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Selected Notes paeds 2 Flashcards

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1
Q

In patients with androgen insensitivity syndrome why don’t female internal organs develop?

A

Testes produce anti-Mullerian hormone->prevents males from developing upper vagina, uterus, cervix and fallopian tubes

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2
Q

How would hormonal tests look in a patient with androgen insensitivity syndrome?

A

<ul><li>Raised LH</li><li>Normal/raised FSH</li><li>Normal/raised testosterone (for a male)</li><li>Raised oestrogen(for a male)</li></ul>

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3
Q

How is androgen insensitivity syndrome managed?

A

<ul><li>Specialist MDT: paeds gynae, urology, endo, psych</li><li>Counselling-generally <b>raised as female</b></li><li>Bilateral orchidectomy(avoid testicular tumours)</li><li>Oestrogen therapy</li><li>Vaginal dilators/surgery to create an adequate vaginal length</li></ul>

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4
Q

Give some examples of learning disabilities

A

<ul><li>Down's</li><li>ASD and aspergers</li><li>Williams</li><li>Fragile X</li><li>Global developmental delay</li><li>Cerebral palsy</li></ul>

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5
Q

How do children with fragile X present?

A

<ul><li>Large face</li><li>Large protruding ears</li><li>Intellectual impariment</li><li>Post pubertal macroorchidism</li><li>Social anxiety</li><li>ASD features</li></ul>

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6
Q

Name some differentials for fragile X

A

<ul><li>ASD(no physical characteristics)</li><li>Down's</li><li>Turner's</li></ul>

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7
Q

How is Fragile X syndrome diagnosed?

A

<ul><li>Genetics-test number of CGC rpeats in FMR1 gene</li><li>Can also be used to detect carriers</li></ul>

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8
Q

How is Fragile X syndrome treated?

A

<ol><li>Behavioural therapy-&gt;manage social anxiety and ASD features</li><li>SALT for communication</li><li>Educational support</li><li>Medical management for physical complications</li></ol>

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9
Q

Name some differential diagnoses for Kawasaki disease?

A

<ul><li>Scarlet fever-high fever, strawberry tongue and sandpaper red rash</li><li>Measles</li><li>Drug reactions</li><li>Juvenile rheumaotid arthritis</li><li>Toxic schock syndrome</li></ul>

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10
Q

<b>Kawasaki disease course:</b><br></br>Acute: {{c1::Child most unwell with fever, rash and lymphadenopathy}}<br></br><ul><li>Lasts: {{c1::1-2 weeks}}</li></ul><div>Subacute: {{c2::Acute symptoms settle, demasquation occurs and risk of coronary artery aneurysms forming}}</div><div><ul><li>Lasts: {{c2::2-4 weeks}}</li></ul><div>Convalescent stage: {{c3::Remaining symptoms settle, coronary artery aneurysms may regress}}</div></div><div><ul><li>Lasts: {{c3::2-4 weeks}}</li></ul></div>

A
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11
Q

How is measles transmitted?

A

<ul><li>Via droplets from nose, mouth or throat of infected patient</li></ul>

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12
Q

Describe the typical sequence of symptom onset in patients with measles

A

<ol><li>High fever &gt;40 degrees</li><li>Coryzal symtpoms</li><li>Conjunctivitis</li><li>Koplik spots</li><li>Rash</li></ol>

<br></br>

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13
Q

Name some differential diagnoses for measles

A

<ul><li>Rubella</li><li>Roseola</li><li>Scarlet fever</li></ul>

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14
Q

How can rubella be differentiated from measles?

A

<ul><li>Rubella often milder and begins on face then spreads</li></ul>

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15
Q

How long after exposure to measles do symptoms develop?

A

<ul><li>10-14 days post exposure</li></ul>

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16
Q

Name some complications of measles

A

<ul><li>Acute otitis media-most common complicaiton</li><li>Pneumonia: most common cause of death</li><li>Encephalitis: typically 1-2 weeks after onset</li></ul>

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17
Q

How is chicken pox spread?

A

<ul><li>Airborne-direct contact with rasj or breathign in particles form infected person's cough/sneeze</li><li>Can be caught from someone with shingles</li></ul>

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18
Q

How is chicken pox diagnosed?

A

<ul><li>Clinically</li></ul>

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19
Q

How is rubella transmitted?

A

<ul><li>Through respiratory droplets</li></ul>

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20
Q

How is rubella diagnosed?

A

<ul><li>Serology</li><li>rubella-specific IgM or rise in IgG in acute and convalescent serum samples</li></ul>

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21
Q

How is rubella treated?

A

<ul><li>Supportive: antipyretics and analgesia</li><li>Isolate individuals to prevent spread, escpecially amongst unvaccinated pregnant women</li></ul>

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22
Q

Name some complications of rubella

A

<ul><li>Arthritis</li><li>Thrombocytopenia</li><li>Encephalitis</li><li>Myocarditis</li></ul>

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23
Q

How does diptheria damag the body?

A

<ul><li>Diptheria toxin commonly causes a 'diptheric membrane' on tonsils cuased by necrotic mucosal cells</li><li>System distribution can produce necrosis of myocardial, neural and renal tissue</li></ul>

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24
Q

How might a patient with diphtheria present?

A

<ul><li>Recent visitor to Eastern europe/russia/asia</li><li>Sore throat with 'diphtheric membrane'</li><li>Bulky cervical lymohadenopathy</li><li>Neuritis</li><li>Heart block</li></ul>

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25
How is a patient diagnosed with diphtheria?
  • Culture of throat swab-Use tellurite or Loeffler's media
26
How is diphtheria managed?
  • Intramuscular penicillin
  • Diphtheria antitoxin
27
How can scalded skin syndrome be differentiated from toxic epidermal necrolysis(TEN)?
Scalded skin syndrome: oral mucosa usually unaffected
28
Name some differential diagnoses for scalded skin syndrome
  • Toxic Epidermal Necrolysis (TEN): manifests with widespread erythema and necrosis, leading to detachment of the epidermis. It involves mucous membranes, which differentiates it from SSSS
  • Pemphigus vulgaris: characterised by flaccid blisters and erosions on the skin and mucous membranes; Nikolsky sign is also positive
  • Bullous Impetigo: typically presents with localized bullae filled with pus, often with surrounding erythema and tenderness
29
How is scalded skin syndrome diagnosed?
  • Usually clinical
  • Biopsy can help deifferentiate from TEN
  • Cultures: presence of S aureus
30
How is scalded skin syndrome treated?
  1. IV antibiotics: flucloxacillin-inhibits toxin synthesis
  2. Supprtoive: fluid replacement and pain management
  3. Wound care to prevent secondary infections
31
How does flucloxacillin treat scalded skin syndrome?
  • Prevents toxin synthesis
32
How do patients with whooping ocugh present?
  • Apasmodi coughing with a prolonged duration per episode
  • Inspiratory whooping sound
  • Rhinorrhoea
  • Post-tussive vomiting
  • Apnoeas, especially in infants
33
Name some consequences of persistent coughing in patient with whooping cough
  • May develop subconjunctival haemorrhages or anoxia leading to syncope or seizures
34
How do infants with whooping cough often present?
Apnoeas
35
How is whooping cough managed?
  • Oral macrolide: clarithromycin, azithromycin etc if cough onset within 21 days
  • Notify public health
  • Antibiotic prophylaxis to household contacts
36
How do macroldies help patients with whooping cough?
  • Don't alter disease course, byt may alleviate symptoms and minimise transmission
37
Name 4 enteroviruses
  • Coxsackie A
  • Coxsackie B
  • Poliovirus
  • Echorviruses
38
How do enteroviruses spread?
  • Faeco-oral or droplet transmission
39
How do patients with polio present?
  • Most commonly asymptomatic
  • Minor: flu-like, pain, fever fatigure, headache, vomiting
  • Major: Acute flaccid paralysis-> bulbar paralysis
40
How is polio diagnosed?
  • Clinical
  • Lab: stool, throat swab, CSF analysis
41
How is polio managed?
  • No cure
  • Supportive: pain relief, ventilation if breathing difficulties etc
  • Physio: in cases of paralytic polio
  • Preventativbe: vaccination
42
Name some complications of polio
  • Paralysis, disability and deformities
  • Respiratory issues: from bulbar polio
  • Post-polio syndrome: years after initial infection-> muscle weakness, fatigue and pain in previously affected muscles
43
Name osme viral causes of meningitis
  • Enteroviruses
  • HSV
  • HIV
44
Describe the typical presentation of a child with fifth disease
  • Prodrome of mild fever, coryza, diarrhoea
  • Characteristic bright red rash on cheeks after a few days-can spread to rest of body but rarely involved palms and soles-peaks after a week then fades
45
How is fifth's disease spread
Via respiratory route
46
name some differentials for fifths disease
  • Rubella: presents with a similar rash, but also includes lymphadenopathy and conjunctivitis
  • Scarlet fever: presents with a similar rash, but also includes a sore throat and a 'strawberry' tongue
  • Roseola: presents with a high fever followed by a rash, but the rash is typically non-pruritic and pink in colour
47
How is fifth's disease diagnosed?
  • Usually clinical
  • Atypical: serological testing for Parvovirus B19
  • FBC: low reticuloycte
48
How is pneumonia manged?
  • At home: analgesia, rest, fluids etc
  • Hospital: IV fluids and oxygen and antibiotics
49
How is pneumonia in neonates managed?
  • IV fluids
  • Oxygen
  • Broad spectrum antibiotics
50
How is pneumonia in infants managed?
  • IV fluids
  • Oxygen
  • Amoxcicillin/co-amoxiclav if severe
51
How is pneumonia in children aged >5 years managed?
  • IV fluids
  • Oxygen
  • Amoxicillin/erythromycin
52
Name a complication of pneumonia in children
  • Parapenumonic collapse and empyema
53
How do patients with asthma typically present?
  • Episodic wheeze that is persistent most days and night
  • Dry cough
  • SOB
  • Symptoms worse at night and early morning
  • Symptoms have trriggers: exercise, pets, dust, cold air, laughing
  • Interval symptoms
54
How would you describe a wheeze to a parent?
  • Whistling in chest when your child breathes out
55
Name some respiratory failure red flags
  • Drowsiness
  • Cyanosis
  • Laboured breathing
  • Lethargy
  • Tachycardia
  • Use of accessory muscles 
56
Name some important features to assessing a child presenting with a wheeze
  • Fever
  • Weight loss
  • Apnoea
  • LOC
  • CYanosis
  • O2
  • Hepatomegaly
  • Breathing: too breathless to feed, hyperinflation/recession, use of accessory muscles, nasal falring, auscultation/percussion
  • Heart rate >160bpm
  • Murmur?
57
Name some causes of a wheeze in children
  • Asthma
  • Bronchiolitis
  • Penumonia
  • Transient early wheezing
  • Non atopic wheezing
  • Cardiac failure
  • Inhaled foreign body
  • Aspiration of feeds
  • Cystic fibrosis
  • Congenital abnormality of lung, airway and heart
58
How is moderate acute asthma treated?
  • SABA via spacer, 2-4 puffs
  • Consider oral prednisolone
  • Reassure
59
How long do symptoms of croup typically last?
  • 48 hours to 1 week
60
Name some complications of croup
  • Airway obstruction-> trachea intubation
  • Otitis media
  • Dehydration form decreased fluid intake
  • Superinfection resulting in pneumonia
61
How might a patient with bacterial tracheitis present?
  • High fever
  • Toxic
  • Rapidly progressing into airway obstruction and thick airway secretions
62
How common is bronchiolitis?
  • Most common serious respiratory infection of infancy
63
Name some causes of bronchiolitis and which is the most common?
  • RSV-80% of cases
  • Parainfluenza. rhinovirus, adenovirus, mycoplasma pneumoniae
64
Name some risk factors for bronchiolitis
  • Breastfeeding for <2 months
  • Older siblings at nursery/school
  • Smoke exposure
  • Chronic lung disease of prematurity
65
How is bronchiolitis diagnosed?
  • Most clinical
  • Nasopharyngeal aspirate for RSV culture
  • CXR
  • If severe: blood gas analysis, continurous O2 monitoring
66
Name a risk factor for developing bronchiolitis obliterans
  • Lung transplant recipients
67
If both parents carry the gene for cystic fibrosis, what are the chances the child will have CF?
36895
68
If both parents carry the gene for cystic fibrosis, what are the chances the child will be a carrier?
36893
69
If both parents carry the gene for cystic fibrosis, what are the chances the child won't have CF or be a carrier?
36895
70
If 1/25 people in UK have CF mutation, what are the cahnces of having a child with CF?
1/2500
  • 1/25 x 1/25 x 1/4
71
How do neonates with cystic fibrosis typically present?
  • Meconium ileus due to viscous meconium
  • Failure to thrive
72
How do infants and toddlers with CF typically present?
  • Salty sweat
  • Faltering growth
  • Chest infection
  • Malabsorption
73
How do older children with CF present?
  • Delayed onset of puberty
  • Chest infections
  • Malabsorption
74
How is CF diagnosed?
  • Screening: neonatal blood spot test: high immunoreactive trypsinogen
  • Sweat test: high chloride
  • Genetic testing
75
How is CF managed?
  • Daily chest physio to clear mucus and prevent pneumonia
  • Prophylactic antibiotics, bronchodilators and meds to thin secretions 
  • Regular immunisations-> influenza, penumococcla vaccines
  • Pancreatic enzyme replacement(Creon) and fat soluble vitamin supplementation (ADEK)
  • Bilateral lung transplant in end stage pulmonary disease
76
Name some complications of cystic fibrosis
  • Malabsorption and diabetes due to decreased pancreatic enzyme function
  • Liver failure
  • Chest infections-> pneumothoraz and life threatening haemoptysis
77
How does CF cause liver failure?
  • Mucus blocks bile ducts-> bile can't leave liver
78
How common is acute epiglottitis?
  • Rare now due to HiB vaccine
79
How do patients with acute epiglottitis present?
  • Rapid onset and increase in respiratory difficulties
  • High fever, generally very unwell/toxic
  • Minimal.absent cough
  • Soft inspiratory stridor
  • Intesne throat pain
  • DROOLING
  • TRIPOD POSITION-> leant forward, extending neck, open mouth
80
Name some differentials for acute epiglottitis
  • Croup
  • Peritonsillar abscess
  • Bacterial tracheitis

