Paeds Flashcards

Question

What are the signs and symptoms of anaphylaxis?

Answer 1

- Airway (swelling, hoarseness, stridor) - Breathing (high RR, wheeze, cyanosis, O2<92%) - Circulation (pale, clammy, low BP, coma) - Skin (urticaria/angioedema)

Answer 2

- ABCDE approach - Call for help - BLS if unresponsive/not breathing IM Adrenaline (1: 1,000) – dose as per guidelines/weight: - Given in thigh - Assess response after 5 minutes and repeat if needed Monitoring and additional treatment: - Establish airway + high-flow O2 - IV fluids (20mL/kg crystalloids) - IV Chlorpheniramine, 10mg (IM or slow IV) - IV Hydrocortisone, 200mg (IM or slow IV) - Salbutamol (if wheeze)

Answer 3

- C1 esterase deficiency | - recurrent facial swelling and abdo pain

Answer 4

- Microcephaly, - absent philtrum, - cardiac abnormalities, - reduced IQ, - IUGR, - small upper lip

Answer 5

- IUGR, - miscarriage, - stillbirth

Answer 6

TRIAD: Cataracts, deafness, cardiac abnormalities

Answer 7

- Skin scarring, - eye defects (small eyes), - neurological defects (low IQ, microcephaly)

Answer 8

- Rhinitis, - saddle-nose, - deafness (sensorineural), - hepatosplenomegaly, - jaundice

Answer 9

- Trisomy 13 - 1 in 14, 000 births - 80% die within the first month of life

Answer 10

* Microcephaly (and brain defects) * Microphthalmia (small eyes) * Other eye defects * Cleft lip/palate * Polydactyl * Omphalocele / Gastroschisis

Answer 11

- USS analysis in 2nd trimester | - Chromosomal analysis from amniocentesis/cffDNA (NIPT)

Answer 12

- Trisomy 18 - 1 in 14,000 births - Many will die in infancy, but prolonged survival is possible - Associated with Exomphalos / Omphalocele

Answer 13

- LBW - Small mouth/chin - Low-set ears - ‘Rocker-bottom’ feet - Overlapping fingers - Intellectual disability - Cardiac, renal and GI abnormalities - Omphalocele / Gastroschisis

Answer 14

- USS analysis in 2nd trimester | - Chromosomal analysis from amniocentesis/cffDNA (NIPT)

Answer 15

- Autosomal dominant with a normal karyotype (affects both males and females) - Penetrance varies greatly (from lethal prenatally to minimal morbidity) - Mutated RAS/Mitogen Activated Protein Kinase

Answer 16

- Webbed neck - Trident hairline - Pectus excavatum - Short stature - Pulmonary stenosis – ES murmur

Answer 17

- Male with 47 XXY - 1-2 per 1,000 males live-born - Normal appearance and normal IQ

Answer 18

- Woman with 45X | - 1 in 2,500

Answer 19

- Pyloric stenosis - Cardiac problems (coarctation of aorta, bicuspid aortic valve) • AS murmur = ESM over aortic valve - Renal anomalies - Cystic hygroma (may resolve early  skin on the back of the neck) - Ovarian dysgenesis

Answer 20

- Lymphoedema of hands/feet in neonate - Short stature, spoon-shaped nails - Wide carrying angle - Thick or webbed neck - Infertility - Bicuspid aortic valve > Aortic coarctation (ESM over aortic valve) - Delayed puberty - Hypothyroidism - Omphalocele / Gastroschisis

Answer 21

- Growth hormone therapy (plot height on syndrome specific growth charts) - Oestrogen replacement (at time of puberty for development of secondary sexual characteristics)

Answer 22

- 1 in 4,000 births; although X-linked, some males can be unaffected and assume the role of ‘genetic carriers’ and transmit the condition through daughters to their grandsons (potentially due to variable penetrance due to genetic anticipation) - A trinucleotide repeat-expansion mutation

Answer 23

- Fragile X syndrome - Myotonic dystrophy - Huntington disease (occurs in a coding region of the genes  abnormal protein production)

Answer 24

- IQ 20-80 (mean 50) – 2nd most common cause of low IQ after Down’s Syndrome - Macrocephaly, macroorchidism - Large, low-set ears - Long, thin face - Other – autism, joint laxity, scoliosis - Complication: Mitral valve prolapse

Answer 25

Genetic counselling to all fragile-x families

Answer 26

- Lack of paternal PWS region on CHr 15

Answer 27

- Angelmans syndrome | - Lack of maternal PWS region on CHr 15

Answer 28

- cognitive impairment, - ataxia, - epilepsy, - abnormal facial appearance

Answer 29

Fat, floppy, flaccid - Hypotonia - Hyperphagia - Almond-shaped eyes - Hypogonadism - Obesity (in later childhood) - Epicanthal folds - Flat nasal bridge + upturned nose - Learning disability

Answer 30

- De novo deletion in the child | - Uniparental disomy (two copies from one parents, none from the other)

Answer 31

- Growth hormone if clinical evidence of growth failure | - Management of feeding and obesity )ie. lock cupboards)

Answer 32

1. Meiotic non-disjunction (94%) - Error at meiosis, pair of chromosomes 21 fail to separate (one gamete has 2 x 21 and one has none) - No need to examine parental chromosome 2. Translocation - Extra chromosome 21 is joined to another chromosome (usually 14), Robertsonian translocation, parental Chr analysis is recommended, risk of recurrence 10-15% if mother is translocation carrier 3. Mosaicism - Milder phenotype, some cells are normal, and some have trisomy 21, formation of chromosomally normal zygote but non-disjunction at mitosis

Answer 33

Craniofacial appearance: - round face, - flat nasal bridge, - epicanthic folds, - brushfield spots in iris, - small mouth, - small ears, - flat occiput, - 3rd fontanelle, - short neck, - single palmar crease, - sandal-gap, - hypotonia

Answer 34

- Congenital heart defects - duodenal atresia - hirschprungs disease - omphalocele +/- umbilical hernia

Answer 35

- Kostmanns syndrome - Blood syndrome - Fanconi syndrome; Diamond Black-fan - NF 1 - Li Fraumeni syndrome

Answer 36

- Delayed motor milestone - LD - short stature - OSA - Visual impairment - Sensory otitis media Increased chance of: - TAM - Hypothyroid and coeliacs - Early onset alzheimers - Epilepsy - Jpint laxity (screen for atlantoaxial instability in those doing sports --> risk of neck dislocation)

Answer 37

- Echocardiogram (AVSD) and evaluation by paediatricians (duodenal atresia) - Genetic counselling (review chromosome results, discuss risk of recurrence) - Early intervention programmes if developmental delay is present • Physiotherapy → prevent abnormal compensatory movements for physical limitations • OT → fine motor and self-care • SALT → speech intelligibility and to manage language delay

Answer 38

- Annual hearing test, thyroid levels, ophthalmic evaluation (up to 5 years then every 2 years) - Appropriate education placement with an individualised educational plan - Haemoglobin level for IDA - Monitor for symptoms of sleep apnoea (OSA) - Monitor growth using updated Down’s syndrome growth charts

Answer 39

- Contact local DS clinic, access to local parent support groups - Down syndrome association → helpline with lists of local groups, new parents pack, info for families and carers (www.downsyndrome.org.uk / National down syndrome society → events and support)

Answer 40

Occurs if perinatal asphyxia has occurred ( cardiorespiratory depression) - HIE is the neonatal condition (0.5-1 in 1,000 live births) - Cerebral palsy is the post-neonatal condition (i.e. Severe HIE that is not treated)

Answer 41

- Failure of gas exchange across placenta (i.e. placental abruption) - Interruption of umbilical blood flow (i.e. shoulder dystocia --> cord compression) - Inadequate maternal placental perfusion (i.e. maternal hypotension) - Compromised foetus (i.e. - Failure to breathe at birth)

Answer 42

Response within the first 48 hours

Answer 43

Mild = infant irritable, responds excessively to stimulation, staring eyes, hyperventilation, hypertonia - Complete recovery can be expected

Answer 44

Moderate = abnormalities of movement, hypotonic, cannot feed, has seizures - If fully resolved by 2 weeks of age, there is a good long-term prognosis - If persistent past 2 weeks, bad prognosis

Answer 45

Severe = no normal movements or response to pain, tone in limbs fluctuates hypo- to hyper-tonic, seizures prolonged and refractory to treatment, multi-organ failure may be present - 30-40% mortality - Over 80% have neurodisability (if not cooled) --> cerebral palsy

Answer 46

Supportive: - Respiratory support - Anticonvulsants (treat seizures) - Fluid restriction (transient renal impairment) - Inotropes (treatment of hypotension) - Electrolytes and glucose (treat hypoglycaemia and electrolyte imbalances) Therapeutic Hypothermia (>36w; mild hypothermia can reduce the morbidity from HIE --> requires NICU)

Answer 47

Abnormality of movement and posture, causing activity limitation attributed to non-progressive disturbances that occurred in the developing foetal or infant brain  1 in 400 live births – most common cause of motor impairment - If brain injury occurs after 2yo, it is diagnosed at acquired brain injury (and not CP)

Answer 48

Antenatal: - preterm birth, - chorioamnionitis, - maternal infection Perinatal: - LBW, - HIE, - neonatal sepsis Postnatal: -meningitis

Answer 49

HIE during delivery - ie. during cord compression --> dyskinetic CP Postnatal PVL (preiventricular leukomalacia) 2nd to ischaemia +/- severe intraventricular haemorrhage

Answer 50

- Delayed milestones (it is a progressive disease, it should not result in the loss of previously attained milestones) - Feeding difficulties (slow, gagging, vomit), oro-motor miscoordination - Abnormal gait once walking - Hand preference before 1 year old (esp. spastic unilateral CP) - Abnormal limb or trunk posture and tone in infancy  Stiff legs, scissoring of legs  Unable to lift head  Unable to weight bear  Rounded back when sitting  Hypotonia (floppy), spasticity (stiff)  Fisted hands

Answer 51

90% of CP - Damage to UMN pathway ---> ↑ tone (spasticity), brisk reflexes, extensor plantar, ‘clasp knife’ rigidity • Damage to pyramidal (also known as corticospinal) tracts • “Clasp knife” = increased tone suddenly gives under pressure • Dynamic catch → faster the muscle stretched, greater the resistance, “velocity dependent” - Presents early, even neonatally as hypotonia 3 main types of Spastic CP: (1) Unilateral / Hemiplegia → unilateral arm and leg, face spared - Presents 4-12 months with [think of an Egyptian]  Fisting of affected hand and asymmetric hand function  Flexed pronated arm  With a tiptoe walk on affected side - Initially flaccid but then ↑↑ tone - Likely normal PMHx and unremarkable birth Hx (i.e. unknown antenatal cause) (2) Bilateral / Quadriplegia – all 4 limbs, often severe - Involving trunk, opisthotonos (extensor positioning) - Poor head control - Low central tone → associated seizures, microencephaly, moderate to severe learning disability, history of hypoxic-ischemic encephalopathy (HIE) (3) Diplegia – legs affected to a greater degree (but all 4 limbs affected) - Abnormal walking, difficulties with functional use of hands - Associated with preterm birth damage and PVL

Answer 52

4% of CP - Damage to cerebellum - Hypotonic CP, most genetically determined - Hypotonia, ataxia, mal-coordination, delayed motor development ± intention tremor

Answer 53

- MRI: offer MRI if the cause is not clear from history, developmental progress, clinical examination and cranial ultrasound (however, MRI cannot establish timing of injury) – GA or sedation is usually needed Follow-up MDT - if child has risk factors for CP, offer MDT follow-up for 2 years MDT Members: • Main Members: paediatrician, nurse, physiotherapist, OT, SALT, dietetics, psychology • Supplementary Members: orthopaedics, orthotics, visual and hearing - Possible early motor features of CP • Unusual fidgety movements or abnormal movement (asymmetry or paucity of movement) • Abnormalities of tone (includes hypotonia, spasticity or dystonia (fluctuating tone)) • Abnormal motor developing (including late head control, rolling and crawling) •Feeding difficulties - Delayed motor milestones (correct for gestational age) • Not sitting by 8 months • Not walking by 18 months • Hand preference before 1 year - Refer all children with persistent toe walking

Answer 54

- MRI: offer MRI if the cause is not clear from history, developmental progress, clinical examination and cranial ultrasound (however, MRI cannot establish timing of injury) – GA or sedation is usually needed Follow-up MDT - if child has risk factors for CP, offer MDT follow-up for 2 years MDT Members: • Main Members: paediatrician, nurse, physiotherapist, OT, SALT, dietetics, psychology • Supplementary Members: orthopaedics, orthotics, visual and hearing - Possible early motor features of CP • Unusual fidgety movements or abnormal movement (asymmetry or paucity of movement) • Abnormalities of tone (includes hypotonia, spasticity or dystonia (fluctuating tone)) • Abnormal motor developing (including late head control, rolling and crawling) •Feeding difficulties - Delayed motor milestones (correct for gestational age) • Not sitting by 8 months • Not walking by 18 months • Hand preference before 1 year - Refer all children with persistent toe walking

Answer 55

- Absence of risk factors - Family history of progressive neurological disorder - Loss of already attained cognitive or developmental abilities - Development of unexpected focal neurological signs - MRI findings suggestive of progressive (CP is classically non-progressive) neurological disorder - MRI findings not in keeping with CP

Answer 56

Information about prognosis to parents (and parental education): - Walking: children who can sit by age 2 years are likely to be able to walk unaided by 6 years old - Speech: 50% have difficulties with communication, 33% have difficulties with speech and language - Life Expectancy: the more severe the CP the greater the likelihood of reduced life expectancy - Support: • SCOPE disability charity • www.cerebralpalsy.org.uk Paediatrician – medical problems - 33% have epilepsy Physiotherapy – encourage movement, improve strength and stop muscles from losing range of motion - Speech therapy – improve language abilities - 50% have communication difficulties - 33% have speech and language Occupation therapy – identify everyday tasks that may be difficult and help make these tasks more accessible

Answer 57

Stiffness – 1st: diazepam, 2nd: baclofen Sleeping – melatonin Constipation – Movicol Drooling – anticholinergic

Answer 58

Most common surgical emergency in newborn babies - Leads to serious intestinal injury after combination vascular, mucosal, toxic and other insults to an immature gut - Occurs due to immature/fragile bowels; RFs: PDA, pre-term - Main cause is unknown and thought to be a combination of many factors – thought to lead to a combination of poor blood flow and infection of the intestines – often begins after starting enteral feeding

Answer 59

Affects premature babies and LBW

Answer 60

- Early signs = biliary vomiting, feed intolerance - Abdomen distension - Blood-stained stool - Rapid deterioration and shock

Answer 61

- AXR – ‘gas cysts’ in bowel wall | - Blood cultures

Answer 62

Use 'Bell staging' to decide the management: - Bowel rest (NPO (stop oral feed) and switch to parenteral nutrition) - Broad-spectrum antibiotics (cefotaxime/tazocin and vancomycin) - Stage IA/IB (3 days), stage IIA (7-10 days), stage IIB, III (14 days) - Laparotomy (if perforated as seen on AXR)

Answer 63

- 20% mortality/morbidity in the acute scenario - Development of strictures - Malabsorption (if extensive bowel resection is necessary)

Answer 64

- Physiological Hb release from RBC (high [Hb] at birth) - Breast milk jaundice (only >24hrs) - RBC lifespan of 70 days rather than 120 days in adults - BR metabolism less efficient in 1st few days of

Answer 65

uBR --> deposit in basal ganglia --> kernicterus (a form of encephalopathy): - Once albumin saturated and free uBR circulates (fat-soluble) - crosses BBB and accumulates - Causes spectrum from severe damage --> death; signs & symptoms: • Lethargy, poor feeding • Irritability • Increased muscle tone (arched back) • Seizures and coma - May develop into cerebral palsy (dyskinetic), learning difficulties and sensorineural deafness - Was a major problem with Rhesus disease of the newborn (not so much now with anti-D prophylaxis) - Prevented with phototherapy ± IVIG, and exchange transfusion if required Visible jaundice seen at 80umol/L - uBR (fat soluble) --> kernicterus - cBR (water soluble) --> dark urine, pale stools

Answer 66

- Phototherapy only works on uBR (converts uBR to lumirubin and photobilirubin) and not cBR. - If you give phototherapy and ‘bronzing’ occurs, then the child has cBR and not uBR and the phototherapy should be stopped.

Answer 67

This is abnormal: - direct (total) BR/SBR (as total BR is UBR) - blood film analysis - transcutaneous not appropriate

Answer 68

This can be normal: - transcutaneous levels of BR (interpret at UBR as not likely CBR) - blood film analysis

Answer 69

This can be normal: | - check direct and indirect serum BR (check if it is UBR or CBR)

Answer 70

- >14 days if term | - >21 days if preterm

Answer 71

- Visually inspect the child Measure bilirubin: • <24 hours --> serum BR (direct = total BR and indirect = uBR) so can assume tBR = uBR • 24 hours to 2 weeks --> transcutaneous BR, can assume TC-BR = uBR - Non-invasive – uses spectroscopy to measure light reflection from the skin - If the result is >250 μmol/L, check the result by measuring serum bilirubin • >2 weeks --> split serum BR (direct = total BR, indirect = uBR)

Answer 72

Increased risk if: • Serum bilirubin >340 μmol/L in babies >37 weeks’ gestation • Rapidly rising bilirubin of >8.5 μmol/L per hour • Clinical features of kernicterus (poor feeding, extreme lethargy, hypotonia, high-pitched cry)

Answer 73

TC or serum BR must be taken within 6 hours of presentation (admit if <24hrs or >7 days): - Haematocrit - Blood group of mother and baby - DAT test (Coombs; if <24hrs) - FBC / blood film (e.g. hereditary spherocytosis) - G6PD levels (ethnic origin) - MC&S of blood, urine and/or CSF (if suspected infection) - TSH, LFTs - Osmotic fragility (hereditary spherocytosis)

Answer 74

- No treatment needed if high cBR (1) Phototherapy (converts uBR into water-soluble pigment excreted in urine) ± IVIG (ABO/Rh haemolysis) - If 350 total serum BR in term baby - If 120 total serum BR in premature baby - Repeat BR measurement every 4-6 hours (until drops below threshold or stable) - Ensure short breaks for breastfeeding - Protect eyes - Monitor temperature - Stop once BR >50umol/L below threshold for treatment - Check for rebound hyperbilirubinaemia with serum BR measurement 12-18 hours after (2) IVIG used alongside in cases of: - Rhesus disease - Lower albumin --> lower ability to bind BR - ABO incompatibility - Leaky BBB

Answer 75

- Rapidly rising serum BR - Serum BR within 50umol/L of exchange transfusion threshold (after 72hrs of life) - BR level fails to respond after 6 hours of therapy

Answer 76

- If 450 total serum BR in term baby - If 230 total serum BR in premature baby - If signs of kernicterus Make sure to give folic acid to prevent anaemia

Answer 77

- High RR (>60) - Laboured breathing - Chest wall recessions - Nasal flaring - Expiratory grunting (PAP) - Cyanosis (if severe)

Answer 78

- Commonest cause of resp distress in infants (most common in C-section babies) - delayed resorption of lung fluid

Answer 79

- Cyanosis, high RR (i.e. >60) - CXR → fluid in horizontal fissure - Diagnosis made after exclusion of other causes

Answer 80

- Usually settles within first day of life | - Additional O2 if required

Answer 81

- Life threatening and usually associated with birth asphyxia, meconium aspiration, septicaemia, RDS (may also be primary) - A result of the high pulmonary vascular resistance --> right to left shunting within lungs and at atrial and ductal levels

Answer 82

- Cyanosis after birth | - Absent heart murmurs and signs of HF

Answer 83

- CXR = normal sized heart but some pulmonary oligaemia | - Echocardiogram (urgent) = ensure no cardiac defect

Answer 84

Medications: - O2 - NO (inhaled) - Sildenafil Ventilation: - Mechanical ventilation / circulatory support - High-frequency (oscillatory) ventilation - (SEVERE) Extracorporeal membrane oxygenation (ECMO) ± heart and lung bypass

Answer 85

Chronic lung disease of prematurity - CLD occurs when infection, barotrauma or iatrogenic injury causes chronic lung problems - Lung damage due to pressure and volume trauma from artificial ventilation, O2 toxicity, and infection - Often defined by an O2 dependence ≤36w GA

Answer 86

- Premature infants, increased risk in LBW or low GA

Answer 87

- Classically 23-26w progresses from ventilation to CPAP to supplementary O2 - Initially positive response which increases in O2 and ventilatory requirements in first 2 weeks of life - Signs of respiratory distress, poor feeding, poor weight gain

Answer 88

- CXR --> widespread opacification | - CBG or VBG --> acidosis, hypercapnia, hypoxia

Answer 89

- Respiratory support = prolonged artificial ventilation --> wean to CPAP --> wean to additional O2 - (±) Corticosteroid therapy – dexamethasone for short term clinical improvement (limit use due to concern about abnormal neuro development and other adverse effects)

Answer 90

- if baby does not need intubation or ventilation, it is important to minimise ventilation-associated lung injury using strict monitoring and maintaining of tidal volume

Answer 91

Respiratory distress syndrome | - Deficiency of surfactant (phospholipids and proteins produced by type II pneumocytes)

Answer 92

Male, DM mothers (due to delayed lung maturation), CS, 2nd born of premature twins Common if born <28 weeks gestation

Answer 93

At delivery or within 4 hours of birth: - High RR (>60) - Laboured breathing with recessions and nasal flaring - Expiratory grunting (baby trying to make +ve airway pressure) - Cyanosis (if severe)

Answer 94

- Clinical diagnosis - Pulse oximetry - CXR --> pneumothorax (from ventilation), ‘ground-glass’ appearance, indistinct heart border

Answer 95

- Steroid therapy (delivery <34w) | - Tocolytic therapy so steroids have at least 24 hours to work

Answer 96

- O2 and ventilation - CPAP or artificial ventilation (via a tracheal tube may be necessary ± exogenous surfactant) - Other options: mechanical ventilation, high-flow humidified oxygen therapy

Answer 97

- Can occur from RDS (or from the ventilation used to treat RDS) --> pulmonary interstitial emphysema Ventilation-Associated Pneumothorax: to prevent pneumothoraces, infants should be ventilated with the lowest pressures that provide adequate chest movement and blood gasses

Answer 98

- Immediate decompression - O2 therapy - Chest drain if tension pneumothorax

Answer 99

- respiratory distress in the newborn due to presence of meconium in trachea (causing mechanical obstruction and/or chemical pneumonitis --> pneumonia/infection) → occurs exclusively in immediate neonatal period

Answer 100

Increased risk with gestational age

Answer 101

- GA >42 weeks - Maternal history of HTN/PET/smoking/substance abuse - Fetal distress/hypoxia - Oligohydramnios - Meconium stained amniotic fluid - Chorioamnionitis

Answer 102

Respiratory distress – increased RR, chest retraction and hypoxia

Answer 103

- CXR (diagnostic) --> overinflated lungs, patches of collapse and consolidation - Pneumothorax (from air leak) - Pneumomediastinum (from air leak) - FBC/CRP/Culture

Answer 104

- Observation = normal term infant with meconium-stained amniotic fluid but no history of GBS - IV ampicillin and IV gentamicin = features of infection - O2 and NIV (i.e. CPAP) = severe cases

Answer 105

- thick, sticky meconium that has a prolonged passing time - Meconium usually passes within 24hrs of delivery, if not, there may be an ileus - The child may vomit the meconium instead of passing it as stool - Associated with Cystic Fibrosis (90%) and biliary atresia - 1 in 25,000 babies get an ileus

Answer 106

- 1st line = gastrograffin enema (N-acetylcysteine can also be used) - 2nd line = surgery

Answer 107

- NEC - Duodenal atresia - Jejunal/ileal atresia - meconium Ileus - Malrotation volvulus LOOK AT PAGE 37 OF NOTES FOR INCIDENCE< PRESENTATION AGE< DIAGNOSIS AND TREATMENT TABLE

Answer 108

- Results from failure of fusion of the frontonasal and maxillary processes; polygenic inheritance - Types: combined cleft lip and palate (45%) > isolated cleft palate (40%) > isolated cleft lip (15%) - 1 in 1000 babies

Answer 109

- Maternal antiepileptic use | - Maternal BDZ use

Answer 110

- 75% are detected 20w anomaly scan - Increased risk of secretory otitis media - Ask about feeding difficulties, weight gain (lower), hearing (otitis media)

Answer 111

o Pre-surgical concerns: - Specialised feeding - Watch out for airway problems (e.g. Pierre-Robin sequence) - Pre-surgical lip tapping, oral appliances or pre-surgical nasal alveolar moulding (PNAM) to narrow cleft o Surgery (definitive) – 3m for lip; 6-12m for palate

Answer 112

- Part of intestine moves through the left chest area – stops lungs from developing properly (Bochdalek hernia) - 85% = left-sided Bochdalek hernia --> prognosis depends on… (1) liver position, (2) lung-to-head ratio - 1 in 2000 birthda occur at 6-8 weeks of pregnancy

Answer 113

- Diagnose on routine USS or after resp distress at delivery - Concave chest at birth - Respiratory distress in the neonate (RR >60, absent breath sounds, cyanosis, etc.)

Answer 114

- intestinal obstruction, - volvulus of stomach, - acute respiratory distress --> collapse/consolidation

Answer 115

- CXR (displaced mediastinum to left, collapsed left lung, bowel loops in thorax) - Blood gas, U&Es, SpO2

Answer 116

- 1st --> NG tube and suction to prevent distension of intrathoracic bowel and allow breathing to occur - 2nd --> surgery reduction and repair --> re-expansion of lung --> TPN/ventilatory support during recover

Answer 117

- OA = malformation of oesophagus so it does not connect to stomach - TOF = part of oesophagus joined to trachea; often occurs alongside OA

