Paeds Flashcards
1
Q
What is the definition of a PDA (Patent Ductus Arteriosus)?
A
ACYANOTIC congenital cardiac defect. Connection between aortic arch and pulmonary trunk.
2
Q
What is the pathophysiology of PDA?
A
Normally, the ductus arteriosus closes by week 3. If it remains open, a left-to-right shunt occurs (aorta → pulmonary trunk), causing pulmonary HTN and right ventricular hypertrophy.
3
Q
What are the associations of PDA?
A
Prematurity
Maternal rubella infection
4
Q
What are the clinical features of PDA?
A
May be asymptomatic, or present with SOB, poor feeding, failure to thrive, recurrent LRTI, hepatomegaly, left subclavicular thrill, and large volume, collapsing pulse.
5
Q
What type of murmur is associated with PDA?
A
Continuous ‘machinery’ murmur
6
Q
What investigations are used for PDA?
A
Cardiac echocardiogram
7
Q
What is the management for PDA?
A
1st line → Indomethacin or Ibuprofen to induce closure.
If not closed by 1 year → Surgical closure.
8
Q
What is the definition of an Atrial Septal Defect (ASD)?
A
An ACYANOTIC congenital cardiac defect characterized by a hole between both atria.
It is the congenital defect most likely to be found in adulthood, including Patent Foramen Ovale (PFO).
9
Q
What is the pathophysiology of an Atrial Septal Defect (ASD)?
A
Left to right shunt → pulmonary hypertension → right ventricular hypertrophy (heart failure).
10
Q
What are the common associations with Atrial Septal Defect (ASD)?
A
Prematurity
Maternal rubella infection.
11
Q
What are the typical clinical features of an Atrial Septal Defect (ASD) in childhood?
A
ASYMPTOMATIC in childhood; if symptoms present: non-specific symptoms such as SOB, poor feeding, failure to thrive, recurrent lower respiratory tract infections (LRTI), and hepatomegaly.
12
Q
How does an Atrial Septal Defect (ASD) present in adulthood?
A
SOB, right-sided heart failure, or stroke.
13
Q
What is the characteristic murmur in an Atrial Septal Defect (ASD)?
A
Ejection systolic murmur (ESM)
louder at the upper left sternal border and on inspiration, with fixed splitting of S2.
14
Q
What investigations are used to diagnose an Atrial Septal Defect (ASD)?
A
Cardiac echocardiogram.
15
Q
What is the management for a small or asymptomatic Atrial Septal Defect (ASD)?
A
Conservative management and possibly anticoagulants to reduce stroke risk.
16
Q
What is the management for a large or symptomatic Atrial Septal Defect (ASD)?
A
Surgical intervention, either trans-catheter or open approach.
17
Q
What are the complications of Atrial Septal Defect (ASD)?
A
High mortality rate (50% by age 50) with complications such as
-stroke
-atrial fibrillation (AF)
-pulmonary hypertension leading to right-sided heart failure.
18
Q
What is the definition of a ventricular septal defect (VSD)?
A
ACYANOTIC congenital cardiac defect (MOST COMMON).
A hole between both ventricles. Close naturally in 50% of cases - nearly always associated with other abnormalities.
19
Q
What is the pathophysiology of VSD?
A
Left to right shunt → pulmonary HTN → right ventricular hypertrophy (HF).
20
Q
What are the associations of VSD?
A
Chromosomal disorders (Down’s, Edward’s, Patau’s), Congenital infections.
21
Q
What are the clinical features of VSD in childhood?
A
May be asymptomatic. If symptoms: failure to thrive, poor feeding, hepatomegaly, pallor, tachycardia, tachypnoea.
22
Q
What is the murmur associated with VSD?
+ where is it loudest
A
Pan systolic murmur: harsh, at the left lower sternal border.
23
Q
How is VSD diagnosed?
A
Often picked up in antenatal scans. If murmur, perform a cardiac echocardiogram.
24
Q
What is the management for small VSD?
A
Conservative management, as 50% close spontaneously.
25
What is the management for large or symptomatic VSD?
Surgical closure, as HF symptoms appear early.
26
What is the definition of coarctation of the aorta?
ACYANOTIC congenital cardiac defect.
A narrowing of the aortic arch, often near the ductus arteriosus. Often associated with a genetic abnormality.
27
What is the pathophysiology of coarctation of the aorta?
Narrowing of the aorta reduces outflow pressure to the body and increases backflow pressure to the distal aorta and heart.
28
What are the associations with coarctation of the aorta?
Turners syndrome + Bicuspid aortic valve
29
What are the clinical features of coarction of the aorta in infants?
Left HF → SOB, ↑RR
Weak femoral pulses, +/- RADIO-FEMORAL DELAY
30
What are the clinical features of coarction of the aorta in adults?
HYPERTENSION (adult with systolic murmur + HTN = ?COA)
- Notching of inferior rib border
31
What type of murmur is associated with coarctation of the aorta?
Where is it loudest?
Mid-systolic murmur, louder in the upper back region
32
What investigations are done for coarctation of the aorta?
Cardiac echocardiogram
33
What is the management for coarctation of the aorta?
Small - conservative,
Large/symptomatic - surgical give - Prostaglandin E to keep the ductus arteriosus open while awaiting surgery.
34
What is the definition of Tetralogy of Fallot?
CYANOTIC congenital heart defect - the most common of this type. Present at around 1-2 months. Caused by a misalignment of the aorta/pulmonary septal area.
35
What is the pathophysiology of Tetralogy of Fallot?
Overriding aorta - more to the right near the VSD.
This means ↑ deoxygenated blood flow out of aorta.
Pulmonary valve stenosis prevents right ventricular outflow to the lungs.
This increases flow through VSD from right heart to left heart → right to left shunt → ↑ bypass lungs = ↑ deoxygenated aorta blood → ↑ cyanosis.
Leads to RVH as it thickens to attempt to push through obstruction.
36
What are the four pathologies that make up Tetralogy of Fallot?
1. VSD - Ventricular Septal Defect
2. RVH - Right Ventricular Hypertrophy
3. Overriding Aorta
4. Pulmonary Valve Stenosis (Right ventricular outflow obstruction)
37
What are the associations of Tetralogy of Fallot?
Maternal rubella infection
38
What are the clinical features of TOF in the first months of life?
Cyanosis/collapse
hypercyanotic 'tet' spells (transient worsening of cyanosis
tachypnoea
may result in LOC during exertion such as crying or getting up)
poor feeding/failure to thrive
39
What is the murmur heard in Tetralogy of Fallot?
ESM (ejection systolic murmur) - heard at the left sternal edge
40
What are the investigations for Tetralogy of Fallot?
Cardiac echocardiogram - Boot-shaped heart
ECG - Shows RVH
41
What is the management for hypercyanotic 'tet' spells?
Beta blockers + oxygen
42
What is the surgical management for Tetralogy of Fallot?
Total surgical repair - Prostaglandin E1 whilst awaiting surgery, 5% mortality, 90% of those who survive will live to adulthood.
43
What is the definition of Transposition of the Great Arteries (TGA)?
CYANOTIC congenital cardiac defect.
Failure of aorticopulmonary septum separation leads to the aorta being connected to the right ventricle and the pulmonary artery connected to the left ventricle.
It is often detected during pregnancy and is instantly life-threatening at birth.
44
What is the pathophysiology of TGA?
The aorta and pulmonary artery are flipped, causing two separate circulations that do not mix.
Deoxygenated blood is pumped to the body, leading to cyanosis.
45
What is the most common association with TGA?
Diabetic mother.
46
What are the clinical features of TGA from birth?
Cyanosis, tachypnoea, and a prominent RV impulse palpable.