81
How do patients with a viral induced wheeze present?
  • Viral illness for 1-2 days preceding onset
  • SOB
  • Signs of respiraotry distress
  • Expiratory wheeze throughout the chest
82
How is multiple trigger wheeze treated?
  • Trial ICS/LTRA for 4-8 weeks
83
How do patients with otitis media typically present?
  • Otalgia(ear pain)
  • Fever
  • Hearing loss
  • Recent URTI symptoms
  • Discharge
84
Name some differential diagnoses for otitis media?
  • URTI
  • Mastoiditis
  • Otitis externa
  • Foreign body
85
How is otitis media managed?
  • Self-resolving: usually no antibiotics needed, simple analgesia
  • If no improvement after 3 days: can start antibiotics
  • In severe cases admit to hospital and antibiotics
86
Name some complications of otitis media
  • Chronic OM
  • Tympanic membrane perforation
  • Meningitis
  • Mastoidits
  • Facial nerve palsy
  • Labyrinthitis
87
How can otitis media be prevented?
  • Avoid passive smoking
  • Avoid flat/supine feeding

88
How do patients with glue ear typically present?
  • Hearing loss in affected ear
89
How is glue ear diagnosed?
  • Otoscopy-> dull tympanic membrane with air bubbles or visible fluid level(can look normal), retracted eardrum
90
Name some of the risk factors for periorbital cellulitis
  • Male
  • Previous sinus infection
  • Recent eyelid injury
91
How do patients with periorbital cellulitis present?
  • Acute onset of red, swollen, painful eye, fever
  • Eryhtema and oedema of eyelids-> can spread to surrounding skin
  • Partial.complete ptosis of eye due to swelling
  • Orbital signs ABSENT(no pain/restriction on movement, proptosis, chemosis etc)
92
Name some differentials for periorbital cellulitis
  • Orbital cellulitis
  • Allergic reactions
93
How is periorbital cellulitis managed?
  • Referral to secondary care assessment
  • Oral antibiotics usually enough-> empirical co-amoxiclav/cefotaxime
  • May require admission for observation
94
Name some causes of a squint
  • Idiopathic-most common
  • Hydrocephalus
  • Cerebral palsy
  • Space occupying lesion(retinoblastoma)
  • Trauma
95
Name some differential diagnoses for impetigo?
  • Eczema herpeticum
  • HSV infection
  • Contact dermatitis
  • Ringworm
96
How is impetigo diagnosed?
  • Usually clinically
  • Skin swab for mc+s in certain cases like recurrent infections or treatment resistant cases
97
Name some complications of impetigo
  • Sepsis
  • Glomerulonephritis
  • Deeper soft tissue infection-cellulitis
  • Scarring
  • Post strep glomerulonephritis
  • Scarlet fever
  • Staphyloccocus scalded skin syndrome
98
Name some differentials for toxic shock syndrome
  • Meningococcal scepticaemia
  • Stevens-Johnson syndrome
  • Kawasaki disease
99
How is suspected toxic shock syndrome investigated?
  • Sepsis 6
  • Throat/wound swabs
100
How is scarlet fever spread?
  • Via respiratory route-> inhaling or ingesting droplets or direct contact with nose and throat discharge
101
How is scarlet fever diagnosed?
  • Throat swab
  • DONT wait for results to start anitbiotic treatment
102
Describe the treament of scarlet fever
  • Oral phenoxymethylpenicillin for 10 days
  • Azithromycin for penicillin allergy
  • notifiable disease-report to public health
  • Keep off school
103
How long do patients with scarlet fever need to stay off school?
  • Until 24 hours after commencing antibiotics
104
Name some complications of scarlet fever
  • Rheumatic fever
  • Post strep glomerulonephritis
  • Otitis media-most common
  • Invasive complications-meningitis, bactaraemia etc
105
How does the ductus venosus close?
Immediately after birth-> umbilical cord clamped and no blood flow-> closes and becomes ligamentim venosum
106
How does the ductus arteriosus close?
  • Prostalgandins usually keep it open
  • Increased blood oxygenation-> drop in circulating prostaglandins->closes
  • Becomes ligamentum arteriosum
107
How does the foramen ovale close?
  • First breath->alveoli expand-> decrease pulmonary resistance in right atrium
  • Left atrial pressure>right atrial pressure-> squashes septum and closes
  • Sealed shut after a few weeks-> fossa ovalis
108
Name some differentials for an ejection-systolic murmur
  • Aortic stenosis
  • Pulmonary stenosis
  • Hypertrophic obstructive cardiomyopathy
109
Name some causes/risk factors for a patent ductus arteriosus(PDA)
  • Genetics/related to rubella
  • Prematurity
110
How might a patent ductus arterious present in a newborn?
  • Incidentally in neworn exam with murmur
  • SOB
  • Difficulty feeding
  • Poor weight gain
  • Lower respiratory tract infections
111
In patients with a PDA that don;t present in childhood, how might they present in adulthood?
  • With heart failure later in life
112
How is a PDA diagnosed?
  • Echo
  • Left to right shunt
  • Hypertrophy of right, left or both ventricles
113
How are patients with PDA;s managed?
  • Usualy close by themselves, no treatment if no symptoms
  • Medical: NSAIDs
  • Monitored with echos until 1 year
  • Symptomatic or severe or after 1 year if hasn't closed spontaneously-> trans-catheter or surgical closure
114
How do NSAIDS work to treat PDA's?
Inhibit prostaglandin synthesis (helps maintain ductal patency)
115
How might a patient with an atrial septal defect present?
Childhood:
  • SOB
  • Difficulty feeding
  • Poor weight gain
  • Lower respiratory tract infections
  • Asymptomatic-> antenatal scans
Adulthood:
  • Dsypnoea
  • Heart failure
  • Stroke
116
How are atrial septal defects managed
  • Small: watch and wait
  • Surgery: transvenous catheter closure or open heart surgery
  • Medical: anticoagulatns like aspiring, warfirin and NOACs
117
How are patients with critical coarctation of the aorta managed at birth?
  • Prostaglandin E used to keep ductus arteriosus open while waiting for surgery
  • Surgery to correct coarctation and ligate ductus arteriosus
118
How are VSDs diagnosed?
  • Typically through antenatal scans or newborn baby check
  • Can be asymptomatic and present later in life 
119
How are VSD's managed?
  • Small and asx: watch and wait, may close spontaneously
  • Surgically: transvenous catheter closure via femoral vein or open heart surgery
120
How does the VSD contribute to the tetralogy of fallot?
  • Blood can flow between ventricles
121
How does the overriding aorta contribute to tetralogy of fallot?
  • When right ventricle contracts, aorta is in direction of travel of that blood, greated proportion of deoxygentated blood enters aorta
122
How does stenosis of the pulmonary valve contribute to tetralogy of fallot?
  • Greater resistance against flow of blood form right ventricle
  • Blood flows through VSD and into aorta instead of pulmonary vessels
  • Due ot overriding aorta and pulmoanry stenossi-> blood is shunted from right to left-> cyanosis
123
How can positional changes improve circulation in tet spells?
  • Older children: squat
  • Younger children: Bring knees to chest
  • Increases systemic vascular resistance so encourages blood to enter pulmonary vessels
124
How is tetralogy of fallot managed in neonates?
  • Prostaglandin infusion to maintain ductus arteriosus: allows blood to flow from aorta back to pulmonary arteries
  • Total surgical repair-mortality around 5%
125
How does sodium bicarbonate help treat a tet spell?
  • Buffers any metbaolic acidosis
126
Describe the symptoms of transposition of the great arteries
  • Cyanosis at/shortly after birth
  • Tachypnoea
  • Poor feeding/weight gain
127
How is transposition of the great arteries diagnosed?
  • Fetal US-most are picked up antenatally
  • Echo
  • CXR-egg on side
128
Describe the treatment of transposition of the great arteries
  • Prostaglandin E infusion-maintain ductus arteriosus
  • Balloon septostomy
  • Definitive: open heart surgery using bypass-arterial switch
129
How is Ebstein's anomaly treated?
  • Treat arrhythmias and heart failure
  • Prophylactic antibiotics to prevent infective endocarditis
  • Surgical correction: definitive
130
How is congenital aortic valve stenosis diagnosed and monitored?
  • Echo: GS
  • Monitoring: echo, ECG, exercise testing
131
Desrcibe the treatment for congenital aortic valve stenosis
  • Percutaneous balloon aortic valvoplasty
  • Surgical aortic valvotomy
  • Valve replacement
132
Name some complications that can aride from congenital aortic valve stenosis
  • Left ventricular outflow tract obstruction
  • Heart failure
  • Ventricular arrhythmia
  • Bacterial endocarditis
  • Sudden death-on exertion
133
How is congenital pulmonary valve stenosis diagnosed?
  • Echo
134
Name some possible causes of nocturnal enuresis
  • Daibetes-> excessive urination
  • UTI's-> urgency/frequency
  • Constipation-> compressess bladder
135
How can haemolytic uraemic syndrome be classified?
  1. Secondary/typical
  2. Primary/atypical
136
Name a differential diagnosis for haemolytic uraemic syndrome and explain how they can be dfferentiated?
  • Thrombotic thrombocytopenic purpura(TTP)
  • TTP will include symptoms of fever and neurological changes
137
How is typical haemolytic anaemia managed?
  • Supportive-> fluids, blood transfusions and dialysis if needed
  • NO antibiotics
138
How is atypical haemolytic uraemic syndrome managed?
  • Referral to specialist
  • Treatment with eculizumab(monoclonal antibody)
  • Plasma exchange may be used in severe cases with no diarrhoea
  • NO antibiotics
139
How does eculizumab treat haemolytic uraemic syndrome?
Monoclonal antibody-> inhibits the terminal complement pathway
140
How should urine samples be collected in children with a suspected UTI?
  • Clean catch
  • Non contaminated collection pad/catheter sample/suprapubic aspiration
141
Name some complications of a UTI
  • Renal scarring and CKD
  • Sepsis
142
How does vesicoureteric reflux result in recurrent UTI's?
  • Backwards flow carries bacteria up to the kidneys
143
Give 3 causes of a vesicoureteric reflux
  • Shortened intravesical ureter
  • Impoperly functioning valve where ureter joins bladder
  • Neurological disorder affecting the bladder
144
Name some complicaiton of vesicoureteric reflux
  • Recurrent UTI's
  • Pyelonephritis
  • Renal scarring and UTI's
  • Hypertension
145
Grading of vesicoureteric reflux
Grade 1: {{c1::Incomplete filling of upper urinary tract without dilatation}}
Grade 2: {{c2::Complete filling +/- slight dilatation}}
Grade 3: {{c3::Ballooned calyces}}
Grade 4: {{c4::Megaureter}}
Grade 5: +{{c5::hydronephrosis}}
146
Name some conditions Wilms' tumour is associated with
  • Beckwith-Wiedemann syndrome
  • WAGR syndrome(Wilms', aniridia, GU anomalies, mental retardation)
  • Denys-Drash syndrome: WT1 gene on CH 11
147
Name some differential diagnoses for a Wilms' tumour
  • Neuroblastoma
  • Mesoblastic nephroma
  • Renal cell carcinoma-> rare in children
148
Name one poor prognostic factor in a patients with Wilms' tumour
  • Associations with other genetic conditions
149
Name some risk factors for cryptorchidism
  • Family history
  • Small for gestational age
  • Prematurity
  • Low brith weight
  • Maternal smoking in pregnancy
150
Name some conditions associated with cryptorchidism
  • Cerebral palsy
  • Wilms' tumour
  • Abdominal wall defects
151
How is cryptorchidism diagnosed?
  • Cinical-physical exam in a supine position
152
How might a patient with cryptorchidism present?
  • Malpositioned/absent testes/testis
  • Palpable cryptorchid testis(unable to be pulled into scrotum/returns to higher position after pulling)
  • Non-palpable testis
  • Testicular asymmetry/scrotal hyperplasia
153
Name some differential diagnoses for cryptorchidism
  • Rretractile testis
  • Intersex conditions
154
How would a teenager presenting with cryptorchidism be managed?
  • Orchidectomy
  • Due to a higher risk of malignancy-Sertoli cells degrade after 2 years
155
Name some complications of hypospadias
  • Difficulty directing urination
  • Cosmetic and psychological reasons
  • Sexual dysfunction
156
Name some complications of phimosis/paraphimosis
  • Recurrent balanoposthitis/UTI's
  • Venous congestion, oedema and ischaemia of glans penis
157
Name some primary causes of nephrotic syndrome
  1. Minimal change disease
  2. Focal segmental glomerulonephropathy
  3. Membranous nephropathy
158
How does nephrotic syndrome result in an increased risk of thrombosis?
  • Decreased antithrombin 3, proteins c+s and increase in fibrinogen
159
How doe nephrotic syndrome result in lower thyroxine?
  • Decreased thyroxine binding globulin-> lowers total(not free) thyroxine
160
Name some complications of nephrotic syndrome
  • Hypovolaemia->oedema and hypotension
  • Thrombosis-> kiedney leak clotting factors
  • Infection-> kidenys leak Ig's and steroid use
  • Acute/renal failure
161
Name 2 drugs that can cause minimal change disease
  • NSAIDs
  • Rifampicin
162
Name some causes of nephritic syndrome
  • AI: SLE oe Henoch Schonlein purpura
  • Infections: post strep
  • Goodpasture's disease
  • IgA nephropathy(Berger's)
  • Rapidly progressing glomerulonephrotos
  • Membranoproliferative glomerulonpehritis
163
Describe the typical presentation of a patient with IgA nephropathy
  • Gross/microscopic haematuria occuring 12-72  hours after an URTI or GI infection
  • Mild proteinuria
  • Hypertension