Answer 118

``` Type C (90%) - Stomach acid can regurge and go into the lungs --> CLD/BPD ```

Answer 119

- polyhydramnios (no swallow), | - other developmental issues

Answer 120

- NG tube to aspirate stomach contents can quickly confirm/exclude - Gold-standard --> Gastrograffin swallow

Answer 121

- 1st = Replogle tube (drain saliva from oesophagus) | - 2nd = Surgical repair (few days of birth/neonatal) --> NICU and ventilator support

Answer 122

- Take longer to adjust to solids - Respiratory complications - GORD - Tracheomalacia - Feeding issues – stricture formation

Answer 123

Progressive fibrosis and obliteration of extra- and intra-hepatic trees --> chronic liver failure in 2 years

Answer 124

- T1 = common bile duct atresia - T2 = cystic duct atresia - T3 = full atresia (>90%)

Answer 125

Obstructive jaundice picture: - mild jaundice, pale stools, dark urine - no vomiting - Normal BW --> faltering growth - Hepatosplenomegaly

Answer 126

(raised cBR >14 days): 1st = USS --> triangular cord sign - PT / INR - LFTs (AST, ALT, ALP, GGT raised – biliary) - FBC - GOLD-STANDARD = TIBIDA isotope scan - CONFIRMATION = ERCP ± biopsy

Answer 127

- 1st line = Kasai hepatoportoenterostomy (involves ligating the fibrous ducts above the join with the duodenum and joining an end of the duodenum directly to the porta hepatis of the liver) - transplant if unsuccessful

Answer 128

- growth failure, - portal hypertension, - cholangitis, - ascites

Answer 129

- F = Fat-soluble vitamins (levels monitored) - U = Ursodeoxycholic acid promotes bile flow - P = Prophylactic ABx to prevent cholangitis (co-trimoxazole)

Answer 130

- Congenital malformation of the small bowel --> absence or complete closure of a part of its lumen

Answer 131

- polyhydramnios (impaired swallow), - Down’s (33%), - congenital cardiac abnormalities

Answer 132

- no vomiting, - potential for obstruction - ‘double bubble’ on AXR

Answer 133

- Bile-stained vomiting (jejunal or ileal atresia) – tx as intestinal obstruction until proven otherwise - Non-bilious or bilious vomiting (duodenal atresia; before or after sphincter of Oddi) - Abdominal distension

Answer 134

Bloods – LFT, total serum BR (interpret as uBR), INR, serum amino acids Urinary – organic acids, succinyl acetone, bile acids, lactate: pyruvate ratio Imaging – AXR, CXR, USS and cholangiogram, Tc-99m scan

Answer 135

ABCDE to stabilise neonate ± NG tube decompression Surgical: - Primary anastomosis or Ladd procedure if malrotation present - Need to examine entire bowel to exclude other multiple atretic segments

Answer 136

- Pulmonary aspiration - Anastomotic complications (stenosis or leak) - Proximal bowel may have abnormal peristalsis – may need prolonged post-op TPN

Answer 137

Duodenal: - <6 horus of after birth - AXR double bubble sign - Duodenoduodenostomy Jejunal/illeal: - <24 hours after birth - AXR air fluid filled - laparotomy

Answer 138

Congenital structural abnormalities of kidneys, bladder or urethra - associated with diff chromosome loci - PAX 2 gene mutation

Answer 139

- Multicystic kidneys (AR PKD) - Medullary spongy kidney - Renal agenesis - Horseshoe kidney

Answer 140

- Pelvoureteric junction (PUJ) obstruction (2nd to stenosis, atresia of proximal ureter) - Vesicoureteral reflux (VUR) – in 30% of children presenting with UTIs - Bladder outlet obstruction

Answer 141

Congenital abnormality in a neonate: - now set ears - beaked nose - prominent epicanthis folds and downward slant to eyes - pulmonary hypoplasia causing resp failure - limb deformaties

Answer 142

- Bilateral renal angesis or bilateral multicystic dysplastic kidneys - leads to reduced foetal urine - oligohydramnios leading to foetal compression

Answer 143

- oligohydramnios | - decreased foetal UO

Answer 144

- irritability, - infections - Decreased foetal urine output - Intra- abdominal mass - Haematuria - Renal calculi and failure - HTN - Hepatosplenomegaly

Answer 145

- Renal USS - DMSA scan (Tc-99m) – detect scarring & functional defects, sensitive so only >2m after last UTI (gives false +ve) - MCUG (Micturating Cystourethrogram) – visualise anatomy, see VUR and urethral obstruction, not past infancy - MAG3 renogram (Tc-99m) – dynamic scan to see MAG3 excreted from blood into urine – use furosemide - Genetic karyotyping --> Potter sequence (a sequence – renal problems ---> oligohydramnios --> problems seen)

Answer 146

Treat underlying cause ie. surgery

Answer 147

- Poor UO - Abdominal/bladder mass - Raised creatinine - Sepsis - Failure to respond <48 hours - Infection with non-E. coli organisms

Answer 148

1st --> renal USS for… - All children with an atypical UTI (USS during acute infection) - Recurrent UTI; <6m (USS during acute infection) - Recurrent UTI; >6m (USS urgent USS (<6w)) First UTI; <6m, responds to treatment (<48 hours) (USS urgent USS (<6w)) 2nd --> DMSA scan for… (cannot be <2m after last UTI) - All children with a recurrent UTI (DMSA routine (4-6m)) - Atypical UTI; <3yo (DMSA routine (4-6m)) 3rd or VUR --> MCUG/VCUG scan for… - VUR suspected on USS (Male, recurrent UTI Female, <3yo, 1st UTI) - Obstruction, trauma (Female, pyelonephritis, recurrent UTI Female, <5yo, febrile UTI)

Answer 149

Vesico-ureteric Reflux | - 30% of children presenting with UTIs

Answer 150

Ureters enter bladder perpendicularly --> shorter intramural course --> VUR

Answer 151

- MCUG to diagnose | - DMSA to check for scarring (35% of VUR develop scarring)

Answer 152

- I = reflux into ureter only, no dilatation - II = reflux into renal pelvis on micturition, no dilatation - III = mild/moderate dilation of ureter, renal pelvis and calyces - IV = dilatation of renal pelvis & calyces + moderate ureteral tortuosity - V = gross dilatation of renal pelvis & calyces + ureteral tortuosity

Answer 153

- HTN, renal osteodystrophy, UTI and calculi - Renal causes --> prognosis bad (end-stage renal failure) - Non-renal causes --> prognosis good (if treated)

Answer 154

anus closed over, in a different position or narrower than usual + fistula to skin

Answer 155

bowel has closed end at high level, does not connect with anus, usually associated with bladder/urethral/vaginal fistula

Answer 156

- No/delayed meconium --> swollen abdomen, vomiting | - If fistula – may pass stool from abnormal area

Answer 157

- Clinical | - Checked on neonatal check

Answer 158

- Surgical correction by 9m (depending on specific anomaly) --> i.e. anorectoplasty + loop stoma

Answer 159

Undescended testes

Answer 160

- Prematurity | - Normal descent by 3m of age, however, it can take up to 6m to full descend

Answer 161

Unilateral (at birth) = commonly idiopathic and will resolve spontaneously - Arrange review for 6-8 - At 6-8 weeks if still undescended, review at 3 months - At 3 months, if undescended → refer to paediatric surgeon, to be seen before 6 months of age Bilateral (at birth) = pituitary causes --> refer to paediatricians/endocrinologists for further tests - Testes descent is controlled by testosterone - If lack of testosterone, they will not descend (i.e. pituitary apoplexy) - If suggestion of a disorder of sexual development at any point (e.g. ambiguous genitalia or hypospadias) then refer to senior paediatrician for endocrinological and genetic investigation ‘Retractile’ (i.e. testes have descended but come in and out of scrotal sac) - Detect at 3m and advise annual follow-up throughout childhood - Surgical = orchidopexy (palpable testes = inguinal approach; non-palpable = laparoscopy) - Medical = ±b-hCG (analogue to LH and FSH and thus, stimulates testosterone release to stimulate descent)

Answer 162

bringing up small amounts of milk along with swallowed air, occurs in nearly all babies

Answer 163

larger, more frequent losses of food

Answer 164

forceful ejection of gastric contents

Answer 165

- GO reflux - Feeding problems - Infection - Dietary protein intolerance - Intestinal obstruction - Inborn errors of metabolism - Congenital adrenal hyperplasia - Renal failure If chronic: - gastro-oesophageal reflux or feeding problem (overfeeding, force feeding) If transient: - gastroenteritis, URTI - Exclude meningitis or UTI - If bile stained, exclude intestinal obstruction – intussusception, malrotation, strangulated inguinal hernia

Answer 166

- Gastroenteritis - Appendicitis - Intestinal obstruction - Increased ICP - Coeliac - Renal failure - Testicular torsion

Answer 167

- Gastroenteritis - Infection - Peptic ulcer - Appendicitis - Migraines - Increased ICP - Coeliac disease - Renal failure - DKA - Alcohol/drugs - Cyclical vomiting syndrome - Bulimia/anorexia - Pregnancy - Testicular torsion

Answer 168

- Hirschsprung’s, - anorectal abnormality, - hypothyroid, - hypercalcemia, - idiopathic

Answer 169

- toilet training issues, - stress, - following acute febrile illness

Answer 170

- If long standing, rectum becomes overdistended | - Loss of feeling the need to defecate → involuntary soiling with overflow

Answer 171

- Dis-impact with stool softeners (macrogol laxative → Movicol) with an escalating dose regime over 1-2 weeks - If unsuccessful, consider stimulant laxative – Senna - Then use maintenance therapy – Movicol - Increase fluids and balanced diet with increasing fibre - Make sure to engage with child – ICE, star reward chart

Answer 172

1. Did they poo in the first 24 hours of life? - Majority of children who don’t will have an underlying gut problem, but by 48h 90% will 2. Diet and water – how much do they drink? - Good hydration needed for meds to work and normal stool to form

Answer 173

- GOR = due to inappropriate relaxation of LOS (functional immaturity) --> most resolve - If persistent, can be due to GORD

Answer 174

- Clinical diagnosis - 24hr LOS pH monitoring (should remain mostly above 4) - OGD

Answer 175

Referral: - same day if haematemesis, malaena or dysphagia Assessment by paediatrician if: - Red flag symptoms - Faltering growth - Unexplained distress - Unresponsive to medical therapy - Feeding aversion - Unexplained IDA - No improvement after 1 year of age - Suspected Sandifer's syndrome Refer if there are complications: - Recurrent aspiration pneumonia - Unexplained apnoea - Unexplained epileptic seizure-like events - Unexplained upper airway inflammation - Dental erosion with neurodisability - Recurrent acute otitis media

Answer 176

Reassure (very common condition) --> may be frequent, less frequent with time, resolves by 12m Review infant or child if: - Projectile regurgitation - Bile-stained or haematemesis - New concerns (e.g. faltering growth, feeding difficulties) - Extend beyond 1 year Initial Management (no positional management – MUST sleep on back): - If breast-fed: 1. breastfeeding assessment 2, consider trial of alginate for 1-2 weeks 3. pharmacological - If formula-fed: 1. review feeding history 2. trial smaller, more frequent feeds (aim for 150-180 mL/kg/day) 3. trial of thickened formula (e.g. containing rice starch --> Enfamil, Carabel) 4. trial of alginate therapy (stop periodically to see if infant has recovered) 5. pharmacological

Answer 177

Pharmacological Management (only done in certain circumstances): 4-week PPI/H2 antagonist trial – in children unable to describe symptoms or ≥1 of: - Unexplained feeding difficulties (refusing feeds, choking) - Distressed behaviour - Faltering growth - Children complaining of persistent heartburn, retrosternal or epigastric pain Mnemonic (order): G - Gaviscon (a form of alginate therapy) O - Omeprazole R - Ranitidine D - Dunno, so refer to get metoclopramide

Answer 178

- hypertrophy of the pyloric muscle causing gastric outlet obstruction - Presents at 2-8 weeks of age, (boys > girls at 4: 1) - Aetiology = hypertrophy of circular muscles of the pylorus (Associated with Turner’s syndrome)

Answer 179

- Projectile Vomiting (increases in frequency and forcefulness over time, ultimately becoming projectile) - Occurs ~30 minutes after a feed - NON-BILIOUS - Palpable ‘olive’ mass in RUQ - Visible peristalsis in upper abdomen - Hunger --> dehydration --> loss of interest in feeding --> weight loss + depressed fontanelle Hypochloraemia hypokalaemic metabolic alkalosis (low [Cl-], low [H+]; low [K+] and [Na+]): - HCO3- is elevated (metabolic alkalosis; H + HCO CO2 and H2O) - May progress to a dehydrated lactic acidosis (opposite biochemical picture)

Answer 180

- Test feed  observe for gastric peristalsis | - USS confirmation – target lesion, >3mm thickness

Answer 181

- IV slow fluid resuscitation + correct any disturbances = 1.5x maintenance rate +5% dextrose + 0.45% saline - Laparoscopic Ramstedt pyloromyotomy

Answer 182

- Describes a common (40% of babies in the first few months of life) symptom complex - manifests as random inconsolable crying and drawing up on the hands and feet - resolves by 3-12 months

Answer 183

- Soothe infant – hold with gentle motion, optimal winding technique, white noise - If persistent → consider cow’s milk protein allergy or reflux, consider: (1) 2-week trial of whey hydrolysate formula; followed by (2) 2-week trial of anti-reflux treatment Support: - Self-help support group www.cry-sis.org.uk for families with excessive crying or sleepless children - Get support from health visitor, family, friends and other parents

Answer 184

- inflammation of the appendix | - Feacolith more common in pre-school children (see on AXR) and perforation more common

Answer 185

- Anorexia, vomiting, nausea, umbilicalRIF pain | - Fever, tenderness, etc

Answer 186

- FBC, pregnancy test (if female) - Clinical (watchful waiting observation) - AXR ± CTAP

Answer 187

G - Group and save A - ABx, IV M - MRSE screen E - eating avoid (NMB) Appendiectomy

Answer 188

Invagination of proximal bowel into distal component; 95% ileum through to caecum through ileocecal valve (ilio-colic) Stretching and constriction of the mesentery --> venous obstruction --> engorgement and bleeding from the bowel mucosa, fluid loss --> bowel perforation, peritonitis and gut necrosis

Answer 189

- idiopathic, - enlarged Peyer’s patches after gastroenteritis, - lead points, - hypertrophy (CF)

Answer 190

- lymphoma, - gastroenteritis (viral illness enlarges Peyer’s patches), - HSP, - CF

Answer 191

- 3m - 2 years - (rarely < 3m) - Males 2x more than females

Answer 192

- Colic (draw into a ball) - Vomit (may be bile stained depending on the site of the intussusception) - Late sign: red-currant jelly stool (bloody mucus) - Abdominal distension in RUQ (± sausage-shaped mass) and shock - Dance sign = emptiness on palpitation in RLQ

Answer 193

- 1st line: Abdominal USS --> “Target Mass” - 2nd line: Abdominal X-Ray --> paucity (less) of air in RUQ + large bowel, thickened wall (oedema), poorly defined liver edge, dilated small bowel loops - 3rd line: barium (or gastrograffin) enema

Answer 194

EMERGENCY + drip and suck - 1st line = rectal air insufflation / barium/gastrograffin enema - Process = light GA, barium trickled in <30cmH2O, assess location + treat - Broad-spectrum antibiotics --> Clindamycin + gentamicin; OR Tazocin; OR Cefoxitin + vancomycin - 2nd line (perforation) = surgical reduction with broad-spectrum antibiotics [if perforated]

Answer 195

consider investigating for a lead point (Meckel's diverticulum, polyps, appendix)

Answer 196

An ileal remnant of the vitello-intestinal duct on anti-mesenteric border containing ectopic gastric mucosa (i.e. can form gastric ulcers that bleed) or pancreatic tissue – as the child was developing, a small pouch formed elsewhere in the body

Answer 197

Between 1 and 2 years olf

Answer 198

- PAINLESS MASSIVE PR bleeding (dark red) - May present in addition to intussusception, volvulus or diverticulitis - May show bilious vomiting, dehydration, intractable constipation

Answer 199

- Technetium scan (Meckel’s scan) indicates increased uptake by gastric mucosa in 70% of cases - AXR or abdominal USS ± laparoscopy

Answer 200

Incidental imaging finding – NO treatment required)

Answer 201

- Bleeding – excision of the diverticulum with blood transfusion (if haemodynamically unstable) - Obstruction – excision of diverticulum and lysis of adhesions - Perforation/peritonitis – excision or small bowel segmental resection with perioperative antibiotics Antibiotics: Cefotaxime, clindamycin/metronidazole

Answer 202

(1 to) 2-years-old 2% population 2x more common in boys 2 feet from ileocecal valve (2 feet for adult) 2 inches long 2 different mucosae (gastric and pancreatic)

Answer 203

Predisposition to volvulus if mesentery is not fixed to duodenal flexure or ileo-ceacal region (can occur during rotation of the GI tract during foetal development --> shorter base w/volvulus ± Ladd bands obstruct duodenum --> biliary vomiting)

Answer 204

- exomphalos, | - congenital diaphragmagmatic hernia

Answer 205

- Asymptomatic and present at any age with volvulus; OR - Present in first few days of life with: - Obstruction - Obstruction + compromised blood supply - Symptoms = abdominal pain, bilious vomiting, peritonism, etc. - Scaphoid abdomen (i.e. concave abdomen)

Answer 206

- Upper GI contrast study (URGENT) to assess patency if bilious vomiting - USS

Answer 207

- Urgent laparotomy (Ladd’s procedure if signs of vascular compromise) - Untwist volvulus, mobilise duodenum, place bowel in non-rotated position and remove necrotic bowel

Answer 208

- Altered GI mobility and abnormal sensation ± psychosocial stress and anxiety effect - Often a FHx component; Coeliac’s must be excluded; symptoms may be precipitated by GI infection

Answer 209

- Abdominal pain – often worse before or relieved by defecation - Explosive loose or mucus stools - Boating - Feeling of incomplete defecation – tenesmus - Constipation

Answer 210

- Rotavirus infection = MOST COMMON CAUSE (60%) - Campylobacter jejuni = Severe abdominal pain, bloody stool - Shigella / Salmonella = Blood/pus in stool, pain, tenesmus, fever - Cholera / E. coli = Dehydrating diarrhoea - CHESS organisms = bloody diarrhoea (Campylobacter, Haemorrhagic E.coli, Entamoeba histolytica, shigella, salmonella)

Answer 211

- Sudden change to loose-stools and accompanied by vomiting (potential travel history) - Complications → dehydration → shock (increased risk if…: <6m, >2 vomits in <24 hours, cannot tolerate extra fluids or malnourishes, >5 diarrhoeal stools in <24 hours)

Answer 212

- AXR and exclude other causes | - Stool sample analysis --> young/viral cause = stool electron microscopy; older/bacterial cause = stool culture

Answer 213

Give rehydration advice: Maintenance fluid volumes: • 0-10 kg = 100ml/kg • 10-20kg = 1000ml + 50ml/kg for each kg over 10kg • 20+ kg = 1500ml + 20ml/kg for each kg over 20kg Modes of rehydration: • <5yo = 50 ml/kg IV fluids over 4 hours as well as maintenance with oral rehydration solution • 5+ years = 200 mL after each loose stool Do not drink sugary or carbonated drinks (sugar in the gut can draw excess water into the gut) Do not give anti-diarrhoeals to <5yo

Answer 214

- Campylobacter - Listeria - E. Coli )157 - Shigella - Salmonella

Answer 215

- Diarrhoea: usually 5-7d, most stop within 2 weeks | - Vomiting: usually 1-2d, most stop within 3 days

Answer 216

o Weight loss is the most accurate marker - No clinically detectable dehydration (<5% loss of body weight) - Clinical dehydration (5-10%) - Shock (>10%) o Can use clinical signs to estimate degree of dehydration

Answer 217

Full OF SALT ``` Flushing Oedema Fever Seizures Agitation / jittery movements Low urine output Thirst ```

Answer 218

SALT LOSS ``` Stupor Anorexia (+ N&V) Limp tone Tendon reflexes reduced Lethargy Orthostatic hypotension Seizures Stomach cramps ```

Answer 219

Clinical Examination (likely viral cause): - U&E and FBC - Stool M&C (only if BLOODY diarrhoea – CHESS organisms)

Answer 220

Over 24 hours… = maintenance + dehydration: - Oral rehydration solution --> clinical dehydration (Oral rehydration solution contains glucose --> absorption in gut --> water follows glucose absorption) - IV fluids --> shock / deterioration / persistent vomiting / sick child

Answer 221

Bolus fluids (these don’t need to be subtracted from the dehydration corrections): - 20mL/kg 0.9% NaCl over 15 minutes (most situations, new DKA guidelines) - 10mL/kg 0.9% NaCl over 60 minutes (trauma, fluid overload, heart failure, old DKA guidelines)

Answer 222

Over 24 hours: Add to maintenance fluids: 1st - weight child (or estimate weight) 2nd - calculate weight lost from fluids

Answer 223

- 5% dextrose (do not use in boluses; do not use in immediate maintenance in DKA) - 0.9% sodium chloride (as per below) "4:2:1" approach - 4 x = 10kg + - 2 x = 10kg + - 1 x = 10kg = TOTAL ml/hour - E.G. 70kg (10, 10, 50) = “4 x 10” + “2 x 10” + “1 x 50” = 110mL/hour (2,640mL/day so 2,500mL/day as max for boys and 2,000mL/day for girls)

Answer 224

- Day 0: 60 ml/kg/day - Day 1: 90 ml/kg/day - Day 2: 120 ml/kg/day - For term neonates use isotonic crystalloids with 10% dextrose I.E. 2.5kg neonate at day 2 fed 3 times a day I.E. 2.5*120 = 300 over 24 hours --> 300/8 = 37.5mL per 8-hourly feed

Answer 225

- Oral rehydration solution - If IV fluids required, take care with cerebral oedema (rapid reduction in plasma sodium concentration and osmolality will lead to a shift of water into the cerebral cells and may result in seizures and cerebral oedema) - Fluid deficit replaced over at least 48 hours and the plasma sodium should be measured regularly

Answer 226

o Ineffective o May prolong the excretion of bacteria in the stools o Can be associated with side-effects o Add unnecessarily to cost o Focus attention away from oral rehydration

Answer 227

o Not routinely required to treat gastroenteritis (even if the cause is bacterial) o Only indicated for: - Suspected or confirmed SEPSIS - Extra-intestinal spread of bacterial infection - Salmonella gastroenteritis if < 6 months - Malnourished or immunocompromised children - Specific bacterial or protozoal infections • C. difficile associated with pseudomembranous colitis • Cholera, shigellosis, giardiasis

Answer 228

o After gastroenteritis --> introduction of a normal diet results in a return of the watery diarrhoea o Treatment: oral rehydration therapy

Answer 229

* Affects any part of the GI tract mouth to anus | * Transmural and most commonly affects the distal ileum and proximal colon

Answer 230

o Abdominal pain, diarrhoea, weight loss o May see growth failure, delayed puberty, fever, lethargy, aphthous ulcers, perianal skin tags o Uveitis, arthralgia, erythema nodosum o Complications → inflamed thickened bowel is susceptible to strictures and fistulae

Answer 231

- Biopsy = non-caseating epithelioid cell granulomata - FBC (including iron, B12 and folate) - CRP and ESR - Faecal calprotectin - Upper GI and small bowel contrast scan - Colonoscopy and biopsy (cobblestones) - Assess impact on daily functioning (anxiety, depression) - Stopping smoking (reduce risk of relapse) - Assess risk of osteoporosis

Answer 232

1st) Induce remission: - Nutritional management --> effective in 85-100% patients (crohns.org) • Replace diet with whole protein modular diet – excessively liquid, for 6-8 weeks • May need NG if the child struggles to drink that much • Products are easily digested, provide all nutrients needed to replace lost weight - Pharmacological management --> steroids (prednisolone) may be used to induce remission 2nd) Maintain remission – you can use steroids, but these have long-term consequences… - Aminosalicylates (e.g. mesalazine) - Immunosuppressive drugs (azathioprine, methotrexate, mercaptopurine) • Azathioprine cannot be given to people with a TPMT mutation • Must not have live vaccines • Must have pneumococcal and influenza vaccines - Anti-TNF antibodies in biologic therapies (e.g. infliximab) - Medical therapies require monitoring of biochemical measures (e.g. ferritin, B12, calcium and vitamin D) o Surgery for complications – obstruction, fistula, abscess, severe localized disease unresponsive to treatment o SUPPORT → www.chronsandcolitis.org.uk – has information leaflet and grants available (Educate on features of flare-ups)

Answer 233

Partial thickness, distal to proximal, crypt damage, ulceration o Classic presentation is rectal bleeding, diarrhoea, abdominal pain o Weight loss and growth failure o Erythema nodosum, arthritis

Answer 234

- PSC - Toxic megacolon - Perforation - Enteric arthritis - Haemorrhage - Bowel cancer

Answer 235

(Faecal calprotectin screens for IBD in general) o Endoscopy and histological features: - Confluent colitis extending from rectum proximally - Histology = mucosal inflammation/ulceration, crypt damage (abscesses, loss, architectural distortion) - Small bowel imaging to check extra-colonic inflammation (Crohn’s) is not present o In children, 90% have pancolitis ``` o Severity graded using: - Paediatric Ulcerative Colitis Activity Index (PUCAI) (N.B. be aware of coexistent depression) • Severe = >65 points • Mild-Moderate = 10-64 points - Truelove and Witts score ```

Answer 236

1st line: topical --> oral aminosalicylates – if no improvement 4 weeks after starting, move to oral, then 2nd line - Often used to maintain remission - Can use oral azathioprine or mercaptopurine if aminosalicylates insufficient 2nd line: topical --> oral corticosteroid (i.e. if aminosalicylates not tolerated/contraindicated) - Prednisolone - Beclomethasone 3rd line: oral tacrolimus 4th line: biological agents (infliximab, adalimumab and golimumab) 5th line (resistant disease) --> surgery (colectomy with ileostomy or ileojejunal pouch)

Answer 237

- UC is associated with an increased risk of bowel cancer - Crohn’s and Colitis UK - Regular screening performed after 10 years of diagnosis

Answer 238

EMERGENCY: Severe ulcerative colitis is defined by more than eight bloody stools daily and evidence of toxicity, demonstrated by fever, tachycardia, anemia, or an elevated erythrocyte sedimentation rate. - MDT approach (medics and surgeons) - IV corticosteroids or ciclosporin and assess likelihood of needing surgery --> Increased likelihood of needing surgery if: • Stool frequency > 8 per day • Pyrexia • Tachycardia • AXR showing colonic dilatation • Low alb, low hb, high platelets or CRP - Consider IV ciclosporin (if IV corticosteroids are contraindicated or ineffective)

Answer 239

Toddler diarrhoea = chronic and non-specific diarrhoea - Commonest cause of loose stools in preschool kids - Underlying maturational delay in intestinal mobility --> increased intestinal hurry (not malabsorption)

Answer 240

- Varying consistency stools (well-formed to explosive and loose ± presence of undigested vegetables in stool) - Child is well and thriving (no precipitating dietary factors and normal examination)

Answer 241

- Increased fibre and fat in diet (whole milk, yoghurts, cheeses) --> relieve symptoms - Avoid fruit juice and squash

Answer 242

1) Advise behavioural interventions (scheduled toileting, bowel habit diary, reward system) • Sit on the toilet after mealtimes to utilise the physiological gastrocolic reflex • Behavioural interventions (e.g. star chart) may be useful to aid motivation and keep a record - Advise diet and lifestyle advice (adequate fluid intake) 2) Medications --> disimpaction or mild constipation: • Step 1: Movicol Paediatric Plain (polyethylene glycol + electrolyte) escalating dose for 2 weeks o Disimpaction inadequate response --> add a stimulant laxative o Mild constipation --> maybe add a stimulant laxative • Step 2: Maintain for 6 months

Answer 243

1st line: Osmotic = Polyethylene Glycol 3350 (Movicol Paediatric Plain), lactulose 2nd line: Stimulant: Bisacodyl, Senna, sodium picosulphate Bulk-forming: fybogel, methylcellulose Stool-softener: arachis oil, docusate sodium ( Emphasise that laxative use is safe, even in the long-term, Underuse is the most common cause of treatment failure)

Answer 244

An absence of ganglion cells from the myenteric (Auerbach) and submucosal (Meissner’s) plexuses; begins at the rectum and spreads proximally for a variable distance (75% rectosigmoid), ending at normally innervated, dilated colon Complications: meconium plug syndrome, Hirschprung’s enterocolitis (perforated colon) Risk factor = Down’s, MEN2a, del(chr10), male

Answer 245

- Failure to pass meconium <24hrs --> abdominal distension, bile-stained vomiting - Explosive passage of liquid/foul stools - May present later in first few weeks of life with severe, life-threatening Hirschsprung enterocolitis (C. diff)

Answer 246

Initial --> AXR (if obstruction), contrast (barium) enema (dilated distal segment + narrowed proximal segment) Definitive --> suction-assisted full-thickness rectal biopsy --> absence of ganglion cells, ACh +ve nerve trunks

Answer 247

- 1st line (initial management) = bowel irrigation - 1st line (after) = Endorectal pull-through – colostomy followed by anastomosing normally innervated bowel - Total colonic agangliosis would require initial ileostomy with later corrective surgery Other procedures = recto-sigmoidectomy, retro-rectal trans-anal pull-through, and ano-rectal myomectomy --> I.E. Swenson, Duhamel, Soave procedures

Answer 248

Tears in skin around the anus, usually as a side effect of constipation → sphincter stretches to allow hard dry stool out

Answer 249

o Painful passing of stool | o Bright red blood on tissue (can examine for fissures)

Answer 250

- Conservative --> ensure stools are soft and easy to pass: - Increase dietary fibre (include foods containing whole grains, fruits and vegetables) - Increase fluid intake - Manage pain – simple analgesia; sit in shallow, warm bath • Topical anaesthetics can be used (i.e. lidocaine) or GTN ointment - Anal hygiene - Advise against stool withholding Consider constipation treatment pathway SAFETY NET: seek further help if not healed within 2 weeks

Answer 251

- extreme itching around the anus or vagina, particularly at night - irritability and waking up during the night - worms seen in poo and backend of anus

Answer 252

Single dose of an anti-helminth (e.g. mebendazole / “Ovex”) for the whole household - The dose may be repeated in 2 weeks if the infection persists - Advise rigorous hygiene for 2 weeks if on mebendazole or 6 weeks if using hygiene measures alone: • Hand washing • Cut fingernails regularly, avoid biting nails and scratching around anus • Shower each morning, including the perineal area, to remove eggs from skin • Change bed linin and nightwear daily for several days after treatment (don’t shake bedsheets) • Thoroughly dust and vacuum Exclusion from school/nursery is NOT required Children <6 months should be treated with hygiene measures alone for 6 weeks (seek advice from ID specialist) Consider treating all household contacts (threadworm is highly transmissible)

Answer 253

Mainly in children <15yo; recent viral/bacterial infection --> common cause of abdominal pain

Answer 254

- Abdominal pain – central or RIF - Nausea ± diarrhoea, ↓ appetite - INFECTIOUS picture: high temperature, lymphadenopathy, ↑WCC often preceded by UTI

Answer 255

- Large mesenteric lymph nodes seen at laparoscopy (w/ normal appendix) --> definitive - Diagnosis of exclusion (as laparoscopy is a bit much…) --> exclude appendicitis (bloods, urine MC&S)

Answer 256

- Simple analgesia (symptoms usually resolve in a few days, maximum 2 weeks) - Antibiotics (maybe, but not routine) - Safety net for increased pain, deterioration, etc.

Answer 257

Lactase deficiency (lactose → glucose and galactose) --> lactose ferments in gut --> ↑ waste gas --> pain and bloating o RFs: FHx, ethnicity o Affects up to 75% of world’s population (less Caucasian, more Asian, African and Hispanic)

Answer 258

Primary (70%) / AR → deficient lactase (Asian, African, Hispanics) Secondary (30%) → damage to gut, temporary lactase deficiency (gastroenteritis, Crohn’s, coeliac, alcoholism) - I.E. previous bout of gastroenteritis and full resolution with persistent diarrhoea from temporary damage Exclude: gastroenteritis (stool sample), Crohn’s (faecal calprotectin, colonoscopy) Coeliac’s (anti-tTG/EMA)

Answer 259

- wind, - diarrhoea, - bloating with lactose ingestion, - abdominal rumblings - pain

Answer 260

- Clinical diagnosis (trial lactose-free diet for 2 weeks and see how symptoms are) - Breath hydrogen test:  Normal = unabsorbed CHO fermented by large intestine GIT bacteria to produce H2 which is absorbed by the blood and exhaled from the lungs a period of time after initial ingestion  Pathology = GIT bacteria extend to small intestine from large intestine (due to overgrowth) and CHO metabolism occurs earlier in digestion leading to an earlier rise in exhaled H2 following CHO ingestion - Lactose intolerance test (outdated):  Lactose ingested after fasting and a lack of a rise in blood sugar is noted - FBC (rule out secondary disease --> anaemia, ↑WCC)

Answer 261

- Dietician referral - Avoid milk and dairy products --> provide calcium and vitamin-D supplementation For primary LD: - Experiment with diet – different with each child, need to discover individual lactose threshold - Potential foods: • High-fat dairy (lower lactose) • Hard cheeses • Milk substitutes (almond, soya, coconut) For secondary LD: - Cut out dairy and allow gut time to heal - May need Ca2+ and Vitamin D supplements - Digestive enzymes can be taken in a capsule before eating lactose until gut heals/matures

Answer 262

Autoimmunity to gliadin (in gluten, wheat, barley and rye) --> shorter villi and flat mucosa Damage to proximal small intestinal mucosa --> rate of migration of absorptive cells moving up the villi (enterocytes) from the crypts is massively increased but insufficient to compensate for increased cell loss from the villous tips o Common; 1% of infants o HLA DQ2 (95%) and DQ8 (80%) association

Answer 263

Malabsorption syndrome (failure to thrive, abdominal distension, bloating, irritability) - Presents 8-24m after introduction of wheat-foods - May present later with non-specific GI symptoms Malnutrition (check weight, height, BMI) --> wasted buttocks and distended abdomen Pathogenomic = dermatitis herpetiformis (pruritic papulovesicular elbow/knee rash)

Answer 264

Serological diagnosis: - Most sensitive = IgA tissue transglutaminase (anti-tTG) - Less sensitive = IgA anti-endomysial cell antibodies (anti-EMA) - If IgA deficient --> IgG DGP / Deiminated Gliadin Peptide FBC and blood smear (iron deficient, vitamin B12/folate deficient, vitamin D deficient) Confirmation of diagnosis (n.b. grading with the ‘Marsh’ system): - Older children / adults --> OGD + jejunal biopsy (villous atrophy, crypt hyperplasia, ↑ IELs) - Very young children --> no histopathological confirmation / biopsy --> EMA and HLA DQ2/DQ8 testing

Answer 265

- Remove all products containing wheat, rye and barley FOR LIFE - MDT – dietician, child psychologist, school involvement, GP, paediatric gastroenterologist - Dietician referral (if problems with adhering to the diet) and annual (6-12m) review:  Regular checks of height, weight and BMI – check this at home  Review symptoms  Review adherence to diet  Consider blood tests (coeliac serology, FBC, TFT, LFT, vitamin D, B12, folate, calcium, U&E) - Support sources: Coeliac UK - Explain the importance of keeping to a strict gluten-free diet Non-adherence to diet --> micronutrient deficiency (vitamin D, iron), osteoporosis, EATL, hyposplenism

Answer 266

- indirect inguinal, - umbilical, - epigastric, - femoral

Answer 267

- During development, the testicles develop inside the abdomen and towards the end of the pregnancy, each testicle creates a passage (process vagialis) as it travels into the scrotum - Failure of this passage to close → abdominal lining and bowel protrude through defect - If bowel remains trapped → could become damaged due to increased pressure on the blood supply to the area  bowel death  serious infection and bowel disorders

Answer 268

- male, - prematurity, - connective tissue disorders

Answer 269

- hydrocele (fluid, this transluminates so use a torch to differentiate)

Answer 270

- Scrotal sac enlarged, contains palpable loops of bowel, fluid (does not always transluminate) ± pain - Swelling or bulge may be intermittent, and can appear on crying or straining

Answer 271

- Clinical diagnosis - Determine type of hernia --> examine supine and standing, try to reduce it • If incarcerated → tender, firm mass + vomiting, obstruction (unable to pass stool), poor feeding, erythematous/discoloured skin overlying • More commonly on right (60%) due to delayed descent of right testicle

Answer 272

Urgent Surgical correction (lap or open) = Elective herniorrhaphy (risk of strangulation/incarceration) • <6w old - correct within 2 days • <6m old - correct within 2 weeks • <6yo - correct within 2 months

Answer 273

- Afro-Caribbean, - Down’s, - Mucopolysaccharide diseases

Answer 274

Common in new-borns and often resolve by 12m (watch and wait are appropriate)

Answer 275

- <1yo --> watch and wait | - >1yo --> large or symptomatic = surgical repair 2-3yo; small or asymptomatic = surgical repair 4-5yo

Answer 276

wet, moist and leaks fluid --> treat with salt initially and can be later cauterised with silver nitrate

Answer 277

- Difficult to differentiate from indirect - Located below inguinal canal (through femoral canal) - Differentiation often made during operation - S/S same as for indirect inguinal hernia

Answer 278

- paraumbilical abdominal wall defect --> abdominal contents outside body, without peritoneal covering

Answer 279

Manage with immediate surgery (cover with cling-film) “Gastro-ski-sis”

Answer 280

- bowel protruding out the body with a peritoneal covering / umbilical attached

Answer 281

- Manage with staged closure starting immediately, finishing at 6-12 months - Chromosomal abnormalities in 15% of cases (Trisomy 13 (Patau’s), 18 (Edward’s), 21 (Down’s); Turner’s

Answer 282

- soiling of underwear with stool in children who are past the age of toilet training (>4yo) - Usually due to constipation with overflow

Answer 283

- enquire about psych stressors, changes in medications, food intolerances, etc.

Answer 284

- Massive hepatic necrosis with loss of liver function ± hepatic encephalopathy - Majority from paracetamol overdose, infection and metabolic disease

Answer 285

- Jaundice - Encephalopathy (alternative irritable --> confusion/drowsiness episodes) - Coagulopathy - Hypoglycaemia - Electrolyte disturbance - Older children (aggressive, unusually difficult)

Answer 286

- LFTs – early BR normal (esp. in metabolic disease) AST/ALT (very high) ALP (high) - Liver FUNCTION = INR (using PT) - Liver INFLAMMATION = AST and ALT - Clotting – abnormal - Plasma ammonia raised - EEG and CT – acute hepatic encephalopathy and cerebral oedema

Answer 287

Referral to a national paediatric liver centre Steps to stabilise the child: - Maintaining blood glucose (> 4 mmol/L) with IV dextrose - Preventing sepsis with broad-spectrum antibiotics and antifungals - Preventing haemorrhage with IV vitamin K and H2 antagonists/PPIs - Prevent cerebral oedema by fluid restriction and mannitol diuresis - Management is dependent on the suspected cause of acute liver failure

Answer 288

- Shrinking liver - Rising bilirubin - Coma - Falling transaminases - Worsening coagulopathy

Answer 289

- Hepatic encephalopathy --> supportive, reduce N2 load (lactulose, ABx) - Cirrhosis, portal HTN --> fluid restrict, diuretics

Answer 290

anti-mitochondrial AB

Answer 291

pANCA, anti-smooth muscle AB

Answer 292

- Prednisolone and azathioprine - Sclerosing cholangitis --> ursodeoxycholic acid (aids bile flow) - Liver transplants may be considered in severe cases

Answer 293

- Zinc (blocks intestinal copper resorption) - Trientine / Penicillamine (increases urinary copper excretion) - Pyridoxine (vitamin B6; given to prevent peripheral neuropathy – improvement may take up to 12m) - Symptomatic treatment for tremor, dystonia and speech impediment - Liver transplantation - considered in children with end-stage liver disease

Answer 294

- Weight loss (and bariatric surgery) - Treatment of insulin resistance and diabetes - Statins - Vitamin E and C - Ursodeoxycholic acid (improved bile flow)

Answer 295

<1 hour --> activated charcoal --> Ix: paracetamol level ≥4 hours after ingestion --> NAC if indicated >1 hour --> Ix: paracetamol level ≥4 hours after ingestion --> NAC if indicated (NAC = N-acetylcysteine)

Answer 296

- 1st line: Pyrimethamine + Sulfadiazine for 1 year | - Adjunct: Prednisolone

Answer 297

- IM benzathine penicillin

Answer 298

- Intrauterine --> blood transfusion if foetal hydrops | - Infant --> self-limiting

Answer 299

- IV aciclovir - Neonatal ophthalmic examination - Monitored until 28 days after maternal infection

Answer 300

- Cord clamped as soon as possible and baby bathed immediately after birth - Zidovudine monotherapy for 2-4w (low/medium risk) OR 4w PEP combination (high risk) - Women not to breastfeed - Give all immunisations including BCG (unless a moderate-high risk of transmission) - PCR HIV virions at 6 and 12 weeks (at least 2 and 8 weeks after stopping prophylaxis) • Baby will have passive IgG from the mother up until at least 6 months

Answer 301

- Refer to foetal medicine unit and notify HPU - No effective treatment (rest, adequate fluids, simple analgesia) - Infant --> cardiac scans, hearing tests

Answer 302

IV ganciclovir / oral valganciclovir

Answer 303

Aciclovir (400mg, TDS) --> if neonate exposed on delivery

Answer 304

Acute HBV infection --> not dangerous Chronic HBV with cirrhosis --> IUGR and prematurity - HBV vaccination (for infants of mothers who are HBsAg positive) - Mother: Tenofovir disoproxil OR lamivudine (mothers should receive antiviral monotherapy) - No risk of transference through breastfeeding - Baby: passive immunisation in HBV IG and HBV vaccine [within 12 hours of birth]

Answer 305

GOSH child ABx: - Early onset <72 hours --> GBS and L. monocytogenes --> IV cefotaxime + amikacin + ampicillin - Late onset >72 hours --> CoNS (S. epidermidis) --> IV meropenem + amikacin + ampicillin - Mother ABx (during labour): - -> IV benzylpenicillin

Answer 306

An important cause of neonatal sepsis; mother has a mild influenza-like illness and passes to child in placenta - Can cause spontaneous abortion, PTL, neonatal sepsis - Characteristics: meconium staining of liquor in pre-term infant, widespread rash, sepsis, pneumonia, meningitis - Mortality 30%

Answer 307

- IV amoxicillin/ampicillin OR co-trimoxazole (trimethoprim contraindicated in pregnancy) - If systemic infection: IV benzylpenicillin + gentamicin

Answer 308

Systemic vasculitis; children 6m to 4yo (peak 1yo); Japanese, Black-Caribbean ethnicity

Answer 309

FEVER +/- 4/5 other features: C - Conjunctivitis R - Rash (polymorphous; begins hands/feet) A - Adenopathy (cervical lymphadenopathy) S - Strawberry tongue H - Hands & feet swollen (and desquamate/peel) Burn - Fever >5 days (not responsive to antipyretics)

Answer 310

- Diagnosis on clinical findings (no test) - FBC (inc. platelets), CRP, ESR - Echocardiography

Answer 311

ADMISSION - IVIG (within 10 days) + high-dose aspirin (reduce thrombosis risk; treatment (high) --> prophylaxis (low) dose) - Other: corticosteroids, infliximab/ciclosporin and plasmapheresis - I.E. for persistent inflammation and fever

Answer 312

Children with coronary aneurysms may require long-term warfarin and close follow-up

Answer 313

Protozoa Plasmodium, spread by female Anopheles mosquito | - Falciparum most fatal (ovale, malariae and vivax also exist)

Answer 314

- Onset 7-10 days after inoculation (<1yr) - Fever (cyclical / continuous with spikes) - D&V - Flu-like symptoms (shaking, chills, night sweats, headache, myalgia) - Jaundice, anaemia - Thrombocytopaenia - Particularly susceptible to cerebral malaria, severe anaemia

Answer 315

- 3 thick and thin blood films (thick = parasite; thin = species, parasitaemia) - Malaria rapid antigen detection tests (plasmodial HRP-II, parasite LDH)

Answer 316

Prevention: - Anti-malarial prophylaxis with quinine - Bite prevention – repellent and nets Arrange immediate admission --> Medical emergency; notify PHE (can have a RAPID deterioration) Treatment (very variable, dependant on strain, severity, tolerability, resistance): 1) Non-falciparum: - 1st line = Chloroquinine 2) Mild falciparum (Mild = if not vomiting, parasitaemia <2% and ambulant): - 1st line = ACT (Artemisinin Combination Therapy) - 2nd line = Atovaquone-proguanil (cannot give doxycycline to age <12yo) 3) Severe/complicated falciparum: - 1st line = IV Artesunate (N.B. anti-malarial drugs may precipitate G6PDD) - 2nd line = IV Quinine Primaquine (not G6PDD) for eradication of hypnozoites (dormant parasites in liver in vivax and ovale)

Answer 317

Salmonella typhi or paratyphoid

Answer 318

Faeco-oral transmission

Answer 319

GI perforation, myocarditis, hepatitis, nephritis

Answer 320

- Fever (+ bradycardia) - Headache - Cough (dry) - Anorexia (WL +++) - Malaise, myalgia - GI symptoms (by 2nd week; diarrhoea or constipation) - Splenomegaly, bradycardia, rose-spots on trunk

Answer 321

TRAVEL: Pakistan, India, Bangladesh

Answer 322

- Blood culture [diagnostic] | - Other – FBC, LFTs, stool culture

Answer 323

- 1st line = IV ceftriaxone OR IV cefotaxime | - 2nd line = PO azithromycin

Answer 324

Caused by dengue arbovirus transmitted by Aedes Aegyptii mosquito - Flavivirus - Short incubation period (~5 days) - Usually imported from SE Asia & South Africa

Answer 325

Low WCC, low plts, low Hb: o Primary infection: - Headache (retro-orbital) - Fine erythematous sunburn-like rash (50%) - High fever and myalgia o Other = hepatomegaly, abdominal distension o Severe = low WCC, low platelets, haemorrhage

Answer 326

- Gold standard – PCR viral antigen, serology IgM | - FBC, LFTs, serum albumin

Answer 327

- Supportive (fluids and monitoring) | - ITU (if increased deterioration)

Answer 328

A secondary infection: - Previously infected child --> subsequent infection (different strain) --> severe capillary leak, hypotension, haemorrhagic manifestations --> fluid resuscitation usually helps a lot - Due to partially effective host immune response augmenting the severity of the infection

Answer 329

Mumps paramyxovirus - Transmission by respiratory secretions - Long incubation period (15-24 days) - Infectious 5 days before and 5 days after the parotid swelling (should pass totally in 1-2 weeks) - Can still get infected if they have had the vaccine but likely to be reduced clinical symptoms

Answer 330

- Asymptomatic (in 30% of cases) - Headache, fever, parotid swelling - Other – pancreatitis, neuritis, arthritis, mastitis, nephritis, thyroiditis, pericarditis

Answer 331

- Oral fluid IgM sample | - Amylase is raised in the blood

Answer 332

- Notify HPU, isolate for 5 days from time of parotid swelling - Advise and educate --> supportive care (rest, analgesia and fluids) as this is a ‘viral’ infection

Answer 333

- Mumps orchitis --> infertility (very rare) - Viral meningitis --> encephalitis (very rare) - Deafness (unilateral and transient)

Answer 334

Paramyxovirus, spread through respiratory secretions - One of the most highly communicable diseases (>15 mins in direct contact is enough to transmit) - Incubation = 7-18-days - Infective period = 4 days before and 4 days after rash

Answer 335

- Prodrome: high fever, irritability, conjunctivitis/coryza ( can cause Febrile convulsions) - Maculopapular rash (face/neck --> hands/feet) - Koplik spots (small white spots surrounded by red ring in mouth) - Cough - No lymphadenopathy

Answer 336

- 1st line = Measles serology (IgM and IgG) from Oral Fluid Test – OFT - 2nd line = PCR of blood or saliva

Answer 337

- Notify HPU, isolate for 4 days after development of rash - Rest and supportive treatment (fluids, antipyretics, rest) - -> Children isolated in hospital - Immunise close contacts and encourage vaccination after acute episode

Answer 338

