Paediatrics Flashcards
(512 cards)
1
Q
Describe the process of immunisation.
A
Procedure generating immunity without complications of natural infection via administering a vaccine, generating immunity without harm.
2
Q
What types of vaccines are there?
A
Whole organism
Isolated antigenic components (HPV; Shingles; HBV; Pertussis; HiB)
Live attenuated (MMR; BCG; Chickenpox; Nasal influenza; Rotavirus)
Inactivated toxins (DT)
3
Q
Compare and contrast the benefits and drawbacks to vaccinations,
A
Protect from disease: Eradicate/Eliminate disease
Prevent spread of disease
Safe + effective
Time-effective + Cheaper cf hospital care
Parental autonomy Side effects Ethnoreligious beliefs?
4
Q
A mother to a newborn is curious regarding the vaccines. Outline the vaccine schedule for children.
A
2 months:
- 6-in-1 (DTP; Pertussis; HiB; HBV)
- Men B
- Rotavirus
3 months:
- 6-in-1 (DTP; Pertussis; HiB; HBV)
- Pneumococcal
- Rotavirus
4 months:
- 6-in-1 (DTP; Pertussis; HiB; HBV)
- Men B
1 year: HiB/MenC MMR PCV MenB
2-11 years:
- Nasal Flu
Teenage:
- HPV
- DTP
- MenACWY
5
Q
What vaccines will a child receive at 2 months?
A
- 6-in-1
- Men B
- Rotavirus
6
Q
What vaccines will a child receive at 3 months?
A
3 months:
- 6-in-1 (DTP; Pertussis; HiB; HBV)
- Pneumococcal
- Rotavirus
7
Q
What vaccines will a child receive at 4 months in the UK?
A
4 months:
- 6-in-1 (DTP; Pertussis; HiB; HBV)
- Men B
8
Q
What vaccines will a child receive at 1 year?
A
- 2-in-1 (Hib/MenC)
- Men B
- MMR
- Pneumococcal
9
Q
What strain of HPV is the vaccine against?
A
Strains 6, 11, 16 and 18
10
Q
Which strains of HPV cause cervical cancer?
A
HPV-11 and HPV-16
11
Q
How do you take a paediatric history?
A
PC
HPC
BFG-D:
- Birth: pregnancy complications; scans; delivery; neonatal care
- Feeding: Diet/Appetite/ Toileting
- Growth: weights/milestones
- Development: Milestones; Schooling and attendance; friends/social
DHx + Allergies
FHx
SHx
ICE
SE
12
Q
How do you examine a child?
A
A-E assessment
13
Q
State the commonly tested reflex tests for neonates.
A
Moro Reflex (Mor-Oh startle reflex)
Napier Reflex (fencing)
Stepping Reflex
Positive support Reflex (attempts to stand)
Babinski (elicits extension)
Galant (lateral flexion)
Landau Reflex (looking at the ‘Land’)
14
Q
What is the mean age for a child to roll over?
A
3 months
15
Q
What is the mean age for a child to reach out?
A
3 months
16
Q
What is the mean age for a child to sit unsupported?
A
6 months
17
Q
What is the mean age for a child to walk unsupported?
A
12 months
18
Q
What is the mean age for a child to hop on one foot?
A
3.5 years
19
Q
What is the mean age for a child to ride a tricycle?
A
3 years
20
Q
What is the mean age for a child to have a pincer grip?
A
8 months
21
Q
What is the mean age for a child to eat with a spoon?
A
12-21 months
22
Q
What is the mean age for a child to tie their shoelaces?
A
5 years old
23
Q
What is the mean age for a child to respond to a smile?
A
6 weeks
24
Q
What is the mean age for a child to play in a group?
A
3 years
25
What are the vital ranges for HR and RR in a neonate?
120-160
30-60
26
What are the vital ranges for HR and RR in a child 1-2 years?
90-150
24-40
27
What are the vital ranges for HR and RR in a child 2-5 years old?
80-140
22-34
28
What are the vital ranges for HR and RR in a child 6-12 years old?
70-120
18-30
29
What are the clinical features in hypoxic ischaemic encephalopathy?
Irritable
Increased tone
Increased reflexes
Poor feeding
Lethargy
Seizure
Coma
Absent reflexes
Prolonges seizures
Multi-organ failure
30
What scoring system can be used for a neonate shortly after birth?
Outline it
APGAR Score (1 min and 5 mins)
Appearance: Pink/Blue extremities/ Pale or blue
Pulse: >100bpm; <100bpm; none
Grimace: Cries; weak cry; no response
Activity: Active; arms and legs flexed; none
Respiration: Strog cry; slow and irregular; no breathing
<7 is not normal
31
How do you manage hypoxic ischaemic encephalopathy?
Supportive: SCBU/ITU; Paeds involvement; Resuscitation; Therapeutic hypothermia (33-34C)
+
Anti-convulsants: Phenytoin
32
What is the cause of Respiratory Distress Syndrome in Neonates?
Inadequate levels of pulmonary surfactant leading to high surface tension alas atelectasis resulting in inadequate GE and hypoxia, hypercapnia and respiratory distress
33
How can you manage a neonate with respiratory distress syndrome?
Supportive: A-E; Oxygen; Endotracheal surfactant; CPAP (NIV) or Intubation
+
Steroids: Dexamethasone
34
Outline the complications of respiratory distress syndrome in the neonate?