164
Name some differential diagnoses for IgA nephropathy
Post strep glomerulonephritis(weeks post infection not days, IgA deposition)
Henoch Schonlein purpura-> same excpet systemic IgA complex deposition instead of just kidneys
165
Name some markers of good prognosis and poorer prognosis of patient with IgA nephropathy
Good: frank haematuria
Poor: male, proteinuria, hypertension, smoking, hyperlipidaemia
166
Name some differential diagnoses for post strep glomerulonephritis
  • IgA nephropathy
167
Name a complication of post strep glomerulonephritis
  • CKD
  • Rapidly progressing glomerulonephritis
168
Goodpastures disease: symptoms, cause,and treatment
Symptoms: pulmonary and alveoli haemorrhage
Cause: Anti-GBM antibody deposition
Treatment: Steroids and plasma exchange
169
Name some causes of rapidly progressinve glomerulonephritis
  • Goodpasture's
  • IgA nephropathy
  • Henoch Schonlein Purpura
  • Lupus nephritis
  • Wegener's granulomatosis
170
Describe the treatment of rapidly progressive GN
  • Corticosteroids and cyclophosphamide-> induce remission
  • Plasmapharesis-> anti GBM disease and severe ANCA associated vasculitis
  • Supportive: BP control, diet changes, manage fluid overload/electrolyte imbalances
  • Renal replacement therapy may be required
171
How can hypogonadism be classified?
  • Primary: testicular failure
  • Secondary: hypothalamci or pituitary disorders
172
Give some examples of primary hypogonadism
  • Klinefelter syndrome
  • Orchitis
  • Testicular trauma/torsion
  • Chemo/radioation
173
Give some examples of secondary hypogonadism
  • Kallmannm syndrome
  • Pituitary adenomas
  • Hyperprolactinoma
  • Anorexia
  • Opioid use
  • Glucocorticoid use
  • HIV/AIDS
  • Haemochromatosis
174
Name some differential diagnoses for hypogonadism
  • Depression
  • Thryoid disorders
  • CFS
175
How might hormone levels seem different in those with Klinefelter syndrome?
  • Elevated gonadotrophin levels(FSH, LH etc)
  • Low testosterone
176
How is Klinefelter diagnosed?
  • Karyotyping-chromosomal analysis
  • Hormones will also show high gonadotrophin levels and low testosterone
177
Describe the treatment of Klinefelter syndrome
  • Testosterone injections-improve many symptoms
  • Advanced IVF techniques-> fertility options
  • Breast reduction for cosemsis
  • MDT input: SALT, OT, physio, educational support
178
How is Turner's syndrome diagnosed?
  • Pre-natally: amniocentesis or chorionic villus sampling(CVS)
  • Definitive: karyotyping after birth
179
Give some features of Down's syndrome that aren't on the face
  • Hypotonia
  • Pronounced sandal gap
  • Learning difficulties
  • Short stature
  • Congenital heart defects
  • duodenal atresia
  • Hirschsprung's disease
180
Name some cardiac complications of Down's sydnrome
  • Endocardial cushion defect
  • VSD(30%)
  • Secundum atrial septul defect
  • Tetralogy of fallot
  • Isolated PDA
181
Name some later complications of Down's syndrome
  • Subfertility
  • Learning difficultires
  • ALL
  • Alzheimer's
  • Repeated respiratory infections
  • Antlantoaxial instability-avoid trampolines
  • Hypothyroidism
  • Visual problems: myopia, strabismus, cataracts
182
How can Down's syndrome be diagnosed?
  • Antenatal screening: between 10-14 weeks
  • Combined test: 10-14 weeks: US and maternal bloods
  • Triple test: 14-20 weeks: maternal blood tests
  • Quadruple test: 14-20 weeks
183
Give some examples of muscular dystrophies
  • Duchenne muscular dystrophy
  • Beckers muscular dystrophy
  • Myotonic musclar dystrophy
184
If a mother is a carrier for Duchenne muscular dystrophy and has a child, what it the likelihood that the child will be a carrier or have the condition?
If female: 50% chance of being a carrier
If male: 50% chance of haviing condiiton
185
How is Duchenne muscular dystrophy managed?
  • Mostly supportive
  • Oral steroids can slow the progression of muscle weakness
  • Creatine supplementation can slightly improve muscle stength
186
How is Becker's muscular dystrophy different to duchenne muscular dystrophy?
  • Dystrophiin gene less severely affected and maintains some function, symptoms appear later(8-12 years), some patients need wheelchairs in late 20s/30s, others can walk into adulthood
187
How is William's syndrome diagnosed?
  • FISH studies(fluorescence in situ hybridization)
188
Desrcibe the epidemiology of rickets
  • More common in regions of asia and africa
  • Asia: lack of sunlight and low vegetable and meat diets
  • Africa: darker skin pigmentatino and reduced vitamin D synthesis
189
Name some predisposing features to rickets
  • Dietary deficiency of calcium, e.g. in developing countries
  • Prolonged breastfeeding
  • Unsupplemented cow's milk formula
  • Lack of sunlight
190
Name some differential diagnoses for transient synovitis
  • Septic arthritis
  • Ostemyelitis
191
How is transient synovitis diagnosed?
  • Often clinical diagnosis
  • Normal basic observations
  • Normal blood tests with no raised WCC or inflammatory markers
  • USS: may show effusion, X-ray normal
  • Joint aspirate: if done should be no bacteria present
192
How cam mosteomyelitis be classified?
  • Haematogenous spread: commonly occurs in children, spreads from elsewhere(bactaraemia)
  • Non-haematogneous spread: spreads from adjacent soft tissues/from firect injury/trauma to bone
193
Name some risk factors for haematogenous osteomyelitis
  • Sickle cell anaemia
  • IVDU
  • Immunosuppresion
  • Infective endocarditis
194
Name some differentials for osteomyelitis
  • Septic arthritis
  • Ewing sarcoma
  • Cellulitis
  • Gout
195
Name some risk factors for developing septic arthritis?
  • Pre-existing joint diseases like rheumatoid arthritis
  • CKD
  • Immunosuppresive states
  • Prosthetic joints
196
Name some complications of septic arthritis
  • Osteomyelitis
  • Chronic arthritis
  • Ankylosis
197
Name some differential diagnoses fro Perthes' disease
  • Transient synovitis
  • Septic arthritis
  • SUFE
  • JIA
198
Name 2 complications of Perthes' disease
  • Osteoarthritis
  • Premature fusion of the growth plates
199
How does the femoral head get displaced in Slipped Upper Femoral Epiphysis
  • Displaced posterio-inferiorly