47
What murmur is associated with TGA?
Loud S2.
48
What is the first-line investigation for TGA?
Cardiac echocardiogram, which is typically picked up in antenatal scans.
49
What is the management for TGA?
Prostaglandin E1 to keep the PDA open until surgery and urgent surgical correction.
50
What is the definition of Ebstein's anomaly?
Cyanotic congenital heart defect. Referred to as atrialisation of right ventricle.
ASD seen in 80% of patients. WPW also often seen.
51
What is the pathophysiology of Ebstein's anomaly?
Low insertion of tricuspid valve → ↑ Right atrial size and ↓ Right ventricle size.
52
What are the associations of Ebstein's anomaly?
Lithium exposure during pregnancy.
53
What are the clinical features of Ebstein's anomaly?
PC: Cyanosis, HF (Hepatomegaly, oedema, poor feeding, failure to thrive).
54
What type of murmur is heard in Ebstein's anomaly?
Pansystolic (tricuspid regurgitation) murmur. Louder on inspiration.
55
What investigations are done for Ebstein's anomaly?
Cardiac echocardiogram, ECG (RBBB & WPW).
56
How is Ebstein's anomaly managed?
Manage arrhythmia/HF. Definitive management is surgical.
57
What is Eisenmenger Syndrome?
A syndrome caused by the reversal of a left-to-right shunt, resulting from a chronic congenital cardiac defect.
58
What is the pathophysiology of Eisenmenger Syndrome?
Left to right shunt: Backflow of oxygenated systemic blood from the left side to the right side of the heart.
This leads to increased pulmonary blood flow, causing pulmonary hypertension, which leads to right heart strain and RVH.
Eventually, pulmonary pressure becomes greater than systemic pressure, causing the reversal of the left-to-right shunt to a right-to-left shunt.
This results in deoxygenated blood bypassing the lungs and flowing into the left ventricle and then through the aorta to the body, leading to cyanosis.
59
What are the causes of Eisenmenger Syndrome?
Congenital heart defects that cause a left-to-right shunt: PDA, ASD, VSD.
60
What are the clinical features of Eisenmenger Syndrome?
Cyanosis, murmur (usually quiet), right heart failure (RHF): right ventricular heave, raised JVP, peripheral oedema, loud P2, chronic hypoxia: SOB, clubbing, cyanosis.
61
What is the management for Eisenmenger Syndrome?
Ideally, early identification of the cardiac defect prevents the development of Eisenmenger syndrome.
The only management option is heart-lung transplantation.
Increased risk of heart failure, infective endocarditis, thromboembolism, and haemorrhage.
62
What are the key steps in neonatal resuscitation?
- Warm the baby
- Stimulate breathing (neutral position, rub with towel)
- 2x 5 ventilation breaths, then reassess after 30 seconds
63
When is the APGAR score calculated, and what do the scores mean?
- At 1, 2, and 5 minutes
- 0-3 = Poor condition
- 7-10 = Good health
64
What is the main cause of hypoxic-ischaemic encephalopathy (HIE)?
Perinatal hypoxia due to factors like shock, cord prolapse, nuchal cord
65
What is the risk of prolonged HIE?
Permanent brain damage → cerebral palsy
66
How is HIE managed?
NICU support, ventilation, oxygenation, and therapeutic hypothermia for 72 hours to protect the brain
67
What are the routine newborn care steps after birth?
- Vitamin K
- Clamp umbilical cord & skin-to-skin contact
- Warm baby and measure weight/length
68
What tests are done in the first days after birth?
- Newborn exam within 72 hours
- Hearing test
- Blood spot (heal prick) on day 5
69
What conditions are screened in the newborn blood spot test?
- Congenital hypothyroidism
CF
Sickle cell
Phenylketonuria (PKD)
MCADD
Maple syrup urine disease
Isovaleric acideamia
- Glutaric aciduria type 1 (GA1)
- Homocystinuria (HCU)
70
What is neonatal apnoea, and how is it treated?
- Short episodes of no breathing with bradycardia
- Common in preterm neonates (should resolve over time)
- IV caffeine stimulates breathing
71
What is retinopathy of prematurity (ROP), and who is at risk?
- Abnormal retinal development, can lead to neovascularisation, scarring, detachment, and blindness
- Risk: <32 weeks gestation or <1.5kg birth weight
72
How is ROP screened and managed?
- Screen every 2 weeks until resolution
- If <27 weeks → start at 30-31 weeks
- If >27 weeks → start at 4-5 weeks post-birth
- Treatment: Photocoagulation
73
What is the key rule about neonatal jaundice?
Jaundice within 24 hours of birth is ALWAYS pathological (suggests haemolytic disease or congenital infection)
74
What are the main causes of prolonged neonatal jaundice (>2 weeks)?
- Breast milk jaundice
- Poor feeding
- Sepsis (often UTI)
- Biliary atresia
75
How is neonatal jaundice managed?
- Phototherapy if bilirubin is above threshold
- Exchange transfusion if severe
76
What is the expected neonatal weight loss pattern?
- Up to 5% loss if formula-fed
- Up to 10% loss if breastfed
- Should regain birth weight by day 10
77
When does weaning onto solid foods begin?
At 6 months
78
What are signs of an inborn error of metabolism?
- High ammonia
- Metabolic acidosis
- Tachypnoea (accomodating for acidosis)
- May mimic spesis
79
What are key red flags for non-accidental injury (NAI)?
- Subdural haematoma
- Retinal haemmorhages
- Delayed presentation
- Multiple injuries
- Injury patterns inconsistent with history
80
What injury locations raise suspicion for abuse?
TENS - Torso, Ear, Neck
81
Why are rib fractures concerning in young children?
Rare in accidental trauma → Suggests forceful squeezing
82
What age group is at highest risk for NAI?
Infants < 4 months
83
What patterns of bruising suggest abuse?
- Hand grip marks
- Slap marks
- Bruises matching objects
84
How should concerns about child abuse be escalated?
Escalate to seniors and follow trust safeguarding protocols
- Immediate danger → alert security/police
85
What is the most common cause of paediatric cardiac arrest?
Respiratory failure
86
How do vital signs change with age?
Higher in infants, normalising around 12 years old
87
What are the key steps in paediatric resuscitation?
1. 5 rescue breaths
2. Check femoral pulses
3. 15:2 compresson to breaths
4. Compression technique
-thumbs for infants
-one hand for older children
88
What is the most common cause of anaphylaxis in children?
Food allergies
89
How does anaphylaxis present?
Sudden onset airway, breathing, and circulation compromise
90
What test can confirm anaphylaxis after the event?
Serum tryptase
91
What is the first-line management of anaphylaxis?
IM adrenaline (anterolateral middle third of thigh)
92
When should adrenaline be repeated?
Every 5 minutes if no improvement
93
What to do if anaphylaxis is refractory to 2 doses of IM adrenaline?
Give IV fluids and consider an adrenaline infusion
94
What are the IM adrenaline doses for children?
- < 6 months: 100-150 mcg (0.1-0.15ml of 1:1000)
- 6 months - 6 years: 150 mcg (0.15ml)
- 6 - 12 years: 300 mcg (0.3ml)
- 12+ years: 500 mcg (0.5ml)
95
What follow-up is required after anaphylaxis?
Referral to a specialist allergy clinic
96
What is the most common childhood cancer?
Acute Lymphoblastic Leukaemia (ALL)
97
At what age does ALL peak?
2-5 years old
98
How does ALL typically present?
Anaemia (lethargy, pallor)
neutropenia (frequent infections)
thrombocytopenia (bruising, petechiae).
May also have fever & hepatosplenomegaly.
99
What blood test findings are seen in ALL?