``` - Encephalitis (1 in 5,000) – after 1-2w: • Headaches, lethargy • Irritability  seizures • Coma = 15% death - SSPE (1 in 100,000) after 7 years • Sub-acute Sclerosing Panencephalitis • Measles dormant in the CNS • S/S: dementia and death - Otitis media (most common complication) - Pneumonia (most common cause of death) - Keratoconjunctivitis ```

Answer 339

German measles’ caused by a Togavirus, spread through sneezing/coughing (SIMILAR TO MEASLES) - Incubation period = 6-21 days - Infective period = 1 week before to 5 days after rash onset - Illness = for 7-10 days

Answer 340

- Prodrome = mild fever / asymptomatic - Pink maculopapular rash (face --> whole body), fades in 3-5 days (20% --> Forchheimer spots red spots on soft palate) - Lymphadenopathy (suboccipital, postauricular) - No Koplik spots or conjunctivitis

Answer 341

- Rubella serology (IgG and IgM) from oral fluid test | - RT-PCR (2nd line)

Answer 342

- Notify HPU, isolate for 4 days after development of rash | - Supportive (virus; fluids, analgesia, rest)

Answer 343

Haemorrhagic complications due to thrombocytopenia

Answer 344

- “Fifth disease / erythema infectiosum / B19 / Slapped Cheek” - Transmission via respiratory secretions, - Infects RBC precursors in BM - Infectious period = 10 days before to 1 day after rash develops

Answer 345

- 1st: Asymptomatic OR coryzal illness for 2-3 days --> latent for 7-10 days - 2nd: Erythema infectiosum (most common): (1) Red ‘slapped cheek’ rash on face (viraemic phase of fever, malaise, headache, myalgia) (2) Progresses (1 week later) to maculopapular (lace) like rash in trunk and limbs - Aplastic crisis – occurs in children with chronic haemolytic anaemia (sickle cell) or immunodeficient - Fetal disease – maternal transmission – leads to fetal hydrops, death due to severe anaemia

Answer 346

- B19 serology (IgG and IgM) --> n.b. similar to rubella | - RT-PCR (2nd line)

Answer 347

- Supportive (virus; fluids, analgesia, rest) --> will clear in ~3 weeks - No need to stay off school or avoid pregnant women (as not really infectious once the rash develops)

Answer 348

Anaemia, lethargy, complications to pregnancy

Answer 349

Varicella zoster virus (HHv-3) – reactivation of dormant virus after chickenpox leads to herpes zoster (shingles) - Incubation period = 10-21 days - Infectious period = 48 hours before rash to last crusted over lesion / 5-7 days after rash appears

Answer 350

- Pyrexia, headache, abdominal pain, malaise - Crops of vesicles appear over 3-5 days: - Head, neck, trunk (less on limbs) – itchy - Papule → vesicle → crust – several stages at once

Answer 351

Clinical diagnosis

Answer 352

- Supportive (virus; fluids, analgesia (no ibuprofen), rest) - Advice – nails short, loose clothing, infectious period = 1-2 days before rash to last crusted over lesion Isolate from: - Immunocompromised - Neonates (<28d old) - Pregnant women - Keep home from school

Answer 353

Admit if serious complications (e.g. pneumonia, encephalitis, dehydration) - Secondary bacterial superinfection --> sudden high fever: toxic shock, necrotising fasciitis - Encephalitis (ataxic with cerebellar signs; better prognosis than HSV-encephalitis) - Purpura fulminans --> large necrotic loss of skin from cross-activation of antiviral ABs --> inhibit the inhibitory coagulation proteins factors C and S --> increased clotting and purpuric skin rash - Dehydration (severe) Immunocompetent adolescents/adults --> oral aciclovir 800 mg 5/day for 7 days (if <24hrs of rash) Immunocompromised children --> IV aciclovir --> oral aciclovir • Prophylactic prevention = human VZV IVIG

Answer 354

* Most commonly due to Coxsackie A16 virus • (SEVERE: Enterovirus 71) * (Atypical: Coxsackie A6) * Common under 10yo; very contagious

Answer 355

• Don’t need to be kept from school but HPA recommend they do until they feel better

Answer 356

o Painful, itchy, vesicular lesions (hands, foot, mouth, tongue, buttocks) o Mild systemic features – fever, sore throat, spots in mouth → develop into ulcers

Answer 357

``` o Supportive (virus; fluids, analgesia, rest) --> will clear in 7-10 days o Safety net: dehydration, if it doesn’t clear up in 2 weeks, pregnancy ```

Answer 358

o HHV6 and HHV7 can present very similarly (HHV6 is more common = Roseola Infantum) o Most children infected by age 2 (6m to 2yo) – highly infectious, infective during whole period of disease o N.B. infected very YOUNG compared to other infections

Answer 359

o High fever and malaise (3-4 days) --> generalised macular (small pink spots) rash (appears as the fever wanes) - Rash starts on neck/body and spread to arms, lasting 1-2 days, non-itchy, blanching - Many have a febrile illness and never develop a rash; commonly misdiagnosed as measles/rubella - Febrile convulsions in 10-15% o Sore throat, lymphadenopathy, coryzal symptoms, D&V o Nagayama spots (spots on the uvula and soft palate) o N.B. lack of Koplik spots (white spots on buccal mucosa)

Answer 360

o HHV6/7 serology (IgG and IgM) | o Measles & rubella serology (similar presentation)

Answer 361

o Supportive (virus; fluids, analgesia, rest) --> will clear in ~1 week o No need to stay off school o Safety net the complications – high fever --> febrile convulsions (10-15%)

Answer 362

No need to stay off school

Answer 363

o Children >18 months --> antibody detection (ELISA) o Children <18 months (still have transplacental anti-HIV IgG from mother) --> PCR of virus - Measured at birth, on discharge, 6 weeks, 12 weeks and finally, at 18 months

Answer 364

o Cord clamped as soon as possible and baby bathed immediately after birth o Zidovudine monotherapy for 2-4w (low/medium risk) OR 4w PEP combination (x2 NRTI + x1 INI; high risk) o Women not to breastfeed o Give all immunisations including BCG (unless a moderate-high risk of transmission) o Infant testing for HIV at 6 and 12 weeks (at least 2 and 8 weeks after stopping prophylaxis)

Answer 365

Eczema, coarse facial features, recurrent RTIs, cold abscesses, candidiasis

Answer 366

o Defective DNA repair o Increased risk of lymphoma o S/S: cerebellar ataxia, developmental delay, telangiectasia in the eyes

Answer 367

X-linked --> impaired Wiskott-Aldrich gene; rare; ~7m old

Answer 368

o S/S: eczema, recurrent infections, thrombocytopenia (petechiae, bloody diarrhoea) - “WATER” = Wiskott-Aldrich Thrombocytopenia Eczema Recurrent infections - May look like ITP (however, Wiskott-Aldrich would present much younger; ITP = ~4yo) - Raised = IgA, IgE --> eczema - Low = IgG, IgM --> recurrent infections

Answer 369

IVIG --> HSCT

Answer 370

o X-linked lymphoproliferative disease o Inability to generate a normal response to EBV o S/S: death to initial EBV, or develop a secondary B-cell lymphoma

Answer 371

- child has failed to develop immune tolerance - Infants → milk (cow’s milk), egg, peanut - Older children → peanut, fish, shellfish

Answer 372

initially tolerate --> become allergic later | - Cross-reactivity between proteins in fruit/nuts and pollen → “oral allergy syndrome”

Answer 373

urticaria, facial swelling (angioedema), rash, erythema, nausea, D&V, colicky abdominal pain, nasal itching, sneezing, rhinorrhoea, congestion, cough, tightness, wheeze --> ANAPHYLAXIS in 10-15 mins

Answer 374

erythema, atopic eczema, GORD, change in frequency of stools, blood/mucus in stools, abdo pain, FTT, infantile colic, constipation, food aversion, pallor

Answer 375

o Allergy-focussed clinical history: - Classify the reaction – speed of onset, age of onset, severity, location, reproducibility, history - Atopic history (personal or FHx) - Food diary - Details of food avoidance and why - Details of any feeding history (age of weaning, breast/formula) - Cultural/religious factors surrounding food - Any previous trial elimination of suspected allergen for 2-6 weeks then reintroduction o Test 1: Skin prick allergy testing (supports an allergy-focussed history and can confirm diagnosis); o Test 2: Measurement of specific IgE antibodies (RAST)

Answer 376

- Faltering growth with ≥1 GI symptoms of allergy - ≥1 acute systemic or severe delayed reactions - Severe atopic eczema - Persisting suspicion - Multiple allergies

Answer 377

o Specialist care (if indicated, as above) o Avoid relevant foods o MDT – advice from paediatric dietician to avoid nutritional deficiencies o Teach family and child how to manage an allergic attack (Allergy Action Plan) - Written information/leaflet + adequate training • Explain what an allergy is • Explain some children grow out of allergies (i.e. cow’s milk protein) - Mild attacks --> antihistamines (i.e. loratadine) - Severe attacks --> EpiPen (IM adrenaline)

Answer 378

o Coryza, conjunctivitis, chronically blocked nose | o Sleep disturbance, impaired daytime behaviour/concentration

Answer 379

To exclude other causes: o Identify any co-existent asthma (or other atopy) o Examine nose for nasal polyps, deviated nasal septum, mucosal swelling or depressed or widened nasal bridge

Answer 380

Occasional symptomatic relief: - 2-5yo → give oral (or liquid if young) antihistamine (cetirizine, loratadine) as required - Any age: intranasal Azelastine

Answer 381

Frequent symptomatic relief: - Advise to avoid causative allergen - Main issue (nasal blockage / polyps) --> intranasal corticosteroid (beclomethasone) - Main issue (sneezing / discharge) --> intranasal corticosteroid or oral antihistamine

Answer 382

(SCIT = Sub-Cutaneous Immunotherapy) Used to treat: • Allergic rhinitis and conjunctivitis • Insect stings • Anaphylaxis • Asthma - Solutions of an allergic allergen are injected SC or sublingually on a regular basis for 3-5 years - It can provide protection for many years but has a risk of inducing anaphylaxis (specialist supervision)

Answer 383

* Common (3-6%) * Can be immediate (IgE mediated) or delayed – usually presents in first 3m of life in formula-fed children * Infants that are breast-fed can still get a reaction from proteins that the mother eats passing to breast milk

Answer 384

3-month-old baby that vomits and has diarrhoea after every feed

Answer 385

Same as food allergy

Answer 386

1st: Trial cows' milk elimination from diet for 2-6 weeks: - Breastfed Babies: mother to exclude cow’s milk protein from her diet - Consider prescribing daily supplement of 1g of calcium and 10 mcg of vitamin D - N.B. it takes 2-3 weeks to fully eliminate cow’s milk from breastmilk - Formula-fed Babies: replacement of cows' milk-based formula with hypoallergenic infant formula (e.g. extensively hydrolysed formula or amino acid formula --> if SEVERE: use amino-acid based formula) - Weaned infants/older children: exclude cows' milk protein from their diet 2nd: Regularly monitor growth, nutritional counselling with a paediatric dietician 3rd: Re-evaluate tolerance to cows' milk protein (every 6-12 months) --> re-introduce cows' milk protein into the diet --> if tolerance is established, greater exposure of less processed milk is advised with 'Milk Ladder'

Answer 387

“Viral laryngotracheobronchitis” | • Affects 6m to 6yo (peak 2yo), autumn

Answer 388

o Main cause = Parainfluenza | o Other causes = RSV, rhinovirus, influenza

Answer 389

- FHx - LBW/prematurity - Autumn/winter - M>F

Answer 390

- laryngomalacia, - acute epiglottitis, - inhaled foreign body

Answer 391

- Coryal symptoms - Barking cough (from vocal cord impairment) - Stridor (from inflamed/oedematous airways)

Answer 392

- Clinical | - DO NOT EXAMINE THROAT

Answer 393

Westley score - helps determine admission, treatment Mild: 0 --> 2: - Oral dexamethasone + discharge (“With oral dexamethasone, the symptoms should resolve within 48 hours”) Moderate: 3 --> 7: - ADMIT + dexamethasone Severe: 8 --> 11: - ADMIT + dexamethasone ± adrenaline Impending respiratory failure (RR >70): 12 --> 17: - ADMIT + dexamethasone ± adrenaline

Answer 394

- RR>60 - Other co-morbid condition - Toxic looking - Age <3m

Answer 395

- 1st line: Oral dexamethasone (fluid suspension) - 2nd line: Nebulised budesonide or IM dexamethasone - Respiratory distress (RR >70) --> Neb adrenaline + O2 Give adrenaline first line if they are SEVERE as they wouldn’t be able to swallow dexamethasone

Answer 396

- secondary bacterial - superinfection, - pulmonary oedema, - pneumothorax

Answer 397

Intense swelling of epiglottis associated with sepsis: | - most common ages 1-6yo (can affect all ages)

Answer 398

Haemophilus influenza type B (HiB) | - uncommon due to vaccination

Answer 399

MEDICAL EMERGENCY: N.B. no cough (like in croup) - High fever (‘toxic-looking’ child) - Drooling (child cannot swallow as too sore) - Stridor (soft inspiratory with high RR) - Immobile, upright and open mouth “Tripod sign”

Answer 400

MEDICAL EMERGENCY - Do not lie the child down (their immobile and upright stance is optimal) - Do not examine the child’s throat (may precipitate total obstruction) (1) Immediate referral to ENT, paediatrics and anaesthetics --> transfer to ITU/anaesthetics --> secure airway (2) Blood cultures and empirical ABx (cefuroxime) ± dexamethasone (reduce inflammation) o Most children recover in 2-3 days o Rifampicin given to close household contacts as prophylaxis

Answer 401

- 2-3% of all infants admitted each year; peak in winter | - <1yo (90% between 1m and 9m; 3-6m peak)

Answer 402

Cause = RSV (80%), parainfluenza, rhinovirus, adenovirus, influenza, human metapneumovirus (rare; but PICU care) Co-infection --> more severe illness - Bronchiolitis (0-1yo) --> VIF (1-5yo) --> Asthma (>5yo) - RSV highly infectious so infection control measures - RFs: pre-term/BPD, passive smoking, LBW, chronic heart disease, hypotonia, (BREASTFEEDING PROTECTIVE) - Rarely, the illness may cause permanent damage to the airways (bronchiolitis obliterans)

Answer 403

- 1st = Coryzal symptoms (which progresses to…) - 2nd = ± dry wheezy cough, SoB, grunting, high RR/HR - Subcostal/intercostal recessions, hyperinflation - Auscultate – how to differentiate from croup/other ‘-itits’ - Fine, bi-basal, end-inspiratory crackles - High-pitch wheeze (exp > insp) - Feeding difficulty (from SoB) --> admission

Answer 404

- clinical diagnosis with SpO2… but can do NPA to confirm | - If there is significant respiratory distress + fever --> carry out a CXR to help rule out pneumonia

Answer 405

Hospital admission if: - <2m old, lower threshold as deteriorate quick: - Apnoea / central cyanosis / grunting - SpO2 <92% on room air - Poor oral fluid intake (≤50% normal in <24hrs) - Severe respiratory distress (i.e. RR>70) Supportive (nasal O2 + NG fluids/feeds ± nebulised 3% saline) --> CPAP (if respiratory failure) - <6m old = no beta receptors in lungs so salbutamol won’t work – would give it if over 1yo If high-risk preterm infant (BPD, congenital HD, immunodeficiency) --> palivizumab (monoclonal AB against RSV)

Answer 406

Viral Induced/Episodic Wheeze (VEW) – from small airways more likely to narrow and obstruct with inflammation and aberrant immune response to viral infection --> episodic nature resolves by 5yo – thought to be on spectrum: Bronchiolitis (<1yo) --> viral-induced wheeze (1-5yo) --> asthma (>5yo) Croup occurs between 6m and 6yo (it does not really lie on the above spectrum though) RFs: maternal smoking (ante-/post-natal), prematurity, FHx of VEW

Answer 407

IgE to inhaled allergens, persistent wheezing past pre-school → atopic asthma, other atopic diseases, FHx

Answer 408

Wheeze (end-expiratory polyphonic), cough, SoB, chest tightness - Symptoms worst at night / early morning - Symptoms with non-viral triggers - Personal or FHx of atopy - Positive response to asthma bronchodilator therapy Examination: - Hyperinflated chest ± accessory muscle use - Harrison’s sulci (depressions at base of thorax where diaphragm has grown in muscular size)

Answer 409

<5yo: clinical diagnosis >5yo: consider… spirometry (FEV1/FVC <70%), bronchodilator (12% pre-/post- difference), PEFR variability - Vital signs: BP, HR, RR, SpO2, temperature - PEFR ± diary - Spirometry + bronchodilator test therapy (improvement of 12%+) ± FeNO testing

Answer 410

- PEFR 50-75% | - Normal speech

Answer 411

- Moderate; no admission needed: - Salbutamol (4-hourly; max 4/day) - Oral prednisolone (for 3d) - Follow-up in 48hrs

Answer 412

- PEFR 33-50% - RR >25 (>12 years) - RR >30 (5-12 years) - RR >40 (2-5 years) - HR >110 (> 12 years) - HR >125 (5-12 years) - HR >140 (2-5 years) - Inability to complete sentences in one breath - Accessory muscle use - Inability to feed - SpO2 >92%

Answer 413

- PEFR < 33% - SpO2 < 92% - Normal/elevated PaCO2 i. e. >4.8 kPa - Altered consciousness - Exhaustion - Cardiac arrhythmia - Hypotension - Cyanosis - Poor respiratory effort - Silent chest

Answer 414

Admit those of SEVERE or LIFE-THREATENING classification 1. Burst step (if wheezy and hx of atopy) – give all the below: (+ O2 therapy - maintain SpO2 >92%) - 3x salbutamol nebs (or up to 10 inhales on a pump) (SE (of too much) = shivering, vomiting) - 2x ipratropium bromide (Atrovent) nebulisers - 1x oral Prednisolone (benefit after 4-6h) – ONLY USED IN ASTHMA (general hypoxia does not use this) - INVOLVE SENIORS IF BUSRT STEP HAS FAILED 2. IV bolus step – give one of the below: - If “2 IV bolus MgSO4 - IV bolus Salbutamol (Monitor ECG) - IV bolus Aminophylline (Monitor ECG, infuse slowly (arrhythmias)) 3. IV infusion step – give one of the below: - IV Salbutamol - IV Aminophylline 4. Panic step - Intubate and ventilate if classified as life threatening - Transfer to ICU

Answer 415

Give salbutamol 1-hourly --> 2-hourly --> 3-hourly --> 4-hourly --> home when… - Stable on 4-hourly treatment (can then wean further when at home) - Peak flow at 75% of best predicted - SpO2 >94% Follow up in 2 days of discharge or leaving A&E

Answer 416

Before discharge, the following should be reviewed with the child and family: - When drugs should be used (regularly or PRN; frequency and dosage) - How to use the drug (inhaler technique) - What each drug does (relief vs prevention) - What to do if asthma worsens (personalised asthma management action plan) Inform the parents and child about features of poorly controlled asthma (e.g. cough, wheeze, breathlessness, difficulty walking/talking/sleeping, decreasing relief from bronchodilators) Measurement of peak flow at home will allow earlier recognition of deteriorating asthma

Answer 417

- Beta blockers - NSAIDs - Adenosine - ACEi

Answer 418

(1) : SABA - Salbutamol PRN (consider stepping up when using inhaler ≥3x a week) - Can use a spacer if young or difficulty using - Acute dose = 1 puff per 30-60s (≤10 puffs) – 5 tidal breaths / puff - Normal dose = do not exceed 4-hourly puffs (i.e. 4 puffs a day) (2) : ICS - Low dose inhaled corticosteroid - E.G. Becotide (BECLOMETASONE DIPROPIONATE) (3) : LTRA - Leukotriene Receptor Antagonist (Oral Montelukast) - 2-16yo, review 4-8w - 5-16yo; if fail on review, switch LTRA to LABA - <5yo; if fail on review, stop LTRA and refer to specialist (4) : ICS increased dose - Larger dose ICS; consider reducing dose once asthma controlled - E.G. Flixotide (FLUTICASONE PROPRIONATE) (5) : Oral steroid - Lowest dose to maintain control (prednisolone) - managed by specialist - Used in any severity exacerbation of asthma for 3-5 days

Answer 419

Common cold, acute and self-limiting inflammation of URT mucosa, involving nose, throat, sinuses or larynx - Most common infection of childhood - Rhinovirus (50%); coronavirus (10%); influenza (5%); parainfluenza (5%); respiratory syncytial virus, RSV (5%)

Answer 420

- clear/mucopurulent discharge and nasal block

Answer 421

Clinical diagnosis

Answer 422

Health education → self-limiting (no ABx; virus) → may reduce anxiety and unnecessary visits to doctor - Cough may last 4 weeks after cold - Generally, recovery after 2 weeks - Pain → paracetamol or ibuprofen - Potentially decongestants or antihistamines

Answer 423

- otitis media | - acute sinusitis

Answer 424

Infection of the maxillary sinuses from viral URTIs --> can get a secondary bacterial infection - Frontal sinuses do not develop until late childhood, so frontal sinusitis uncommon until after 10yo

Answer 425

- Pain, swelling and tenderness on front of face | - Influenza-like illness

Answer 426

Clinical diagnosis

Answer 427

Refer to hospital if there are symptoms and signs of: - Severe systemic infection - Intraorbital or periorbital problems (e.g. periorbital cellulitis, displaced eyeball, double vision) - Intracranial complications (e.g. features of meningitis)

Answer 428

If the symptoms last <10 days: - No antibiotic - Advice – virus, takes 2-3 weeks to resolve, only 2% get bacterial complication, simple analgesia - Some people may find some relief using nasal saline or nasal decongestants - Medical advice if symptoms worsen rapidly, do not improve in 3w, systemically unwell

Answer 429

Symptoms lasting >10 days: - High-dose nasal corticosteroid for 14 days (if >12yo; e.g. mometasone) - May improve symptoms but unlikely to affect duration of illness - Could cause systemic side-effects ABx not indicated (as per guidelines) but can give back up prescription (if given, only use if symptoms don’t get better in 7 days or if symptoms get rapidly worse): - 1st line: phenoxymethylpenicillin (clarithromycin if penicillin-allergic) - 2nd line: co-amoxiclav

Answer 430

Middle ear infection: - Young eustachian tubes are short, horizontal and function poorly - Very common; most 6-12 months (most children have 1 episode)

Answer 431

FHx, male gender, cleft palate, Down’s syndrome, smoking in the house

Answer 432

H. influenza, S. pneumoniae, RSV

Answer 433

Pain in the ear and fever

Answer 434

- Temperature | - Otoscopy --> bright red bulging tympanic membranes, loss of normal light reaction, perforation and pus

Answer 435

- Severe systemic infection - Complications (e.g. meningitis, mastoiditis, facial nerve palsy) - Children <3 months with a temperature >38 degrees

Answer 436

Advice (otitis media without effusion): • Acute otitis media lasts about 3 days (up to 1 week) – most recover without ABx • Use regular ibuprofen/paracetamol • No evidence to support the use of decongestants or antihistamines Medical Management: Antibiotic regimen: • No antibiotic prescription – most cases will resolve spontaneously --> seek help if symptoms haven't improved after 3 days or if the child deteriorates clinically • Delayed antibiotic prescription –antibiotics NOT needed immediately but should be used if symptoms not improved after 3 days or if worsened greatly at any time • Immediate antibiotic prescription – systemically unwell, age <2yo

Answer 437

1st line = amoxicillin, 5 days - penicillin allergy: clarithromycin, erythromycin

Answer 438

- Oral amoxicillin, 5 days | - Review in 6 weeks to ensure healing

Answer 439

"Otitis media with effusion"

Answer 440

Asymptomatic except for possible reduced hearing (conductive hearing loss) • Can interfere with normal speech development --> learning difficulties • Otoscopy = eardrum is dull and retracted, often with a fluid level visible

Answer 441

* Tympanometry | * Audiometry

Answer 442

Co-existent cleft palate or Down’s syndrome or other* --> refer to ENT •* hearing loss, structurally abnormal tympanic membrane, cholesteatoma discharge No co-morbidities --> active observation for 6-12 weeks: 1) Two hearing tests (pure tone audiometry), 3 months apart 2) If persistent past 6-12 weeks, refer to ENT - Non-surgical – hearing aids, active monitor for 3m, auto-inflation - Surgical – myringotomy and grommets - Benefits do NOT last longer than 12 months - Problems after extrusion of grommet --> reinsertion of grommets - SEs: otorrhoea > cholesteatoma, bleeding, tympanosclerosis

Answer 443

- Perforation - Mastoiditis (chronic OM --> honeycomb structure behind ear inflamed --> discharge + swelling behind ear) - Meningitis - Facial nerve palsies - Febrile convulsions

Answer 444

Inflammation of the outer ear – auricle, external auditory canal and outer surface of eardrum

Answer 445

- Moderate temperature and lymphadenopathy, diffuse swelling, variable pain and pruritus, moving ear/jaw is painful, impaired hearing, bacterial infection common - Also called Swimmer’s ear

Answer 446

Fungal and associated with underlying skin conditions, diabetes, immunosuppression - Discharge and itch are common - Less acute

Answer 447

Life-threatening extension into mastoid and temporal bones - Mainly due to P. aeruginosa or S. aureus - Mainly in elderly - Criteria – pain, oedema, exudate, micro abscess, granulation tissue, pseudomonas culture - If suspected requires urgent ENT referral

Answer 448

- Hot and humid climates - Swimming - Older age - Immunocompromised - Diabetes - Wax build-up - Narrow external canal - Obstruction of canal - Insufficient wax (predispose infection)

Answer 449

Swabs and culture

Answer 450

Topical drops of… • Acetic acid but is only effective for 1 week • Antibiotics – neomycin or clioquinol Wicking and removal of debris - If this fails, reconsider diagnosis - If cellulitis or cervical lymphadenopathy --> oral antibiotics

Answer 451

Tonsillitis is a form of pharyngitis with inflammation of the tonsils and purulent exudate (as for Laryngitis)

Answer 452

- Group A β-haemolytic streptococcus (GAS) – N.B. rare under 3yo or ≥45yo, common 3-14yo - EBV (i.e. bacterial or viral) – no amoxicillin treatment (as you can get a generalised maculopapular eruption)

Answer 453

“Centor Score” determines likelihood of bacterial over viral (if ≤3 days of pharyngitis): - +1 = Exudate/swelling on tonsils (1 = 5-10% chance GAS, no ABx) - +1 = Tender/swollen anterior cervical lymph nodes (2 = 11-17% chance GAS, rapid strep test) - +1 = Temperature >38C (3 = 28-35% chance GAS, rapid strep test) - +1 = Cough absent (4 = 51-53% chance GAS, ABx + rapid strep test) - +1 = Age 3-14yo (-1 if age ≥45yo) (5 = 51-53% chance GAS, ABx + rapid strep test)

Answer 454

- Sore throat and fever - Dysphagia/odynophagia - Hoarseness, GORD, rhinitis, lethargy, fatigue, post-nasal drip, laryngitis (dysphonia, aphonia)

Answer 455

- ENT exam + temperature - Rapid strep test (2-5 (modified) Centor score) - Consider swabs

Answer 456

Admission if: - Difficulty breathing - Clinical dehydration - Peri-tonsillar abscess (quinsy) or cellulitis - Marked systemic illness or sepsis - Suspected rare cause (e.g. Kawasaki disease, diphtheria) Specific cases to watch out for (take urgent FBC): - DMARDs – could cause immunodeficiency - Diphtheria = ‘web’/pseudomembrane - Carbimazole – idiosyncratic neutropoenia (at back of throat; tx: penicillin + anti-toxin) Medical Management (if bacterial tonsillitis is confirmed using rapid streptococcal antigen testing) - Phenoxymethylpenicillin, 10 days, QDS --> prevent sequelae like rheumatic fever • N.B avoid amoxicillin as can cause widespread maculopapular rash if due to mono - Clarithromycin if pen-allergic

Answer 457

- Adequate fluid intake - Paracetamol or ibuprofen when necessary - Saltwater gargling - Lozenges or anaesthetic sprays (e.g. Difflam)

Answer 458

GAS (S. pyogenes) infection can progress to Scarlet Fever

Answer 459

After 2-4 day incubation)… - Fever, coryza (fever, headache, vomiting, myalgia) - Rash (12-48 hours later) ± erythroderma: • Neck + chest --> spread to trunk + legs • Characteristic ‘sandpaper’ texture • ‘Pastia’s lines’ (rash in prominent skin creases) - Strawberry tongue (≤2 days = white tongue --> ≥2 days = desquamated strawberry tongue) - May progress to Rheumatic Fever with a week latency period

Answer 460

Clinical (also, FBC (polymorphonuclear lymphocytosis, eosinophilia), ELISA, rapid antigen test, etc.)

Answer 461

Phenoxymethylpenicillin (2nd line: azithromycin), notify PHE

Answer 462

S/S resolve after 1 week, exclude for 24hrs from nursery from starting ABx

Answer 463