200
Name some differentials for the diagnosis of slipped upper femoral epiphysis
  • Osteoarthritis
  • Hip fracture
  • Specit arthritis
201
How is slipped upper femoral epiphysis diagnosed?
  • AP and lateral(typically frog leg) views are diagnostic: shortened, displaced epiphysis and widened growth plate
  • Normal blood tests: exclude other causes of joint pain
  • Technetium bone scam CT, MRI
202
Name some complications of slipped upper femoral epiphysis
  • Osteoarthritis
  • Avascular necrosis of the femoral head
  • Chrondrolysis
  • Leg length discrepancy
203
How is osgood schlatter diagnosed?
  • Moslty clinical
  • Imaging may be used to rule out other conditions or if symptoms persist
204
How is osgood schlatter managed?
  • Pain control with analgesics and modification of physical activities
  • NSAIDs for short term relief
  • Physio; strengthening and stretching exercises for quadriceps or hamstring muscles
  • If severe: knee brace or cast
205
Name one complication of osgood schlatter
  • Complete avulsion fracture
  • Tibial tubersoity is separated frm the rest of the tibia-> requires surgical intervention
206
Name some risk factors for developing developmental dysplasia of the hip
5F's
  • Female(6 times mroe likely)
  • Firstborn
  • Family history
  • Frank breech presentation(buttocks or feet first in the womb)
  • Fluid(oligohydramnios)
207
How might infants with developmental dysplasia of the hip present?
  • Limited hip abduction, especially in flexion
  • Asymmetry of gluteal and thigh skinfolds
  • Apparent limb length discrepancy
208
How might older children with developmental dysplasia of the hip present?
  • Walking difficulties/limp
  • Delayed walking
  • Waddling gait in bilateral cases
209
How is developmental dysplasia of the hips diagnosed?
  • USS of hips
  • >4.5 months then x-ray
210
Name a complication of Still's disease
  • Macrophage activation syndrome(MAS)
  • Severe aactivation of the immune system with a massive inflammatory response
211
How might a patient with macrophage activation syndrome present?
  • Systemically unwell
  • DIC
  • Anaemia
  • Thrombocytopenia
  • Bleeding
  • Non-blanching rash
  • Life-threatening
212
Name some non-infective differentials for a child wiith a fever for >5 days
  • Still's disease
  • Kawasaki disease
  • Rheumatic fever
  • Leukaemia
213
How is enthesitis diagnosed?
  • MRI scan-cannot differentiate cause thoguh
214
Name some complications of juvenile idiopathic arthritis
  • Flexion fractures: PT and splinting
  • Joint destruction: may need prosthesis
  • Growth failure: chronic disease and steroid use
  • Anterior uveitis: visual impairment
215
How is torticollis diagnosed?
  • Clinically history and exam-distinguish mechanical vs neuropathic pain
216
Name some differential diagnoses for torticollis
  • Acute disc prolapse
  • Tonsillitis
  • Cervical lymphadenopathy
  • C spine injury
  • Neurological disorders leading to dystonia
217
Name some redf lag symoptoms in a patient with likely torticollis
  • Neurological symptoms/signs
  • Malaise, fever, weight loss, unremitting pain affecting sleep
  • Hx of violent trauma, neck surgery or risk factors for osteoporosis
218
Name some risk factors for adolescent idiopathic arthritis
  • Positive family history
  • Peak adolescent growth spurt
219
How is scoliosis diagnosed?
  • Clincal exam
  • Standing x-rays
  • MRI considered
220
How is discoid meniscus diagnosed?
  • MRI 
221
Name one risk factor for AML
  • Ionising radiation
222
Name some poor progmostic factors for AML
  • >60 years
  • >20% blasts after course of chemo
  • Cytogenetics: deletions of chromosome 5 or 7
223
How is AML diagnosed?
  • Bloods: leukocystosis
  • Blood film: blast cells
  • Bone marrow biopsy: Auer rods
224
How is AML treated?
  • Chemo and targeted therapy
  • Radiotherapy
  • Bone marrow transplant
  • Surgery
225
Name some complications of chemotherapy
  • Failure to treat caancer
  • Stunted growth and developmetn in children
  • Infections
  • Neurotoxicity
  • Infertility
  • Secondary malignancy
  • Cardiotoxicity
  • Tumour lysis syndrome
226
Name 3 non-blanching lesions and how to differentiate between them
  • Petechiae: <3mm-caused by burst capillaries
  • Purpura: 3-10mm
  • Ecchymosis: >10mm
227
Name some differentials for a non-blanching rash
  • Leukaemia
  • Meningococcal scepticaemia
  • Vasculitis
  • HSP
  • ITP
  • TTP
  • Traumatic or mechanical(e.g. severe vomiting)
  • Non-accidental injury
228
How can CML present?
  • Systemic: weight looss, tiredness, fever, night sweats
  • Splenomegaly
  • Bleeding
  • Gout
  • Hyperleukocytosis: visual disturbance, confusion, priapism, deafness
229
How is CML diagnosed?
  • Bloods: leukocytosis (particularly raised myeloid cells), anaemia
  • Bone marrow testing
  • Geneitcs: Philadelphia chromosome
230
How is ALL diagnosed?
  • Leukocytosis on FBC
  • Blood film and bone marrow: blast cells
  • Immunophenotyping: differentiate if origin is B or T cell
231
Name some poor prognostic factors for ALL
  • Age <1yr or >10 years
  • WCC: >20*10^9
  • CNS disease
  • Non-caucasian
  • Male
232
How is CLL diagnosed?
  • Blood: lymphocytosis, aanaemia, thrombocytopenia
  • Blood film: Smudge cells(ruptured WBC's)
  • Immunophenotyping: CD5,19,20,23
233
Name some complications of CLL
  • Richter's transformation
  • Anaemia
  • Hypogamaglobulinaemia-> recurrent infections
  • Warm AI heamolytic anaemia
234
Give aan example of a genetic condition that can predispose a chidl to brain tumours
  • Neurofibromatosis
235
Name some differential diagnoses for a paediatric brain tumour
  • Migraine
  • Intracranial hypertension
  • Epilepsy
  • Meningitis
236
How is a medulloblastoma treated?
  • Surgical resection and chemo
237
Name some differential diagnoses for pyloric stenosis
  • Gastroenteritis
  • GERD
  • Infantile colic
238
Name a differential diagnosis for mesenteric adenitis
  • Appendicitis
-Higher grade fever
-Loss of appetite
-Nausea and vomiting
-Elevated WCC
-Focal pain in RLQ
239
How is mesenteric adenitis managed?
  • Usually self limiting-observation and reassurance
  • Careful safety netting
  • Surgical: not usually advised, amy be needed if appendicitis can't definitively be ruled out
240
Name some differential diangoses for an intussusception
  • Gastroenteritis
  • Appendicitis
  • Volvulus
  • Meckel's diverticulum
241
How is intussusception diagnosed?
  • Abdominal USS: 'target sign'
  • Can reveal complications 
242
How does intestinal malrotation present?
  • Bilious vomiting, often on the first day of life(with volvulus)
243
Name some differentials for a patient wtih intestinal malrotation
  • GERD
  • Pyloric stenosis
  • Duodenal atresia
  • Intestinal obstruction
244
How is malrotation diagnosed?
  • Upper GI contrast study-reveals obstruction point as no contrast will be able to pass
  • USS
  • Proximal bowel: corckscrew appearance
245
How is intestinal malrotation managed?
  • Laparotomy
  • If volvulus present: Ladd's procedure(includes division of Ladd bands and widening of base of mesentery
  • Relieve obstruction and correct congenital abnormality
246
Name some risk factors for GORD
  • Preterm delivery
  • Neurological disorders
247
Name some red flag symptoms in a child with suspected GORD
  • Not keeping down feed(pylroic stenosis/obstruciton)
  • Projectile vomiting
  • Haematemesis
  • Abdominal sdistention
  • Reduced consciousness, bulging fontanelle or neuro signs
  • Signs of infection
  • Rash, angioedema, allergic signs
  • Respiratory symptoms including apneoas
248
Name some complications for GORD
  • Distress
  • Failure to thrive
  • Aspiraiton
  • Frequent otitis media
  • Older children: dental erosion
249
If severe complicaiotns and medical treatment is ineffective, what might be considered for a patient with GORD?
  • Fundoplication
250
Describe what might be found on examination of a patient with appendicitis
  • Systemic: pyrexia and tachycardia
  • Localised tenderness and guarding in RIF
  • Tenderness over McBurney's point(1/3 frmo ASIS to umbilicus)
  • Rovsing's sign: RIF pain with palpation of left iliac fossa