↓ Hb, ↓ neutrophils, ↓ platelets, ↑ lymphoblasts
100
How is ALL managed?
Specialist-led chemotherapy
101
What is the most common ocular malignancy in children?
Retinoblastoma
102
What is the key clinical sign of retinoblastoma?
Absent red reflex, replaced by a white pupil (leukocoria)
103
What other features may be seen in retinoblastoma?
Vision problems, strabismus (unaligned eyes)
104
How is retinoblastoma diagnosed?
Retinal imaging and/or MRI brain
105
What is the main treatment for retinoblastoma?
Enucleation (eye removal).
Other options include chemotherapy and radiotherapy.
106
What is Wilms’ tumour?
A common childhood kidney tumour (nephroblastoma)
107
What is the average age of presentation for Wilms’ tumour?
3 years old
108
How does Wilms’ tumour typically present?
Unilateral abdominal mass (urgent review in 48h)
painless haematuria, flank pain
fever
anorexia
109
How is Wilms' tumour managed?
Nephrectomy + chemotherapy
110
What is osteogenesis imperfecta (OI)?
A collagen metabolism disorder causing brittle bones and fractures.
111
What type of genetic disorder is OI?
Autosomal dominant (AD).
112
How does OI typically present?
Frequent fractures with minor trauma, blue sclera.
113
What investigations help diagnose OI?
Normal bone profile, normal PTH/ALP.
114
How is OI managed?
Conservative: pain relief
physiotherapy
protective measures.
115
What is Duchenne Muscular Dystrophy (DMD)?
A disorder of dystrophin genes affecting muscle function, linked to dilated cardiomyopathy.
116
What type of genetic disorder is DMD?
X-linked recessive.
117
What are the key features of DMD?
Progressive proximal muscle weakness (from ~5 yo)
calf pseudohypertrophy,
Gower’s sign (using arms to stand up).
118
What investigation confirms DMD?
Genetic testing (↑ CK also seen).
119
What is the management of DMD?
No cure.
Supportive care.
Most patients lose ambulation by 12 years old; life expectancy ~25 years.
120
What is Down Syndrome?
A genetic condition causing dysmorphic features and congenital abnormalities due to Trisomy 21.
121
What are the key clinical features of Down Syndrome?
Hypotonia, brachycephaly
short stature
short neck
prominent epicanthic folds
single palmar crease.
122
What is the first-line antenatal screening for Down Syndrome?
Combined test (11-14 weeks): USS nuchal translucency + B-HCG + PAPP-A.
123
What are the expected combined test results for Down Syndrome?
↑ NT, ↑ B-HCG, ↓ PAPP-A.
124
What diagnostic tests confirm Down Syndrome?
Amniocentesis or chorionic villus sampling (CVS) if high risk.
125
What test is used if a woman books later in pregnancy?
Quadruple test.
126
What is the average life expectancy in Down Syndrome?
~60 years.
127
What specialist management is required for Down Syndrome?
Multidisciplinary team (OT, speech therapy, physio, dietician, doctors, optician, ENT, audiology, cardiologist).
128
What key investigations should be done in children with Down Syndrome?
Echocardiogram, regular thyroid function tests, audiometry
eye tests.
129
What are the most common complications in Down Syndrome?
Cardiac (endocardial cushion defect most common)
GI (duodenal atresia, Hirschsprung’s),
endocrine (hypothyroidism, subfertility)
neuro (learning difficulty, Alzheimer's).
130
What is Marfan Syndrome?
An autosomal dominant connective tissue disorder due to a fibrillin gene mutation.
131
Key features of Marfan Syndrome?
Tall stature
long limbs/fingers, hypermobility
pectus excavatum
pes planus (flat foot).
132
Cardiac complications of Marfan Syndrome?
Aortic sinus dilation (→ aortic dissection, aneurysm, regurgitation), mitral valve prolapse (→ mitral regurgitation).
133
Other complications of Marfan Syndrome?
Pneumothorax.
134
What is Ehlers-Danlos Syndrome?
An autosomal dominant connective tissue disorder affecting type III collagen.
135
Key features of Ehlers-Danlos Syndrome?
Elastic
fragile skin hypermobility
easy bruising.
136
Cardiac complications of Ehlers-Danlos?
Aortic regurgitation, mitral valve prolapse (→ mitral regurgitation), aortic dissection.
137
Neurological complications of Ehlers-Danlos?
Subarachnoid haemorrhage, angioid retinal streaks.
138
Prader-Willi Syndrome key features?
Hypotonia, hypogonadism, obesity.
139
William’s Syndrome key features?
Short stature
learning difficulties, very extroverted/friendly personality.
140
What is Turner Syndrome?
A genetic disorder in females caused by having only one X chromosome (45,X).
141
Key features of Turner Syndrome?
Short stature
webbed neck
wide-spaced nipples, coarctation of the aorta
primary amenorrhoea
ovarian dysgenesis (streak ovaries).
142
What is Klinefelter Syndrome?
A genetic disorder in males due to an extra X chromosome (47,XXY).
143
Key features of Klinefelter Syndrome?
Tall stature, gynaecomastia
small testes
infertility
learning difficulties.
144
Hormonal findings in Klinefelter Syndrome?
↑ LH, ↑ FSH, ↓ Testosterone.
145
What is Androgen Insensitivity Syndrome?
A condition where a genetically male individual (46,XY) is resistant to androgens, leading to female or ambiguous external genitalia.
146
Key features of Androgen Insensitivity Syndrome?
Primary amenorrhoea, normal female phenotype, no uterus/ovaries, undescended testes.
147
Hormonal findings in Androgen Insensitivity Syndrome?
↑ LH, normal or ↑ Testosterone.
148
Drugs that keep heart PDA open?
prostaglandin E2
149
Drugs that close PDA?
ibuprofen or Indometacin
150
What is an exanthem?
An eruptive widespread rash, often caused by viral infections.
151
What are the classic viral exanthems?
First disease – Measles
Third - Rubella
Fifth - Erythema infectiousum (Parovirus B19)
Sixth - Roseola infantum (HHV-6)
152
Why are second and fourth diseases not included in the viral exanthems?
Second disease (Scarlet fever) is bacterial.
Fourth disease (Duke’s disease) is obsolete.
153
What virus causes erythema infectiosum (Fifth disease)?
Parvovirus B19
154
How does erythema infectiosum present?
1. Mild fever, headache
2. Slapped red cheek
3. Pink maculopapular rash spreads to the rest of the body
155
What is a potential complication of Parvovirus B19 infection?
Aplastic crisis, especially in patients with sickle cell disease or hereditary spherocytosis.
156
What virus causes roseola infantum (Sixth disease)?
Human herpes virus 6 (HHV-6)
157
What is the typical age group affected by roseola infantum?
6 months to 2 years
158
How does roseola infantum present?
1. High fever for 3-5 days (can cause febrile seizures)
2. Maculopapular rash appears AFTER fever resolves (rash lasts 1-2 days)
3. Other fearues
-Nagayma spots - papular enathem on uvula and soft palate
-Diarrhoea & cough
159
What is a key distinguishing feature between measles and roseola infantum?
In roseola, the rash appears AFTER the fever resolves.
In measels the rash and feve together
160
What is neonatal sepsis?
A severe reaction to infection in neonates, often presenting with non-specific signs, requiring a low threshold for antibiotic treatment. Can range from subtle signs to severe septic shock.
161
What are the most common causative organisms of neonatal sepsis?
Group B Streptococcus (GBS) and E. coli.
162
What are key risk factors for neonatal sepsis?