``` Defective CFTR (CF transmembrane conductance regulator) – cAMP dependent chloride channel, chromosome 7 o 1 in 2,500 live births [most common life-limiting autosomal recessive condition in Caucasians] o 1 in 25 carrier rates o >900 different gene mutations of CFTR (78% are F508, a class 2 mutation = incorrect folding of CFTR protein) ```

Answer 464

- Meconium ileus (surgery may be needed) - Growth faltering (difficulty putting on weight) - Recurring chest infections, wheezing, coughing, SoB - Damage to the airways (bronchiectasis) - ABPA, nasal polyps, sinusitis - Jaundice (cirrhosis, portal HTN) - Diarrhoea or constipation - Diabetes mellitus - Male sterility (absence of the vas deferens) - CLUBBING FINGERS

Answer 465

Screening at birth = heel prick test for IRP / Immunoreactive Trypsinogen (if +ve, further tests are done): - Sweat test (abnormally high NaCl in sweat) – normal (10-40mmol/L), CF (60-115mmol/L) - Genetic tests CXR (hyperinflation, peri-bronchial shadowing, bronchial wall thickening, ring shadows)

Answer 466

``` MDT-based: Members of the MDT (all should be specialists in CF): - Paediatrician - Nurses - Physiotherapists - Social worker* - Dieticians - Pharmacists - Clinical psychologists ``` Social workers * can provide extra support for people with CF and their families regarding employment, education, help adjusting to the condition, benefits, respite care, and many other problems

Answer 467

At specialist CF centres: - Weekly in 1st month - Every 4w in 1st year - Every 6-8w when 1-5yo - Every 2-3m when 5-12yo - Every 3-6 months…

Answer 468

- Increased monitoring with spirometry and symptoms watches - Physiotherapy twice a day → airway clearance manoeuvres and devices + encourage physical activity - Mucolytic therapy: • 1st line: rhDNase (If too young to tolerate, use mannitol dry powder (INH)) • 2nd line: rhDNase + hypertonic saline • Orkambi: Lumacaftor with Ivacaftor (potentiators and correctors) --> may be effective in treating (prolonging life) CF caused by the F508 mutation (78% of CF sufferers)

Answer 469

``` Common infections: • S. aureus • P. aeruginosa • Burkholderia cepacia complex (can be very severe) • H. influenzae • Non-tuberculosis mycobacterium • Aspergillus fumigatus ``` - Prophylaxis oral antibiotics (flucloxacillin and azithromycin to reduce exacerbation chance) - Rescue packs (for prompt IV ABx with any symptoms or signs of infection) - If end stage CF lung disease – transplant is the only option - Minimise contact with other CF sufferers

Answer 470

- High calorie + high fat diet (150% of normal) + fat-soluble vitamin supplements - Pancreatic enzyme replacement (with every meal) --> CREON

Answer 471

General TEENAGERS and ADULTS Management: - DM therapy (as DM is becoming more common as CF live longer) - Liver problems (i.e. cirrhosis, portal HTN) may ultimately require transplantation • Ursodeoxycholic acid therapy (improve bile flow) - Distal Intestinal Obstruction Syndrome (DIOS) = viscous muco-faeculent material obstructs the bowel • Usually cleared by a combination of oral laxatives - Sterility (only for males, but can father children through intracytoplasmic sperm injection)

Answer 472

- Trikafta – a 3 drug combination medicine; but VERY expensive ($311,000/year) – not around in UK yet… - 2 drugs allow F508del-misfolded CFTRs to get to cell surface, the 3rd allows the protein to fold properly - Dramatically improves lung function (but only for >12yo)

Answer 473

- Congenital abnormality of larynx cartilage predisposing to supraglottic collapse during inspiration - Upper airway obstruction and stridor (most frequent congenital stridor in infants and cause ‘noisy breathing’ in infancy)

Answer 474

- 2-6 weeks old with noisy respiration and inspiratory stridor – worse supine, when feeding or if agitated (I.E. not present at birth) - GORD ± feeding difficulties, slow, ↑ cough/choking, ↑ respiratory noise - Normal cry → no abnormality with vocal cords - Baby otherwise comfortable

Answer 475

- O2 monitor | - Flexible laryngoscopy

Answer 476

- Conservative (close observation and monitoring of growth) --> resolve by 18-24 months (70% by 1-year-old) • May initially worsen with age, max at 6-8 months • Complications: respiratory distress, failure to thrive, cyanosis - Endoscopic supraglottoplasty if airway compromise or feeding disrupted sufficiently to prevent normal growth

Answer 477

* Occurs during vigorous crying triggered by pain, frustration, anger, fear * Child cries vigorously for <15 seconds and then becomes silent * Breath hold on outward breath --> turns blue --> loses consciousness --> child may become floppy or stiff * Will regain consciousness <1 minute later and breathe normally

Answer 478

o Acute attacks resolve spontaneously | o Behaviour modification with distraction

Answer 479

- Neonate = Mother’s genital tract commensals (GBS, gram -ve enterococci) - Infants, young children = RSV, S. pneumoniae, H. influenzae, Bordetella pertussis, C. trachomatis, S. aureus

Answer 480

- >5yo = M. pneumoniae, S. pneumoniae, Chlamydia pneumoniae | - All ages = Mycobacterium tuberculosis should be considered

Answer 481

- Fever, couch, SoB, preceding URTI | - Auscultation: consolidation (stony dull, bronchial breathing, decreased breath sounds), coarse crackles

Answer 482

- Basic obs: temperature, O2 saturations, RR, respiratory exam - FBC, U&Es - Cyanosis and hydration status - VBG (blood gases) - CXR Bronchiolitis = fine crackles, pneumonia = coarse crackles

Answer 483

Determine severity: - Measure temperature - Examine chest - Record BP, HR and RR - Note degree of agitation and consciousness - Note signs of exhaustion - Note cyanosis and accessory muscle use - Assess hydration status (cap refill, skin turgor, dry mucous membranes and urine output) Antibiotics (cannot distinguish viral from bacterial, so give anyway): - Child <2yo with mild LRTI --> do not have pneumonia usually (so, no ABx) - 1st line / mild CAP = amoxicillin, 7-14 days - 2nd line / severe CAP = Co-amoxiclav + macrolides (clarithromycin) • Alternative = cefaclor • Macrolides for pen-allergic patients (i.e. clarithromycin) • In pneumonia associated with influenzae, co-amoxiclav is recommended

Answer 484

Hospital admission if… (this is the same for any respiratory condition) - SpO2 <92% on air - Grunting - Marked chest recession - RR >60/min (severe tachypnoea) - Cyanosis - T >38C - Child <3months - Low feeding - Low consciousness

Answer 485

Consider admission if: dehydration, decreased activity, nasal flaring, predisposing diseases (e.g. CLD) - Whilst awaiting hospital admission --> supplemental oxygen if SpO2 <92%

Answer 486

Manteaux test (if -ve, excludes) --> IGRA test (if -ve, prophylaxis; if +ve, treat) • Manteaux >5mm = +ve in immunodeficiency • Manteaux >10mm = +ve in at-risk groups (child <4yo, healthcare workers, IVDU) • Manteaux >15mm = +ve in normal population

Answer 487

RIPE, RiCES or prophylaxis: • (MTB) RIPE = 6m Rifampicin, 6m Isoniazid, 2m Pyrazinamide, 2m Ethambutol • (NTM) RiCES = Rifampicin, Clarithromycin, Ethambutol ± Streptomycin/amikacin • Prophylaxis = isoniazid

Answer 488

Gram negative bacterial, Bordetella pertussis

Answer 489

Gradually decrease/convalesce but can persist for months): - 1-week coryzal symptoms (catarrhal phase) followed by… - Continuous coughing followed by inspiratory whoop ± vomiting ± epistaxis ± conjunctival haemorrhages o Child = worst at night, may go red/blue o Infants = apnoea rather than a whoop

Answer 490

Investigations (NOTIFY HPU): o Culture ± PCR NPA (Naso-Pharyngeal Aspirate – i.e. nasal swab) for Bordetella pertussis o Notify HPU

Answer 491

Admit (and isolate on ward) if <6mo or acutely unwell (see below): - Significant breathing difficulty (severe paroxysms, apnoea episodes, cyanosis) - Significant complications (e.g. seizures, pneumonia) Treatment (if admission is not needed, prescribe an antibiotic if the onset of the cough is within 21 days): - <1 month = oral clarithromycin - 1+ months = oral azithromycin - 2nd line = co-amoxiclav (if macrolides are contra-indicated; not in pregnant adults or babies <6w)

Answer 492

- Rest, fluids, paracetamol or ibuprofen - Educate parents – disease is likely to cause a protracted non-infectious cough (may take weeks to resolve fully); complete any outstanding immunisations; close contacts prophylaxis macrolides - Avoid nursery until 48 hours of antibiotics or until 21 days after the onset of the cough if not treated

Answer 493

Chronic lung disease / AKA: Bronchopulmonary dysplasia • Lung damage in the newborn / child due to: - Delay in lung maturation (i.e. premature) - Pressure and volume trauma from artificial ventilation - Oxygen toxicity - Infection

Answer 494

widespread opacification

Answer 495

o Artificial ventilation [bad CLD] o CPAP or high-flow nasal cannula [normal CLD] o Corticosteroids (low-dose, short course; fear of abnormal development) --> induce earlier weaning

Answer 496

o CXR, ECG, echocardiography o Right-sided lesions --> cyanotic (if duct dependent), shunting o Left-sided lesions --> pump issue, shock

Answer 497

- Right Atrium --> tricuspid atresia (needs ASD/PFO and VSD to continue to allow blood to shunt) • Ebstein’s anomaly --> less severe, not as reliant on shunt - Right Ventricle --> pulmonary stenosis (if critical, VSD allows shunting), pulmonary atresia, ToF (VSD, overarching aorta, right outflow tract obstruction, RV hypertrophy) • VSD and Eisenmenger’s syndrome → reversed shunt → late presentation - Left Atrium --> mitral stenosis/atresia - Left Ventricle --> hypoplastic L heart, coarctation of aorta, interrupted arch, aortic stenosis (AS)

Answer 498

TGA --> aorta and VC switched, must need re-adjustment for it to be survivable (SURGERY when ready), cyanotic once ductus arteriosus closes - Ductus arteriosus closes at 2-4 days (when duct dependent lesions* manifest --> acidosis, death) - *Coarctation of aorta (before PDA), TGA, hypoplastic left heart, critical AS, pulmonary atresia - Give prostaglandin infusion to keep ductus arteriosus open (5ng/kg per minute)

Answer 499

- First few hours --> AVSD, Tricuspid Atresia, hypoplastic left heart syndrome o Peripheral transient cyanosis is very common in the first 24 hours of life – reassess them regularly - First few days --> ToGA (day 2), ToF, large PDA in premature contraction - First few weeks --> aortic stenosis, coarctation of the aorta - First few months --> any L to R shunt as pulmonary resistance falls Innocent murmurs: Still’s murmur Venous hum (blowing noise)

Answer 500

Innocent murmurs: - Still’s murmur - Venous hum (blowing noise) Majority of murmurs in paediatrics are innocent - Characteristics --> Soft, Systolic, Asymptomatic, left Sternal edge, Sitting/Standing variation, Short - Can be due to ↑CO in illness or anaemia

Answer 501

Hyperoxia (nitrogen washout test): - To determine the presence of HD in a cyanosed neonate (1) 100% O2 for 10mins (2) If right radial artery PaO2 from blood gas stays low (<15kPa, 113mmHg) --> diagnose of cyanotic CHD o Only if lung disease and persistent pulmonary HTN of the newborn have been excluded o If PaO2 >20kPa then it is not cyanotic HD

Answer 502

Blue Baby = Cyanotic = R-L shunt Age: TA --> TGA --> ToF; or complete AVSD if breathless + blue --> EM

Answer 503

Breathless Baby = L-R shunt VSD [30%], ASD [7%], PDA [12%]

Answer 504

P or A stenosis

Answer 505

coarctation of the aorta

Answer 506

Maternal = Rubella; DM; SLE; warfarin; FAS Chromosomal = Down’s; DiGeorge; Edwards; Patau’s; Turner’s; William’s; Noonan’s

Answer 507

Left to right shunts = ASD, VSD, PDA, CoA, aortic valve stenosis Cyanotic heart disease (right to left shunts) = ToF (1-2m), ToGA, Tricuspid Atresia (at birth)

Answer 508

o Secundum ASD (80% of ASDs) – defect in atrial septum (foramen ovale does not close) o Partial AVSD (or ‘primum ASD’) – defect of AV septum

Answer 509

``` o Asymptomatic o Recurrent chest infections / wheeze o Arrhythmias (from 40yo+) o Murmur: - Ejection-Systolic Murmur at ULSE - Fixed wide splitting of S2 ```

Answer 510

``` o CXR o ECG (secundum --> RBBB and RAD; partial AVSD --> ‘superior’ QRS axis) o Echocardiography (diagnostic) ```

Answer 511

Usually at 3yo: o Secundum ASD --> cardiac catheterisation + insertion of occlusive device (percutaneous/endovascular closure) o Partial AVSD --> surgical correction

Answer 512

Classified based on size (<3mm [smaller than AV] or >3mm [bigger than AV])

Answer 513

- Asymptomatic - Murmur = loud Pan-Systolic Murmur at lower-left sternal edge (LLSE) - (louder = smaller defect) - Soft pulmonary 2nd sound - “Breathless 3m-old baby, normal saturations, poor feeding with tiredness, LOUD murmur”

Answer 514

Echocardiography diagnostic (all else is normal)

Answer 515

- Self-limiting (these close by themselves) | - After these close, they are no longer at a high risk of IE

Answer 516

prevent Eisenmenger syndrome

Answer 517

- Heart failure, SOB, recurrent chest infections, hepatomegaly - Murmur = soft Pan-Systolic Murmur (i.e. large defect), mid-diastolic murmur (apical) - Loud pulmonary 2nd sound

Answer 518

- CXR (heart failure ‘ABCDE’) - ECG (heart hypertrophy R wave height >8mm) - Echocardiography (diagnostic)

Answer 519

“CDC” – Calories, Diuretics, Captopril - Diuretics + captopril - Additional calorie input - Surgery is usually performed at 3-6 months to prevent permanent lung damage from pulmonary hypertension and high blood flow (i.e. to prevent Eisenmenger syndrome)

Answer 520

Connects pulmonary artery to descending aorta (should close by 1 month postpartum) High --> low pressure flow (not a cyanotic condition, as flow from left to right does not reduce O2 to body) Continuous high blood flow into pulmonary system --> pul. HTN (pressure above left side) and eventual heart failure through a right --> left shunt forming and Eisenmenger syndrome

Answer 521

Can be asymptomatic: - Murmur = continuous ‘machine-like’ / Gibson’s murmur at ULSE - Left sub-clavicular thrill - Heaving apex beat - Wide pulse pressure - Large volume, bounding, collapsing pulses - Respiratory symptoms (increased work) --> apnoea, bradycardia, high O2 need - May be difficult to wean off a ventilator

Answer 522

- Medical: indomethacin (NSAID) --> will promote duct closure - Surgical: coil/device closure at cardiac catheter at 1yo, or Ligation

Answer 523

- Malformation of TV leading to severe Tricuspid Regurgitation --> cardiomyopathy - TV leaflets are attached to walls and septum of the right ventricle Associated with lithium use in pregnancy

Answer 524

- split 1st & 2nd heart sounds, cardiomegaly

Answer 525

- prostaglandin --> cone repair of TV

Answer 526

• The most common form of complex cyanotic heart disease (there are many others) • Only left ventricle effective (right too small)

Answer 527

``` o Cyanosis and SoB - Presents very early (10mins) - Similar to ToF presentation but TetoFallot presents at 1-6m of age o ESM at left sternal edge o Hypoplastic left heart ```

Answer 528

o 1st: maintain a secure supply of blood to the lungs (i.e. acts like an artificial ductus arteriosus): - Option 1: Blalock-Taussig (BT) shunt insertion (between subclavian and pulmonary arteries) - Option 2: Pulmonary artery banding operation to reduce pulmonary blood flow if breathless IMPORTANT: complete corrective surgery NOT possible in most cases because only one functioning ventricle o 2nd: Glenn operation --> connect SVC to pulmonary artery o 3rd: Fontan operation --> connect IVC to pulmonary artery

Answer 529

TGA = two main vessels OUT of the heart are switched (Pulmonary Artery and Aorta) o Aorta is connected to the RIGHT atrium and the pulmonary artery is connected to the LEFT atrium o Oxygenated blood goes TO the lungs and deoxygenated blood is sent to the body – usually fatal immediately but often, the condition is found alongside VSDs, ASDs, PDAs, etc. which aid mixing in the short-term

Answer 530

o Cyanosis within a few hours | o Loud S2 (but, no murmur)

Answer 531

o CXR: - Narrow upper mediastinum (‘egg on side’) - Increased pulmonary markings o Echocardiography

Answer 532

o Immediate prostaglandin infusion (PDA patency) o Balloon atrial septoplasty (tears atrial septum down to allow mixing) o Arterial switch surgery to switch the vessels

Answer 533

Commonly found in Down’s syndrome --> single large defect connecting all atria and ventricles

Answer 534

o Cyanosis at weeks 2-3 of life (no murmur) --> found on routine echocardiography of Down’s

Answer 535

o Treat Heart Failure medically + surgery at 3 months

Answer 536

Most common cause of cyanotic heart disease ``` Features (4 characteristics): o VSD o Overriding aorta (compresses pulmonary outflow --> pulmonary stenosis --> RVH) o Right ventricle hyperthrophy o Pulmonary stenosis ```

Answer 537

o Clubbing o Murmur = loud ESM at left lower sternal border (pulmonary stenosis) o Tet spells = crying --> inc. pul. resistance --> R-L shunt --> cyanosis

Answer 538

``` o CXR (small heart, boot-shaped due to RVH) o Echocardiography ```

Answer 539

Medical first, followed by surgical when 6 months old: o 1st = prostaglandin or alprostadil (maintain PDA), reverse severe cyanosis: - Severe/prolonged = BT shunt from subclavian-pulmonary artery OR balloon dilation of RV outflow • Morphine (sedation and pain relief) • IV propranolol (peripheral vasoconstriction and relieve sub-pulmonary muscle contraction) • IV fluids + bicarbonate (correct acidosis) • Muscle paralysis and artificial ventilation to reduce metabolic O2 demand - Mild cyanosis = self-limiting (<15 minutes cyanosis) o 2nd = surgery (6 months later)

Answer 540

Eisenmenger syndrome = irreversibly raised pulmonary vascular resistance from chronically raised pulmonary arterial pressure and flow (i.e. from a large VSD or chronic PDA) --> a right to left shunt forming o A cyanotic heart disease

Answer 541

o High pulmonary flow from large L-to-R shunt untreated --> arteries thick walled --> resistance increases o Eventually, shunt decreases, and child becomes less symptomatic o At 10-15y, shunt reverses and teenager become blue + cyanotic with Eisenmenger syndrome --> death by right-sided heart failure (40-50yo) - Cyanosis typically affects lower extremities in PDA-Eisenmenger

Answer 542

o Early intervention for pulmonary blood flow | o Heart transplantation not easy but can be done

Answer 543

Aortic/pulmonary valve leaflets partially fused together | - AS often co-existent coarctation of aorta ± mitral valve stenosis

Answer 544

NO CYANOSIS - ESM - Aortic Stenosis = carotid thrill - Pulmonary Stenosis = no carotid thrill, harsh heart murmur at left sternal edge, no other symptoms

Answer 545

transcatheter balloon dilatation

Answer 546

NO CYANOSIS - Asymptomatic or - ESM - High BP in arms, low BP in legs - 3rd day of life --> a few weeks of life - ‘Rib notching’ occurs due to large collateral intercostal arteries forming

Answer 547

- Echocardiography | - MRA (Magnetic Resonance Angiography)

Answer 548

N.B. re-coarctation can occur later: - Sick infant --> follow ABC and prostaglandin infusion guidelines - Well child --> surgical repair OR balloon angioplasty ± stenting

Answer 549

THIS IS CYANOTIC • Often will be the sickest of all the left outflow presentations in a neonate

Answer 550

1st --> ABCs and prostaglandin: - 2nd --> Blalock-Taussig (BK) shunt (artificial ductus arteriosus) OR Norwood stage 1 - 3rd --> BK shunt removed --> Glenn or hemi-Fontan --> Fontan or TCPC (Total Cavo-pulmonary Connection)

Answer 551

• Sinus arrhythmia is normal in children and detectable as cyclical change (up to 30bpm) in HR with respiration - Acceleration on inspiration and slowing on expiration • SVT = most common childhood arrhythmia

Answer 552

o HR 250-300bpm --> poor CO, pulmonary oedema o Neonatal = HF, hydrops fetalis o Foetus = IUD

Answer 553

o ECG – narrow complex tachycardia (delta wave in WPW), T wave inversion due to ischemia o Echocardiography

Answer 554

(SVT) – prompt restoration of sinus rhythm is key to improvement: (1) Circulatory and respiratory support: - Tissue acidosis corrected - Positive pressure ventilation if needed (2) Vagal stimulating manoeuvres (e.g. carotid sinus massage, cold ice pack to face) --> 80% success (3) IV adenosine = treatment of choice --> induces AV lock after rapid bolus infusion --> terminates tachycardia (4) Electrical cardioversion with synchronised DC shock if adenosine fails - Once sinus rhythm is restored, maintenance therapy will be required (e.g. flecainide or sotalol) - 90% of children will have no further attacks after infancy - Children who relapse or at risk treated with percutaneous RFA or cryoablation of accessory pathway

Answer 555

* Group A β-haemolytic streptococcus (GAS) / Scarlet Fever * Children age 5-15y * Long term damage (chronic progression in up to 80%) leads to mitral stenosis

Answer 556

o Latent interval of 2-6 weeks after pharyngeal infection → PPE - Polyarthritis (tender joints, swelling) - Pericarditis (endocarditis, myocarditis, pericarditis) - Erythema marginatum (map-like outlines) o Sydenham’s chorea 2-6 months later – involuntary movements

Answer 557

``` Diagnosis (JONE’S CRITERIA) – evidence of recent strep throat and… - 2 majors; OR MAJOR: CASES - 1 major + 2 minors MINOR: FRAPP - Evidence of recent strep throat: • ↑ ISO titre • Other streptococcal Abs • Group A strep on throat culture ```

Answer 558

- Bed rest and anti-inflammatory agents - High-dose Aspirin (suppresses the inflammatory response of the joints and heart) - Antibiotics (if evidence of persistent infection) – amoxicillin - Corticosteroids (if the fever and inflammation does NOT resolve rapidly)

Answer 559

Monthly injections of benzathine penicillin - Until 10 years after the last episode OR until the age of 21 years (OR lifelong if severe valve disease) - Surgical treatment with valve repair or replacement may be required

Answer 560

• Risk factors = any congenital heart defect or abnormality which gives rise to a turbulent blood flow (i.e. VSD)

Answer 561

- Fever, anaemia, pallor - Clubbing, splinter haemorrhages - Necrotic skin lesions (infected emboli) - Changing cardiac signs - Splenomegaly - Neuro signs from cerebral infarct - Retinal infarcts - Arthritis or arthralgia - Microscopic haematuria

Answer 562

with multiple blood cultures (before ABX) and echocardiography to identify vegetations

Answer 563

o Most commonly caused by streptococcus viridians o High dose penicillin in combination with aminoglycoside (gentamicin or streptomycin) for 6w IV - Beta-lactam (i.e. amoxicillin) plus aminoglycoside (i.e. gentamycin) - Antibiotic prophylaxis is not used in the UK regularly o Surgical removal of infected prosthetic material

Answer 564

Signs of heart failure: - SOB, poor feeding, recurrent chest infections, fatigue Symptoms of heart failure: - poor weight gain, ↑ RR, ↑ HR, murmur, gallop rhythm, signs of venous congestion, enlarged heart, hepatomegaly, cool peripheries, insufficient CO, respiratory distress, pallor, FTT

Answer 565

Neonate (duct dependent, obstructed systemic circulation) --> hypoplastic L-heart, aortic stenosis, severe

Answer 566

Infants (defect --> high pulmonary blood flow --> L-to-R shunt) --> persistent VSA, ASD, PDA

Answer 567

Older children (R- or L-HF) --> Eisenmenger (RHF), Rheumatic HD, cardiomyopathy Also: volume overload (anaemia or sepsis); pressure overload (HTN)

Answer 568

o Basic – O2 sats, BP, FBC, U&Es, Ca2+, BNP/ANP o CXR o ECG o Echocardiography

Answer 569