Also psoas or obturator sign
251
Name some complications of appendicitis
  • Local abscess formation
  • Perforation
  • Gangrene
  • Postoperative wound infection
  • Peritonitis
252
How does appendicitis often present in patients under 4 years olf
  • More likely to be atypical and present with perforation
253
Name some complications of biliary atresia?
  • Unsuccessful anastamosis
  • Progressive liver diease
  • Cirrhosis with HCC
254
Name some differentials for a febrile convulsion
  • Meningitis
  • Encephalitis
  • Electrolyte imbalances causin seizures
  • Epilepsy
255
How are febrile convulsions managed?
  • If first seizure: admit 
  • Source of fever identified and treated if necessary
  • Parental educations: appropriate use of antipyretics, don't ponge child to cool down
  • Phone ambulance in future if seizure lasts >5 mintues
  • If recurrent: benzos may be cnsidered-only on advice of specialist(rectal diazepam or buccal midazolam
256
Name some causes of encopresis
  • Spina bifida
  • Hirschprung's
  • Cerebral palsy
  • Learning disability
257
How might children with constipation present?
  • <3 stools/week
  • Hard stool that are difficult to pass
  • Rabbit dropping stools
  • Abdominal pain
  • Straining resulting in rectal bleeding
  • Overflow diarrhoea
258
Name some red flags for constipation in children
  • Not passing meconium within 48hrs of brith(CF/hisrschprung's)
  • Neuro signs
  • Ribbon stool
  • Vomiting
  • Abnormal anus/lower back/buttocks
  • FTT
  • Acute severe abdo pain and bloating
259
Name some complicaitons of constipation in children
  • Pain
  • Decreased sensation
  • Anal fissures
  • Haemorrhoids
  • Overflow soiling
  • Psychosocial morbidity
260
Name some risk factors for developing cerebral palsy
  • Preterm birth
  • Low birth weight
  • Multiple birth
  • Congenital malformations
261
Name some causes of cerebral palsy
Antenatal:
  • cerebral malformation
  • congenital infection(rubells, toxoplamsosis, CMV), 
  • maternal alcohol/smoking use
  • Maternal thrombotic disorders(factor 5 leiden)
Intrapartum:
  • Birth asphyxia
  • Trauma
Postnatal:
  • Intraventricular haemorrhage
  • Meningitis
  • Head trauma
  • Hypoglycaemia
  • Neonatal sepsis and encephalopathy
262
Name some general symptoms of cerebral palsy
  • Wide variety-delays in reaching developmental milestones, altered tone and weakness
  • Hand dominance before 18 months
  • Feeding diffuclties
  • Abdnormal gait
263
Name some associated non-motor symptoms of cerebral palsy
  • Learning difficulties
  • Epilepsy
  • Squints
  • Hearing impairment
  • GORD
264
Name some differentials for cerebral palsy
  • Muscular dystrophies
  • Metabolic disorders
  • Hereditary spastic paraplegia
  • JIA
265
Name some complications of cerebral palsy
  • Recurrent chest infections->aspiration pneumonias from feeding difficulties
  • Chornic constipation/incontinence
  • Visual/hearing impairment
  • Epilepsy
  • Behavioural and emotional difficulties
  • Contractions
  • GERD
266
Name some differentials for haemolytic disease of the newborn
  • Spherocytosis
  • G6PD deficiency
  • Thalassaemia
267
Howw is haemolytic disease of the newborn managed?
  • Intrauterine transfusions if severe anaemia detected in fetus
  • Early delivery if severe
  • Postnatal: phototherapy, exchange transfusion to manage high bilirubin
  • Immunoglobulin administration to newborn to prevent further haemolysis
  • Regular follow up to assess for developmetnal issues
268
Name some complications of haemolytic disease of the newborn
Unborn:
  • Fetal heart failure
  • Fetal hydrops: fluid retention and swelling
  • Stillbirth
Newborn:
  • Kernicterus-> hearing loss, blindness, vision loss, brain damage, learning difficulties, death
269
Name a complication of a cephalohaematoma
  • Jaundice
270
How should chest compressions be carried out in children?
  • 100-120/min for children and infants
  • Depth: at least 1/3 depth of chest(4cm infant, 5cm for child)
  • Children: lower half of sternum
  • Infants: 2 thumb encircling technique/2 fingers from one hand
271
Name some causes of acute respiratory distress syndrome
  • Infection: sepsis, pneumonia
  • Major trauma
  • Aspiration
  • Pancreatitis
  • Fat embolism
  • Drowning
  • Burns
  • DIC
  • Transfusion reactions
272
Name some differentials for acute respiratory distress syndrome
  • Cardiogenic pulmonary oedema
  • Covid
  • Bilateral penumonia
  • Diffuse alveolar haemorrhage
273
How is acute respiratory distress syndrome diagnosed/investigated?
  • CXR: bilateral alveolar infiltrates without other features of heart failure
  • Arterial blood gases: severity of hypoxaemia
Others;
  • Resp viral swab
  • Sputum, blood and urine cultures
  • Serum amylase: screen for pancreatitis
  • CT cehst
274
Name some differentials for neonatal respiratory distress syndrome
  • Transient tachypnoea of the newborn
  • Meconium aspiraiton syndrome
  • Pneumonia
275
How is neonatal respiratory distress syndrome diagnosed/investigated?
  • Usually clinical
  • CXR: 'ground glass appearance'
  • Blood gas: hypoxaemia and hypercapnia
276
How can the risk of neonatal respiratory distress syndrome be reduced in premature infants?
  • Administer glucocorticoids to mother before delivery to enhance surfactant production in the infant
277
Name some complications of neonatal respiratory distress syndrome
  • R->L shunt through collapsed lung or ductus arteriosus
  • Ventilator use complicaitons-> pneumonia, pneumothorax
  • Pulmonary/intracranial haemorrhage
  • Necrotising enterocolitis
  • Bronchopulmoanry dysplasia
  • Retinopathy of prematurity
  • Hearing and other neurological impairments
278
Name some neonatal  risk factors for neonatal sepsis
  • Late pre-term
  • Low birth weight <2.5kg
  • Black race independent risk factor for Group B strep relateed sepsis
279
How do patients with neonatal sepsis present?
  • Respiratory distress: grunting, nasal flaring, tachypnoea
  • Feeding problems
  • Jaundice
  • Shock and multi-organ failure
  • Temperature: not a reliable sign, especiallly in pre-term infants(more likely to be hypothermic)
  • Seizures
  • Neurological sx
  • Discharge from eyes-> chlamydia or gonorrhoea
  • Periumbilical cellulitis
  • Meningitis: bulging fontanelle, seizures
280
How is neonatal sepsis diagnosed/investigated?
  • Cultures, FBC, CRP
  • Blood gases
  • Urine mc+s if late onset sepsis
  • LP especially if meningitis concern
  • CXR advised against unless strong suspicion of chest source
281
In a patient with neonatal sepsis, if concerned about meningitis what antibiotic might you consider adding?
  • IV cefotaxime annd IV gentamicin
282
In a patient with neonatal sepsis, if concerned about necrotising enterocolitis what antibiotic might you consider adding?
  • Add metronidazole for anaerobic cover
283
In a patient with neonatal sepsis, if the mother has chorioamnionitis what antibiotic might you consider adding?
  • IV amoxicillin and IV gentamicin to cover for listeria
284
How is transient tachypnoea of the newborn diagnosed/investigated?
  • Clinical
  • CXR: hyperinflation of lungs and fluid in horizontal fissure
285
How is meconium aspiration syndrome diagnosed/investigated?
  • Mostly clinical
  • CXR: patchy areas of atelectasis and hyperinflation
  • ABG
  • Monitoring of oxygen
  • CRP, cultures if infection suspected
286
Name some causes of persistent/severe neonatal hypoglycaemia
  • Preterm birth (<37weeks)
  • Materal diabetes
  • IUGR
  • Hypothermia
  • Sepsis
  • Inborn errors of metabolism
  • Nesidioblastosis
  • Beckwith-Wiedemann syndrome
287
How is gastroschisis investigated/diagnosed?
  • Intrauterine USS, MRI
  • Labs: increased maternal serum alpha fetoprotein
288
Name some risk factors for gastroschisis
  • Mother's young age
  • Exposure to alcohol/tobacco
289
Name some ocmplicaitons of gastroschisis
  • Intestinal inflammaiton for intrauterine exposure to amniotic fluid
  • Malabsorption
  • Infarction of intestinal tube due to compressed blood vessels
  • Infection
290
Name some conditions associated with exomphalos
  • Down's syndrome
  • Edward's
  • Patau's
  • Beckwith-Wiedemann syndrome
291
Name some risk factors for exomphalos
  • Alcohol/tobacco use in pregnancy
  • SSRIs
  • Ovesity
292
Name some complications of exomphalos
  • Abdominal cavity malformation
  • Volvulus
  • Ischaemic bowel
293
How is exomphalos diagnosed/investigated?
  • Intrauterine USS
  • MRI
  • Bloods: MSAFP
  • Amniocentesis
294
How does a staged surgical repair work for exomphalos treatment?
  • Sac allowed to granulate and peithelialise over weeks/months-> forms shell
  • As infant grows-> sac contents can fit inside
  • Shell removed and abdomen closed
295
Name some complications of intestinal atresia
  • Distention of stomach and duodenum-> accumulated fluid
  • Polyhydramnios(fetus swallows less fluid so more builds up)
  • Intestinal perforation
  • Meconium peritonitis
296
Name some of the signs/symptoms of intestinal atresia
  • Polyhdramnios antenatally
  • Postnatal: distended abdomen and vomiting
  • Vomiting may be bilious or non-bilious depending on site of atresia