Maternal GBS infection (or previous history of GBS in pregnancy), prematurity (<37 weeks), low birth weight (<2.5kg), maternal sepsis, chorioamnionitis, maternal fever >38ºC, and premature or prolonged rupture of membranes.
163
What are the most common presenting symptoms of neonatal sepsis?
Reduced feeding, seizures (if meningitis is present), respiratory distress (most common), tachycardia, apnoea, jaundice, abdominal distension, vomiting, hypotonia (floppy baby), hypoglycaemia, mottled/pale appearance, temperature instability.
164
What signs of respiratory distress can be seen in neonatal sepsis?
Grunting, nasal flaring, intercostal recession, accessory muscle use, tachypnoea.
165
What is the most important investigation for neonatal sepsis?
Blood cultures (most specific and important).
166
What other investigations should be done for neonatal sepsis?
FBC (abnormal neutrophil counts), CRP (to guide management), blood gas (assess respiratory/metabolic status), urine MC&S (rule out UTI), LP (if meningitis suspected).
167
What is the first-line antibiotic management for neonatal sepsis?
IV benzylpenicillin + gentamicin.
168
When should antibiotics be stopped in neonatal sepsis?
At 48 hours if CRP <10 and blood cultures are negative.
169
What supportive management is needed for neonatal sepsis?
Ventilation, oxygen, IV fluids as required.
170
What basic observations should be assessed in an unwell child?
Temperature, heart rate, respiratory rate, capillary refill time, and signs of dehydration (e.g., reduced skin turgor, cool extremities, sunken eyes).
171
How are unwell children risk-stratified?
Into green (low risk), amber (moderate risk), and red (high risk).
172
What is the management for each risk category?
Green → manage at home. Amber → safety netting +/- further assessment. Red → urgent referral to a paediatric specialist.
173
What are the colour red flags for serious illness in a child?
Pale, mottled, or blue skin colour.
174
What are the activity red flags in an unwell child?
Non-responsive or appears unwell to a healthcare professional.
175
What are the respiratory red flags in an unwell child?
Intercostal recession, respiratory rate > 60 breaths per minute.
176
What are the circulatory red flags in an unwell child?
Reduced skin turgor, bradycardia following tachycardia (moderate signs include tachycardia and increased capillary refill time).
177
What temperature is considered a red flag in an infant?
Temperature > 38°C in an infant <3 months old.
178
What is the immediate management for a fever in an infant <3 months?
Urgent IV ceftriaxone + full sepsis screen (blood cultures, bloods, lactate).
179
What are the neurological red flags in a child?
Bulging fontanelle, neck stiffness, seizures, focal neurological signs.
180
What skin sign is a red flag for serious illness?
Non-blanching rash (possible meningococcal sepsis).
181
What causes head lice?
Pediculus capitis (parasitic scalp infection).
182
How is head lice transmitted?
Head-to-head contact.
183
What is the management of head lice?
Malathion and/or wet combing.
184
Who should be treated for head lice?
Only those with lice—household contacts are treated only if lice are found.
185
Should children with head lice be excluded from school?
No, school exclusion is not advised.
186
What causes hand, foot, and mouth disease?
Coxsackie A16 virus or enterovirus.
187
How does hand, foot, and mouth disease present?
URTI prodrome (sore throat, fever, dry cough) → oral ulcers → vesicular rash on palms and soles.
188
How is hand, foot, and mouth disease diagnosed?
Clinically, based on the rash.
189
What is the treatment for hand, foot, and mouth disease?
Supportive—self-limiting condition.
190
Should children with hand, foot, and mouth disease be excluded from school?
No, school exclusion is not required.
191
What causes scarlet fever?
Toxins released by Group A haemolytic streptococci (Streptococcus pyogenes).
192
How is scarlet fever transmitted?
Respiratory droplets (sneezing, coughing).
193
What age group is commonly affected by scarlet fever?
Children aged 2-6 years.
194
What are the key presenting symptoms?
Lethargy, headache, nausea/vomiting, sore throat, strawberry tongue.
195
Describe the rash in scarlet fever.
Fine punctate erythema ('pinhead') rash with a sandpaper texture, often starting on the torso and sparing the face.
196
What differentiates scarlet fever from Kawasaki disease?
Fever in scarlet fever lasts 24-48 hours, whereas Kawasaki fever lasts 5+ days.
197
What investigation is done for scarlet fever?
Throat swab (but do not wait for results to treat).
198
What is the treatment for scarlet fever?
Oral penicillin V for 10 days (azithromycin if allergic).
199
Is scarlet fever a notifiable disease?
Yes.
200
When can a child return to school after starting antibiotics?
24 hours after starting antibiotics.
201
What is cerebral palsy?
A disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain.
202
What are the major causes of cerebral palsy?
Antenatal (80%) - cerebral malformation, congenital infection.
Intrapartum (10%) - hypoxia (Hypoxic-Ischaemic Encephalopathy).
Postnatal (10%) - head trauma, meningitis.
203
What are the classifications of cerebral palsy?
Spastic (70%) - ↑ tone due to UMN damage.
Dyskinetic - athetoid movements & oro-motor problems (basal ganglia damage).
Ataxic - cerebellar damage & signs.
Mixed
204
What are the key clinical features?
Abnormal tone, delayed motor milestones, abnormal gait, feeding difficulties.
205
What associated non-motor issues can develop?
Learning difficulties, epilepsy, hearing issues.
206
What investigation confirms the diagnosis?
Brain imaging - MRI/CT.
207
What is the management for cerebral palsy?
Multidisciplinary team approach - treat symptoms.
208
What are febrile seizures?
Seizures provoked by high temperature in an otherwise normal child, most often brief (<5 min) and tonic-clonic.
209
What is the typical age range for febrile seizures?
6 months - 5 years.
210
What is the pathophysiology of febrile seizures?
Often occur early in viral infections, triggered by fever.
211
What are the classifications of febrile seizures?
Simple: < 15 min, generalised, no recurrence in 24h, full recovery in 1h.
Complex: 15-30, focal, may recur within 24h
Febrile status epilepticus >30 min
212
What investigations should be considered?
FBC & cultures (infection?), LP (CNS infection?), glucose (hypoglycaemia?), CT/MRI (focal or ICP signs, head injury).
213
What are the CT head criteria for paediatric head injuries?
≥ 3 discrete vomiting episodes, LOC > 5 min, amnesia > 5 min, abnormal drowsiness/focal neuro signs, NIA, GCS < 15.
214
When should a child with a febrile seizure be admitted?
If it's their first seizure OR has complex features.
215
What advice should be given to parents?
Call 999 if seizure > 5 min, antipyretics don’t prevent seizures, 1/3 children will have another, rescue benzodiazepines (buccal midazolam/rectal diazepam) may be needed for recurrent seizures.
216
What are the risk factors for developing epilepsy after febrile seizures?
FH of epilepsy, complex febrile seizures, neurodevelopmental disorder.
217
What is the epilepsy risk after febrile seizures?
No risk factors: 2.5%.
All 3 risk factors: 50%
FH of epilepsy, complex febrile seizures, neurodevelopmental disorder.
218
What is the onset age for benign rolandic epilepsy?
4-12 years old, more common in males.
219
When do seizures occur in benign rolandic epilepsy?
At night or as the child wakes up.
220
What is a common feature of benign rolandic epilepsy?
Partial seizures with unilateral face paraesthesia.
221
What is the EEG finding in benign rolandic epilepsy?
Centrotemporal spikes.
222
What is the prognosis for benign rolandic epilepsy?
Most stop by adolescence.
223
What is the onset age for juvenile myoclonic epilepsy?
Teenage years, more common in females.
224
When do seizures occur in juvenile myoclonic epilepsy?
Often in the morning, especially after poor sleep.