``` o Multiple faceted approach with specific aims: - Reduce preload: • Diuretics (e.g. furosemide) or GTN - Enhance cardiac contractility: • Dopamine; or • Digoxin, dobutamine, adrenaline, milrinone - Reduce afterload: • Oral ACE inhibitors • Hydralazine, nitroprusside, alprostadil - Improving oxygen delivery • Beta-blockers (e.g. carvedilol) - Enhance nutrition ``` o If cyanotic --> prostaglandin infusion (alprostadil / prostaglandin E2)

Answer 570

o Dysuria o Frequency o Flank pain Infants: - Fever - Vomiting - Lethargy or irritability - Poor feeding / faltering growth - Jaundice - Septicaemia - Offensive urine - Febrile seizure (>6m) Children: - Dysuria, frequency & urgency - Abdominal pain / lion tenderness - Fever ± rigors - Lethargy and anorexia - D&V - Haematuria - Enuresis - Offensive urine - Febrile seizure (>6m)

Answer 571

``` o Urine dip: - Nitrite stick test – very specific - Leucocyte esterase test • +ve in children with febrile illness without UTI • +ve in balanitis and vulvovaginitis ``` o Urine MC&S - Diagnose UTI o Imaging not recommended (unless atypical or recurrent UTIs --> USS --> DMSA ± MCUG): - Atypical UTI --> USS ± DMSA (<3yo only) - Recurrent UTI --> USS + DMSA

Answer 572

* Common (3-7% girls; 1-2% boys ≥1 UTI by 6yo --> 12-30% recurrence in <1y) * Aetiology – up to 50% have a structural abnormality of the urinary tract

Answer 573

o Upper / pyelonephritis: - Bacteriuria + fever >38 degrees - Bacteriuria + loin pain/tenderness o Lower / cystitis --> anything else (i.e. dysuria but NO systemic symptoms)

Answer 574

o <3m --> admit to hospital, IV ABx, 5-7 days, then switched to oral prophylaxis - refer to paediatrician - EMERGENCY - Urgent USS should be booked (4-6w)

Answer 575

o >3m, upper UTI --> consider hospital admission and IV ABx; OR oral ABx, 7-10 days - If <6m old when they have their first UTI, an urgent USS should be booked (4-6w)

Answer 576

o >3m, lower UTI --> oral ABx (local guidelines; i.e. trimethoprim, nitrofurantoin), 3 days - SAFETY NET: parents should bring the child back if they remain unwell after 48 hours (may be atypical) - If <6m old when they have their first UTI, an urgent USS should be booked (4-6w)

Answer 577

Recurrent UTI --> antibiotic prophylaxis, USS (during admission if <6m; urgent if >6m) and DMSA scan (routine)

Answer 578

IV ABx --> Co-amoxiclav, cephalexin Oral ABx --> nitrofurantoin, trimethoprim, amoxicillin, cephalexin

Answer 579

- High fluid intake to produce high urine output - Regular voiding - Ensure complete bladder emptying - Treatment and/or prevention of constipation - Good perineal hygiene - Lactobacillus acidophilus probiotic

Answer 580

Potty training started around 2.5y, but every child is different… o Dry by day = by 4yo o Dry by day and night = by 5yo (most by 3-4 years old)

Answer 581

- Reassure parents – often resolves by 5yo | - Educate – easy access to toilet at night, bladder emptying before bed, positive reward system

Answer 582

- Infrequent (<2/week) --> offer watch-and-see approach - Frequent: • 1st line: enuresis alarm, positive reward system (i.e. encourage child to help change sheets) • 2nd line: desmopressin • 1st line if >7yo • 1st line for short-term control (i.e. sleepovers, school trips, etc.) • 3rd line: combination

Answer 583

- Bedwetting not the child/parent’s fault / take a neutral attitude to bedwetting so not to embarrass - Reason is excess volume that does not wake the child to go to the toilet • Reassure that pretty much all children become dry with time as their bladder capacity increases and they learn to wake at the sensation of a full bladder - Child should go to the toilet regularly and particularly before bed - Avoid caffeine before bed, healthy diet encouraged - Easy access to toilet - Waterproof mattress or bed pads can be used - Lifting or waking during the night does not promote long-term dryness - Positive reward systems can be used (e.g. rewards for going to the toilet before bed, drinking the recommended amount of fluid during the day) - SUPPORT: ERIC (Education and Resources for Improving Childhood Continence)

Answer 584

Referral to enuresis clinic, community paediatrician

Answer 585

- Renal USS - Urine diary - Dipsticks - MCUG - Urine MC&S

Answer 586

enuresis that occurs after the child has previously been dry at night for 6 months

Answer 587

- UTI | - Constipation

Answer 588

- Diabetes - Recurrent UTI - Psychological problems - Family problems - Developmental, attention or learning difficulties - Known or suspected physical or neurological problems

Answer 589

inability to retract foreskin, “tight” foreskin o Physiological at birth - By 1yo --> 50% have a non-retractable foreskin - By 4yo --> 10%; and by 17yo --> 1% o If persistent to puberty, can increase risk of infection and cause problems with urination and intercourse

Answer 590

reassure and review in 6 months (personal hygiene promotion)

Answer 591

circumcision or topical steroid creams (depends on severity)

Answer 592

o Balanitis Xerotica Obliterans (BXO) = pathological phimosis = scarring of foreskin; rare before 5y

Answer 593

- S/S: haematuria, painful erections, recurrent UTI, weak stream, swelling, redness, tenderness

Answer 594

EMERGENCY = foreskin becomes trapped in the retracted position proximal to swollen glans o Restricting blood flow to head of penis --> penis turns dark purple --> urological emergency

Answer 595

- 1st line = adequate analgesia, attempt to reduce foreskin (gentle compression with saline soaked swab) - 2nd line = emergency referral to urologist

Answer 596

Wrongly positioned meatus (ventral in hypospadias; dorsal in epispadias) o 1 in 200 (epispadias is 1 in 100,000) o Ventral aspect foramen (through corpus spongiosum)

Answer 597

o Features: - Ventral foramen - Foreskin not fused - End-membrane o Extra features ± hooded foreskin ventrally ± chordee (ventral curvature)

Answer 598

- Do nothing / surgery is not mandatory | - Hypospadias repair surgery (after 3 months) – no circumcision should be done prior as skin required

Answer 599

- inflamed/purulent discharge from foreskin | - Single attacks common

Answer 600

- Warm baths - Broad spectrum ABX - Recurrent (rare) --> circumcision

Answer 601

Post-pubertal age (mean: 16yo; 11-30yo) most commonly - Twisting of processes vaginalis - Must be excluded in any-aged boy with an acute abdomen - RFs: undescended testes, ‘clapper bell’ testis (testes free hanging on spermatic cord) - Torsion of appendix testes (Hydatid or Morgagni – a Mullerian remnant) is more common, however, pain evolves over multiple days. Surgery often needed as cannot be distinguished from true torsion however, if a ‘blue dot’ is seen over the superior pole of the testes, no surgery may be needed, only simple analgesia

Answer 602

o Redness, oedema, N&V | o Sudden onset pain – localised in testis or in the abdomen

Answer 603

o Doppler USS (but this cannot delay surgery) | o Lifting testes increases pain (in epididymitis, it relieves / Prehn’s sign)

Answer 604

Acute emergency: o Urgent urological referral o Exploratory surgery ± bilateral orchiopexy ± orchidectomy ± fixation of contralateral testes - Raphe incision --> untort testes --> watch reperfusion in warm saline --> decide if orchidectomy needed o Supportive care – analgesia, sedation, antiemetics

Answer 605

Orthostatic proteinuria = common transient cause of proteinuria --> measure urine protein: creatinine ratio (PCR) in a series of early morning urine specimens

Answer 606

o AKI Stage 1: - Increase ≥26 µmol/L; or by 1.5-1.9x the reference sCr - <0.5mL/kg/hr, 6-12hr o AKI Stage 2: - Increase 2.0-2.9x the reference sCr - <0.5mL/kg/hr, ≥12hr o AKI Stage 3: - Increase ≥354 µmol/L; or by ≥3x the reference sCr - <0.3mL/kg/hr, ≥24hr - Anuric for ≥12hr

Answer 607

o Urine dip --> blood, protein, leucocytes, nitrates, glucose o Renal USS (only if pyelonephritis or if no identifiable cause)

Answer 608

- haematuria (+/- red cell casts) - HTN - proteinuria

Answer 609

- low albumin - peripheral oedema - proteinuria Most commonly caused by Minimal Change Disease

Answer 610

1st = peri-orbital oedema (often misdiagnosed as allergy) 2nd = other delayed features of oedema (i.e. peripheral leg swelling), features of underlying diagnosis o Steroid-sensitive nephrotic syndrome (80-95% nephrotic syndrome) --> responds to ≤6 weeks of steroids o Steroid-resistant nephrotic syndrome --> does not respond --> further analysis and specialist care

Answer 611

o Urine dipstick testing, urea, U&Es, urine MC&S, urinary sodium o FBC, ESR, creatinine, albumin o Complement levels (C3, C4) o Anti-streptolysin O or anti-DNase B titres (recent streptococcal throat infection) o HBV, HCV, malaria screen

Answer 612

1st --> oral prednisolone for 4-6 weeks (reduced dose from 4+ weeks) - Renal histology of steroid-sensitive nephrotic syndrome = normal on light microscopy - However, on electron microscopy, fusion of podocytes is seen (minimal change disease) 2nd (unresponsive or atypical) --> specialised renal biopsy

Answer 613

Most common causes of ARF in children in the UK: o Haemolytic Uraemic Syndrome / HUS – low RBC, low platelets and AKI; admit these patients - Shistocytes on blood film (distorted erythrocytes --> MAHA --> shistocytes) - Haemorrhagic E. coli O157 (produces shiga toxin) --> infectious diarrhoea o Acute Tubular Necrosis / ATN – usually in context of organ failure in ITU or after cardiac surgery

Answer 614

- Oliguria or anuria - Discoloured urine – brown - Oedema – feet, legs, abdo, weight gain - Fatigue, lethargy, N&V

Answer 615

o Fluid replacement /circulatory support is key (n.b. little sodium is excreted as the body is trying to maintain it)

Answer 616

o Monitoring water and electrolyte balance | o A high-calorie, normal protein feed will decrease catabolism, uraemia and hyperkalaemia

Answer 617

o Refer immediately to urology if any of the following are present: - Pyonephrosis - Obstructed solitary kidney - Bilateral upper urinary tract obstruction - Complications of AKI caused by urological obstruction o Requires assessment of the site of obstruction (i.e. PUV, VUJ obstruction, etc.) o Relief can be achieved by nephrostomy or bladder catheterisation

Answer 618

``` Renal USS (identify obstruction): o CKD = small kidneys o AKI = large, bright kidneys with loss of cortical medullary differentiation ```

Answer 619

o Diuretics PRN (i.e. to treat fluid overload or oedema whilst the patient is awaiting dialysis) o Fluid restriction o Dialysis – indicated if failure of conservative management, multisystem failure or one of the following: - Refractory hyperkalaemia - Refractory fluid overload - Metabolic acidosis - Uraemic symptoms (encephalopathy, nausea, pruritis, malaise, pericarditis) - CKD stage 5 (GFR <15mL/min) o Good prognosis (in childhood) unless masking a more serious condition (e.g. infection following cardiac surgery)

Answer 620

- minimal change disease, focal-segmental glomerulosclerosis, membranous; causes: o Post-infectious (streptococcus in children) o Vasculitis (SLE, ANCA +ve) o IgA nephropathy (adults, but includes HSP in children) o Mesangiocapillary glomerulonephritis o Goodpasture’s ``` Range of immune mediated disorders --> inflammation in the glomerulus and other kidney compartments, 1st or 2nd: o Minimal change o Diffuse (all glomeruli) o Focal (some glomeruli) o Segmental (only parts of affected glomerulus) ```

Answer 621

o Children 2-4yo, 90% nephrotic syndrome o Normal renal function / complement / BP o Usually responds to high dose prednisolone (steroid-sensitive nephrotic syndrome)

Answer 622

o Segmental scarring and foot process fusion, common in older children o HTN, impaired renal function o 50% respond to steroids and 50% ESR

Answer 623

o Widespread thickening, granular deposits of Ig and complement, more common in adults

Answer 624

o Nephrotic syndrome – low albumin, oedema, proteinuria o Nephritic syndrome – haematuria, HTN, proteinuria o Decreased urine output and volume overload / oedema o Hypertension and seizures

Answer 625

o Urine dipstick testing, urea, U&Es, urine MC&S, urinary sodium o FBC, ESR, creatinine, albumin o Complement levels (C3, C4) o Anti-streptolysin O or anti-DNase B titres (recent streptococcal throat infection) o HBV, HCV, malaria screen

Answer 626

Depends on type, severity and complications - Minimal change --> see “Nephrotic Syndrome” / corticosteroids - Focal-segmental --> depends on cause… • Corticosteroids • Immunosuppressive drugs • Plasmapheresis • ACE inhibitors and ARBs • Diuretics • Diet change - Membranous --> supportive, ACEi and ARBs o Correct water and electrolyte balances o Treat oedema with diuretics and potassium supplement o BP management, dietary advice, lipid lowering therapy

Answer 627

o Most common vasculitis of childhood – affects the small vessels o Boys 3-10y, peaks in winter, often preceded by URTI (2-3 days; otherwise if 1-12 weeks, think post-infectious) o IgA and IgG complex and deposit in organs activating complement

Answer 628

o Purpuric Rash (100%) - Extensor surface of legs, arms, buttocks, ankles - Urticarial --> maculopapular; spares trunk o Arthralgia and periarticular oedema (60-80%): - Large Joints - Joint pain and swelling of knees and ankles o Abdominal pain (60%) - Colicky abdominal pain - Haematemesis, melena, intussusception o Glomerulonephritis (20-60% --> 97% within 3m of onset): - Microscopic or macroscopic haematuria - Nephrotic syndrome (rare)

Answer 629

o 1st --> FBC, clotting screen, urine dipstick, U&Es o Urinalysis: RBCs, proteinuria, casts, urea, creatinine, 24hr protein  to rule out meningococcal sepsis o Increased IgA, normal coagulation o Follow-up (weekly for 1 month, 2-weekly for 2 months, 3 months, 6 months, 12 months): - BP measurements - Urine dipstick (haematuria)

Answer 630

o Most cases will resolve spontaneously within 4 weeks o Symptomatic management: - Joint pain --> NSAIDs - Scrotal involvement or severe oedema or severe abdominal pain --> oral prednisolone o Renal involvement: - IV corticosteroids (nephrotic-range proteinuria and those with declining renal function - Renal transplant may be considered in end-stage renal disease

Answer 631

- Testicular pain (rare) - Arthritis of knees - Intussusception - Acute renal failure / CRF (as an adult) - Pancreatitis

Answer 632

Wilm's tumour - Most common intra-abdominal tumour of childhood (2nd most common cancer of childhood after ALL) o <5yo (80%) – often 3yo o 95% unilateral o 1-2% familial /FHx - Undifferentiated mesodermal tumour of intermediate cell mass – primitive renal tubules and mesenchymal cells

Answer 633

o Beckwith-Wiedemann syndrome (specific body parts overgrow; usually presents at birth; islet cell hyperplasia) o WAGR syndrome (Wilm’s tumour, Aniridia, Genitourinary malformations, (mental) Retardation) o Hemihypertrophy o 33% with a loss-of-function mutation in the WT1 gene on chromosome 11

Answer 634

Commonly: - Asymptomatic abdominal mass (MOST COMMON) - Painless haematuria Less common: - Abdominal pain - Anorexia - Anaemia (haemorrhage into mass) - Hypertension

Answer 635

Avoid biopsy as it may worsen the condition: - USS - CT/MRI

Answer 636

Staging 1-5: - 1 = limited to kidney, completely excisable - 2 = not limited to kidney, completely excisable - 3 = not limited to kidney, not completely excisable - 4 = spread beyond abdomen, haematogenous metastasis - 5 = bilateral (each tumour graded separately)

Answer 637

o Nephrectomy + chemotherapy (± radiotherapy prior to surgery if advanced disease) o 80% cure rate

Answer 638

• In children, the majority of these are primary, 60% are infratentorial • Most common solid organ tumour in childhood --> leading cause of childhood cancer deaths - Polocytic astrocytomas are the most common

Answer 639

(WHO grade I): - Most common child brain tumour (20% CNS tumours <14yo) - Common in neurofibromatosis I (NF1) - MRI: cerebellar; well circumscribed, cystic, enhancing - BRAF mutation present in 70% of cases Histopathology: - Piloid (hairy) cell - Rosenthal fibres and granular bodies - Slow growing with low mitotic activity

Answer 640

- Headaches (worse in morning, coughing) - Vomiting (on waking) - Gait problems, co-ordination problems, clumsy - Irritability, failure to thrive - Visual changes - Behaviour or personality change ↑ ICP → papilledema (disc oedema, obscuration of margins, elevation, venous congestion, haemorrhages): - May take between hours and weeks to develop so may not always be found at presentation - Benign intracranial hypertension = normal MRI, normal exam, papilloedema, 14yo, high BMI • Mx: LP with manometry --> siphon off CSF to reduce intracranial pressure + monitor - Separation of sutures/tense fontanelle, developmental delay or increased head circumference Focal signs (depending on location of tumour): - Intracranial HTN --> headache, vomiting, changed mental state - Supratentorial --> focal neurological deficits, seizures, personality change - Subtentorial --> cerebellar ataxia, long tract signs, cranial nerve palsies

Answer 641

MRI > CT / PET (higher dose of radiation)

Answer 642

MDT: paediatrician, neurologist, SN, OT, PT, SALT, psychology, radiologist, oncologist, CLIC Sargent - CLIC Sargent = Cancer and Leukaemia in Children social worker 1st line: Surgery (maximal safe resection to obtain and extensive excision with minimal damage to the patient) - Resectability is dependent on the location, site and number of lesions - Craniotomy --> debulking (subtotal and complete resections) - Open biopsies --> inoperable but approachable tumours - Stereotactic biopsy --> open biopsy not indicated o Radiotherapy --> used for… low and high-grade gliomas, metastases o Chemotherapy --> used for… high-grade gliomas (temozolomide) - Biological agents (EGFR inhibitors, PD-1 inhibitors etc.)

Answer 643

o 80% are ALL (85% of ALL is B-lineage; 15% T-cell lineage) o 20% are AML or acute non-lymphocytic leukaemias (Transient Abnormal Myelopoiesis in Down’s syndrome) o Peak incidence = 2-5yo; M > F

Answer 644

o Bone marrow failure (anaemia, thrombocytopenia, neutropoenia) o Local infiltration - Lymphadenopathy (± thymic enlargement) - Splenomegaly - “Leukaemia cutis” = petechial rash on face and trunk - Hepatomegaly - Testes, CNS (these are ‘sanctuary sites’ as chemotherapy cannot reach them easily) - Bone (causing pain)

Answer 645

FBC may show ‘tumour lysis syndrome’ = high K+, LDH, PO42-, uric acid o FBC and clotting studies – anaemia, neutropoenia, thrombocytopaenia, ±DIC o Peripheral blood film – lymphoblasts (any abnormalities, i.e. “Auer Rods”) o CXR – enlarged thymus o Bone marrow biopsy: - >20% blasts in BM or peripheral blood (and type of blast – B- and T-cell lineage treated differently) - Immunological and cytogenic characteristics

Answer 646

IMMEDIATE action high WCC --> reduce Tumour Lysis Syndrome: Allopurinol + hyperhydration o Specific therapy: - Systemic chemotherapy • 2-3 years of therapy (induction and consolidation) • Boys treated for longer because testes are a site of accumulation of lymphoblasts - CNS-directed therapy (e.g. intrathecal) • This is done in all patients even if initial LP is negative (6-8 treatments) • Can also be done by giving high-dose chemotherapy so that it penetrates the BBB - Molecular treatment: • Imatinib (Tyrosine Kinase Inhibitor / TKI) for Ph +ve cases • Rituximab (monoclonal antibodies against CD20 – for B-cell depletion) - Transplantation o Supportive care - Blood products - Antibiotics (broad-spectrum for fever; prophylaxis for PCP infection) - General medical care • Central venous catheter • Hyperuricaemia management • Hyperkalaemia management • Sometimes haemodialysis

Answer 647

o Children: 5-year disease-free survival of 80% | o Adults: 5-year disease-free survival of 30-40%

Answer 648

- Non-Caucasian - Male sex - Age <2 or >10yo - T/B-cell surface markers

Answer 649

Lymphoma (Paediatric-specific) = Hodgkin’s, Non-Hodgkin’s, (Burkitt’s) o NHL = more common in childhood o HL = more common in adolescence

Answer 650

o Hodgkin is more localised (usually only one nodal site) | o Hodgkin spreads contiguously to adjacent lymph nodes (NHL involves multiple sites and spreads sporadically)

Answer 651

``` o Classical (subtypes exist) o Nodular Lymphocyte Predominant HL (NLPHL) ```

Answer 652

- Painless lymphadenopathy (in neck) - Painful on drinking alcohol (in 10%) - B symptoms (fever, night sweats, weight loss)

Answer 653

o LN biopsy – Reed-Sternberg cells “Owl’s eyes” o PDG-PET or CT staging – Ann Arbor Staging --> o Bloods – FBC, ESR, LFTs, LDH, Alb – prognostic markers o Immunophenotyping – CD30, CD15 diagnostic markers

Answer 654

o Combination chemotherapy (ABVD) ± radiotherapy - Adriamycin - Bleomycin - Vincristine - DTIC (Dacarbazine) o PET scanning monitors response and guides therapy

Answer 655

Can be high- or low-grade, describing the speed and aggressiveness of onset: o Painless lymphadenopathy ± compression symptoms o B symptoms (fever, night sweats, weight loss)

Answer 656

o LN/BM biopsy (cytology, histology, immunophenotyping) o PDG-PET or CT staging – Ann Arbor Staging o Bloods – FBC, ESR, LFTs, LDH, Alb – prognostic markers

Answer 657

(1) Urgent chemotherapy (2) Monitor only (3) Antibiotic eradication (H. pylori gastric MALToma)

Answer 658

Treated with 6-8 cycles of - R(Rituximab)-CHOP - Cyclophosphamide - Rituximab to deplete B-cells - Adriamycin - Vincristine - Prednisolone Some eligible for HSCT

Answer 659

o Endemic – EBV infection (chronic malaria may reduce EBV resistance): - Most commonly in children living in malaria endemic regions - Most common childhood cancer in Africa - Involves JAW or facial bones o Sporadic – EBV infection - Western world, associated with EBV infection o Immunodeficiency – HIV infection - Usually associated with HIV infection - Or in those immunocompromised post-transplant

Answer 660

o Arises from germinal centre cells | o Starry-sky appearance

Answer 661

o C-myc translocation (8;14, 2;8 or 8;22)

Answer 662

Bad… the fastest growing human tumour known

Answer 663

Osteosarcoma incidence > Ewing’s sarcoma incidence (but Ewing’s is seen more often in younger children) o Most common primary bone malignancy of childhood / most common bone sarcoma o Occurs at the end of long bones (60-75% in knee) o M > F; 10-30yo (75% <20yo)

Answer 664

o Relatively painless, mass/swelling, restricted movement | o Rapid metastasis to lung

Answer 665

o XR (bone destruction and formation) - Soft tissue calcification = sunburst appearance - Elevated periosteum = “Codman’s triangle” o Biopsy o CT/PET/MRI

Answer 666

``` o Specialised sarcoma team (London) management o Surgery (limb-sparing surgery ± amputation) + chemotherapy o Post-treatment --> OT, PT, dietician, orthotics/prosthetics, support (sarcoma UK) ```

Answer 667

- Osteosarcoma = forms bone - Ewing’s sarcoma = forms mesenchymal tissue (neuroectodermal) - Chondrosarcoma = forms cartilage (occurs in those >40yo)

Answer 668

Poor (60% 5-year survival)

Answer 669

Primitive Neuroendocrine Tumour (PNET) / malignant, small round blue-cell tumour o <25y, median 15y o Long bones of arms, legs, chest, skull and trunk o Associated t (11:22) (EWSR1/FLI1) (q24; q12)

Answer 670

o Mass or swelling and bone pain | o Malaise, fever, paralysis (may precipitate osteomyelitis)

Answer 671

``` o XR (bone destruction with overlying onion-skin layers of periosteal bone formation) o Biopsy (small round blue cells) o CT/PET/MRI ```

Answer 672

o Specialised sarcoma team (London) management o Surgery (limb-sparing surgery ± amputation) + chemotherapy (VIDE) + radiotherapy o Post-treatment --> OT, PT, dietician, orthotics/prosthetics, support o Prognosis --> survival 5-year at 75% (20-40% for metastasis)

Answer 673

``` Malignant tumour of retinal cells; RARE but accounts for 5% of severe visual impairment in children o Unilateral (80% spontaneous, 20% hereditary) or bilateral (100% hereditary) o Autosomal dominant, chromosome 13 --> encodes pRB (protein retinoblastoma) o Average age of diagnosis = 18 months ```

Answer 674

o Red reflex -ve (i.e. a white pupillary reflex instead of normal red one) o Squint

Answer 675

o MRI and EUA | N.B. biopsy not required; treatment based on ophthalmology findings

Answer 676

``` o Enucleation (removal of eye, leaving eye muscles intact) o Chemotherapy (bilateral) + laser treatment to retina ± chemotherapy (advanced disease) ```

Answer 677

o Prognosis: - Most cured, some may be visually impaired (>90% survive to childhood) - Risk of secondary malignancy (sarcoma) in survivors of hereditary retinoblastoma

Answer 678

Arise from neural crest tissue in adrenal medulla and SNS; most common extra-cranial tumour in children o Spectrum of disease = benign (ganglioneuroma) --> malignant (neuroblastoma) o Most common <5yo; prognosis from AGE and STAGE of disease (>1yo, MYCN gene = poor prognosis)

Answer 679

o Abdominal mass (but tumour can be anywhere on the sympathetic chain) o Systemic symptoms – WL, pallor, hepatomegaly, bone pain, limp o Symptoms of spinal cord compression o Over 2yo --> symptoms of metastatic disease (bone pain, BM suppression, WL, malaise)

Answer 680

o Radiological findings o Raised urinary catecholamine metabolites (VMA/HVA) o Confirmatory biopsy from BM and MIBG sampling

Answer 681

o Spontaneous regression can occur in very young infants o Localised primaries without metastatic disease --> surgery alone o Metastatic disease --> chemotherapy + radiotherapy (with autologous stem cell rescue) + surgery - High risk of relapse

Answer 682

cure rates for children with metastatic disease is around 40%

Answer 683

Deficiency of factor 8 (A) or 9 (B) – intrinsic pathway defect – i.e. detect with APTT prolongation - X-linked recessive, primarily affecting males (A: 1 in 10,000; B = 1 in 50,000) - If a female is affected, it is likely they have Turner’s syndrome (only 1 X chromosome) - Most present around 1yo (when walking begins, and falling over begins)

Answer 684

Presenting around 1yo: - Heamarthrosis (leading to arthritis) - Suspicions of NAI (if no FHx) Presenting at neonatal age (40%): - Intracranial haemorrhage - Bleeding circumcision - Prolonged bleeding from venepuncture

Answer 685

o Neonate history (bleeding at… vit-K injection, umbilical cord separation, circumcision) o FHx o Clotting studies (PT/INR [extrinsic] and APTT [intrinsic]) --> APTT prolonged, PT normal o Platelet count + factor 8 levels (n.b. F8 is low in vWD as well as Haemophilia A) Same S/S: - Girl = vWD (AD) - Boys Haemophilia A

Answer 686

MDT: haemophilia centres: o Mild haemophilia A --> Desmopressin (stimulates F8 and VWF release) o Severe haemophilia --> prophylactic factor replacement (via central venous access device, i.e. HICKMAN) - At home, central prophylactic concentrate replacement; begins at 2-3yo, 2-3x/week - Raise baseline to above 2% o If actively bleeding: - IV infusion of F8/9 concentrate • Minor bleeds --> raise to 30% normal to treat minor/simple bleeds • Major bleeds --> raise to 100%; maintain at 30% for 2/52 to prevent secondary haemorrhage o AVOID: - IM injections - Aspirin - NSAIDs

Answer 687

- Chronic arthropathy, - compartment syndrome, - haematuria, - HBV (transfusion-related)

Answer 688

Idiopathic TP and (auto)immune TP are the same thing (‘immune’ is the newer terminology) o ITP is the most common cause of thrombocytopaenia in childhood; 4 in 100,000 o Presents between 2yo and 6yo; often 1-2w after viral infection o Aetiology = immune destruction of platelets by IgG autoantibodies

Answer 689

Short history (days to weeks): - Petechiae, purpura - Often presents much more acutely than in adults - Superficial bruising - Other: epistaxis (and other mucosal bleeding); RARE: intracranial bleeding (0.1-0.5%)

Answer 690

Diagnosis of exclusion (i.e. exclude genetic and leukaemia/cancer causes): o FBC o Blood smear

Answer 691

o 80% of children --> acute, benign and self-limiting condition --> resolve spontaneously within 6-8 weeks - Manage at home - Treatment only if evidence of major bleeding (e.g. intracranial) or persistent minor bleeding o Asymptomatic or Minor Bleeding (plts >20 x109/L) --> observation o Major Bleeding (plts <20 x109/L) --> IVIG + corticosteroids ± anti-RhD - Life-threatening haemorrhage --> platelet transfusion (raises plts for only a few hours) - Anti-RhD (anti-D coats the RBCs and is preferentially removed by the reticuloendothelial system in preference to the AB-covered platelets, thus conserving platelet levels) o Chronic Disease (if plts remain low 6/12 after diagnosis) - Mycophenolate mofetil - Rituximab - Eltrombopag (thrombopoietin agonist) - 2nd line = splenectomy

Answer 692

o Inadequate intake - common in infants o Malabsorption o Blood loss

Answer 693

o Breastmilk (low content, but 50% is absorbed) o Infant formula o Cow’s milk (high content, only 10% absorbed) o Solids introduced at weaning (i.e. cereal)

Answer 694

o Asymptomatic (until <60-70g/L) o Feed slowly / tire quickly o “Pica” (eating soil, dirt, etc.)

Answer 695

o Microcytic (low MCV) o Hypochromic o Low ferritin

Answer 696

o Dietary advise --> dark-green vegetables, meat, apricots, raisins o Oral ferrous sulphate, 200mg, TDS --> until normal Hb --> continue for at least 3/12 after: Monitoring: • Re-check iron levels 2-4w after therapy start (at 3w, Hb should rise 2g/100mL) • If normal, check at 2-4m (if not, address compliance issues) Advise black stools are a common and normal side effect (reduce by eating with food / reduce dose)

Answer 697

cognitive impairment, impaired muscular performance, preterm delivery

Answer 698

