10 y/o * Presenting following infection (URTI/gastroenteritis) * 100% - Non-blanching purpuric rash across lower limbs/arms/buttocks + extensor surfaces w/ localised oedema * 75% - Joint pain; mostly knees and ankles, can be swollen/painful, reduced ROM * 50% - Abdo pain * 50% - IgA nephritis (proteinuria, potentially hypertension) * May be pyrexial

Answer 57

Abdominal pain Can lead to: * Intussusception * GI haemorrhage * Bowel infarction

Answer 58

Proteinuria - if ≥2+ = Nephrotic syndrome; will have a degree of oedema Micro or Macroscopic haematuria

Answer 59

* Meningococcal septicaemia * ITP * Leukaemia * Haemolytic Uraemic Syndrome * Viral illnesses * Mechanical causes (eg abuse) * Petechiae around face can be from coughing/vomiting

Answer 60

Need to exclude serious pathology first Bloods: * FBC - ITP (Thrombocytopaenia), ?Sepsis (Neutrophilia) * Blood Film - Leukaemia (presence of blast cells) * Renal Profile * Serum albumin - Nephrotic syndrome * CRP - Sepsis Blood Cultures - For meningococcal sepsis Urine * Dipstick - Proteinuria (≥2+ = Nephrotic syndrome) * Urine Protein:Creatinine Ratio - Quantify proteinuria Blood Pressure - Hypertension (corrected for height)

Answer 61

Palpable purpura (not petechiae) + 1 of: 1) Diffuse abdominal pain 2) Arthritis or arthralgia 3) IgA deposits on histology (biopsy) 4) Proteinuria or haematuria

Answer 62

Supportive - Simple analgesia, rest + hydration Other - * Anti-hypertensives may be considered if hypertensive * Steroids (inconsistent evidence) - potential if severe abdo pain/renal involvement Monitoring - BP and urinalysis for 12 months

Answer 63

* Majority recover completely within 4-6 weeks * 1/3 relapse within 6 months * 1/5 have long term renal impairment with significant proteinuria (very small proportion develop ESRD)

Answer 64

Type 3 - Immune complex mediated + IgG

Answer 65

A group of permanent, non-progressive movement/posture disorders occurring as a result of a lesion of the motor pathways in the developing CNS * Nature of symptoms may change over time during growth and development * Huge variation from completely wheelchair bound/dependent to paralympic athletes with subtle co-ordination/mobility problems

Answer 66

2-3/1,000 children

Answer 67

Antenatal - 80% * Congenital malformation * Congenital infection - eg rubella, toxoplasmosis, CMV * Trauma during pregnancy Perinatal/Intrapartum - 10% * Birth asphyxia/trauma (hypoxic-ischaemic encephalopathy) * Pre-term birth Postnatal - 10% * Intraventricular haemorrhage * Meningitis * Head-trauma * Medication toxicity * Kernicterus/Severe neonatal jaundice - brain damage from hyperbilirubinaemia Idiopathic

Answer 68

(Manifestations dependent on site + extent of lesion, categories may overlap and have wide variety) Spastic/Pyramidal - 70-90% * Hypertonia and reduced function resulting from damage to upper motor neurones (pyramidal pathways) * General features: increased tone and reflexes, clasp knife, flexed hip and elbow * Scissor gait * May be monoplegic, diplegic, hemiplegic Dyskinetic/Athetoid/Extrapyramidal - * Damage to basal ganglia (may exhibit choreiform movement or signs of Parkinsonism) * Problems controlling muscle tone, with hypertonia and hypotonia * Athetoid movements and oromotor problems Ataxic - * Cerebellar damage - DANISH and lack of co-ordination Mixed

Answer 69

Monoplegia - One limb Hemiplegia - One side of body affected Diplegia - Four limbs affected but mostly legs Quadriplegia - Four limbs affected more severely, often with: * Seizures * Speech disturbance * Other impairments

Answer 70

* Hand preference below 18 months is a key sign to remember for exams * Abnormal tone early infancy - hyper or hypo, general or in specific limbs * Delayed motor milestones * Abnormal gait * Feeding/swallowing difficulties * Problems with coordination, speech or walking * Learning difficulties

Answer 71

* Learning difficulties (60%) * Epilepsy (30%) * Squints (30%) * Hearing impairment (20%)

Answer 72

Gait * Hemiplegic or diplegic; caused by increased muscle tone and spasticity in the legs * Legs extended with plantar flexion of feet and toes; so have to swing leg around in a large semicircle when moving leg forward (not enough space to swing extended leg below them) UMN Signs * Good muscle bulk * Increased tone * Brisk reflexes * Slightly reduced/normal power Athetoid Movements - indicate extrapyramidal (basal ganglia involvement) Co-ordination Tests - for cerebellar involvement

Answer 73

* Acquired brain injury * Brain tumour

Answer 74

MDT Approach: *Physio - stretch/strengthen muscles to maximise function + prevent painful contractures *Occupational Therapy - used to help patients manage their everyday activities eg techniques or home adaptations * SALT - help with speech and swallowing (including safe swallow) * Dieticians - ensure meeting nutritional requirements * Surgical - Ortho (MSK deformities, tenotomies, injuries), GenSurg (PEG tube fitting), Neurosurg (selective dorsal rhizotomy) * Paeds - Regular involvement + optimising meds * Social workers - help with benefits and support * Charities/Support groups - opportunities to connect with others affected and share info

Answer 75

Muscle relaxants for spasticity - * Oral and intrathecal baclofen for spasms * Botox injections (botulinum toxin type A) for contractures * Oral diazepam Anti-epileptic drugs Glycopyrronium bromide - for excessive drooling Analgesia

Answer 76

* Learning disability * Epilepsy * Injuries from impaired balance/co-ordination * Aspiration pneumonias from impaired swallowing * Kyphoscoliosis and other MSK deformities resulting from impaired posture and muscle control * Muscle contractures and wasting * Hearing and visual impairment * Gastro-oesophageal reflux