297
How is duodenal atresia diagnosed/investigated?
  • Prenatal USS-> detectable in 3rd trimester: dilated fluid-filled stomach adjacent to dilated duodenum
  • Postnalat XR: double bubble sign
  • Physical exam in surgery: apple peel shape of intestines
  • Amniocentesis for Down's
Double bubble sign
298
Describe the treatment of duodenal atresia
  • Gastric decompression-> remove fluid from stomach
  • IV fluid compensation
  • Surgical reattachment of functional portions f intestines-> duodenoduodenostomy
299
Name some differentials for oesophageal atresia and tracheo-oesophageal fistula
  • Congenital diaphragmatic hernia
  • Duodenal atresia
  • GORD
300
How is oesophageal atresia diagnosed/investigated?
  • USS antenatally
  • CXR: coilde NG tube
  • Echo and renal USS to chekcl for associateed anomalies
  • Genetics if needed
301
Name some complications of oesophageal atresia and tracheo-oesophageal fistula
  • Anastomotic leak or stricture
  • Poor feeding and failure to thrive
  • Reccurence of tracheo-oesophageal fistual
  • Trachemoalacia
  • Recurrent chest infections and bronchiectasis
  • GORD
302
Name some differentials for necrotising enterocilitis
  • Sepsis
  • Gastroenteritis
  • Intestinal malrotation with volvulus
  • Hirschsprung's disease
303
How is necrotising enterocilitis investigaed/diagnosed?
  • Abdo X-ray
  • Abdo USS and venous blood gas may also be used
304
Name some preventative strategies for necrotising enterocilitis
  • Encourage breastfeeding in mothers of prem babies
  • Delayed cord clamping
  • Antenatal steroids in pre term labour
  • Treatment of preterm infants with caffeine citrate to prevent bronchopulmonary dysplasia
305
Name some complications of necrotising enterocilitis
  • Perforation and peritonitis
  • Short bowel syndrome
  • Sepsis and shock
  • DIC
  • Abscess formation
306
How are congenital diaphragmatic hernias diagnosed/investigated?
  • USS in utero
  • CXR/USS in neonate
  • Check for other abnormalities including genetics
307
How should bilirubin levels be measures in a neonate?
  • Transcutaenous first
  • If elevated serum bilirubin
308
Name some complication of neonatal jaundice
  • Related to phototherapy-> loose stools and dehydraiton
  • Kernicterus
309
Name some complications of kernicterus
  • Damage ot nervous system is permanent
  • Cerebral palsy
  • Learning difficulties
  • Deafness
310
Name some complicatons of TORCH infecitons
  • Pre term birth
  • Delayed devlopment(IUGR)
  • Physical malformations
  • Loss of pregnancy
311
How are TORCH infections transmitted?
  • To fetus through placenta
  • During birth from birth canal
  • Through breast milk
312
Name some general symptoms of TORCH infections
  • Fever
  • Lethargy
  • Cataracts
  • Jaundice
  • Reddish-brown spots on skin
  • Hepatosplenomegaly
  • Congenital heart disease
  • Microcephaly
  • Low birth weight
  • Hearing loss
  • Blueberry muffin rash
313
How is CMV transmitted?
  • Direct contact with infected bodily fluids: saliva, tears, mucus, semen and vaginal fluids
314
How is HSV1 transmitted?
  • Oral herpes: oral secretions: kissing, sharing utensils, sharing drinks
315
How is HSV 2 transmitted?
  • STD
316
How is HSV transmitted to a newborn?
  • Passage through the birth canal
317
Name a consequence of parvovirus B19 in pregnancy
  • Severe reduction in RBC-anaemia in infected newborn
318
How might newborns with HIV present?
  • Low birth weight
  • Hepatosplenomegaly
  • Recurrent bacterial infections-> meningitis and pneumonia
319
How are TORCH infections diagnosed?
  • Prenatal pCR from amniotic fluid: toxoplasmosis, syphilis, B19
  • CMV: viral culture, IgM, PCR
  • Rubella: IgM
  • HSV: viral infections, PCR
320
How is toxoplasmosis treated in pregnancy and infancy?
  • Pregnancy: spiramycin
  • Infants: pyrimethamine and sulfadiazine
321
How are VZV and HSV treated in pregnancy/neonatology?
  • Acyclovir
322
How is treponema pallidum treated in neonates?
  • Penicillin
323
How is listeriosis investigated/diagnosed?
  • Blood cultures, CSF cultures
  • Placental or meconium cultures in neonates
324
How is listeriosis prevented in pregnancy
  • Avoid potentially contaminated food products
  • Cultures if unexplained febrile illness or suspicion of infection
325
How might HSV in neonates be diagnosed/investigated?
  • PCR, virus culture, direct fluorescent testing
  • MRI brain if suspected encepahlitis
326
How can the risk of bronchopulmonary dysplasia be reduced during pregnancy
  • GAive corticosteroids-betamethasone for premature labour to help speed up lung development
327
How can the risk of bronchopulmonary dysplasia be reduced once born?
  • Use CPAP instead of intubation/ventilation
  • Caffeine to stimulate resiratory effort
  • Don't over-oxygenate 
328
How is bronchopulmonary dysplasia diagnosed?
  • CXR and oxygen dependency of infant
  • Ssleep study to assess o2 satsa
329
Name some causes of epilepsy in children
  • Head trauma
  • Tumours
  • Infectious diseases
  • Prenatal injuries
  • Electrolye disturbances
  • Developmental disorders
  • Metabolic disorders
330
How is epilepsy diagnosed/investigated in children?
  • Refer urgently(<2weeks) for paeds assessment after 1st seizure
  • EEG-doesn't exclude epilpesy
  • MRI/CT to rule our structural causes
  • ECG for cardiacc causes
  • Genome sequencing if onset <2yrs and other features: learnign diasbilites etc)
331
Name some complications of epilepsy in children
  • Mood disorders
  • Status epilepticus
  • Sudden unexpected death in epilepsy
  • Developmental delay/regression
332
How are absence seizures diagnosed?
  • EEG: 3Hz, generalized, symmetrical
333
How are absence seizures treated?
  • Ethosuzimide 1st line
334
How is West's syndorme diagnosed?
  • EEG: hypsarrhythmia
  • ID underlying cause e.g. tuberous sclerosis, encephalitis etc
335
Describe the treatment of West's syndrome
  • Prednisolone
  • Vigabatrin
336
How is Dravet's syndrome diagnosed?
  • Genetic testing
337
Name some causes of global developmental delay
  • Down's
  • Fragile X
  • Rett's syndorme
  • Metabolic disorders
  • Prematurity
338
Name 2 red flags when it comes to development
  • Developmental arrest: initially normal, stops gianing further skills
  • Developmental regression
339
Name some behaviours that might prompt a referral for developmental delay
  • Doesn't smile at 10 weeks
  • Hand preference before 12 months
  • Can't sit unsupported at 12 months
  • Can't walk at 18 months
340
Name some causes of gross motor delay
  • CP
  • Ataxia
  • Myopathy and muscular dystrophy
  • Spina bifida
  • Visual impairment
341
Name some causes of fine motor delay
  • visual impariments(cataracts, retinoblastoma, ambylopia)
  • Dyspraxia
  • CP
342
Name some causes of social, emotional and behavioural delay
  • ASD
  • Neglect
  • Genetics: Down's etc
  • Hearing impairment
343
Name some causes of speech delay
  • Global delay-mc
  • hearing impairment
  • Chronic otitis media with effusion
  • Environment-lack of stimulus
  • ASD
  • Bilingual househols
344
Name some key gross motor milestones
  • 6-8 months: sits without support
  • 12-15 months: walks unsupported
  • 2 yrs: runs
  • 3-4 yrs: hops on one leg
345
Name some general fine motor and vision milestones
  • Newborn: fix and follow face/light 
  • 3 mths: reaches for object
  • 6 mths: palmar grasp, passess objects between hands
  • 9-12 months: pincer grip
346
Name some differentials for retinoblastoma
  • Congenital cataracts
  • TORCH infection
  • Congenital rubella-characteristic 'salt and pepper' appearance
347
How is retinoblastoma investigated/diagnosed?
  • Ophthalmic exam under general anaesthesia: dilated fundus exam and UDD B scan(mass-> characteristic)
  • MIR-> spread
  • LP/bone marrow biopsy-> if suspicion of extraocular invasion
  • Genetics
348
Name some conditionas associated with an increased risk of neroblastoma
  • Turner;s
  • Hirschsprung's
  • NF1
  • Congenital central hypoventilation syndrome
349
How is neuroblastoma diagnosed/investigated?
  • Urine catecholamines-> sensitive and specific: high levels of vanillymandelic acid(noradrenaline breakdown product) and homovanillic acid(adrenaline)
  • Bloods: pancytopenia, serum catecholamines, LFT's, LDH
  • Imaging: abdo USS, if mass: CT/MRI abdomen
  • Bone scan
  • Biopsy
350
Name some differentials for neuroblastoma
  • Wilms' tumour
  • Rhabdomyosarcoma
  • Phaeochromocytoma
  • Other neural crest tumours
351
Name one condition associated with hepatoblastoma
  • Beckweth-Wiedemann syndrome
352
How is hepatoblastoma investigated/diagnosed?
  • AFP: tumour marker
  • CXR to check for spread
  • USS
  • CT/MRI for staging and metastasis
  • Biopsy
353
Name some differentials for osteosarcoma
  • Ewing sarcoma: elevated ESR and LDH
  • Chondrosarcoma
  • Lymphoma of bone
354
How is osteosarcoma investigated/diagnosed?
  • Urgent XR in 25 hrs if child/young person has unexplained bone swelling/pain-if positive x ray: 48 hour specialist assessmen
  • X-ray: new bony growth and periosteal reaction causing sunburnt appearance
  • Full body CT: metastasis
  • Definitive: biopsy
355
Name some poor prognostic factors for osteosarcoma
  • Primary metastasis
  • Axial/prominent extremity tumour site
  • Large tumoru volume
  • High serum ALP or LDH
356
How can Ewing's sarcoma be classified?
  • Low grade restricted to hard coating of bone(A) or local tissues(B)
  • High grade tissue restricted to hard coating of bone (A) or extending to local tissues(B)
  • Low or high grade tumour whcih has metastasised
357
Name some differentials for Ewing's sarcoma
  • Osteosarcoma
  • Osetomyelitis
  • Lymphoma
358
How is Ewing's sarcoma diagnosed/investigated?
  • 48 hr Xray if young person with unexplained bone swelling/pain-> 48 hr assessment if positive
  • Bloods: FBC and LDH
  • Xray: onion skin appearance of bone destruction with layers of periosteal bone formation
  • CT/MRI/PET
  • Bone biopsy
359
Name some poor prognostic factors for Ewing's sarcoma
  • Large tumour burden
  • High lDH levels
  • Multiple bony metastasis
  • Axial localisation age >15yrs
  • Poor resposne to pre-op chemo
360
How is Hodgkin's lymphoma diagnosed/investigated?
  • Normocytic anaemia, neutrophilia, thrombocytosis, eosinophilia
  • Raised ESR and LDH
  • Lymph node biopsy: Reed Sternberg cells cells-diagnostic
  • CT/PET to stage disease
361
Name some conditions associated with an increased risk of brain tumours
  • Neurofibromatosis
  • Li-Fraumeni syndrome
  • Familial adenomatous syndrome
  • Gorli syndrome
362
How are brain tumours in children diagnosed/investigated?
  • Any child with newly abnormal cerebellar or neurologic function URGENT referrla(<48hrs) for suspected brain cancer
  • MRI/CT to visualise space-occupying lesions
  • LP 
  • Biopsy
363
Name some commplicaitons of paediatric brain tumours
  • GH deficiency
  • Cognitive decline
  • Subsequent brain tumour(risk increased duee ot radiotherapy)
  • Osteoporosis and poor mineral density
364
Name some differentials for von Willebrand's disease
  • Haemophilia-> mc bleeding into joints and muscles
365
How is von Willebrand's disease diagnosed/investigated?
  • Prolonged bleeding time and APTT
  • Normal PT and TT
  • Normal platelet count