``` Thalassaemia Anaemia of Chronic Disease Iron deficiency anaemia Lead poisoning Sideroblastic anaemia (congenital) ```

Answer 699

``` Renal failure Iron deficiency (early) Anaemia of Chronic Disease (early) Aplastic anaemia, Acute blood loss Leukaemia Myelofibrosis ```

Answer 700

``` Alcoholism Myelodysplastic syndrome, Multiple myeloma Hypothyroidism, Haemolytic anaemia Liver failure Folate/B12 deficiency ```

Answer 701

o Chr 11 (beta, gamma, delta) and Chr 16 (alpha) o beta globin (Chr 11) changes affect HbA (alpha2beta2) o HbA synthesis becomes predominant around 6m of life as the HbF synthesis drops and HbA takes over

Answer 702

Structurally abnormal haemoglobin o Sickle Cell Anaemia = defective beta globin chain (point mutation at codon 6 on Chr 11) --> glutamine to valine) o Autosomal recessive; 1 in 2,000 births o RFs: Afrocaribean of African descent

Answer 703

Sickle cell train/HBAS: - Low HbA - Extra HbS+ - Mild anaemia Sickle cell anaemia: - very low HbA - high HbF - Extra HbS+++ - Sickle cell anaemia HbC disease: - Low HbA - Extra HbC+ - Milder sickling than HbSS

Answer 704

Reduced rate of synthesis of haemoglobin o Beta-thalassaemia = reduced synthesis of beta globin chain o Autosomal recessive --> manifests after the first 3-6m of life (decline of HbF and increased production of HbA)

Answer 705

Beta thal trait/minor: - Low HbA - High HbA2 - Asymptomatic/microcytosis Bete thal intermedia: - Low HbA - High HbA2 - High HbF - Mild anaemia Betal thal major: - Very low HbA - High HbA2 - very high HbF - Major anaemia

Answer 706

- α-thalassemia major / Hb Barts (x4 α-globin deletion) --> hydrops fetalis and death in utero - HbH disease (x3 α-globin deletion) --> mild/mod anaemia (occasionally transfusion dependent) - α-thalassemia trait (x1 or x2 α-globin deletion) --> asymptomatic with mild/no anaemia

Answer 707

gold-standard diagnosis of either sickle-cell disease or thalassaemia

Answer 708

- Normal beta globin chain = Glutamine = very +ve - Defective beta globin chain (HbS) = Valine = neutral - Defective beta globin chain (HbC) = Lysine = very -ve

Answer 709

- Hand and foot syndrome (swollen hands & feet; dactylitis*) - Acute chest syndrome (ACS) - Splenic sequestration --> anaemia, shock, death - Painful crises / vaso-occlusive (± priapism) - Infection (pneumococcus and parvovirus) - Splenomegaly (only in children) IMPORTANT: the anaemia in sickle cell anaemia is NOT totally due to haemolysis alone  HbS is a low-affinity Hb meaning that it more readily releases O2 to tissues, so the EPO-drive is lower which results in anaemia

Answer 710

- Family origins questionnaire (FOQ) – Afrocaribean of African descent, some northern Europe - Guthrie testing after antenatal screening - Solubility test (if cloudy, do the next step) --> haemoglobin electrophoresis (gold-standard) - FBC and blood smear (sickle cells, Howell-Jowell bodies (hyposplenism), nucleated RBCs)

Answer 711

o Education --> minimise trigger exposure for crises (cold, dehydration, excessive exercise, hypoxia) o Vaccination --> immunisation against encapsulated organisms (e.g. Pneumococcus / S. pneumoniae and HiB) - Parvovirus B19 infection infects RBC precursors and can lead to an APLASTIC anaemia - In Parvovirus B19 infection, reticulocyte counts will be LOW o Prophylaxis: - OD oral penicillin - OD oral folic acid (due to… hyperplastic erythropoiesis, growth spurts, increased turnover)

Answer 712

o Treatment of Acute Crises: - Analgesia (avoid morphine <12 years) - O2 - Hydration - Exchange transfusion (ACS, priapism, stroke) - Antibiotics (in infection; i.e. parvovirus)

Answer 713

Treatment of Chronic Problems: - Hydroxycarbamide (for recurrent hospital admission for ACS or vaso-occlusive crises) • Stimulated HbF production • Monitor for white blood cell suppression - HSCT (severe cases)

Answer 714

- Premature death due to complications - 50% of patients with the most severe form of sickle cell disease will die <40 years - Aplastic anaemia from B19 infection

Answer 715

- Extramedullary haematopoiesis --> bone expansion, hepatosplenomegaly, frontal bossing - Anaemia (3-6m of age) --> heart failure, growth retardation - Iron overload --> heart failure, gonadal failure

Answer 716

- Asymptomatic | - Microcytosis (normal/low-normal haemoglobin)

Answer 717

- Prenatal diagnosis (FOQ) - Beta thalassaemia major: • Blood transfusion (± iron chelation --> desferrioxamine, deferiprone) • HSCT (for beta thal major; reserved for children with an HLA-identical sibling)

Answer 718

- Prenatal diagnosis (FOQ) - Beta thalassaemia minor: • No treatment necessary

Answer 719

Aetiology = maternal ABs against foetal blood group antigens - <2 days old - Important Groups – Anti-D, Anti-A/B, anti-Kell - Mother always Rh -ve; baby is always Rh +ve - Mother ABs cross placenta or mix at delivery --> haemolysis - Sensitise when mother-baby blood mixing

Answer 720

- Yellow amniotic fluid - Hydrops fetalis (hepatosplenocardiomegaly) - Pallor - Jaundice 24-36 hours after birth (<2 days)

Answer 721

Prevention: - Prophylaxis after sensitising events <72hrs --> Kleiheur test can determine need for more… • 250 IU before 20 weeks • 500 IU after 20 weeks - Routine Antenatal Anti-D Prophylaxis (if necessary, from antibody screen at 28 weeks): • Either: o 2 doses of 500 IU at 28 and 34 weeks; OR o 1 dose of 1500 IU at 28 weeks; AND • Foetal cord gas post-delivery and prophylaxis <72 hours (500 IU anti-D) if baby +ve Kleiheur Treatment: - Phototherapy (uBR) and IVIG (if bilirubin is rising >8.5 umol/L/hr) - Severe or in utero --> transfusion (O, Rh -ve blood) into umbilical vein --> delivery 37-38w

Answer 722

- Aminoacidopathies (PKU, G6PDD, homocystinuria) - Urea cycle disorders (Citrullinaemia type III) - Organic acidaemias (Isovaleric acidaemia) - Carbohydrate disorders (Galactosaemia) - Neurotransmitter disorders

Answer 723

- Mitochondrial disorders (Barth (birth), MELAS (5-15yo), Kearns-Sayre (12-30yo)) - Fatty-acid oxidation disorders (MCADD) - Glycogen storage disease (Type 1 to 5; von-Gierke’s, Pompe, Cori, Anderson, McArdle)

Answer 724

- Lysosome storage disorders (Mucopolysaccharidoses, oligosaccharidosis, mucolipidoses) - Peroxisomal disorders (Zellweger syndrome)

Answer 725

- Hypoglycaemia - Lactic acidosis - Neutropoenia

Answer 726

o Congenital hypothyroidism o Cystic fibrosis o Sickle Cell Disease o 6 Inborn Errors in Metabolism / IEM (see below)

Answer 727

G6PD is the rate-limiting enzyme in the pentose-phosphate shunt (vital to prevent oxidative damage to RBCs) - RFs: 10-20% people from… central Africa, Mediterranean, Middle East, Far East - X-linked (affects males, homozygous females or ‘Lionised’ females – random X-chromosomes inactivated) Causative drugs: - Antimalarials (i.e. quinine) - Analgesics (i.e. high-dose aspirin) - Antibiotics (i.e. nitrofurantoin) - Chemicals (i.e. fava beans, naphthalene moth balls)

Answer 728

o Neonatal jaundice (<3/7 of life – most common cause requiring transfusion) o Acute intravascular haemolysis (precipitated by… infection, drugs, fava/broad beans, mothballs): - Fever - Malaise - Abdominal pain - Dark urine

Answer 729

Nothing abnormal between acute episodes… - Raised G6PD during an acute episode – higher enzyme concentration in reticulocytes - Reduced G6PD after the acute episode - Blood film (acute) --> Heinz bodies, bite cells 1st line Ix = G6PDD levels now and in 1 month

Answer 730

- Aware of signs of acute haemolysis (jaundice, pallor, dark urine) - Avoidance of specific drugs, chemicals and foods - Acute haemolysis --> supportive care + folic acid (blood transfusion rarely required)

Answer 731

The most common lysosomal storage disease (subtype: sphingolipidosis) - Gaucher disease (Beta-glucosidase deficiency (n.b. Pompe’s disease = alpha glucosidase)) - Fabry disease (Alpha-galactosidase A defect) - Niemann-Pick Disease type C (Cholesterol trafficking disorder) - Wolman disease (Lysosomal acid lipase defect) Autosomal recessive; most common lysosomal storage disease o Carrier rate of 1 in 100 --< 1 in 40,000 births o Ashkenazi Jew carrier rate 1 in 10 --> 1 in 500 births; other Ashkenazi Jew diseases… - Tay-Sachs disease = hexosaminidase A deficiency; S/S: deaf, blind, progressive neurodegeneration - Inflammatory bowel disease

Answer 732

Acute infantile form: - Hepatosplenomegaly - Neurological degeneration with seizures Chronic childhood form (most common): - Hepatosplenomegaly - BM suppression (with anaemia)

Answer 733

- FBC and blood film - LFTs and clotting - USS of liver and spleen (BM aspirate --> Gaucher cells)

Answer 734

- Splenectomy - Bisphosphonates - Enzyme replacement (IV recombinant glucocerebrosidase) - Anaemia treatment

Answer 735

There are 3 forms of galactosaemia but the most common is Galactose-1-Phosphate Uridyl Transferase deficiency o Gal-1-PUT deficiency

Answer 736

Usually presents in neonatal life with cBR and hypoglycaemia: o cBR o Hepatomegaly o Hypoglycaemia o Sepsis (gal-1-phos inhibits the immune response) If not picked up in infancy, can present in early life with bilateral cataracts - High concentrations of Gal-1-phosphate --> substrate for aldolase --> cataracts

Answer 737

o High galactose in urine | o Red cell Gal-1-PUT

Answer 738

Avoid galactose (e.g. milk)

Answer 739

o Type 1 - von Gierke’s glucose-6-phosphatase deficiency o Type 2 - Pompe’s alpha-glucosidase deficiency o Type 3 - Cori’s / Forbe’s amylo-1, 6-glucosidase deficiency o Type 4 - Anderson’s 1, 4-alpha-glucan branching enzyme deficiency o Type 5 - McArdle’s myophosphorylase deficiency

Answer 740

Glucose cannot be liberated from glucose-6-phosphate (G6P builds up inside the cells as G6-phosphotase is used to remove the high-energy phosphate group so the glucose can leave the cell)

Answer 741

Often has muscle cramps / weakness after first few minutes of exercise --> ‘second wind’ of energy

Answer 742

o Hypoglycaemia --> G6P cannot leave cells o Lactic acidosis --> G6P builds up as lactate o Neutropenia --> G6P supresses the immune system Hepatomegaly Nephromegaly

Answer 743

``` o Manage intake of CHO carefully to avoid storage o Pompe (T2-specific) --> alpha-glucosidase injections (Pompe is both a GSD and a lysosomal storage disease) ```

Answer 744

• Disorder of pilosebaceous follicles found in the face and upper trunk – at puberty, increased sebum --> blocked glands - Bacterium = Propionibacterium acnes - 20% of adolescents have moderate to severe acne • Levels of acne: o Comedones (follicles impacted and distended by incompletely desquamated keratinocytes and sebum) - Open (blackheads) or closed (whiteheads) o Papules and pustules o Nodulocystic and scarring

Answer 745

o Greasy face o Comedones, papules, pustules, nodules o Psychological impact, low self-esteem

Answer 746

For age 12yo onwards: o Advice: - Cleaning face --> avoid over-cleaning the skin (twice a day with gentle soap is ok) - Make-up --> use emollients and cleansers, non-comedogenic preparations - Face --> avoid picking and squeezing scars due to the risk of scarring

Answer 747

For age 12yo onwards: * Topical retinoid ± benzoyl peroxide (BPO) (Adapalene + BPO) * Topical antibiotic + benzoyl peroxide (BPO) (Topical clindamycin 1% + BPO) * Azelaic acid 20% may take up to 8w to begin working… / review each step at 8-12w

Answer 748

Not responding to topicals: • Oral antibiotic (max 3m) + BPO / retinoid (Oral tetracycline + BPO / adapalene) - 1st line = tetracyclines (Lymecycline, doxycycline) - 2nd line = macrolides (Erythromycin) • COCP + BPO / retinoid (COCP + BPO / adapalene)

Answer 749

Dermatologist referral: • Oral isotretinoin (Roaccutane) Once cleared, maintain with topical retinoids or azelaic acid (20%)

Answer 750

Synthetic form of vitamin A: - Very teratogenic – must be on 2 forms of contraception - SE: dryness, pruritis, conjunctivitis, muscle aches, teratogenic, deranged LFTs - Associated with low mood and suicidal ideation - Prescription --> aim for an accumulated dose = body weight x 100 • I.E. 80kg = 8,000mg accumulated dose

Answer 751

- Nodulocystic acne / scarring - Severe form (acne conglobata, acne fulminans) - Severe psychological distress - Diagnostic uncertainty - Failing to respond to medications

Answer 752

- NHS Choices leaflet on Acne | - British Association of Dermatologist

Answer 753

Eczema = chronic, relapsing, inflammatory skin condition characterised by an itchy red rash, commonly on flexures o Triggers: irritants, contact allergens, extremes of temperature (worse in winter), abrasive fabrics, sweating, dietary factors (10%), inhaled allergens (pollens, dust mite) o Classified as mild, moderate, severe and infected

Answer 754

o Infant – face and trunk o Older child – extensors of limbs (Many children grow out of eczema) o Young adult – localises to flexures

Answer 755

- Areas of dry skin, infrequent itching (± small areas of redness) - Little impact on everyday activities, sleep and psychosocial wellbeing

Answer 756

- Areas of dry skin, frequent itching, redness (± excoriation and localised skin thickening) - Moderate impact on everyday activities and psychosocial wellbeing, frequently disturbed sleep

Answer 757

- Widespread areas of dry skin, incessant itching, redness (± excoriation, extensive skin thickening, bleeding, oozing, cracking and alteration of pigmentation) - Severe limitation of everyday activities and psychosocial functioning, nightly loss of sleep

Answer 758

o Consider food allergies --> blood or skin prick testing | o Consider contact dermatitis --> patch testing

Answer 759

- Emollients | - Mild-potency topical corticosteroids

Answer 760

- Emollients - Moderate-potency topical corticosteroids (step-down approach) - Topical calcineurin inhibitors - Bandages

Answer 761

- Emollients - Potent topical corticosteroids - Systemic therapy - Phototherapy - Topical calcineurin inhibitors - Bandages

Answer 762

- Skin swab and culture | - Oral flucloxacillin (erythromycin if pen-allergic)

Answer 763

- Oral aciclovir - If around eyes, refer to ophthalmologist (same day) - Health education (emergency = rapidly worsening eczema, clustered blisters, punched-out erosions)

Answer 764

Emollients (e.g. 50/50, Dermol, e45 cream): - Minor differences between types (i.e. 50/50 very greasy, Dermol contains chlorhexidine, etc.) • Cream = some water (thin, contains preservative) • Ointment = no water (thick, no preservative) - Apply to whole body and wait 30 minutes before applying steroid creams - Apply with Finger-Tip Units (FTUs) / 500mg – reference: 1 FTU = palm of hand, elbows or knees

Answer 765

Topical corticosteroids: - OD or BD, apply only to active areas - Steroid ladder – Help (hydrocortisone) Every (Eumovate) Busy (Betnovate) Dermatologist (Dermovate) - SE: infections, thin skin, stretch marks, systemic side effects

Answer 766

Topical calcineurin inhibitors: - Topical to active eczema areas - Do not use under occlusive bandages

Answer 767

- Used with emollients for areas of chronic lichenified skin - Can be used for short-term flares (7-14 days)

Answer 768

- Severe itching / urticaria --> 1-month trial of a non-sedating antihistamine (e.g. fexofenadine, cetirizine) - Acute flare-up with sleep disturbance --> 7-14-day trial of a sedating antihistamine (e.g. promethazine)

Answer 769

o Immediate --> eczema herpeticum o Urgent referral (<2 weeks) --> severe atopic eczema not responded to optimum therapy within 1-week o Urgent referral (<2 weeks) --> treatment to bacterially infected eczema has failed o Non-urgent referral (>2 weeks) --> diagnosis uncertain, atopic eczema on face not responding, contact allergic dermatitis is suspected, causing significant social and psychological problems or severe recurrent infections

Answer 770

Present at birth Naevus flammeus = Port-wine stain in distribution of trigeminal nerve: o Sturge-Weber syndrome / Encephalotrigeminal Angiomatosis: - Flat patch --> bumpy - Aetiology: GNAQ mutation --> intracranial lesions - Epilepsy, contralateral hemiplegia, intellectual disability o Parkes Weber syndrome o Kippel-Trénaunay syndrome o Proteus syndrome Naevus simplex / Salmon patches / Stalk Bites / Angel’s Kiss: o Pink or red patch at birth o Goes redder when the infant cries

Answer 771

o Clinical diagnosis o 1st: USS o 2nd: MRI (Sturge-Weber)

Answer 772

Conservative

Answer 773

Develops a few days/weeks after birth, last around 6-10 months, then shrink o Capillary haemangioma is present at birth o RFs: LBW, prematurity, female, multiple gestation

Answer 774

o Superficial (50-60%) – bright red area of skin and feels warm - Not present at birth (appear in few days/weeks - rapidly grow --> regress over 1-2 years) - Upper eyelids, midforehead, nape of neck o Deep (15%) – blue in colour, forms a lump - Not present at birth (only evident after a few weeks) - May just look like a lump of normal skin o Mixed – bright red area on blue, forms a lump

Answer 775

Kaposiform haemangioendothelioma --> thrombocytopenia --> | - Haemangioma with thrombocytopenia

Answer 776

- Posterior fossa malformations - Haemangioma - Arterial anomalies - Cardiac anomalies / Co-arctation of the aorta - Eye anomalies - Sternal anomalies

Answer 777

- Lower body or lumbosacral haemangioma - Urogenital anomalies or ulceration - Myelopathy - Bony deformities - Anorectal and arterial anomalies - Renal anomalies

Answer 778

``` o Clinical diagnosis o USS --> MRI / MRA (gold-standard to diagnose complex vascular tumours) if the lesions are… - Deep - Single large capillary haemangioma - Multiple haemangiomas - Near the eye ```

Answer 779

o Conservative (easy bleeding, try not to catch it (apply pressure if bleeding); use Vaseline and avoid irritants) - Change from bright red to grey-purple, flatten and become less firm and more fatty - 50% involute by 5 years, 70% involute by 7 years and 90% involute by 9 years - Medical photography + review in 3 months o Topical or intra-lesional steroid o Topical timolol --> small superficial infantile haemangiomas; i.e. if near… - Eyes - Lips (often becomes ulcerated) - Nappy area - Nasal tip, ear o Oral propranolol --> larger lesions o Complication = ulceration (10-20%) --> antibiotics and analgesia

Answer 780

- Function threatening (periocular, nasal tip, ear, lips, genetalia) - Large facial, anogenital, perineal - Lumbosacral - Ulcerating - “Beard” distribution (laryngeal haemangioma) --> ENT referral - Multiple lesions (>5 --> USS liver)

Answer 781

Always present at birth (much rarer than infantile haemangiomas) o M = F o Rare

Answer 782

o Rapidly involuting congenital haemangiomas (RICH) - Maximum size by birth --> involute by 12-18 months o Non-involuting congenital haemangiomas (NICH) - Continue to grow as baby grows - Do not shrink after birth (unlike infantile haemangiomas and RICH) o Partially involuting congenital haemangiomas (PICH) - Combination RICH and NICH types

Answer 783

o Present at birth o Raised or flat, pink or purple o Transient thrombocytopenia

Answer 784

o USS | o Medical photography

Answer 785

NB. propranolol is not effective: o Conservative o Embolisation (if they need to be removed)

Answer 786

heart failure (if large enough, may generate a high blood flow)

Answer 787

Benign skin condition; affects ~50% of new-borns

Answer 788

EXCLUDE CONGENTIAL INFECTION: o Maculo-papular-pustular lesions (last for 1 day at a time) o Wax and wane over the first few days/weeks of life o Begins on the face and spreads to the limbs

Answer 789

Self-limiting

Answer 790

Milia = white pimples on nose and cheeks, from retention of keratin and sebaceous material of the pilosebaceous follicle

Answer 791

Neonatal --> affects up to 50% of new-borns - Often nose, but also mouth, palate, scalp, face, upper trunk - Heal spontaneously within a few weeks Primary: - Around eyelids, cheeks, forehead, genitalia - Should clear in a few weeks - Associated with trauma

Answer 792

Self-limiting

Answer 793

* Common viral infection (molluscum contagiosum / pox virus); 2-5yo * Skin-to-skin transmission but not very contagious (wear long-sleeve tops and don’t share towels)

Answer 794

o ≥1 small pink skin-coloured or pearly papules, ulcerated/umbilicated o Painless but may be itchy occasionally o Commonly found on the chest, abdomen, back, armpits, groin, back of knees

Answer 795

Acute = self-resolving (6-9 months; but normally within the year) - No need to avoid school - Long-sleeve clothes Chronic (>2 years) = cryotherapy

Answer 796

o Blue/black macular discolouration at base of the spine and on buttocks o Afro-Caribbean or Asian infant

Answer 797

self-limiting – they fade slowly over the first few years (by 4yo)

Answer 798

Common skin infection – Staphylococcus aureus, Streptococcus pneumonia

Answer 799

Golden-yellow, crusted appearance

Answer 800

Explain hygiene measures for all forms: Localised, non-bullous: - Topical H2O2 1% cream --> 2nd line: topical fusidic acid (2%) antibiotic Widespread, non-bullous: - Oral flucloxacillin OR topical fusidic acid (2%) antibiotic Bullous, systemically unwell: - Oral flucloxacillin School exclusion (until lesions crusted over or 48 hours after ABx started)

Answer 801

Fungal infection – dermatophyte fungi invade dead keratinous structures - Trichophytum rubrum

Answer 802

o Ringed appearance ± kerion (severe inflamed ringworm patch), red or silver rash o Tinea capitis – scalp o Tinea pedis – feet

Answer 803

Tinea Faciei, Tinea Corporis, Tinea Cruris or Tinea Pedis: - Mild --> topical antifungals (e.g. terbinafine cream, clotrimazole) - Moderate --> hydrocortisone 1% cream - Severe --> oral antifungals (1st line: oral terbinafine; 2nd line: oral itraconazole) Tinea Capitis: - oral antifungal (e.g. griseofulvin or terbinafine)

Answer 804

Advice (very contagious so take steps to prevent spread): - Wear loose-fitting cotton clothing - Wash affected areas of skin daily - Dry thoroughly after washing - Avoid scratching - Do not share towels - Wash clothes and bed lined frequently - No need for school exclusion

Answer 805

permethrin

Answer 806

Dandruff; presents in first 6 weeks, resolves over following weeks

Answer 807

Flaking skin on scalp (infants), erythematous, yellow, crusty, adherent layer (cradle cap) that can spread to behind ears, face, flexures → non-itchy, associated with Malassezia yeasts

Answer 808

I.E. Pityriasis versicolor causes by malassezia furfur o Clinical diagnosis o Skin scrapings for Malassezia, culture of swabs

Answer 809

Spontaneous resolution (by 8m) 1st line if scalp affected --> regular washing with baby shampoo --> gentle brushing to remove scales - Soaking crusts overnight with white petroleum jelly or slightly warmed vegetable/olive oil, and shampooing in the morning / soften scales with baby oil, gentle brush, wash off with baby shampoo - Emulsifying ointment can be used if these measures don’t work - If other areas of skin affected, bathe infant ≥1/day using emollient as a soap substitute 2nd line if scalp affected --> topical imidazole cream (e.g. clotrimazole, econazole, miconazole) - BD or TDS (depending on preparation) until symptoms disappear - Consider specialist advice if it lasts >4 weeks 3rd line if severe --> mild topical steroids (e.g. 1% hydrocortisone)

Answer 810

Most commonly a form of contact dermatitis o Babies 3-15 months of age o Follows damage to normal skin barrier – urine, faeces, friction, pre-existing conditions, damp predisposition

Answer 811

Erythematous macules and papules in genital area Irritant – well-demarcated variety of erythema, oedema, dryness, scaling - Sparing skin folds (just skin in contact with nappy is erythematous) Candida albicans – erythematous papules and plaques with small satellite spots or superficial pustules - Sharply demarcated redness - Check for oral candidiasis Seborrheic – cradle cap and bilateral salmon pink patches, desquamating flakes, skin folds

Answer 812

Health education (refer to NHS choices nappy rash leaflet/website): - Nappy type --> high-absorbency nappies that fit properly, disposable preferable to towel nappies - Leave nappy off as much as possible to help skin drying - Clean/change every 3-4 hours / ASAP after soiling • Use water, or fragrance-free or alcohol-free baby wipes • Dry gently after cleaning • Bath the child daily (do NOT use soap, bubble bath, lotions or talcum powder)

Answer 813

If mild erythema and the child is asymptomatic: - Advise on the use of barrier preparation (available OTC) – applied thinly at each change - Zinc and Castor oil ointment BP, Metanium ointment, white soft paraffin BP ointment

Answer 814

If moderate erythema and discomfort: | - If >1-month-old = hydrocortisone 1% cream OD (max 7 days)

Answer 815

If rash persists and CANDIDAL INFECTION is suspected or confirmed on swab - Advise against the use of barrier protection - Prescribe topical imidazole cream (e.g. clotrimazole, econazole, miconazole) If rash persists or BACTERIAL INFECTION is suspected or confirmed on swab - Prescribe oral flucloxacillin (clarithromycin if pen-allergic) for 7 days - Arrange to review the child

Answer 816

Most commonly lymphadenitis (background of an inflammatory/infective process) o Resource here o Lumps <1cm are generally normal in children

Answer 817

Red flags: - Sepsis/unwell - Stridor - Poor feeding - Change in voice - Rapid progression

Answer 818

Most common lumps: Thyroglossal cysts: • Most common midline congenital mass • Failure of thyroglossal duct to involute • S/S: midline mass that moves with swallowing Branchial cleft abnormality: • Most common lateral congenital mass • Failure of pharyngeal clefts to involute • S/S: cyst, sinus or fistula; may be infected Lymphadenitis: • Most common neck lump in children • S/S: transiently enlarged, tender lymph nodes • There may often be multiple small tender bumps

Answer 819

o Clinical examination o Systemic symptoms (FBC and blood film) o Thyroglossal cyst (USS) o Atypical lymphadenopathy (TB PPD test; bartonella henselae, EBV, CMV, HIV, toxoplasmosis serology)

Answer 820

Lymphadenitis --> self-limiting (6 weeks) --> secondary investigations for atypical lymphadenitis - ABx if secondary bacterial infection Thyroglossal cyst / Branchial cleft abnormality: - Asymptomatic --> conservative management - Symptomatic --> Sistrunk’s procedure (surgical removal)

Answer 821

Most common non-iatrogenic cause of low cortisol and MR secretion o Multiple forms of CAH – 90% are a deficiency of 21-hydroxylase enzyme o Autosomal recessive

Answer 822

o Virilisation of external genetalia - Female infants --> clitoromegaly, fusion of labia - Male infants --> enlarged penis and scrotum pigmented [much harder to see] o Salt-losing crisis [often the 1st sign in boys] - Week 1 to 3 of age – more common in boys (in girls, virilisation is noted early and CAH treated) - Vomiting, WL, hypotonia, circulatory collapse o Tall stature - Occurs in 20% of “non-salt losers” o Excess androgens --> muscular build, adult body odour, pubic hair, acne

Answer 823

o Initial (ambiguous genetalia, no external gonads) --> USS [examine internal genetalia] o Confirmatory (CAH) --> raised plasma 17a-hydroxyprogesterone (cannot do in a newborn) - The mother’s levels will often obscure the reading in a newborn - An USS for internal genetalia may often be the best first investigation of a newborn o Biochemical abnormalities [FBC]: - Salt-losing crisis --> low sodium, high potassium - Metabolic acidosis --> low bicarbonate - Hypoglycaemia --> low glucose from low cortisol o Other confirming tests: - Karyotyping - High urea (dehydrated) - Beta-hCG

Answer 824

o Corrective surgery – for affected females on the external genetalia - Girls are raised as girls (they have a uterus and ovaries) - Definitive surgery often delayed until early puberty o Long-term management: - Life-long glucocorticoids (hydrocortisone) to suppress ACTH levels (and hence testosterone) - Mineralocorticoids (fludrocortisone) if there is salt loss - Monitoring growth, skeletal maturity, plasma androgens and 17a-hydroxyprogesterone levels - Additional hormone replacement at times of illness or surgery [i.e. double hydrocortisone] o Salt-losing crisis --> IV hydrocortisone, IV saline, IV dextrose

Answer 825

An identical twin of a diabetic has a 30-40% chance of developing the disease

Answer 826

o Type 1 → 96% of DM children – destruction of pancreatic β1 cells o Type 2 → insulin resistance, usually in older children and obesity related o Type 3 → other – genetic defects, infections, drugs, pancreatic exocrine deficiency (CF), endocrine disease o Type 4 → GDM

Answer 827

Neonatal hypoglycaemia = jittery and hypotonic baby; RFs: - IUGR - Maternal DM - Premature - Hypothermia - Neonatal sepsis - Inborn errors of metabolism - Labetalol (pre-eclampsia)

Answer 828

``` o Early signs – often occur over a few weeks… - Most common ‘classical triad’: • Polydipsia • Polyuria • Weight loss ``` Less common: - Candida (and other infections) - Secondary enuresis - Skin sepsis Type-2 specific: • Acanthosis nigricans (sign of insulin resistance; ‘tanning’ in skin folds i.e. neck and axillae) • Skin tags • PCOS

Answer 829

- Acetone breath - Vomiting - Dehydration - Abdominal pain - Kussmaul breathing - Hypovolaemic shock - Drowsiness - Coma and death

Answer 830

- Sweating - Pallor - CNS irritability

Answer 831

``` o Blood glucose o Other (growth hormone, IGF-1, cortisol, insulin, C-peptide, fatty acids, ketones, etc.) ```

Answer 832

OGTT = 75g oral glucose --> 2 hours later measure blood glucose o Symptoms + Fasting ≥7.0mmol/L OR Random ≥11.1mmol/L o No symptoms + TWO of… Fasting ≥7.0mmol/L AND/OR Random ≥11.1mmol/L o No symptoms + OGTT ≥11.1mmol>L o HbA1c >6.5% / >48mmol/mol o Whole blood fasting plasma glucose ≥6.1mmol/L o Impaired Glucose Tolerance (IGT): - Fasting = <7.0 mmol/L - OGTT = 7.8-11.1 mmol/L o Impaired Fasting Glucose (IFG) – only if fasted: - Fasting = 6.1-7.0 mmol/L

Answer 833

3 types of insulin therapy: - 1st line --> Multiple Daily Injection Basal-Bolus: injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long-acting insulin analogue - 2nd line --> Continuous SC Insulin Infusion (insulin pump): programmable pump / insulin storage device that gives regular or continuous amounts of insulin (usually rapid- acting insulin or short-acting insulin) • If appropriate; often child needs to be older and in control of the diabetes - One, Two or Three Insulin Injections Per Day: injections of short-acting insulin or rapid-acting insulin analogue mixed with intermediate-acting insulin