225
What is a key feature of juvenile myoclonic epilepsy?
Sudden shock-like myoclonic seizures before a generalised seizure.
226
What is the first-line treatment for juvenile myoclonic epilepsy?
Sodium valproate.
227
What is the onset age for infantile spasms (West's syndrome)?
First few months of life.
228
What is a key feature of infantile spasms (West's syndrome)?
Salaam attack (flexion of head/trunk/limbs followed by arm extension).
229
What is the EEG finding in infantile spasms (West's syndrome)?
Hypsarrhythmia.
230
What is the treatment for infantile spasms (West's syndrome)?
Vigabatrin.
231
What is the prognosis for infantile spasms (West's syndrome)?
Often poor, secondary to neurological abnormalities.
232
What is the onset age for absence seizures?
4-8 years old.
233
How long do absence seizures typically last?
30 seconds.
234
What is the treatment for absence seizures?
Ethosuximide.
235
What is the prognosis for absence seizures?
Most stop by teenage years.
236
What is the most common childhood cancer?
Acute Lymphoblastic Leukaemia (ALL).
237
What is the peak incidence age for Acute Lymphoblastic Leukaemia (ALL)?
2-5 years old.
238
What are common symptoms of Acute Lymphoblastic Leukaemia (ALL)?
Lethargy, pallor (anaemia), frequent infections (neutropaenia), bruising, non-blanching petechiae, fever, hepatosplenomegaly.
239
What are typical findings in FBC for Acute Lymphoblastic Leukaemia (ALL)?
↓ Hb, ↓ neutrophils, ↓ platelets, ↑ lymphoblasts.
240
What is the treatment for Acute Lymphoblastic Leukaemia (ALL)?
Specialist-led chemotherapy.
241
What is the most common ocular malignancy in children?
Retinoblastoma.
242
What is the typical age for diagnosis of Retinoblastoma?
Average age is 18 months.
243
What is a key sign of Retinoblastoma?
White pupil (leukocoria), replacing the red reflex.
244
What other features may be seen in Retinoblastoma?
Vision problems, strabismus (unaligned eyes).
245
What is the treatment for Retinoblastoma?
Enucleation (removal of eye), chemotherapy, radiotherapy.
246
What is the survival rate for Retinoblastoma?
90% survival rate.
247
What is the common age of presentation for Wilm's tumour (Nephroblastoma)?
Around 3 years old.
248
What is the most common feature of Wilm's tumour (Nephroblastoma)?
Unilateral abdominal mass (urgent review in 48 hours).
249
What other symptoms may be present in Wilm's tumour (Nephroblastoma)?
Painless haematuria, flank pain, fever, anorexia.
250
What is the treatment for Wilm's tumour (Nephroblastoma)?
Nephrectomy (surgical removal of kidney) + chemotherapy.
251
What is the survival rate for Wilm's tumour (Nephroblastoma)?
80% survival rate.
252
What is Osteogenesis Imperfecta?
Brittle bone disease caused by a collagen metabolism issue leading to fragility and fractures.
253
What type of genetic disorder is Osteogenesis Imperfecta?
Autosomal Dominant (AD).
254
What are common features of Osteogenesis Imperfecta?
Minor trauma leading to fractures, blue sclera.
255
What are typical findings in the investigations for Osteogenesis Imperfecta?
Normal bone profile, normal PTH/ALP.
256
What is the management for Osteogenesis Imperfecta?
Protective/conservative approach, including pain relief and physiotherapy.
257
What is Duchenne Muscular Dystrophy?
A disorder of dystrophin genes required for normal muscular function, often associated with dilated cardiomyopathy.
258
What type of genetic disorder is Duchenne Muscular Dystrophy?
X-linked recessive.
259
What are the features of Duchenne Muscular Dystrophy?
Progressive proximal muscle weakness (often starting around 5 years old), calf pseudohypertrophy, Gower's sign (child uses arms to stand from a squatted position).
260
What is the investigation for Duchenne Muscular Dystrophy?
Genetic testing, elevated CK levels.
261
What is the management for Duchenne Muscular Dystrophy?
No cure/treatment, typically unable to walk by 12 years old, average life expectancy to 25 years.
262
What is Down's Syndrome?
A genetic condition that leads to dysmorphic features and associated congenital abnormalities, caused by Trisomy 21.
263
What are the clinical features of Down's Syndrome?
Hypotonia, brachycephaly, short neck, short stature, prominent epicanthic folds, single palmar creases.
264
What is the first-line investigation for Down's Syndrome during pregnancy?
Combined test (USS nuchal translucency, B-HCG, PAPP-A) between 11-14 weeks.
265
What are the common cardiac complications in Down's Syndrome?
Endocardial cushion defect (most common, 40%), VSD, ASD, Tetralogy of Fallot, PDA.
266
What is the average life expectancy for individuals with Down's Syndrome?
60 years.
267
What is the management approach for Down's Syndrome?
Multidisciplinary team management (OT, speech therapy, physio, dietician, doctors, optician, ENT, cardiologist), regular checks for thyroid, audiometry, and eye tests.
268
What are common gastrointestinal complications in Down's Syndrome?
Duodenal atresia, Hirschsprung's disease.
269
What are common endocrine issues in Down's Syndrome?
Hypothyroidism, subfertility.
270
What are the neurodevelopmental concerns in Down's Syndrome?
Learning difficulty, Alzheimer's disease.
271
What is Marfan Syndrome?
An autosomal dominant condition due to fibrillin gene mutation, leading to connective tissue disease.
Features include tall stature, long neck/limbs/fingers, hypermobility, pectus excavatum, and pes planus.
272
What are the complications of Marfan Syndrome?
Pneumothorax
mitral valve prolapse (mitral regurgitation)
aortic sinus dilation (leading to aortic dissection, aneurysm, or regurgitation).
273
What is the key sign for diagnosing Marfan Syndrome?
Very tall or hypermobile with a mitral or aortic murmur.
274
What is Ehlers-Danlos Syndrome?
An autosomal dominant connective tissue disorder affecting type III collagen, leading to elastic, fragile skin, joint hypermobility, and easy bruising.
275
What are the complications of Ehlers-Danlos Syndrome?
Aortic regurgitation, mitral valve prolapse (mitral regurgitation)
aortic dissection
subarachnoid haemorrhage
angioid retinal streaks.
276
What is the key sign for diagnosing Ehlers-Danlos Syndrome?
Hypermobile joints with elastic, fragile skin.
277
What is Prader-Willi Syndrome?
A genetic disorder characterized by hypotonia, hypogonadism, and obesity.
278
What is Williams Syndrome?
A genetic condition with features including short stature, learning difficulties, and a very extroverted/friendly personality.
279
What is micrognathia?
A condition where the jaw is small or underdeveloped.
280
What does cephalic refer to?
Referring to the head or skull.
281
Patau syndrome (trisomy 13)
Microcephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions
282
Edward's syndrome (trisomy 18)
Micrognathia, low-set ears, rocker bottom feet, overlapping fingers
283
Fragile X
Learning difficulties, macrocephaly, long face, large ears, macro-orchidism
284
Noonan syndrome
Webbed neck, pectus excavatum, short stature, pulmonary stenosis
285
Pierre-Robin syndrome
Micrognathia, posterior displacement of tongue (may cause airway obstruction), cleft palate
286
Prader-Willi syndrome
Hypotonia, hypogonadism, obesity
287
William's syndrome
Short stature, learning difficulties, friendly/extrovert personality, transient neonatal hypercalcaemia, supravalvular aortic stenosis
288
Cri du chat syndrome (5p deletion)
Characteristic cry (larynx/neurological problems), feeding difficulties, learning difficulties, microcephaly, micrognathism, hypertelorism
289
Turner's syndrome (45,X)
Short stature, webbed neck, low-set ears, broad chest, shield-shaped chest, primary amenorrhea, infertility
290
Klinefelter's syndrome (47,XXY)
Tall stature, long limbs, small testes, gynecomastia, learning difficulties, infertility
291
Androgen Insensitivity Syndrome
XY chromosomes but female phenotype, absent or sparse pubic/axillary hair, undescended testes, normal female external genitalia, primary amenorrhea
292
What is bronchiolitis?