  • Vin willebrand factor level and assay to confirm
366
Name some causes of microcytic anaemia in children
  • Iron deficiency-mc
  • Thalassaemia
  • Lead posioning
367
Name some causes of macrocytic anaemia in children
  • Vit B12/folate dficiency
368
Describe the treatment of IDA in children
  • Iron supplements+ diet advice
  • Vit B12 and folate if needed
  • Transfusions if severe
  • Tx underlying disease
369
How is alpha thalassaemia diagnosed/investigated?
  • FBC: microcytic anaemia
  • Hb electrophoresis-> can be normal, DNA analysis needed to make diagnosis
370
How is beta thalassaemia minor investigated/diagnosed?
  • Microcytosis with only mild anaemia
  • Blood filmd-target cells and basophilic stippling
  • Increased RBC
  • DIAGNOSTIC: Hb electrophoresis: raised HbA2
  • Ferritin normal/high
371
How is beta thalassaemia najor investigated/diagnosed?
  • Profound microcytic anaemia
  • Increased reticulocytes
  • Blood film: marked anisopoikilocytosis, target cells and nucelated RBCs
  • Methyl blue stains: RBC inclusions with precipitated alpha globin
  • Electrophoresis-> HbA2 and HbF raised
  • HbA2 normal or mildly elevated
372
Name some complications of beta thalassaemia major
  • Cardiomyopathy/arrhthymia/failure-AF in older patients
  • Acute bacterial sepsisrisk increased post splenectomy
  • liver cirrhosis, portal hypertension
  • Endocrine dysfunction: hypocalcaemia with tetany due to hypoparathyroidism
  • Iron overload
  • Death-> usually due to undiagnosed heart failure
373
How can iron overload be prevented?
  • Iron chelating agents: desferrioxamine/deferiprone/deferasirox
374
Name some differentials for sickle cell anaemia
  • Thalassaemia
  • G6PD deficiency
  • Haemoglobin C-variant which doesn't cause sx unlesss combined with HbS variant
375
How is sickle cell disease diagnosed/investigated
  • Diagnostic: Hb electrophoresis
  • CBC: anaemia
  • Blood smear: ID sickle shaped cells
376
How is fanconi anaemia diagnosed/investigated?
  • CBC, bone marrow
  • Chromosome DEB assay
  • Chromosomal breakage test positive
  • Cytometric flow analysis
377
How is fanconi anaemia treated?
  • Growth factors(G-CSF)
  • Androgen therapy
  • Transfusions
  • Stem cell transplant
  • Screen and monitor for malignancies
  • Family support, genetic counselling
378
Name some complications of fanconi anaemia
  • Neutropenia-> life-threatening infections
  • Malignancies: myelogenous leukaemias, myeloddysplastic syndromes etc
  • Endocirne derangements
  • Congenital anomalies
379
Name some differentials for haemophilia
  • Von Willebrand Disease
  • Factor deficiencies
  • Platelet disorders
  • Hamatological malignancies
  • Vasculitis
380
How is haemophilia investigated/diagnosed?
  1. Prolonged APTT with normal bleeding time, PT and thrombine time
  2. Diagnostic: factor 8/9 assay
  3. vWF antigen normal
381
Name a complication of Haemophilia A
  • Up to 1/3 of boys with haemophilia A will develop antibodies to factor 8 tx: worsens bleeding and complicates therapy
382
Name some differentials for ITP
  • Aplastic anaemia
  • Leukaemia
  • TTP
383
How is ITP diagnosed/investigated?
  • FBC: isolated thrombocytopenia
  • Blood film
  • Inflammatory markers
  • Bone marrow biopsy-only done if atypical features
384
Name some complications of ITP in children
  • Significant bleeds(3%)
  • Intracranial haemorrhage(1/300)
  • Typically occur when plt counts <20 + have pre-existing vascular abnormalities
385
Name some causes of TTP
  • Post-infection: urinary, GI
  • Pregnancy
  • Drugs: ciclosporin, OCP, penicillin, clopidogrel, aciclovir
  • Tumours
  • SLE
  • HIV
386
How is TTP investigated/diagnosed? 
  • Diagnostic: Low ADAMST13 activity
  • Urine dpistick: haematuria, non-nephrotic range proteinuria
  • FBC: normocytic anaemia, thrombocytopenia and raised neutrophil
  • U&E: raised urea and creatinine
  • Clotting normal
  • Blood film: reticulocytes(secondary to haemolysis) and schistocytes(fragmented RBCs)
  • D-dimer raised
387
Name some differentials for testicular torsion
  • Epididymo-orchitis
  • Trauma
  • Inguinal hernia
388
How is testicular torsion diagnosed/investigated?
  • Clinical
  • Doppler USS-> reduced/absent blood flow to affected testicle-'whirlpool' sign
  • Urinalysis: rule out infection/UTI
  • Shouldn't delay treatment to wait for investigations
389
Name some complications of testicular torsion
  • Testicular necrosis
  • Impaired fertility
  • Contralateral testicular torsion in 40% of cases without bilateral fixation
390
How does testicular torsion present in neonates?
  • Paainless scrotal swelling whcih does not transilluminate
391
Give some examples of primary sexual characteristics
  • Men: penis, scrotum, testes
  • Women: vulva, vagina uterus, ovaries
392
Give some examples of secondary sexual characteristics
  • Men: facial hair, testicle/penile enlargement
  • Women: Pubic hair, breast development, widening of hips
393
How can precocious puberty be classified?
  • Gonadotrophin-dependent precocious puberty(GDPP)
  • Gonadotrophin independent precocious puberty(GIPP)
394
Name some causes of gonadotrophin-dependent precocious puberty(GDPP)
  • Idiopathic(>90% of cases)
  • Brian tumours
  • Cranial radiotherapy
  • Structural brain damage: hydrocephalus, meningitis, traumatic head injury
395
Name some causes of gonadotrophin-independent precocious puberty
  • Gonadal tumours
  • Adrenal/liver tumours
  • Congenital adrenal hyperplasia
396
Name some differentials for precocious puberty
  • Thryoid disorders
  • Growth hormone excess(acromegaly etc0
  • McCue-Albright syndrome
397
How is precocious puberty diagnosed/investigated?
  • Measure oestradiol/testosterone levels, adrenal androgens, TFTs and HCG
  • Brain MRI
  • Pelvic USS-> ovarian cysts/pathology
  • Hand and wrist X-rays for bone age
  • Intra-abdominal imaging if adrenal/hepatic tumour suspected
  • MRI brain and GnRH stimulation test dependednt on initial investigation results
398
Name some complications of precocious puberty
  • Accelerated skeletal development and premature fusion of bone growth plates-> reduced final adult height
  • Psychological wellbeing
399
How do patients with Kallmann's syndrome present?
  • Typical: boy with delayed puberty and anosmia(no smell)
  • Hypogonadism, cryptorchidism
  • Low sex hormone levels
  • LFF/FSH low/normal
  • Normal/above-average height
  • Cleft lip/palate abd visual/hearing defects also seen in some patients 
400
Name some differentials for congenital adrenal hyperplasia
  • Adrenocortical tumour
  • PCOS
  • Hypothyroidism
  • Addison's disease
401
How is congenital adrenal hyperplasia investigated/diagnosed?
  • Bloods: 17-hydroxyprogesterone and ACTH elevated in CAH+ cortisol low
  • ACTH stimulation testing: gold standard
  • Genetic testing-to ID specific enzyme too
  • Imaging: USS to assess internal organs if ambiguous genitalia
  • Not currently routinely screened for
402
Name some complications of congenital adrenal hyperplasia
  • Growth suppression(premature epiphyseal closure-> high concentration of sex steroids)
  • Metabolic syndrome(diabetes, obesity, htn)
  • Infertility
403
How is obesity defined in children?
  • BMI >98th centile for their age and sex
  • Overweight: >91st centile
404
Name some causes of obesity in children
  • Growth hormone deficiency
  • Endocrine: Hypothyroidism, Cushing's
  • Down's
  • Genetics: Prader-Willi
  • Medications: steroids
405
Name some consequences of obesity in childhood
  • Orthopaedic problems: SUFE,, blount's disease, MSK pain
  • Psychological consequences: poor self-steem, bullying
  • Sleep apnoea
  • Benign intracranial htn
  • Long term: Increased risk of T2DM, htn, ischaemic heart disease
406
Name some risk factors for congenital hypothyroidism
  • Medication use during pregnancy-e.g. carbimazole
  • Maternal advanced age
  • Fhx of thyroid disease
  • Low birth weight
  • Pre-term birth
  • Multiple pregnancies
407
Name some differentials for congenital hypothyroidism
  • Down's syndrome
  • Congenital metabolic disorders
408
How is congenital hypothyroidism diagnosed/investigated?
  • Newborn screening: TSH>20mU/L
  • Elevated TSH and decreased free T4
  • Imaging: Thyroid USS/radionuclide scan to ID thyroid dysgenesis
  • Hearing assessment
409
Name some complications of congenital hypothyroidism
  • Irreversible intellectual disability
  • Sx of hyperthyroidism due to over-replacement of levothyroxine: wt loss, heat intolerance, tachycardia, diarrhoea, palpitations
410
How is pica investigated/diagnosed?
  • FBC: check for anaemia
  • Iron studies
  • Serum zinc levels
  • Lead level
  • Abdo x-ray: ingested foreign objects or GI obstruction
  • USS/CT if obstruction/perforationn suspected
  • Psych evaluation
411
Name some complications of pica
  • Nutritional deficiencies
  • GI complications: obstruction, perforation, intestinal parasites
  • Dental problems
  • Toxicity: lead poisoning etc
  • Infections
412
Name a risk factor for eczema
  • Fhx of atopy(asthma, hayfever)
413
How can eczema be classified?
  • Atopic eczema
  • Allergic contact dermatitis
  • Irritant contact dermatitis
  • Seborrheic dermatitis
  • Venous eczema
  • Asteatotic dermatitis
  • Erythrodermic eczema
  • Pompholyx eczema
414
How is eczema diagnosed?
  • Usually clinical
  • Patch test: if allergic contact dermatitis
  • Swabs: if concerned about infection
  • Bloods: if concerned about infection-total IgE and raised eosiniphils 
415
How can eczema be classified in order of severity
  • Mild: areas of dry skin and infrequent itching
  • Moderate: dry skin, frequent itching and erythema
  • Severe: widespread, incessant itching and erythema
  • Infected: weeping, crusted, pustules, fever or malaise
416
Name some complications of eczema
  • Scratching: poor sleep, poor mood, bacterial infection rik
  • Psycho-social: insecurities, avoid certain activities like swimming
  • Eczema herpeticum
417
How is eczema herpeticum diagnosed?
  • Swab and Tzanck test
418
How is eczema herpeticum treated?
  • IV aciclovir
  • Often given concomitantly with antibiotics as concomitant bacterial infection common and difficult to exclude clinically
419
Name some causes of Stevens Johnson syndrome
  • Beta lactams: penicillins and cephalosporins
  • Sulphonamides
  • Lamotrigine, carbamazepine, phenytoin
  • Allpurinol
  • NSAIDs
  • OCP
  • Infectious: HSV, EBV, influenza, hepatitis
420
Name some differentials for Steven-Johnson syndrome
  • Erythema multiforme
  • Drug rash with eosinophilia and systemic sx(DRESS)
421
How is Steven-Johnson syndrome diagnosed?
  • Usually clinical
  • Skkin biopsy-> necrotic keratinocytes and a sparse lymphocytic infiltrate
422
Name some differentials for allergic rhinitis
  • Sinusitis
  • Nasal polyps
  • Deviated nasal septum
  • Common cold
423
How is allergic rhinitis diagnosed?
  • Clinical
  • Skin prick or blood tests for specific IgE antibodies to ID allergen
424
Name some causes of rashes in children
  • Septicaemia
  • Slapped cheek
  • Hand foot and mouth
  • Measles
  • Urrticaria
  • Chickenpox
  • Roseola
  • Rubella
425
Name some differentials for urticaria
  • Dermatitis
  • Drug eruptions
  • Erythema multiforme
  • Vasculitis
  • AI disorders
426