Answer 834

Basic pathophysiology of diabetes: • Body attacking its own pancreas • Depleted ability to produce insulin - Insulin injection method and sites: • Types of insulin: • Long acting --> Glargine, Determir • Short acting --> Lispro, Glulisine, Aspart • Sites: antero-lateral thigh, buttocks, abdomen • Rotate sites frequently to avoid lipohypertrophy • Method: gently pinch up skin and inject at a 45-degree angle (avoid IM) • Not too deep (IM) and not too shallow - Blood glucose prick monitoring (glucose, ketones): • ≥5 capillary blood glucose a day (fasting = 4-7mmol/L; after meals = 5-9; driving = >5) • Ongoing real-time continuous monitoring with alarms for children with: • Frequent severe hypoglycaemia • Impaired hypoglycaemic awareness • Inability to recognise/relay symptoms of hypoglycaemia (i.e. cognitive disability) • HbA1c checked ≥4x per year (last 6-12 weeks overview) - Healthy diet and exercise: • Carbohydrate counting education from diagnosis and to family members (DAFNE) • 5 fruit and vegetables a day • Regular exercise (with insulin adjustment) ``` - ‘Sick-day rules’ during illness to prevent DKA: • Explain symptoms of DKA: • Nausea/vomiting • Abdominal pain • Hyperventilation • Dehydration • Reduced consciousness • Check blood ketones when ill or hyperglycaemic ``` - Recognition and treatment of hypoglycaemia: • Can be very individual (i.e. feeling ‘wobbly’, feeling sick) • Can develop/vary with age

Answer 835

Help and advice: • Offer 24hr helplines and voluntary groups (‘Diabetes UK’, DAFNE) • Access to mental health services (e.g. psychologist often part of the MDT) • School is often very involved (nurse aware)

Answer 836

Annual monitoring from 12yo for diabetic retinopathy, nephropathy and hypertension • Macrovascular complications --> HTN, CHD, CVD • Microvascular complications --> retinopathy, nephropathy, neuropathy

Answer 837

MDT = paediatrician, PDSN (specialist nurse), psychologist, school, (GP)

Answer 838

Hyperglycaemia, ketonuria, acidosis (1-year incidence of 3.6% in those with T1DM): o Causes – anything to raise the bodies need for insulin (thus the lack of insulin can --> DKA) - Discontinuation / not enough insulin (i.e. anorexic T1DM that want to lose weight) - Drugs – steroids, thiazides, SGLT-2 inhibitors - Physiological stress – pregnancy, trauma, surgery o Investigate: - Blood gases, blood glucose - Plasma osmolarity – will be hyper-osmolar (like in HONK/HHS; but is much higher in HHS) >29 o Management = fluid replacement --> IV insulin --> tx underlying cause - Lower rate fluid replacement than usual due to risk of cerebral oedema

Answer 839

Treating this depends upon the patient’s consciousness: o I.E. from too much insulin (± skipped meal) (N.B. care with IV dextrose as hypertonic) o Oral glucose (e.g. Coca-Cola --> banana) --> glucose gel to gums / IM glucagon --> IV glucose (e.g. dextrose)

Answer 840

Teenagers are more resistant to treatment as they find out they don’t have to always obey parents and be okay Interference: - Biological factors: • Insulin resistance 2nd to growth and sex hormone secretion • Growth and pubertal delay if diabetes control is poor - Psychological factors: • Reduced self-esteem (i.e. impaired body image) ``` - Social factors: • Different from peer group • Hypoglycaemia (emphasise differences) • Increased risk from alcohol, smoking, drugs • Vocation plans (can’t be a pilot) • Separation from parents more complex ```

Answer 841

o Transitional care = joined adult and paediatric care (16-22yo) clinics --> much better care! o Transference = immediate transfer of care to the adult team

Answer 842

Symptoms: - Weakness, leg cramps and visual disturbances - N&V (less than in DKA) - MASSIVE DEHYDRATION (e.g. dry membranes, confusion & lethargy) - Focal neurological symptoms (seizures in up to 25% --> coma in ~10%) Investigations: - Bloods – no hyperketonaemia, no acidosis - Serum osmolarity will be >320mOsmol/kg (normal 275-295) Same causes as DKA

Answer 843

(1) Diet & exercise (2) Oral monotherapy – metformin - 1st line = Biguanide / Metformin (sensitises cells to insulin) (3) Oral combination - 2nd line = sulphonylurea (increases insulin secretion of cells) – for non-obese T2DM • Glibenclamide Chlorpropamide Tolbutamide - 3rd line = a-glucosidase inhibitor (inhibits carbohydrase) – for post-prandial hyperglycaemia • Acarbose (4) Oral + injectable incretin mimetics (5) Oral + insulin (6) Insulin

Answer 844

Diagnosis = “D” diabetes (BM > 11.1mmol/L), “K” ketones (>3) and “A” acidosis (pH <7.3): DKA definition: - Metabolic acidosis (acidosis + bicarbonate of <15mmol/L); OR - Metabolic acidosis (pH <7.3 + ketones >3.0mmol/L)

Answer 845

Classify as mild, moderate and severe --> allow you to classify their dehydration status: - Mild DKA: pH <7.3 (5% fluid deficit) - Moderate DKA: pH <7.2 (7% fluid deficit) - Severe DKA: pH <7.1 (10% fluid deficit)

Answer 846

o ABCDE o Emergency fluid resuscitation: - Shocked --> 20mL/kg bolus (over 15 minutes) --> + 10mL/kg bolus if required (max 40mL/kg) - Not shocked --> 10mL/kg bolus (over 60 minutes) o Investigations (i.e. blood glucose, FBC, U&Es, blood gas, ketones) and full clinical assessment (inc. weight, GCS)

Answer 847

(1) Deficit = ((deficit x weight x 10) – initial bolus if non-shocked) --> replace over 48 hours - Mild DKA: pH <7.3 (5% fluid deficit) - Moderate DKA: pH <7.2 (7% fluid deficit) - Severe DKA: pH <7.1 (10% fluid deficit) (2) Maintenance requirement/or use the 4-2-1 method… - First 10kg = 100mL/kg/day - Next 10kg = +50mL/kg/day - Every kg above 20kg = +20mL/kg/day (3) Requirement of fluids – ensure 20mmol of KCl per 500mL saline (i.e. 40mmol per litre): - Requirement = deficit (- bolus in non-shocked children) + maintenance (4) Insulin / dextrose therapy after 1-2 hours of IV fluid replacement: Insulin Dose = IV 0.05-0.1 units/kg/hour - Start dextrose when <14mmol/L; change to SC insulin and then oral fluids if child starts to resolve - Monitor with ECG to identify hypokalaemia (ST depression, prominent U waves, flattened P waves)

Answer 848

Monitoring during therapy – monitor every hour; every 30 minutes if severe DKA or child <2yo: o Hourly --> CBG, vital signs, fluid balance (input/output), GCS, ± ECG o At 2 hours, every 4 hours --> glucose, U&Es, blood gas, beta-hydroxybutyrate

Answer 849

o Cerebral Oedema (~25% mortality): - S/S: headache, agitation or irritability, Cushing’s triad of ICP (bradycardia, hypertension, irregular breathing), other high ICP signs (low GCS, oculomotor palsies, pupillary inequality or dilatation) - Mx: mannitol or hypertonic saline; restrict fluid intake ``` o Hypokalaemia (<3mmol/L): - Mx: stop insulin temporarily ``` o Aspiration pneumonia o Inadequate resuscitation

Answer 850

Most common cause in boys due to CDGP (Constitutional Delay of Growth and Puberty) Delayed puberty = absence of pubertal development by… o Males, no testicular development (volume ≤4mL) by age 14 years o Females, no breast development by age 13 years OR Females, no periods by age 15 years

Answer 851

Growth faltering and referral: o If ≥75th centile, only refer once the centile drops ≥3 o If 25th – 75th centile, only refer once centile drops by ≥2 o If <25th centile, refer once centile drops by ≥1

Answer 852

Functional (most commonly): - Constitutional Delay of Growth and Puberty (GDGP; commonest in boys) • S/S: low bone age, no puberty signs, no organic causes • FHx; M > F – usually FHx of same delay in parent of same sex - Chronic disease, malnutrition - Psychiatric – excessive exercise, depression, anorexia nervosa

Answer 853

Hypogonadotrophic (low LH and FSH) hypogonadism: - Hypothalamo-pituitary disorders – panhypopituitarism, intercranial tumours - Kallmann’s syndrome (LHRH deficiency and anosmia), Prader-Willi syndrome - Hypothyroidism (acquired)

Answer 854

Hypergonadotrophic (high LH and FSH) hypogonadism: - Congenital – cryptorchidism, Klienfelter’s syndrome (47 XXY), Turner’s syndrome (45 XO) - Acquired – testicular torsion, chemotherapy, infection, trauma, autoimmune

Answer 855

Initial examination: - Charting (Height and weight plots, mid-parental height) and note dysmorphic features - Prader’s orchidometer (see picture) for boys; Tanner’s staging for girls Bloods: - Gonadotrophin-dependant vs independent --> LH and FSH levels (GnRH stimulation given if <12yo) - TSH, prolactin, testosterone Imaging --> bone age (from wrist X-ray), MRI brain Karyotyping

Answer 856

CDGP [most do not need treatment; fantastic prognosis]: - 1st line: reassure and offer observation - 2nd line: short course sex hormone therapy: • Boys --> short course IM testosterone (every 6 weeks for 6 months) • Girls --> transdermal oestrogen (6 months) --> cyclical progesterone once established o Primary testicular / ovarian failure – pubertal induction --> regular hormone replacement: - Boys: regular testosterone injections - Girls: oestrogen replacement (gradual to avoid premature fusion of epiphyses / overdeveloped breasts) o Address psychosocial concerns

Answer 857

Early normal puberty and precocious puberty are distinct conditions: o Early normal puberty (Girls Order of onset: “Boobs, Pubes, Grow, Flow”): - Girls = 8 < age ≤ 10 - Boys = 9 < age ≤ 12 o Precocious puberty (Girls “8” looks like boobs): - Girls = age <8yo - Boys = age <9yo

Answer 858

Girls = breast development (Tanner’s 5 breast development stages) - Stage 1 = flat - Stage 2 = buds appear, breast and nipple raised, fat forms, areola enlarges - Stage 3 = breasts grow larger (conical --> rounder shape) - Stage 4 = nipple and areola raise above mound; menstruation within 2 years of this stage - Stage 5 = mature adult breast is rounded, and only nipple is raised Boys = testicular development >4mL (Prader’s orchidometer)

Answer 859

- Premature activation of HPG axis - Idiopathic (no cause found in 80% girls and 40% boys) - CNS abnormalities (tumours, trauma, central congenital disorders)

Answer 860

20% of PP: - Early puberty from increased gonadal activation independent of HPG - Ovarian – follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma - Testicular – Leydig cell tumour, testotoxicosis (defective LH-R function; a familial GIPP) - Adrenal – CAH, Cushing’s syndrome - Tumours – b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals - McCune-Albright syndrome – a multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly • S/S: polyostotic fibrous dysplasia, café-au-lait spots, ovarian cysts - Exogenous hormones – COCP, testosterone gels

Answer 861

These are all generally self-limiting: - Premature thelarche [isolated breast development before 8yo; normally between 6m and 2yo]: • May occur in those <3yo --> spontaneously regresses (from maternal oestrogen early on) • Features of premature thelarche: • Absence of other pubertal signs/ Normal growth/ Normal USS of uterus / Rarely progress past Tanner stage 3 - Premature pubarche/adrenarche [isolated pubic hair development before 8yo (girls) or 9yo (boys)]: • Due to early adrenal androgen secretion in middle childhood • More common in Asian or Afro-Caribbean - Premature menarche [isolated vaginal bleeding before 8yo]

Answer 862

Females [normally not of concern] → pelvic USS - Premature onset of normal puberty --> multicystic ovaries and enlarging uterus - Rule out gonadal tumour, cysts Males [organic cause] → examination of testes, MRI (intracranial tumours), GnRH-stimulated LH/FSH - Most commonly has an organic cause • N.B. if LH and FSH are normal, any virilisation has a primary cause (i.e. adrenal hyperplasia) • CAH --> initial growth spurt (tallest in class) --> premature bone fusion (smallest in class) - Prader’s orchidometer measurement and examination of testes: • Bilateral enlargement → GDPP (intercranial lesion; i.e. optic glioma in NF1) • Unilateral enlargement→ gonadal tumour • Small testes → tumour or CAH (adrenal cause) General investigations: - GOLD-STANDARD: GnRH stimulation test – suppressed LH/FSH if G-independent • FSH, LH low = GIPP --> other tests… • FSH, LH high = GDPP --> other tests… - Wrist XR (non-dominant) for skeletal age - General hormone profile --> basal LH/FSH, serum testosterone and oestrogen - Urinary 17-OH progesterone if CAH suspected

Answer 863

REFER TO PAEDIATRIC ENDOCRINOLOGIST: o If GDPP with no underlying pathology, often no treatment is required o Gonadotrophin-Dependent Precocious Puberty (exclude neoplasms; n.b. 90% females no identifiable cause) - GnRH agonist (e.g. leuprolide) + GH therapy: • GnRH agonists overstimulate pituitary --> desensitisation --> arrest puberty • GH therapy used as GnRH agonists can stunt growth - GnRH agonist + cryproterone (anti-androgen) • Supresses peripheral androgen action o Gonadotrophin-Independent Precocious Puberty (exclude neoplasms): - McCune Albright or Testotoxicosis: 1st: ketoconazole or cyproterone; 2nd: aromatase inhibitors - CAH: hydrocortisone + GnRH agonist

Answer 864

>350 disorders leading to various degrees of dwarfism; most commonly due to… - Achondroplasia (S/S: arms and legs short, normal length thorax) - Hypochondroplasia (S/S: small stature, micromelia (small extremities), large head

Answer 865

height less than 2 S.D. below the mean

Answer 866

FGFR3 gene: - Defects --> achondroplasia, hypochondroplasia - Autosomal dominant defects in Fibroblast Growth Factor Receptor 3 (FGFR3) gene - FGFR3 gene causes severe bone shortening through constitutively active receptors SHOX (Short stature Homeobox) gene: - Defects --> Turner’s (XO) = 1 less SHOX; Klienfelter’s (XXXY) tall stature from >2 SHOX genes - X-linked; accounts for most cases of extreme short stature - Idiopathic short stature thought to be due to polymorphisms in this gene - RF: advancing parental age at time of conception

Answer 867

- S/S: blue sclera, short stature, loose joints, hearing loss, breathing problems - Types = 7 forms (type 1 is the most common = abnormal pro-alpha 1 or 2 collagen polypeptides)

Answer 868

Most common type of skeletal dysplasia: | - Autosomal dominant, but 70% are sporadic mutations in fibroblast growth factor receptor 3 – FGFR3

Answer 869

Signs & symptoms: - Short stature, shortening of limbs, ± hydrocephalus - Large head, frontal bossing - Depression of nasal bridge - Short, broad hands - Marked lumbar lordosis - ‘Trident Hands’

Answer 870

- Prenatal scans (not apparent until more than 22w GA so may be missed) - Clinical diagnosis (and XR findings) • Metaphyseal irregularity (inverted V metaphysis = ‘chevron deformity’ • Flaring in long bones, late-appearing irregular epiphyses - Molecular analysis confirmation

Answer 871

- Condition specific centile charts (final height 80-150cm), prone to excess weight gain - Regular follow-up (complications) • Gross motor skill delay • Kyphosis • Early osteoarthritis • Risks from hydrocephalus • Obesity • ENT issues

Answer 872

Must exclude Turners syndrome (karyotype)

Answer 873

Lack of thyroid hormones from birth: - Associated with irreversible neurological problems and poor growth if untreated Causes: - Thyroid gland defects (75%) – missing, ectopic or poorly developed thyroid, not inherited - Disorder of thyroid hormone metabolism (10%) – TSH unresponsive / defects in TG structure, inherited - Hypothalamic or pituitary dysfunction (5%) – tumours, ischemic damage, congenital defects - Transient hypothyroidism (10%) – maternal medication (carbimazole), maternal ABs (i.e. Hashimoto’s)

Answer 874

- Feeding difficulties, lethargy, constipation - Large fontanelles, myxoedema, nasal obstruction, low temperature, jaundice, hypotonia, pleural effusion, short stature, oedema, ± goitre ± congenital defects Unique symptoms: - coarse features, - macroglossia, - umbilical hernia

Answer 875

- High TSH and low T4 | - Measure thyroid autoantibodies ± US or radionucleotide scan

Answer 876

Early detection + replacement: - Thyroxine hormone replaced with levothyroxine OD, titrate dose to TFTs + regular monitoring - Monitor growth, milestones, development

Answer 877

Acquired: - Most common cause of acquired childhood hypothyroidism = Hashimoto’s autoimmune thyroiditis - More common in girls - RFs: Down’s syndrome, Turner’s syndrome

Answer 878

- Growth failure - Excess weight gain - Short stature

Answer 879

if treated, catch-up growth can rapidly occur

Answer 880

If mother has Grave’s disease, 1-2% of new-borns are hyperthyroid – due to circulating TSHr-AB which can cross the placenta, bind to TSHr and stimulate foetal thyroxine production

Answer 881

- Foetus = high CTG trace and foetal goitre on USS | - Neonate (<2w) = irritability, WL, tachycardia, heart failure, diarrhoea, exophthalmos

Answer 882

Medical management – 2 years: - Carbimazole or propylthiouracil • IMPORTANT: both thionamides are associated with a risk of neutropoenia • Safety net to seek medical attention and a blood count if sore throat or fever on treatment - Beta-blockers may be considered for symptomatic relief Other management: - Radioiodine treatment - Surgery

Answer 883

Classification (not on BMI): - Severely Obese: 99th centile - Obese: >95th centile - Overweight: 85-94th centile RFs: low socioeconomic status, poor diet, genetics, little exercise

Answer 884

- Growth chart plotting – BMI percentile chart, adjusted to age and gender - Nutritional assessment – BMI, triceps skinfold thickness - Bloods – cholesterol, triglyceride levels, endocrine assays for conditions e.g. adrenal disease - Urine – glucosuria – T2DM - Radiology – USS/CT/MRI head for specific conditions or syndromes

Answer 885

Exclude underlying medical condition Conservative: - Self-esteem and confidence building – early intervention is key - Address lifestyle (i.e. food diary and locate where they may eat too much) Therapeutic aims: - Reduce excess weight whilst not compromising growth needs - Dietary counselling with vitamin & micronutrient supplementation - Behaviour modification (adjust approach dependent on age group) - Stepwise physical activity programme – increase activity & decrease inactivity - Adherence to plan needs strong support from child and family - Fat intake <30% of total calories Surgical – not recommended in young people

Answer 886

- Psychosocial – bullying, discrimination, isolation - Growth – advanced bone age, increased height, early menarche - Respiratory system – sleep apnoea, Pickwickian syndrome (obesity hyperventilation syndrome) - Orthopaedic – slipped capital femoral epiphysis, Blount disease (varus bowing of tibia) - Metabolic syndrome – insulin resistance, atherogenic dyslipidaemia from inc. TG and decreased HDL and HTN - Hepatobiliary – hepatis steatosis, gallstones

Answer 887

Impaired skeletal growth through inadequate mineralisation of bone laid down at the epiphyseal growth plates

Answer 888

Calcium deficiency: - Dietary - Malabsorption Vitamin D defects: - Deficiency – diet, malabsorption, lack of sunlight, iatrogenic (drug induced – phenytoin therapy) - Metabolic defect – 1α hydroxylase deficiency, liver disease, renal disease - Defect in action – HVDRR (Hereditary Vitamin D Receptor Resistant) Rickets Phosphate deficiency: - Reduced phosphate intake - Renal tubular phosphate loss → hypophosphatemic rickets (X-linked, AR or AD) - Acquired hypophosphatemic rickets --> Fanconi syndrome, renal tubular acidosis, nephrotoxic drugs

Answer 889

o Growth delay or arrest o Bone pain, fracture o Skeletal – swelling wrists/costochondral junctions (rickets rosary), bowed long bones, frontal bossing

Answer 890

X-ray: - Thickened and widened epiphysis - Cupping metaphysis - Bowing diaphysis Biochemical: - Reduced Ca2+ and PO42- - Raised ALP - Ca2+ x PO42- = <2.4 = diagnostic

Answer 891

- Prevention – infants receive daily VitD in formula/multivitamin, pregnant/lactating women receive 400iu/day - Dietary sources – fatty fish (herring, mackerel, salmon, tuna), egg yolk, fortified foods, shop bought milk, cereals Correct low vitamin D levels with increased intake: - Calcium supplements - Oral vitamin D2 (ergocalciferol) or oral vitamin D3 (cholecalciferol) Periodic measurement of serum calcium, phosphate, ALP, urine calcium: creatinine ratio

Answer 892

Unique fracture patterns in children because of: - Compressibility of bones - Increased fibrous strength of periosteum - Presence of physes (growth plates) Consider NAI with every child fracture

Answer 893

Clavicle – from shoulder dystocia --> great prognosis, no specific treatment needed Humerus or femur – from breech delivery --> heals rapidly with immobilisation

Answer 894

Pain management: - <16yo --> oral ibuprofen/paracetamol (IV if severe) - >16yo --> paracetamol ± codeine ± IV morphine Manipulation and reduction (consider IV local anaesthetic) - Radial fractures --> elbow plaster cast or k-wire fixation - Femoral shaft fractures: • Neonates (0-28 days) – padded splints or Pavlik’s harness • <18 months – Gallows traction • 1-6 years – straight leg skin traction • >4 years – intramedullary nail (+ more support if >11y)

Answer 895

- 1st line: intranasal/oral midazolam or NO | - 2nd line / severe: intranasal ketamine

Answer 896

“X-ray only indicated if…” - Pain in malleolar zone and… • Bone tenderness at the posterior edge or tip of the lateral malleolus (A); OR • Bone tenderness at the posterior edge or tip of the medial malleolus (B); OR • An inability to bear weight both immediately and in the emergency department for four steps - Pain in the mid-foot zone and… • Bone tenderness at the base of the fifth metatarsal (C); OR • Bone tenderness at the navicular (D); OR • An inability to bear weight both immediately and in the emergency department for four steps

Answer 897

“X-ray only indicated if…” (for age 2yo+) - Age 55+; OR - Isolated patellar tenderness; OR - Cannot flex to 90 degrees; OR - An inability to bear weight both immediately and in the emergency department for four steps

Answer 898

Avascular necrosis of femoral epiphysis from an interruption of blood supply (osteochondritis) --> followed by revascularisation and re-ossification over 18-36m --> complication: premature fusion of growth plates ± osteoarthritis

Answer 899

Epidemiology = mainly boys (5x) 4-8yo o Bilateral in 10-20% o Commonly mistaken for transient synovitis

Answer 900

- Hyperactivity | - Short stature

Answer 901

Insidious presentation, limp, hip/knee pain --> limb shortening

Answer 902

X-Ray ± MRI (early stages might not show up, so MRI scan may be needed) - “Increased density of femoral head”, subsequently becomes… - “Fragmented and irregular” / “Flattened femoral head” Roll test – pt. supine, roll affected hip internally and externally  guarding or spasm (esp. on internal)

Answer 903

Simple analgesia for pain management <6 years --> observation (mobilisation and monitoring as healing potentials are good at this age) - Non-surgical containment using splints >6 years --> surgery

Answer 904

Osteochondritis (inflammation of cartilage or bone) of the patellar tendon insertion at the knee - May be caused by multiple small avulsion fractures from contractions of quadriceps muscle at their insertion into proximal tibial apophysis (ossification centre) – during growth spurt - Epidemiology = 4% of 10-15yo physically active - Bilateral in 25-50%

Answer 905

- Knee pain after exercise (gradual onset) --> relieved by rest - Localised tenderness and swelling over tibial tuberosity - Hamstring tightness

Answer 906

Clinical diagnosis ± XR (may be indicated by Ottawa knee rules): - XR --> fragmentation of the tibial tubercle + overlying soft tissue swelling

Answer 907

- Analgesia (paracetamol or NSAIDs), ice packs (intermittent and over the tibial tuberosity, 10-15 minutes, ≤3/day, including after exercise), protective knee pads (may relieve pain when kneeling), stretching - Reassure --> this will resolve over time but may persist until the end of a growth spurt

Answer 908

Advise stopping/reducing all sporting activity (intensity, frequency or duration) - Could change type of exercise to limit running and jumping requiring powerful quadriceps contraction - As symptoms decrease, they can gradually increase their exercise levels - Introduce low-impact quadriceps exercises (e.g. straight leg raises, cycling or swimming)

Answer 909

* Anterior knee pain from degeneration of articular cartilage on posterior surface of patella * Common in young adults from overuse in physical activity

Answer 910

o Anterior knee pain o Pain exacerbated by running, climbing stairs or getting up from a chair o Painless passive movements but repeated extension --> pain and grating sensation

Answer 911

o Physiotherapy (strengthen the quadriceps)

Answer 912

Reduced blood flow --> cracks form in the articular cartilage and subchondral bone --> avascular necrosis --> fragmentation of bone and cartilage with free movement of fragments --> activity-related joint pain

Answer 913

o Pain after exercise | o Catching, locking and giving way

Answer 914

• Infection of the metaphysis of long bones, commonly the distal femur and proximal tibia - Growth plates in children can prevent further spread into joints - In infants, before maturation of the growth plates, there can still be possible joint destruction • Often due to haematogenous spread (can be from direct insult) – commonly, staphylococcus aureus o Normally <5yo

Answer 915

Most chronic in onset and less severe than septic arthritis (i.e. over a week rather than a day): o Fever o Acute onset limb pain, immobile limb, skin swollen, tender and erythematous

Answer 916

o Septic screen o Blood cultures and FBC (↑ WCC, ↑ CRP/ESR) o Joint aspiration and MC&S o XR --> MRI of the joint (shows soft tissue) - USS can be used - XR often normal until late disease progress (i.e. >7 days --> osteopaenia, bone destruction)

Answer 917

Acute Osteomyelitis --> high-dose IV empirical --> narrow spectrum antibiotics (usually for 2-4 weeks): - 1st line: Flucloxacillin - 2nd line: • Penicillin-allergic --> Clindamycin • MRSA --> Vancomycin - Take blood cultures before starting IV ABx - IV to oral once CRP returns to normal - Surgical debridement may be necessary if there is dead bone or a biofilm

Answer 918

- Clinical assessment, disease staging (Cierny-Mader classification) and optimisation of comorbidities - Surgical debridement - IV antibiotics - Functional rehabilitation

Answer 919

Infectious arthritis of the synovial joint (vs osteomyelitis of bone); hip = 75% of cases o Most common in children <2yo; often presents late Aetiology: - Usually haematogenous spread (may occur following puncture around or infected skin lesions) - RFs: RhA, osteoarthritis, joint prosthesis, crystal arthritis, chronic disease, immunosuppression Organism: Staphylococcus aureus (Salmonella is most associated with SCD; however, SA is still more common)

Answer 920

- Single joint, usually hip - Erythematous, warm, tender; reduced range of movement; infants will hold limb still (pseudoparalysis) / cry - Acute unwell, febrile child

Answer 921

- Septic screen - Blood cultures and FBC (↑ WCC, ↑ CRP/ESR) - Joint aspiration and MC&S - 1st: XR (not evident until >2-3w of symptoms) - 2nd: MRI (shows soft tissue and effusions/collections)

Answer 922

(IV (2 weeks) --> oral (4 weeks) ABx): - 1st line: Flucloxacillin - 2nd line: - Penicillin-allergic --> Clindamycin - MRSA --> Vancomycin - Gram-negative --> 3rd generation cephalosporin (e.g. cefotaxime) o Joint wash-out and aspirated to dryness PRN (through closed needle aspiration or arthroscopically) o Washing out of the joint or surgical drainage may be required

Answer 923

• Most common chronic inflammatory joint disease in children/adolescents in the UK • JIA = persistent joint swelling (>6w duration) presenting before 16yo, in the absence of infection or other defined cause - 95% have disease distinct from RhA in adults (think of it like a distinct child’s form of RhA) - 1 in 1,000 children (i.e. common as epilepsy)

Answer 924

≥7 clinical subtypes of JIA – clinical classification and based on number of joints affected in first 6m and presence of rheumatoid factor and HLA B27 tissue type - Polyarthritis = >4 joints - Oligoarthritis = ≤4 joints - Systemic with fever and rash - Gelling (stiffness after periods of rest) - Morning joint stiffness/pain - Intermittent limp - Limited movement

Answer 925

- Inflammation ± bone expansion (overgrowth with leg lengthening/valgus in systemic onset) • Genu valgum / “Knock Knees” - Salmon-coloured rash (Koebner phenomenon) --> pathogenomic of systemic JIA - Intermittent fever - Visual impairment (chronic anterior uveitis) - Swan-neck deformity and hand problems

Answer 926

Clinical diagnosis: o Bloods, imaging to provide classification and prognostic information o ANA, FBC, RhF, CRP/ESR, anti-CCP o USS ± MRI

Answer 927

MDT rheumatology management: - OT and PT (inactivity leads to deconditioning, disability and decreased bone mass) - NSAID analgesia (pain and stiffness) - Corticosteroids (whilst waiting for second-line agents to have an effect): high to low dose… o Intra-articular o High dose to induce a remission-state --> switch to low dose oral to maintain - DMARDs --> used when disease fails to respond to conventional treatments o 1st line = oral/SC methotrexate o 2nd line = sulfasalazine - DMARDs indications = JIA, RhA, SLE, psoriasis - DMARD medications = methotrexate, sulfasalazine, MMF, hydroxychloroquine, cyclophosphamide, ciclosporin, azathioprine, tacrolimus, IM gold, tofacitinib, apremilast, penicillamine, leflunomide - Regular blood tests required o Biologics / cytokine modulators (i.e. TNF-a inhibitors) o Other treatments: interleukin receptor antagonists, anti-emetics

Answer 928

Most children can expect good disease control and quality of life: - With poor disease control, patients can experience significant morbidity from joint damage and visual impairment leading to anterior uveitis and fractures from osteoporosis Other complications: - Chronic anterior uveitis (often insidious) - Constitutional problems (i.e. anaemia) - Flexion contractures of the joints - Osteoporosis - Growth failure - Amyloidosis

Answer 929

Causative organisms (preceding): - Enteric bacteria – Salmonella, Shigella, Campylobacter, Yersinia - Viral infections - STIs (adolescents) – chlamydia, gonococcus - Other – mycoplasma, borrelia burgdorferi / Lyme disease

Answer 930

- Transient joint swelling (<6w duration) – often ankles or knees - Follows evidence of extra-articular infection - Low-grade fever

Answer 931

A diagnosis of exclusion as no +ve findings: - Bloods (CRP normal or mildly elevated) - Normal XR

Answer 932

- Self-limiting | - Analgesia / NSAIDs

Answer 933

- Slipped upper femoral epiphysis - Displacement of epiphysis of femoral head postero-inferiorly, requiring prompt treatment to prevent avascular necrosis o Adolescent (10-15yo during growth spurts); bilateral in 20% - Risk factors = obesity, metabolic endocrine disease (i.e. hypothyroid, hypogonadism), male

Answer 934

- Limp/hip pain ± referred to the knee - Insidious or acute onset (i.e. after minor trauma) - “Loss of internal rotation of a flexed hip” - Trendelenburg gait +ve (lean on one side)

Answer 935

Hip XR in AP and frog-lateral view (both hips) | - Trethowan sign; loss of triangular sign of Capener; metaphyseal blanch sign