Most common infant LRTI, characterized by acute bronchial inflammation.
293
What is the most common cause of bronchiolitis?
Respiratory syncytial virus (RSV) (75% of cases). Other causes: adenovirus, mycoplasma.
294
What age group is affected?
90% of cases occur in <1-year-olds. If >1 year = viral-induced wheeze.
295
When is bronchiolitis most common?
Winter months.
296
What are risk factors for severe bronchiolitis?
Congenital heart disease, cystic fibrosis, bronchopulmonary dysplasia (chronic lung disease in preterm infants).
297
What are the clinical features of bronchiolitis?
Coryzal prodrome (mild fever, clear secretions, snotty nose), cough (wet or dry), poor feeding.
298
What are the key respiratory signs on examination?
Respiratory distress (↑RR, intercostal recession, nasal flaring, accessory muscle use), wheeze, fine inspiratory crackles (not always present).
299
How is bronchiolitis diagnosed?
Clinical diagnosis, assess oxygen saturations, PCR of secretions if needed.
300
What is the management of bronchiolitis?
Supportive – oxygen if required, NG feeding if poor feeding. Hospital admission if sats persistently low or severe symptoms.
301
When should bronchiolitis be referred as an emergency (999)?
Apnoea, severe respiratory distress (e.g., grunting, RR >70), persistent sats <92%.
302
What is croup?
A common URTI in infants causing stridor due to laryngeal oedema and secretions. Most common in autumn.
303
What is the most common causative organism?
Parainfluenza viruses.
304
What age group is affected?
6 months – 3 years.
305
What are the clinical features of croup?
Coryzal symptoms, fever, ↑ work of breathing (SOB, ↑RR, intercostal recession, nasal flaring, accessory muscle use).
306
What are the characteristic symptoms of croup?
Stridor (do not examine throat), barking “seal-like” cough (worse at night).
307
What investigations are needed?
Clinical diagnosis. DO NOT EXAMINE THE THROAT (risk of obstruction). CXR may show subglottic narrowing.
308
What is the first-line treatment for croup?
Single dose of oral dexamethasone (0.15 mg/kg).
309
When should a child with croup be admitted?
<3 months old, stridor at rest, respiratory distress, tachycardia.
310
What is the emergency management for airway obstruction?
Oxygen + nebulised adrenaline.
311
What is whooping cough?
A bacterial infection caused by Bordetella pertussis. Notifiable disease. Also called the "cough of 100 days".
312
What are the key clinical features?
1-2 weeks coryzal symptoms, followed by persistent cough (>2 weeks) with coughing bouts + inspiratory whoop. Worse at night/after feeding. May cause vomiting/apnoea in infants.
313
How long can the cough last?
Up to 3-4 months.
314
How is whooping cough diagnosed?
Nasal swab culture or PCR.
315
What is the preventive measure?
Routine immunisation at 2, 3, 4 months + booster at 3-5 years.
316
What is the first-line treatment?
Macrolide antibiotics (clarithromycin, azithromycin, erythromycin) if cough < 21 days.
317
Who else should be treated?
Household contacts - antibiotic prophylaxis.
318
What are the complications?
Subconjunctival haemorrhage (from coughing), secondary pneumonia.
319
What is Neonatal Respiratory Distress Syndrome (NRDS)?
A respiratory condition in pre-term neonates due to insufficient surfactant production.
320
What is the pathophysiology?
Surfactant deficiency → alveolar collapse → poor gas exchange → respiratory distress.
321
At what gestation is enough surfactant produced?
Around 34 weeks.
322
What are the risk factors?
Pre-term birth (<34 weeks), male baby, diabetic mother, C-section, twins.
323
When do symptoms appear?
Within minutes/hours of birth.
324
What are the clinical features?
Respiratory distress signs: ↑ RR, intercostal recession, grunting, nasal flaring, accessory muscle use, cyanosis.
325
What condition mimics NRDS but resolves in 24-48 hours?
Transient tachypnoea of the newborn (TTN).
326
What condition mimics NRDS but occurs in post-term babies?
Meconium aspiration syndrome.
327
What is the characteristic CXR finding in NRDS?
Atelectasis + ground-glass opacity + indistinct heart border.
328
What is the prevention for NRDS?
Maternal corticosteroids if delivery <36 weeks.
329
What is the management of NRDS?
Oxygen, NIV → if severe, intubation + surfactant via endotracheal tube.
330
What is Cystic Fibrosis (CF)?
Autosomal recessive disorder causing thick, sticky secretions and recurrent infections.
331
What gene is affected in CF?
CFTR gene mutation.
332
What is the most common CFTR mutation in the UK?
Delta F508 mutation (80%).
333
What is the main pathogenic mechanism?
Defective chloride channels → thickened mucus secretions.
334
Which pathogens commonly colonise CF lungs?
Staphylococcus aureus, Pseudomonas aeruginosa, Aspergillus, Burkholderia cepacia.
335
What is the neonatal presentation of CF?
Meconium ileus (no meconium in 24h + abdominal distension + bilious vomiting).
336
What are the common respiratory features?
Recurrent chest infections, chronic cough, nasal polyps, bronchiectasis.
337
What are the gastrointestinal features?
Steatorrhoea (fatty, bulky stools), failure to thrive, pancreatic insufficiency.
338
What other systemic features are associated?
Short stature, diabetes, delayed puberty, rectal prolapse.
339
What is the first-line diagnostic test?
Newborn heel prick test.
340
What is the confirmatory test?
Sweat test (Cl⁻ > 60 mmol/L).
341
How is CF managed?
MDT approach: chest physio, high-calorie/high-fat diet, pancreatic enzymes, infection control.
342
What is the long-term treatment for end-stage CF lung disease?
Lung transplant (contraindicated if Burkholderia cepacia infection).
343
What is the targeted therapy for F508 homozygous CF?
Lumacaftor/Ivacaftor (Orkambi).
344
What is paediatric pneumonia?
Lower respiratory tract infection (LRTI) in children.
345
What is the most common bacterial cause?
Streptococcus pneumoniae.
346
What is the most common pathogen in neonates?
Group B Streptococcus (GBS).
347
What is the most common atypical cause?
Mycoplasma pneumoniae.
348
What are the key clinical features?
Coryzal symptoms, high fever, respiratory distress, poor feeding, coarse crackles, bronchial breathing.
349
What is the 1st-line antibiotic for typical pneumonia?
Amoxicillin.
350
What is the 2nd-line treatment or when atypical pneumonia (Mycoplasma) is suspected?
Add a macrolide (e.g., azithromycin, clarithromycin, erythromycin).
351
What antibiotic is used if pneumonia is associated with influenza?
Co-amoxiclav.
352
How is asthma diagnosed in children under 5 years old?
Clinical diagnosis with trial of treatment and regular review.
353
What is the first-line diagnostic test for asthma in children aged 5-16 years?
FeNO > 35 ppb (Fractional Exhaled Nitric Oxide).
354
What is the second-line test for asthma in children aged 5-16 years?
Spirometry with bronchodilator reversibility – a FEV1 increase of >12% after bronchodilator use.
355
When should spirometry be performed instead of FeNO?