How is urticaria diagnosed/investigated?
  • Clinical-thorough history and exam
  • Allergy testing
  • Bloods: FBC, LFT, TFT, ESR, CRP: rule out underlying systemic diseases
  • Urinalysis if suspected vasculitis
  • Skin biopsy
  • Sx diaries: establish triggers and timings
427
Name some complications of urticaria
  • Resp compromise in severe cases of angioedema involving upper airway
  • Psych distress and decreased QOL
  • SE's from long0term meds
428
Name some different kinds of birth marks
  • Salmon patches/stork-marks
  • Haemangiomas/strawberry marks
  • Port wine stains
  • Cafe-au-lait spots
  • Blue-grey spots
  • Congenital moles/naevi
429
How can anaphylaxis be investigated/diagnosed?
  • Serum mast cell tryptase: ppeak 1 hr post anaphylaxis, remain high for 6 hours
  • Shouldn't delay treatment
430
Name some investigations used to iagnose/assess rheumatic fever
  • ECH-prolonged PR
  • Bloods: FBC, CRP, ESR, cultures
  • Proof of recent strep infection
  • CXR-heart failure
  • Echo-valvular abnormalities
431
Name some complications of rheumatic fever
  • Mitral stenosis-isolated is mc
  • Mitral regurg
  • Mixed mitral stenosis and regurgitation
  • Aortic regurgitation
  • Aortic stennosis
  • Tricuspid regurg/stenosis
432
Name some differentials for paediatric heart failure
  • Asthma
  • Pneumonia
  • GORD
  • Anaemia
433
How can infective endocarditis be classified?
  • Acute: Up to 6 weeks
  • Subacute: 6 weeks-3 months
  • Chronic: >3 months
434
Name some non-infective causes of infective endocarditis
  • Marantic endocarditis(malignany-pancreatic cancer)
  • Libman-Sacks endocarditis(SLE)
435
Name some of the symptoms of infective endocarditis
  • Diverse and variable-can be rapid progression or chronically/non-specific
  • Fever-mc
  • Night sweats
  • Anorexia
  • Weight loss
  • Myalgia
  • Headache
  • Arthralgia
  • Abdo pain
  • Cough
  • Pleuritic pain
436
Name some differentials for infective endocarditis
  • Non-infectious endocarditis
  • Rheumatic fever
437
How is infective endocarditis diagnosed?
  • Modified Duke criteria
  • 2 major OR one major and 3 minor OR all 5 minro
438
How can you remember the Duke criteria?
BE FIVE PM
Major:
  • Blood cultures
  • Evidence of endocardial involvement on echo
Minor:
  • Fever
  • Immunological phenomena
  • Vascular phenomena
  • Echo
  • Predisposing features
  • Microbiological evidence
439
Name some indications for surgery in patients with infective endocarditis
  • Haemodynamic instability
  • Severe heart failure
  • Severe sepsis
  • Valve obstruction
  • infected prosthetic valve
  • Persistent bactaraemia
  • Repeated emboli
  • Aortic root abscess-> PR prolongation on ECG
440
Name some complications of infective endocarditis
  • Acute valvular insufficiency causing heart failure
  • Neurological sx: stroke, abscess, haemorrhage
  • Embolic complications-> infarctions of kidneys, spleen or lung
  • Inffections: osteomyelitis, septic arthritis
441
How is congenital heart block diagnosed?
  • Prenatal scans: fetal bradycardia
  • ECG: complete dissociation between P waves(atrial contraction) and QRS complexes(ventricular contraction)
442
Name some complications of congenital heart block
  • Fetal hydrops and intrauterine death
  • Heart failure
443
Name some red flag features when considering a diagnosis of IBS
  • Rectal bleeding
  • Unexplained/unintentional weight loss
  • Fhx of bowel or pvarian cancer
  • Onset after 60 years
444
Name some differentials for IBS
  • IBD
  • Coeliac
  • Colorectal cancer
445
Name some parasitic causes of gastroenteritis 
  • Cryptosporidium
  • Entamoeba histlytica
  • Giardia intestinalis
  • Schistosoma
446
Name some differentials for gastroenteritis
  • Food poisoning
  • IBS
  • IBD
  • Peptic ulcer disease
  • Bowel obstruction
447
How is gastroenteritis diagnosed/investigates?
  • Clinical
  • BP
  • Stool cultures: if immunocompromied, recently travelled abroad, mucus/blood in stool
  • Urine dip for blood/protein: haemolytic uraemic syndrome
  • Bloods and blood cutures
  • Stool cultures if not improving after 7 days
448
How is gastroenteritis caused by salmonella/shigella treated?
  • Ciprofloxacin
449
How is gastroenteritis caused by campylobacter treated?
  • Macrolide like erythromycin
450
How is gastroenteritis caused by cholera treated?
  • Tetracycline
451
How should the spread of gastroenteritis be prevented?
  • Children off school until 48 hours after last episode of vomiting/diarrhoea
  • Shouldn't swim  in swimmin gpools for 2 weeks after
452
Name some risk factors for developing dehydration in patients with gastroenteritis
  • <1yr
  • Low brith weight/malnutrition
  • 24 hours: >2 vomits or >5 diarrhoeal stools
  • Unable to tolerate fluids
453
Name some complications of gastroenteritis
  • Dehydration
  • Lactose intolerance following resolution of gastroenteritis episode
  • Haemolytic uraemic syndrome
454
Name some risk factors for Crohn's disease
  • Family history
  • Smoking : 3 times increased risk
  • Diets high in refined carbs and fats
455
How is Crohn's disease diagnosed?
  • Faecal calprotectin: raised
  • Colonoscopy with biopsy-diagnostic
  • Anaemia, raised ESR/CRP, thrombocytosis, haematinics and iron studies
  • Transmural inflammation seen on imaging(MRI)
456
Name some complications of Crohn's disease
  • Fistulas
  • Strictures
  • Abscesses
  • Malabsorption
  • Perforation
  • Nutritional deficiencies
  • Increased risk of colon cancer
  • Osteoporosis
  • Intestinal obstruction and toxic megacolon
457
Name some differentials for Ulcerative colitis
  • Crohn's
  • Infectious colitis
  • Ischaemic colitis
458
How is Ulcerative colitis diagnosed/investigated?
  • Faecal calprotectin
  • Bloods: raised ESR/CRP, anaemia and raised WCC
  • Long standing UC: Lead pipe colon on abdo x ray
  • Colonosopy, barium energy and biopsy
459
Name some indications for urgeent surgery in a patient with Ulcerative colitis
  • Acute fulminant UC
  • Toxic megacolon with little improvement after 48-72 hours
  • Sx worsening despite IV steroids
460
Name some acute complications of Ulcerative colitis
  • Toxi megacolon
  • Massive lower GI haemorrhage
461
Name some long-term complications of Ulcerative colitis
  • Colorectal cancer
  • Cholangiocarcinoma
  • Colonic strictures-> large bowel obstruction
462
Name 3 things gluten is found in
  • Wheat
  • Rye
  • Barley
463
Name some risk factors for coeliac disease
  • Family history
  • HLA-DQ2 allele
  • Co-existing AI conditions
464
Name some differentials for coeliac disease
  • IBS
  • IBD
  • Lactose intolerance
465
How is coeliac disease diagnosed?
  1. Anti TTG IgA antibody and total IgA levels, IgA EMA antibodies
  2. GS: OGD with jejunal biopsy: subtotal villous atrophy
466
Name osme complications of coeliac disease
  • Anaemia(iron, B12 or folate deficiency)
  • Hyposplenism
  • Osteoporosis
  • Enteropathy associated T cell lymphoma(EATL)
467
How can undernutrition be classified?
  • Wasting-low weight for height
  • Stunting: low height for age
  • Underweight: low weight for age(can be due to stunting wasting or both)
  • Micronutrient-related malnutrition: iron, vitamin A or iodine
468
Name some differentials for malnutrition in children
  • Specific genetics: Prader-Willi/Turner
  • Infectious diseases
  • Coeliac
469
How might malnutrition be assessed in a child?
  • Accurate measurement of height and weight plotted on growth charts
  • Bloods to check for anaemia and specific deficiencies
  • Tests to check for specific organic causes
470
Name some complications of malnutrition
  • More frequent/severe infections
  • Poor wound healing
  • Failure to thrive
  • Reduced muscle mass
  • Poor bone health-rickets/osteoporosis
  • Reduced congition
  • Leading cause of mortality in children<5yrs globally
471
How can FTT be classified?
  • Organic-medical illness
  • Non-organic: psycho-social
472
Name some causes of organic FTT
  • GI: GERD, malabsorption like coeliac
  • Metabolic: thryoid disorders
  • Chronic: congenital heart disease, CF
473
Name some differentials for FTTQ
  • UTI-common
  • Laryngomalacia
  • Pyloric stenosis
  • CF
474
How should FTT be assessed/investigated?
  • Growth parameters-growht chart
  • Physical signs of malnutrition-muscle wasint, SC fat loss, brittle hair
  • Developmental assessment
  • Investigations for underlying dx: bloods, coeliac screen etc
475
How do patients with Hirschsprung's disease present?
  • Neonatal: failure/delayed passage of meconium, vomiting
  • Older children: tx resistant constipation, abdominal distention, poor weight gain
476
How is Hirschsprung's disease investigated/diagnosed?
  • Abdo x-ray
  • Rectal biopsy: gold standard
477
Name some differentials for Meckel's diverticulum
  • Gastroenteritis
  • Appendicitis
  • IBD
  • Intestinal obstruction
478
How is Meckel's diverticulum investigated/diagnosed?
  • Technetium-99m scan-ID ectopic gastric mucose(if stable)
  • CT can show intususseption
  • Ix should not delay tx-dx can be made operatively
479
Name some features indication a Meckel's diverticulum is high risk
  • Longer than 2cm or narrow neck/fibrotic tissue
  • Ectopic gastric tissue
  • Inflamed diverticulum
480
Name some complications for Meckel's diverticulum
  • Haemorrhage
  • Intussusception
  • Obstruction
  • Ulceration and perforation
481
Describe the symtpoms of toddler's diarrhoea
  • Stools vary in consistency
  • Often contain undigested food
  • >3 loose stools per day
482
How can cow's milk protein intolerance be classified?
  • Immediate: IgE mediation: CMPA(allergy)
  • Delayed: non-IgE mediated(CMPI(intolerance)
483
How is cow's milk protein intolerance diagnosed/investigated?
  • Eliminate cow's milk protein from diet for 2-6 weeks and reintroduce-monitor symptoms
  • Skin prick test
  • Specific IgE testing
484
Name some differentials for cow's milk protein intolerance
  • Lactose intolerance
  • GERD
  • Eosinophilic oesophagitis
485
How is a choledochal cyst diagnosed?
  • Abdo USS scan-> dilated bile duct
  • MRCP/ERCP
486
How is a choledochal cyst treated?
  • Surgical removal of cyst and gallbaldder
  • Liver biopsy at same time to check for damage
487
Name some complications of a choledochal cyst
  • Liver fibrosis/cirrhosis
  • Cholangitis
  • Pancreatitis
  • Cancer of bile ducts
488
Name some complications of neonatal hepatitis
  • If untreated for >6 months risk of chronic liver disease-> hepatic cirrhosis-> liver failure
489
How is neonatal hepatitis investigated/diagnosed?
  • USS: check bile ducts for obstruction and correct development
  • Liver biopsy: multinucelated giant cells
  • Bloods: high serum bilirubin
490
How can hernias be classified?
  • Location of hernia
  • Status of bowel
491
Describe the types of hernias when classed by location
  • Umbilical
  • Epigastric
  • Inguinal
492
How are strangulated hernias investigated/diagnosed?
  • Clinically when reducible
  • USS typically first line-rule out causes of acute abdomen
  • CT for signs of ischaemia
  • Bloods ofr signs of infection
493
Name some complications of a hernia
  • Recurrence of hernia
  • Stranguled-> bowel ischaemia, necrosis , perforation and sepsis

3A med mine (12 decks)

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