Answer 936

- Analgesia, bed-bound | - Surgical internal fixation at growth plate

Answer 937

Transient synovitis = irritable hip; 3-10yo - If age <3yo with an acute limp – urgent hospital assessment Commonest cause of hip pain in children

Answer 938

- Acute hip pain associated with a viral infection | - Low-grade fever

Answer 939

- Clinical | - Self-limiting

Answer 940

Distinguishing transient synovitis from septic arthritis ``` More likely to be due to septic arthritis if: • Temperature >38.5C • Unable to bear weight on limb • ESR >40 • WCC >12 ``` ``` 0 = not likely 1 = 3% SA risk 2 = 40% SA risk 3 = 93% SA risk 4 = 100% SA risk  ```

Answer 941

Spectrum of conditions affecting proximal femur and acetabulum, ranging subluxation to frank dislocation o True DDH = femoral head has a persistently abnormal relationship with acetabulum --> abnormal bony development, premature arthritis and significant disability RF: female (5x), FHx, breech presentation, first born, multiple pregnancy, oligohydramnios, high BW / macrosomia

Answer 942

o Neonatal screening (Barlow and Ortolani +ve) o Limp or abnormal gait, delayed crawling/walking, toe-walking o Asymmetrical skin folds o Limb-length discrepancy (Galeazzi sign – baby on back, legs together and knees flexed – look at leg length)

Answer 943

o <6m old --> Barlow and Ortolani manoeuvre at neonatal screen ± USS (if suspicion remains) o >6m old --> X-ray (better than USS at this age) o USS regardless of presentation at 6 weeks if: - Born breech (irrespective of mode of delivery); OR - FHx (1st degree family member) of DDH

Answer 944

1st line (newborn) = Pavlik harness (most will resolve spontaneously by 3-6w of age) - Harness --> keeps hips flexed and abducted - Worn constantly for several weeks - Progress is monitored by repeat ultrasound or X-ray Complications: • Avascular necrosis • Temporary femoral nerve palsy 2nd line (>6 months old) = surgery (if conservative measures fail OR no progress with harness)

Answer 945

Breath-holding attacks – toddler upset --> cries and holds breath --> goes blue, lose consciousness and goes limp o Attacks resolve spontaneously, drug therapy unhelpful o Manage with behaviour modification and distraction

Answer 946

Reflex anoxic seizures (infants and toddlers): o Triggered by – pain, head trauma, cold food (ice cream), fright, fever o Child becomes pale and falls to floor ± general tonic clonic fitting --> brief seizure and rapid recovery o Episodes due to cardiac asystole due to vagal inhibition

Answer 947

Febrile convulsion = a seizure and fever in the absence of intracranial infection o 6m to 3yo (shouldn’t occur in older children) o Genetic predisposition (30% will have further seizures)

Answer 948

o Brief, generalised tonic-clonic seizure on background of fever o Simple febrile seizure --> do not cause brain damage and no increases risk of epilepsy o Complex febrile seizures* --> focal, >15 minutes, repeated in same illness, ↑ risk 4-12% of subsequent epilepsy

Answer 949

``` After a febrile seizure: o Identify and manage cause of fever o No other main investigations (EEG not recommended) o Potentially: - Screen for meningitis/encephalitis - Urine MC&S if infection source unclear - Blood glucose ```

Answer 950

Management during a seizure**: - Protect from injury (cushion their head, remove nearby objects) and do not restrain - Seizure lasts <5 minutes --> do nothing (unless if… 1st seizure, severe cause, breathing problems) - Seizure lasts >5 minutes (no drugs available) --> call ambulance (if no medication available) - Seizure lasts >5 minutes (drugs available) --> administer one of the below – doses on BNFc: • PR diazepam (repeated once after 5 minutes if the seizure hasn't stopped); OR • Buccal midazolam - 10 minutes after first dose ongoing seizure, twitching, or another seizure --> call ambulance

Answer 951

If ongoing seizure in HOSPITAL --> Status Epilepticus Guidelines - 1st seizure (of any duration and cause) - Suspect seizure caused by serious illness - Seizure lasts >5 minutes (no drugs) - Breathing difficulties

Answer 952

Immediately after – check ABCs and place in recovery position

Answer 953

- First febrile seizure - <18 months old - Diagnostic uncertainty about cause - Complex febrile seizure (>15mins, focal, repeat <24 hrs, no recovery <1hr) - Currently on ABx

Answer 954

- Febrile convulsions are not the same as epilepsy - Simple: no increased risk of future epilepsy - 33%-50% will have another febrile convulsion - Complex: slight increased risk of epilepsy (4-12%) - If recurrent --> teach parents how to give medications - Continue routine immunizations Managing a fever: - Do not try and cool the child - Regular paracetamol and ibuprofen - Adequate fluid intake - Seek advice if prolonged fever

Answer 955

a disease characterised by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological and social consequences of the condition

Answer 956

Transient occurrence of signs or symptoms due to abnormal excessive or synchronous activity in the brain: o Focal (partial) → start in one part of the brain o Generalised → more distributed, affect both hemispheres of the brain

Answer 957

- Genetic predisposition - Perinatal asphyxia - Metabolic disorders - Trauma - Structural CNS abnormalities - Complex febrile seizures

Answer 958

New classification according to International League Against Epilepsy 2017: 1. Where seizures begin in the brain - Focal - Unknown - Generalised - Focal to bilateral 2. Level of awareness - Focal aware (awareness intact) - Focal impaired - Awareness unknown (unwitnessed) - Generalised (presumed to affect awareness) 3. Other features of seizure - Focal onset: • Motor onset (movements can include → twitching, jerking, stiffening, automatisms) • Non-motor (cognitive, emotional, sensory) - Generalised onset: • Motor → tonic (stiffening) and clonic (jerking) = “Grand Mal” • Non-motor → absence, brief changes in awareness ± automatic/repeated movements N.B. focal to bilateral is the old term for secondary generalised (now generalised only applies to how the seizure begins, and not the fact that it became a generalised after starting as focal) A “focal aware, motor onset seizure” or say, a “generalised non-motor seizure” = absence seizure

Answer 959

Absence / generalised non-motor seizure: • Brief impairment of consciousness, 5-10 seconds • Behavioural arrest or staring – interrupting normal activity

Answer 960

Tonic-clonic: • Patient falls unconscious ± preceding aura • Violent muscle contractions and shaking • Eyes may roll back, tongue biting, incontinence • Post-ictal phenomena

Answer 961

Myoclonic: • Brief arrhythmic muscular jerking movements • Last a few seconds, sudden jerking or twitching 3-12yo Benign Rolandic Epilepsy (BRE) (most common childhood epilepsy) o S/S: seizures of face / upper limbs during sleep with hypersalivation & speech arrest o AKA: Sylvian seizures o Childhood (age 3-12yo) seizures – outgrown at end of puberty 12-18yo Juvenile myoclonic epilepsy: o Usually involving neck, shoulders, upper arms, most occur after waking up o Begin around puberty Progressive myoclonic epilepsy: o Rare syndromes o Combination of myoclonic and tonic-clonic o Patient deteriorates over time

Answer 962

MDT: paediatrician, neurologist, SN (epilepsy nurse), school nurse, GP Referral to neurologist if 1st fit (“first fit clinic”) --> whilst waiting for referral, advise… - How to recognise a seizure Video record future seizure - Avoid dangerous activities (i.e. swimming) Seek help if another seizure before referral Treatment decisions – not all children will require antiepileptic drugs: - Choice to treat based on --> seizure types, epilepsy type, frequency • Needs to be weighed against possibility of side effects from antiepileptics - Treatment is NOT usually given for Benign Rolandic Epilepsy Appropriate Antiepileptic Drug (AED) Choice: - Appropriate AED for seizure and epilepsy type (as some make the seizures worse) • Lamotrigine --> exacerbate myoclonic seizures • Carbamazepine --> exacerbate absence seizures - Monotherapy at lowest dose possible (potential adverse side effects) • Can use adjuncts to monotherapy but aim for lowest dose possible - Rescue therapy for prolonged epileptic seizures (convulsive with loss of consciousness >5 minutes) • Buccal midazolam - No monitoring requires (apart from carbamazepine) - AED therapy may be discontinued after 2 years free of seizures Generalised: - Tonic-Clonic --> valproate 2nd line: lamotrigine, carbamazepine, oxcarbazepine - Absence --> valproate, ethosuximide 2nd line: lamotrigine - Myoclonic --> valproate 2nd line: levetiracetam, topiramate - Focal --> carbamazepine, lamotrigine 2nd line: levetiracetam, oxcarbazepine, valproate Side effects: • Valproate --> weight gain, hair loss, rare idiosyncratic liver failure • Carbamazepine --> rash, neutropoenia, hyponatraemia (SIADH), ataxia, inducer • Lamotrigine --> severe skin rash (SJS) • Levetiracetam --> sedation (rare)

Answer 963

Other treatment options in children with intractable epilepsies: - Ketogenic diets (low carb, fat based) - Vagal nerve stimulation - Surgery (only in children with epilepsy that has a well-localised structural cause)

Answer 964

- 1 epileptic seizure lasting >5 minutes; OR - ≥2 seizures within a 5-minute period without the person returning to normal between them; OR - 1 febrile seizure lasting >30 minutes

Answer 965

Causes and aetiology: - Symptomatic (any disorder causing brain damage) - Prenatal conditions - Genetic syndromes - Hypoxic/ischaemic/trauma brain damage - Congenital infections - Idiopathic

Answer 966

o Spasms – sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds - “Salam attacks” – head goes down and arms go up in the air - Looks like ‘colic’ - Contractions last 5-10 seconds - From gentle nodding of the head to powerful movements of the body - Occur in clusters, usually associated with waking or before sleeping o Psychomotor delay o Hyperpigmented skin lesions o Growth restriction

Answer 967

EEG (hypsarrhythmia – disordered activity in the brain)

Answer 968

o Poor prognosis | o Vigabatrin or corticosteroids

Answer 969

Emotional → fear, pain, shock, sudden sounds or sights Orthostatic → prolonged standing, crowds, hot

Answer 970

- Brief LOC, - spontaneous recovery, - no signs of seizure activity, - link to trigger

Answer 971

- Lying and standing BP with ECG if indicated (i.e. query cardiac cause) - FBC (rule out anaemia ± bleeding)

Answer 972

- Avoid triggers | - Lie down flat to avoid fainting

Answer 973

Children are at a high risk for contusion and intracerebral haemorrhage following head injury, but they are also at an increased risk from CT radiation to the head causing cancer so clear guidelines depict CT scanning in children

Answer 974

Head injury and ≥2 of the following --> CT scan <1 hour; if just 1 of the following --> observe for a minimum of 4 hours o LOC >5 minutes o Abnormal drowsiness o ≥3 episodes of vomiting o Dangerous mechanism / high-impact injury o Amnesia >5 minutes (anterograde and retrograde) Head injury and 1 or more of the following --> CT scan <1 hour o NAI o Post-traumatic seizure (no epilepsy history) o GCS <14 o 2 hours after injury GCS <15 o Suspected open/depressed skull fracture / tense fontanelle o Basal skull fracture signs (i.e. racoon eyes, battle sign, rhinorrhoea) o Focal neurological deficit o Child <1yr and bruise, swelling or laceration >5cm on head

Answer 975

• Usually following direct trauma • Can be associated with skull fracture – tear of middle meningeal artery o Battle sign o Racoon eyes

Answer 976

``` o Lucid interval followed by deterioration of consciousness and seizures o Potential focal neurological signs - Dilatation of ipsilateral pupil - Paresis of contralateral limb - Anaemia - Shock ```

Answer 977

• Results from tear of vein as they cross the subdural space o Gradually decreasing GCS (no lucid interval, just gradually decreasing) • Characteristically NAI with shaking of a baby or direct trauma • Potential retinal haemorrhages

Answer 978

Rare in children; cause often aneurysm or AVM

Answer 979

acute onset head pain, neck stiffness, fever ± seizures or coma

Answer 980

CT, avoid LP (due to risk of increased ICP)

Answer 981

neurosurgery or interventional radiology

Answer 982

Bleeding into ventricles, occurs more often in premature babies due to VLBW and LBW: o Grade I – bleeding just in germinal matrix o Grade II – intraventricular bleeding (but no enlargement) o Grade III – intraventricular bleeding with enlargement ventricles o Grade IV – bleeding extends into brain tissue around ventricles - After grade 3 or 4, blood clots can form which can lead to secondary hydrocephalus - 50% with progressive post-haemorrhagic ventricular dilatation --> cerebral palsy in later life Bilateral multiple cysts = Periventricular Leukomalacia (PVL) = 80-90% risk of spastic diplegia (Cerebral Palsy) - Periventricular white matter damage --> difficult to detect --> if cystic lesions become evident 2-4w later on USS, there is a definite loss of white matter (bilateral multiple cysts = Periventricular Leukomalacia / PVL)

Answer 983

Due to changes in perfusion of the delicate cellular structures present in the growing brain from… - ECMO (Extra-Corporeal Membrane Oxygenation) in preterm babies (severe RDS) - Congenital CMV infection

Answer 984

o Presenting = sleepiness and lethargy | o Other = apnoea, reduced/absent Moro reflex, low tone, tense fontanelle

Answer 985

trans-fontanelle USS

Answer 986

o Fluid replacement o Anticonvulsant o Acetazolamide (reduce CSF) ± LP o Ventriculo-peritoneal Shunt (VPS) – if hydrocephalus

Answer 987

Hydrocephalus = increased volume of CSF occupying ventricles

Answer 988

Communicating → flow of CSF is obstructed after it exits the ventricles (failure to resorb CSF); causes: - Meningitis (pneumococcal, TB) - SAH

Answer 989

Non-communicating → flow of CSF is obstructed within the ventricles; causes: - Congenital --> Aqueduct stenosis (often of cerebral aqueduct (3rd to 4th ventricles) blocked) • Dandy-Walker malformation (4th ventricle enlarged with no outlets) • Chiari malformation (cerebellar tonsils displaced down through foramen magnum) - Acquired --> Aqueduct stenosis • IVH (preterm infants; grade 3 or 4) • Tumour

Answer 990

o Acute: vomiting, irritable, impaired consciousness o Chronic: FTT, developmental delays o Other: ↑ head circumference, tense fontanelle, increased tone, papilloedema, ataxic gait, 6th nerve palsy o Sunset sign – eyes appear to be driven down bilaterally

Answer 991

o Cranial USS | o Measure head circumference

Answer 992

o 1st line = Ventriculoperitoneal shunt (may fail due to blockage or infection --> require replacement) - May require removal of obstruction - Sometimes, endoscopic treatment to create a ventriculostomy is performed o Medical = furosemide (inhibit CSF production)

Answer 993

* Primary → migraine, tension-type, cluster, other * Secondary → symptomatic of underlying pathology (↑ ICP, SOL, alcohol) * Trigeminal and other cranial neuralgias → e.g. nerve root pain from herpes zoster

Answer 994

- Episodic = <15 days/month | - Chronic = ≥15 days/month

Answer 995

Tension-type --> symmetrical headache, gradual onset, “tight band” Migraine --> without aura = 90% migraines; aura = 10% migraines: - W/O aura --> 1-72hrs, bilateral/unilateral, pulsatile temporal, GI symptoms, worse with physical activity - With aura = aura (visual, sensory or motor), maybe no headache, few hours, FHx, trigger (stress, foods) • Visual --> -ve signs (hemianopia, scotoma); +ve signs (fortification spectra or “zigzag lines”) General: - FHx of migraine - Headache after eating certain foods - Vomiting/pallor - Preceding aura - Unilateral, throbbing, >1 hour Cluster --> unilateral (eye, side of face), sharp/burning/throbbing, watery/swollen eye/face, occur in clusters Secondary --> visual field defects, gait or cranial nerve abnormalities, growth failure, papilloedema, etc.

Answer 996

o Good history and examination (imaging not needed unless red flag symptoms; i.e. early morning headache)

Answer 997

Medical education: - Headaches are common - No long-term harm ``` Medications: - Analgesia --> ibuprofen > paracetamol - Anti-emetics: • 6+ cyclizine • 12+ prochlorperazine, metoclopramide (2nd line: codeine phosphate) - Serotonin 5HT1 agonists: • 12+ triptans (sumatriptan) ``` Migraine-specific: - Assess the severity and frequency of attacks, and the impact on the patient's life: • Quality of attacks – intensity and site of pain, associated symptoms • Timing and frequency – when they start, reason for consultation, how often they occur, temporal pattern, how long they last, time off school - Identify cause --> emotional problems (i.e. bullying), general health, etc. • Consider headache diary (8 weeks) • Optician referral • Consider psychiatry referral • Weight, height, BP Acute Management (in 12-17-year olds): • Step 1: simple analgesia (paracetamol, ibuprofen – no aspirin <16yo due to Reye’s syndrome) • Step 2: nasal sumatriptan (oral cannot be used in people <18yo) • Step 3: combination nasal triptan and NSAID/paracetamol - Consider anti-emetics (metoclopramide or prochlorperazine) - Follow-up in 1 month or return if symptoms worsen • Prophylaxis: - Topiramate (risk of foetal malformations) - Propranolol (not in asthmatics)

Answer 998

Tics = fast, repetitive muscle movements that result in sudden and difficult to control body jolts or sounds o Common, appear around 5yo, not usually serious, most disappear by adulthood - May come and go over several years - 1 in 3 rules (1 in 3 won’t have tics as an adult, 1 in 3 have mild tics, 1 in 3 will have severe tics) o Genetic component --> can occur alongside OCD and ADHD o Tourette’s = chronic and multiple tics --> no cure; treatments the same as the below - Tics must begin before 18yo - Must persist for longer than 1 year - Exclude any other cause

Answer 999

o Brought about by triggers, focussing on them can make them worse o Types = motor, vocal or phonic types; e.g. - Blinking - Clicking fingers - Coughing, grunting - Repeating sound or phrase

Answer 1000

o Self-help (sleep & stress management, don’t draw attention to tic, don’t tell child off for it, etc.) o Very debilitating: - Habit reversal therapy (learn movements to "compete" with tics, so tics can't happen at the same time) - Exposure with response prevention / ERP (help the child get used to the unpleasant sensations that are often felt just before a tic, which can stop the tic occurring) o Medications: - 1st line = antipsychotics (i.e. risperidone) – N.B. SEs: weight gain, blurred vision, constipation, dry mouth - 2nd line: • Clonidine – treat tics and ADHD at the same time • Clonazepam • Tetrabenazine – treats tics that are caused by an underlying condition (i.e. Huntington’s) • Botulinum toxin – injected into the certain muscle but only last <3m o Surgery --> deep brain stimulation therapy (for severe Tourette’s syndrome)

Answer 1001

Most common muscular dystrophy; 1 in 3,000-6,000 male infants o X-linked recessive (males affected mainly); 1/3rd have de novo mutations though o Symptoms 1-3yo --> 5yo diagnosis --> no longer ambulant by ~10yo --> medial LE 35yo - LE is increasing more and more (lower DALYs) as care improves (i.e. glucocorticoids) o Deletion of dystrophin gene: - Connects cytoskeleton of muscle fibres to ECM through cell membrane - Where deficient --> influx of Ca2+ --> calmodulin breakdown --> excess free radicals --> myofibre necrosis

Answer 1002

o Developmental delay (persistent waddling gait, language delay) – n.b. there is some language delay - Toe-walking - Mount stairs one-at-a-time - Decreased tone and power - Run slowly, tire quickly o Gower’s sign – the need to turn prone to rise o Pseudohypertrophy of calves (due to replacement of muscle fibres by fat and fibrous tissue) o Primary dilated cardiomyopathy

Answer 1003

o Clinical history and examination o Plasma CKP (creatine phosphokinase --> elevated) – due to myofibre necrosis o EMG, genetic testing, biopsy

Answer 1004

No cure, often management is to alleviate the symptoms: o Physiotherapy (to clear lungs) and exercise (help prevent contractures) o Psychological support o Medical: - CPAP (weakness of intercostal muscles --> nocturnal hypoxia --> daytime headache, irritability, etc.) - Glucocorticoids (delay need for wheelchair) - Cardioprotective drugs (i.e. carvedilol; for preservation of left ventricular ejection fraction) o Surgery (PRN): - Tendoachilles lengthening - Scoliosis surgery (often co-presents) may be required

Answer 1005

Same signs & symptoms as Duchenne’s MD, but often less severe and progresses at a slower rate o Learn to walk a little later than usual o Muscle cramps after exercise o Struggle with sports at school o As they age, they struggle with lifting objects, etc. Can walk into their 40s and 50s but then require a wheelchair

Answer 1006

Autosomal dominant; trinucleotide repeat disorder o Most common adult-onset (20s to 30s) muscular dystrophy o Genetic anticipation (gets worse/earlier onset as the gene is passed down generations) o Varied life expectancy (from death at neonatal age in severe forms to normal life expectancy)

Answer 1007

o Muscles contract and are unable to relax o Progressive muscle loss and weakness (smaller muscles > larger muscles; reverse of Duchenne’s) o Heart problems, cataracts, abnormal intellectual functioning, myotonia

Answer 1008

``` Fragile X (CGG) Huntington's (CAG) Myotonic dystrophy (CTG) Friedreich's ataxia* (GAA) Spinocerebellar ataxia Spinobulbar muscular atrophy Dentatorubral pallidoluysian atrophy ```

Answer 1009

NF1 = AD, high penetrance (variable expression), 1 in 3,000 live births o Mutation in NF1 gene – 50% are a de novo mutation o NF2 → like NF1 but more internal/hidden signs – less common, presents in adolescence, bilateral acoustic neuromas ± deafness, cerebellopontine angle syndrome with facial nerve paresis and cerebellar ataxia

Answer 1010

- MEN2 - Phaeochromocytoma (VHL, NF1, MEN2) - Pulmonary HTN - RAS with HTN

Answer 1011

Need ≥2 of the following to diagnose: o ≥6 café au lait spots, >5mm pre-puberty, >15mm post-puberty - Cutaneous features more prominent after puberty o >1 neurofibroma – firm nodular overgrowth of nerve o Axillary freckles o Optic glioma ± visual impairment o One Lisch nodule – hamartoma of iris (on slit-lamp exam) o Bony lesions from spheroid dysplasia ± eye protrusion o First degree relative with NF1

Answer 1012

TS = 1 in 9,000, AD, 70% new mutations o Genetic mutation in TSC1 or 2 genes o Rare genetic condition, causes mainly non-cancerous (benign) tumours to develop in different parts of the body

Answer 1013

Cutaneous features: - Woods Lamp --> “Ash Leaf” patch / amelanotic naevi - Shagreen patches (rough skin on lumbar spine) - Angiofibromata (butterfly facial distribution) Neuro features: - Infantile spasms / developmental delay - Epilepsy (focal) - Intellectual disability (often with ASD) Other features: - Subungual fibromata - Dense white areas on retina (local degeneration) - Rhabdomyomata of heart - Angiomyolipoma Nodules develop in brain --> subependymal giant cell astrocytoma --> non-communicating hydrocephalus

Answer 1014

``` o CT scan (calcified subependymal nodules and tubers from 2+ years) o MRI (more sensitive and clearly identified other tubers and lesions) ```

Answer 1015

Sporadic disorder → haemangiomatous facial lesion (port-wine stain) in distribution of the trigeminal nerve o Lesion intracranially = ipsilateral leptomeningeal angioma o Ophthalmic division of trigeminal nerve always involved

Answer 1016

- Epilepsy (may benefit from hemispherotomy) Intellectual disability - Contralateral hemiplegia - Glaucoma (50%) - Phaeochromocytoma

Answer 1017

- MRI | - Outdated --> head x-ray (“rail-road” track sign)

Answer 1018

Communication of emotional distress, troubled relationships, and personal predicaments through bodily symptoms (i.e. somatic symptoms)

Answer 1019

o Recurrent abdominal pain (peak age 9yo) – sharp and colicky - Affects 10% of school-aged children - Majority of cases have no organic cause - Apley’s rule “the further the pain from the umbilicus, the more likely the pain is of an organic nature” o Recurrent headaches (peak age 12yo) o Limb pain, aching muscles, fatigue, neurological symptoms (>12yo)

Answer 1020

``` Diagnosis of exclusion: o Full physical examination o Full, detailed history (especially social) --> school, friends and family, timeline of pain - Can be done alone (no parents) - Reports from school can be useful ```

Answer 1021

o 1st line: - Promote communication between family and child (and school if necessary) - Pain-coping skills – i.e. relaxation techniques for headaches o 2nd line (if 1st line fails or serious family dysfunction / impaired general functioning) --> referral to CAMHS

Answer 1022

Developmental delay = taking longer to reach developmental milestones than would be expected for children their age Aetiology: - Genetics – Cerebral palsy, - Down’s syndrome - Epilepsy - Infection - Malabsorption disorders – coeliac, IBD - Metabolic causes – hypothyroidism - Autism, ADHD, learning disabilities, eating disorders - Depression & anxiety

Answer 1023

- Isolated developmental delay in one domain - FHx of delay/syndrome - Global delay - Dysmorphic features

Answer 1024

- Metabolic, genetic, infection screen - IQ test - ASD or ADHD testing

Answer 1025

o MDT – SALT, OT, PT, family counselling, behavioural intervention, educational assistance o Manage associated conditions o Prognosis – usually good if isolated but global delay has high association with syndromes with poor prognosis

Answer 1026

In children – bacterial or allergic be wary of sight-threatening conjunctivitis in neonates In adults – viral or allergic

Answer 1027

``` Bacterial / viral (painful red eyes, lacrimation ± purulent discharge, “gritty eyes”, NO visual change) o Allergic (bilateral, pruritic (ITCHING) ) ``` Neonate: - <48hrs of life --> discharge ± conjunctivitis, swelling eyelids --> Gonococcus - 1-2w of life --> discharge ± conjunctivitis, swelling eyelids ± pneumonia --> Chlamydia trachomatis

Answer 1028

o Bacterial --> swab MC&S staphylococcal or streptococcal o Viral --> rapid adenovirus immunoassay o Neonate gonococcal infection --> gram stain, culture o Neonate chlamydia infection --> immunofluorescent staining

Answer 1029

o Most viral/bacterial infections are self-limiting o Neonate gonococcal infection --> immediate empirical treatment 3rd gen cephalosporin (i.e. ceftriaxone) * o Neonate chlamydia infection --> oral erythromycin, 2 weeks *

Answer 1030

Long sight (see long distance (not short) and rays focus behind retina): o Mild hypermetropia common in early childhood (corrected by improvement of accommodation reflex) o Management --> glasses (convex lens – make the eye look bigger)

Answer 1031

Short sight (see short distance (not long) and rays focus in front of retina): o Uncommon in childhood, more common in teenagers - Childhood conditions = pre-term refractive errors o Management --> glasses (concave lens)

Answer 1032

Affects developing blood vessels at the junction of the vascularised and non-vascularised retina o Aetiology: vascular proliferation → retinal detachment → fibrosis → blindness o Risk factors: uncontrolled use of high concentrations of O2 (seen in 35% of LBW infants)

Answer 1033

o Unusual eye movements | o White pupils and vision loss

Answer 1034

``` o Screening (LBW <1500g, or prematurity <32w gestation) o 1st line: laser photocoagulation or cryotherapy ``` Prognosis --> severe bilateral visual impairment in 1% of LBW infants, mostly in infants <28w gestation

Answer 1035

Abnormal alignment of eyes - S/S: eyes look in different directions and do not focus simultaneously on a single point - Diagnosed 1-4yo; normal in young infants before 6m Two types: o Non-paralytic (refractive error in one or more eye) o Paralytic (squinting eye could be caused by motor nerve paralysis or SOL) – i.e. 3rd nerve palsy

Answer 1036

Before 8yo, as this is when brain connections can be rewired until: - 1st line = Eyeglasses - 2nd line = Eye patching - 3rd line = Eye drops - 4th line = Eye muscle surgery

Answer 1037

- Bruising (on non-contact areas) - Broken bones (spiral fractures of long bones; non-ambulant) - Drowsiness (subdural haematoma) - Neglect (unkempt) - Failure to thrive - STIs, recurrent UTIs - History not consistent - Torn frenulum labii superioris (tongue) - Glove and stocking burn - Anal fissures, encopresis

Answer 1038

30% father 15% unrelated men 10% older brothers

Answer 1039

o Senior colleagues o Named doctor for child protection o Contact social services and make a formal referral o Consider contacting the police (Child Abuse Investigation Team / CAIT) - Convene a case conference - Place child’s name on child protection register - Give support to parents - Ask for regular follow-up by paediatricians o Consider contacting Multi-Agency Safeguarding Hub (MASH) - Includes a variety of people that help manage different aspects of a child’s life

Answer 1040

Classical triad of features: (1) Retinal haemorrhages (2) CT --> brain swelling / encephalopathy (3) CT --> subdural haematoma

Answer 1041

o Full body ± skeletal survey (have to note ALL blemishes on child’s body on a body map) o Check Child Protection Register o CT head scan o Bloods and bone profile (rule out leukaemia, ITP, haemophilia) o Fundoscopy (retinal haemorrhages)

Answer 1042

o GENERAL RULE: if you are suspecting NAI, it is always safe to admit the child o Child in need plan --> a plan made to give children extra support for health, safety ± developmental issues o Child protection plan --> a plan made to protect children thought to be at risk of significant harm o “This is a routine requirement for all children in these situations, and our aim is to keep your child safe” o “Sometimes when children have similar injuries, they don’t happen by accident and are caused others”

Answer 1043

SIDS = deaths which remain unexplained after a post-mortem o Peak age 2-4m (90% <6m old) o Most common cause of death in 1m-1yo - RFs: front-sleeping baby, prematurity, LBW, male, maternal smoking, microenvironment (pillow, duvet, heat) - Protective factors: dummies, breast feeding, room sharing Police and Coroner always called in any case of unexpected death and Police Child Protection team are involved

Answer 1044

AVOID: Sleep Positioning/Wrapping: - Supine sleep position (back for first 6 months) – “Back to Sleep” Campaign • Increased chance of flattened occiput (deformational plagiocephaly) • Ameliorate with supervised “tummy time” (prone time) when awake - Avoid overheating baby (no heavy wrapping or high room temperature) - “Feet to foot” position in cot General advice: - Share a room with your baby for first 6m of life (cot in room) - Never sleep on a sofa or armchair with baby - Do not co-sleep (i.e. in adult bed with baby) - Breastfeed baby if possible - Keep baby smoke free – during pregnancy and after birth Support: - Lullaby Trust – info, leaflets, bereavement support helpline, befrienders, support groups

Answer 1045

No Exclusion: - Conjunctivitis - Slapped cheek syndrome (fifth disease) - Hand, Foot & Mouth - Roseola infantum - Infectious mononucleosis - Head lice - Threadworms Exclusion for 24 hours after Antibiotics: - Scarlet fever Exclusion for 48 hours after Antibiotics: - Whooping cough (if no antibiotics are given, exclude for 21 days from onset of symptoms) Exclusion for 4 days from onset of rash: - Measles - Rubella Exclusion until all lesions crusted over: - Chickenpox - Impetigo Exclusion for 5 days from onset of swollen glands: - Mumps Until symptoms have settled for 48 hours: - Diarrhoea and vomiting Until treated: - Scabies Until recovered: - Influenza

Answer 1046

* The young person understands the professional's advice * The young person cannot be persuaded to inform their parents or allow the professional to contact them on their behalf * The young person is likely to begin, or continue having, sexual intercourse with or without contraceptive treatment * Unless the young person receives contraceptive treatment, their physical or mental health, or both, is likely to suffer * Young person's best interests require them to receive contraceptive advice/treatment with/without parental consent

Answer 1047

• Parkland’s formula

Answer 1048

Ceftriaxone + clindamycin