If FeNO is negative or unavailable.
356
What is the third-line test for asthma in children aged 5-16 years?
Peak Expiratory Flow Rate (PEFR) variability > 20%.
357
What is the initial management of asthma in children under 5 years old?
PRN SABA + 8-12 week trial of BD low-dose ICS.
358
What happens if symptoms improve on ICS trial in a child <5 years old?
Consider stopping treatment after 8-12 weeks. Restart if symptoms return, increasing to moderate-dose ICS +/- LTRA if needed.
359
What happens if there is no improvement on an ICS trial in a child <5 years old?
Refer to a specialist.
360
What is the initial management of asthma in children aged 5-16 years?
PRN SABA + low-dose ICS.
361
What is the preferred escalation pathway for children aged 5-16 years?
MART (Maintenance and Reliever Therapy) – low-dose MART (ICS + LABA regularly + PRN), then medium-dose MART.
362
If MART is not suitable, what are the stepwise additions for 5-16 years?
1. Add LTRA (Montelukast). 2. Switch to low-dose ICS/LABA combination. 3. Increase to medium-dose ICS/LABA combination.
363
When should a child be referred to a specialist for asthma?
If not controlled on medium-dose ICS/LABA combination.
364
What oxygen saturation level suggests severe or life-threatening asthma in children?
Sats <92%. Always life-threatening in adults.
365
What is the first-line treatment for acute asthma in children?
Salbutamol via spacer (1 puff every 30-60s, up to 10 puffs).
366
When should a child with acute asthma be sent to hospital?
If not controlled after 10 puffs of SABA.
367
What additional treatment is given to all children with acute asthma?
Oral prednisolone for 3-5 days.
368
What is biliary atresia?
A condition caused by obstruction in bile flow due to obliteration, blockage, or discontinuity of the extrahepatic biliary tree. Most commonly seen in neonates.
369
When does biliary atresia typically present in neonates?
It is typically seen in perinatal (0-2 weeks) or postnatal (2-8 weeks) periods.
370
What is type 1 biliary atresia?
Common duct obliterated.
371
What is Type 2 Biliary atresia?
Cystic duct narrowing.
372
What is Type 3 biliary atresia?
Right/left hepatic ducts narrowing (accounts for 90% of cases).
373
When do symptoms of biliary atresia typically develop?
Symptoms usually develop in the first few weeks of life.
374
What are the typical presenting complaints (PC) of biliary atresia?
Poor feeding and failure to thrive.
375
What are the clinical signs (O/E) associated with biliary atresia?
Prolonged jaundice (more than 2 weeks), dark urine, pale stools, and hepatosplenomegaly.
376
What are the typical LFT findings in biliary atresia?
Normal total bilirubin, but conjugated bilirubin is significantly elevated (↑↑↑).
377
What additional investigations should be considered?
Consider serum alpha 1-antitrypsin (to rule out deficiency), sweat test (to rule out CF), and USS biliary tree.
378
What is the first-line management for biliary atresia?
Surgical intervention (such as the Kasai procedure).
379
What is the prognosis for biliary atresia with early surgical intervention?
If treated early, the prognosis is generally good. If surgery fails, a liver transplant may be required.
380
What is pyloric stenosis?
A neonatal condition (2-4 weeks old) characterized by projectile vomiting. Rarely, it may present up to 4 months of age.
381
What is the pathophysiology of pyloric stenosis?
Hypertrophy of the pyloric circular muscles causes narrowing of the opening from the stomach to the duodenum.
382
What are the risk factors for pyloric stenosis?
- Male babies (4x more common)
- Family history
- First-born children
383
What are the clinical features of pyloric stenosis?
PC: Projectile vomiting (non-bilious) shortly after feeding
+/- Constipation and dehydration if feeding is poor
O/E: +/- Palpable upper abdominal mass (often described as an "olive-like" mass in the upper abdomen)
384
What investigations are used to diagnose pyloric stenosis?
- Ultrasound (USS) for diagnosis
- U&Es showing hypochloraemic, hypokalaemic alkalosis due to vomiting
385
What is the treatment for pyloric stenosis?
Surgical treatment: Ramstedt pyloromyotomy to open a channel from the stomach to the duodenum.
386
What is intussusception?
A gastrointestinal condition characterized by invagination (folding) of the bowel into the lumen of adjacent bowel.
387
Where is intussusception most common?
Most common in the ileo-cecal region.
388
What are the risk factors for intussusception?
Male babies (2x more common in males).
389
What are the clinical features of intussusception?
PC:
- Intermittent severe crampy abdominal pain
- During episodes, the baby draws knees to chest
- Progressive pain
- Inconsolable crying
- Vomiting
O/E:
- Blood (red-currant jelly) stool (late sign)
- Sausage-shaped abdominal mass
390
What are the differential diagnoses for intussusception?
- Billious vomiting + obstruction (distention) → Intestinal malrotation (treated with LADS)
- Billious vomiting right after birth → Duodenal atresia
391
What investigations are used for intussusception?
- Abdominal USS: Shows a target-shaped mass.
392
What is the treatment for intussusception?
1st line: Reduction by air insufflation under radiological control.
If worsening (peritonism) or failure, surgical correction is required.
393
What is cow's milk protein allergy (CMPA)?
An allergy or intolerance to cow’s milk protein, nearly always seen in formula-fed infants, typically diagnosed between 3-6 months.
394
What is the pathophysiology of CMPA?
It can involve both immediate (IgE-mediated) and non-immediate (non-IgE mediated) reactions.
395
What are the clinical features of CMPA?
PC:
- Regurgitation and vomiting leading to failure to thrive
- Diarrhoea (bloody or non-bloody)
- Allergy symptoms like urticaria and atopic eczema
- Irritability and crying (colic)
O/E:
- If severe, may present with angioedema and anaphylaxis.
396
What are the differential diagnoses for CMPA?
- Infantile colic: Crying worse in the evening, not associated with food time (typically < 3 months).
- GORD: Hard to feed, presents in the first few weeks with milky regurgitation. Resolves by 1 year with treatment (thickener + lifestyle changes).
397
What investigations are used for CMPA?
Often a clinical diagnosis: Improvement on removal of cow’s milk.
Other tests include:
- Skin prick/patch testing
- Total IgE and specific IgE (RAST) for cow's milk protein.
398
What is the management for CMPA?
- Formula-fed infants: Extensive hydrolysed formula (eHF) milk alternative.
- Breastfed infants: Eliminate milk from the maternal diet and prescribe calcium supplements. Give eHF milk to the baby when transitioning off breast milk for at least 6 months.
399
What is the prognosis for CMPA?
- IgE-mediated: 55% become tolerant by 5 years old.
- Non-IgE-mediated: Most become tolerant by 3 years old.
400
What is Hirschsprung's disease?
A rare GI condition where the parasympathetic plexuses lack ganglions, leading to constipation.
401
What are the risk factors for Hirschsprung's disease?
- Down's syndrome
-Male gender
402
What are the clinical features of Hirschsprung's disease?
PC:
- Neonates: Failure to pass meconium.
- Infants: Constipation with or without distention.
403
What investigations are used for diagnosing Hirschsprung's disease?
- AXR (Abdominal X-ray)
- 1st line: Rectal biopsy.
404
What is the management for Hirschsprung's disease?
- Initial: Rectal/bowel washout to relieve constipation.
- Definitive: Surgical removal of the affected part of the colon.
405
What is Meckel's diverticulum?
A congenital diverticulum (outpouching) of the small intestine. It is usually asymptomatic.
406
What is the "Rule of 2" in Meckel's diverticulum?
- 2% of the population.
- 2 feet from the ileocecal valve.
- 2 inches long.
- Most often presents in children <2 years old.
407
What are the clinical features of Meckel's diverticulum?
PC:
- Abdominal pain (similar to appendicitis, from umbilical to RIF).
- Rectal bleeding: Painless, bright red, massive PR bleed in 1-2 year olds.
- Intestinal obstruction: Hemodynamic instability, nausea/vomiting, distention, severe pain.
408
What investigations are used to diagnose Meckel's diverticulum?
- 1st line: Technetium scan.
409
What is the management for Meckel's diverticulum?
- If symptomatic: Surgical removal of the diverticulum.
- If asymptomatic: Conservative management.
410
What is necrotizing enterocolitis (NEC)?
A serious acute neonatal GI condition characterized by bowel necrosis.
411
What are the initial clinical features of NEC?
- Abdominal distention.
- Poor feeding
- PR Bleed
- Vomiting
412
What happens if NEC progresses?
- Perforation leading to shock/DIC.
413
What are the findings on an abdominal X-ray for NEC?
- Pneumatosis intestinalis (intramural gas).
- Dilated bowel loops
- If perforated:Pneumoperitoneum and/or Rigler's sign (air in and out of bowel loop).
414
What is the management for NEC?
- Decompress with an NG tube.
- Start IV ABX
- Stop feeds
- If worse consider laparotoomy
415
What is gastroesophageal reflux (GERD) in infants?
The most common cause of vomiting in children, with some regurgitation being expected in infants.
416
What are the risk factors for GERD in infants?
- Pre-term birth.
- Neuro conditions
417
When do clinical features typically appear?
In the first 8 weeks of life.
418
What are the clinical features of GERD?
PC:
- Vomiting/regurgitation after feeding (milky appearance).
- Difficulty feeding (crying/agitation).
419
What investigations are needed for GERD?
Typically clinical diagnosis with no specific tests required.
420
What is the management for GERD in infants?
- Self-limiting: Usually improves by 6 months to 1 year.
Advice:
- Avoid over feeding
- Keep infant at a 30 degree include during feeding
- Sleep on back
Medical management:
- Breastfed infants: Trial alginate (e.g., Gaviscon).
- Formula-fed infants: Trial thickened formula.
- Consider PPI (omeprazole) if severe distress, failure to thrive, or oesophagitis present.
421
What is constipation in children?
Defined as having fewer than 3 stools per week.
422
What are the classifications and differential diagnoses (DDx) for constipation in children?
- Idiopathic (most cases).
- Behavioural: Often occurs after a painful bowel episode or due to voluntary bowel control (around 3 years old).
- Dietary: Low fluid or fibre intake, transition to solids.
- Organic causes: Hypothyroidism, Hirschsprung's disease, coeliac disease, inflammatory bowel disease (IBD), anal ring stenosis, hypercalcaemia.
423
What are red flags suggesting a non-idiopathic cause of constipation?
- Ribbon stools.
- Generalized abdominal distension.
- Issues with growth.
424
What other clinical features may be present in constipation?
- PR bleed (possible anal fissure).
- Abdominal pain and mass.
- Recurrent UTI (due to mass compressing urinary tract).
425
What might be found on examination of a child with constipation?
- Overflow diarrhoea.
- Severe symptoms.
- Palpable faecal mass on abdominal exam.
426
What investigations are used in constipation?
- Abdominal X-ray (AXR).
-PR Exam
- U&E
427
What is the first-line treatment for constipation in children?
- Macrogol (Movicol Paediatric) as a laxative.
- If faecal impaction is present, start with escalating doses before moving to maintenance doses.
428
What is the second-line treatment for constipation?
- Stimulant laxative (e.g., Senna).
429
What should parents be warned about when using laxatives?
- Laxatives may cause abdominal pain and increase the risk of soiling.
- Gradually wean the dose after success.
430
What is infective gastroenteritis?
Infective-induced inflammation of the GI tract, commonly causing diarrhoea and vomiting, with dehydration as the main complication. Most often caused by viral infections.
431
What are the common organisms causing infective gastroenteritis?
- Rotavirus (60%) – causes most cases; preventable with the oral, live attenuated vaccine at 2 and 3 months.
- Norovirus
- Adenovirus - can cuse sub acute diarrhoea
432
What are the clinical features of infective gastroenteritis?
- PC (Presenting Complaints): Sudden onset nausea and vomiting (1-2 days), diarrhoea (up to 5-7 days), fever, bloody stools (suggests bacterial cause).
- O/E (On Examination): Dehydration (reduced skin turgor, cool extremities, sunken eyes, ↓ urine output, tachycardia, tachypnoea, dry skin, pale).
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What are the differential diagnoses for gastroenteritis?
- Coeliac disease
-I nflammatory bowel disease (IBD)
- Cystic fibrosis (CF)
- Irritable bowel syndrome (IBS)
- Cow milk protein intolerance.
434
What investigations are used in diagnosing gastroenteritis?
- U&Es (urea and electrolytes) and hydration status exam to assess dehydration severity.
- Consider stool culture, especially in cases with foreign travel, PR blood, mucous in stool, or signs of sepsis.
435
What is the management for gastroenteritis?
- Supportive treatment:
- For dehydration: continue usual fluids and breastfeeding (if applicable), and administer 50 ml/kg of ORS (oral rehydration solution).
- If shock is present, administer IV fluid rehydration.
436
How are IV fluids calculated for infants with gastroenteritis?
- Bolus: 10 ml/kg over <10 minutes.
- Maintenance:
- First 10 kg (0-10 kg): 100 ml/kg.
- Next 10 kg (10-20 kg): 50 ml/kg.
- Any weight above 20 kg: 20 ml/kg.
437
What is the formula to calculate replacement fluids for dehydration?
- Volume (mls) = Dehydration % x weight (kg) x 10.
- Example: A 23 kg child with 6% dehydration requires 1380 ml, which is then added to the maintenance fluids to determine the total fluid requirement for the next 24 hours.
438
What is a urinary tract infection (UTI) in children?
A common cause of infection in children, often presenting with fever. It is essential to investigate UTIs, especially in the presence of fever.
439
What is the most common organism causing UTI in children?
E. coli (80%).
440
What are the risk factors for UTIs in children?
- Infrequent voiding
-Low fluid intake
- Obstruction - often secondary to constipation
- Previous UTI
- Vesicoureteric reflux
- Not circumcised
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What are the clinical features of UTI in infants and older children?
- Infants: Non-specific symptoms, including fever, lethargy, irritability, vomiting, poor feeding, and urinary frequency.
- Older children: Similar to adults, including fever, suprapubic pain, dysuria, urinary frequency, and incontinence (bed-wetting).
- If the temperature > 38°C and loin pain present, consider pyelonephritis (upper UTI).
442
What investigations are used to diagnose UTI in children?
- Urine dipstick if UTI symptoms or unexplained fever > 38°C.
- Positive Nitrites and Leukocytes on dipstick are indicative of UTI.
- If positive, send for Midstream urine culture (MS&C).
443
What is the management for UTI in children?
- <3 months old: Referral to paediatrics.
- Lower UTI: Trimethoprim or Nitrofurantoin for 3 days.
- Upper UTI (pyelonephritis): Co-amoxiclav for 7-10 days + hospital admission.
444
What should be done for recurrent UTIs in children?
- <6 months old: Perform abdominal USS within 6 weeks of a recurrent UTI.
- For recurrent/atypical bacteria/VUR family history, perform Micturating Cystourethrogram (MCUG) to check for VUR.
- After recurrent/atypical UTIs, perform Dimercaptosuccinic Acid (DMSA) scan to check for scarring, at least 4-6 months after the UTI.