```
Short-term:
Pneumothorax
Infection
Intraventricular haemorrhage
Pulmonary haemorrhage
Necrotising enterocolitis
```
Long-term
Chronic lung disease of prematurity
Retinopathy of prematurity
Neurological, hearing and visual impairment
35
What are some of the potential causes of Respiratory Distress in the neonate?
Prematurity
Transient Tachypnoea of the newborn
Meconium aspiration
Pneumonia
Pneumothorax
Diaphragmatic hernia
36
Outline the clinical features of respiratory distress syndrome in a neonate?
* RR>60
* Grunting
* Intercostal/subcostal recession
* Nasal flaring
* Cyanosis
37
What is a premature baby?
<36 weeks
38
A mother is worried about the potential complications of prematurity. What are these?
Respiratory distress syndrome
Patent Ductus Arterious
Necrotising enterocolitis
Retinopathy of prematurity
Intraventricular haemorrhage
39
Why does normal labour and delivery lead to hypoxia?
During contractions, the myometrium is squeezes which results in constriction of blood supply to the placenta thus hypoxia. However, extended hypoxia will result in bradycardia and potential reduction in respiratory effort which may progress to hypoxic ischaemic encephalopathy (HIE)
40
Outline the principles of neonatal resuscitation.
Warm the baby (dry them, keep under heat lamp)
Calculate Apgar score
Stimulate breathing
Supportive: reheat (dry, heat lamp, wrap); Apgar score; neutral position; A-E (inflation breaths 2-5; ventilation (NIV or intubation); therapeutic hypothermia (33-34C)
41
Describe the process of placental transfusion. What may the negatives be?
Delayed cord clamping allowing foetal blood to enter circulation
Negative effect is potential neonatal jaundice - Tx w/ Phototherapy.
42
What cells produce surfactant?
Type II alveolar cells
43
Explain how surfactant enables the first breath.
Pulmonary surfactant sits above water in the lungs with a hydrophilic side facing water and a hydrophobic side facing the air to reduce surface tension and facilitate lung expansion, reducing the force required to expand the alveoli thus increasing compliance
44
Outline the process of foetal heart shunt closure.
During the first breath which expands alveoli, pulmonary vascular resistance drops which causes a fall in RA thus LA > RA which results in a functional closure of the foramen ovale to become the fossa ovalis
45
Outline the process by which the ductus arteriosus closes.
Should it fail to close, what clinical sign is heard and how can you manage this?
Increased blood oxygenation results in a reduction in prostaglandins which causes closure of the ductus arteriosus and become the ligamentum arteriosum.
Should this not close, a continuous machinery murmur is heard at the upper left sternal border.
Treat with Indometacin (PGE inhibitor)
46
Outline the standard care after birth for a neonate.
Skin to skin contact (warm baby, interaction, calm, breast feeding)
Vitamin K IM
Blood spot screening (4 separate drops on day 5 via heel prick test)
47
What conditions are screened for on blood spot screening?
```
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric aciduria type 1 (GA1)
Homocystin
```
48
When would you conduct a neonatal exam?
Describe how you would conduct a neonatal examination.
72 hours
6-8 weeks
Conducting a neonatal examination:
1) Introduction
2) Explain procedure
3) Gain consent
4) Screening questions:
- Feeding ok?
- Passed meconium?
- FHx of CHD; eye or hip problems?
5) General appearance
- Colour
- Tone
- Cry
6) Head:
- Inspect: shape; size; ears; eyes; mouth
- Palpate (OCP; Ant. and Post. fontanelles; Sutures; Suckle reflex
- Retinal reflex
7) Shoulders and arms
- Inspect: shoulder symmetry; arm movements; radial pulses; digits
- Palpate: Radial pulses; Pre-ductal reading (RH)
8) Chest
- Inspect: Chest expansion; Chest shape
- Palpate: breathing; SpO2
- Auscultate: Breath sounds; Heart sounds
9) Abdomen:
- Inspect: Shape
- Palpate: organomegaly; hernias; masses
10) Genitals
- Inspection: Genital presence; meconium
11) Legs:
- Inspect: shape; length; movement; digits
- Palpate: Barlow and Ortolani manoeuvres
12) Reflexes
- Moro
- Suckling
- Rooting
- Grasp
- Stepping
13) Document in notes on NIPE and in Red Book
14) Thank parent(s) and explain findings
49
The presence of a port wine stain, focal neurological deficits, seizures and visual impairments can make you suspicious of what condition?
Sturge-Weber Syndrome
```
Mnemonic:
Seizure
Tram track calcifications
U/L Port wine stain
Glaucoma
Epilepsy
```
50
Explain the difference between caput succedaneum and cephalohaematoma.
Capu succedaneum is oedema outside the periosteum following trauma which may cross suture lines.
Cephalohaematoma is subperiosteal haematoma due to trauma which results in restriction of fluid to the suture lines.
51
Shoulder dystocia may result in which palsy? What clinical features are present?
Erb's Palsy (C5/C6 damage) resulting in reduced shoulder abduction and external rotation and arm flexion and finger extension thus 'waiters tip' appearance.
Internally rotated shoulder
Extended elbow
Flexed wrist facing backwards (pronated)
Lack of movement in the affected arm
52
What are the clinical features of neonatal sepsis?
* Signs associated with infection: Cx pain/ Surgical site/Wound/Catheter site/Abdominal pain/Fever/ Flank pain/Dysuria
* Tachycardia
* Tachypnoea
* Fever
* Low temperature
* Oliguria
* Poor capillary refill/mottling of skin
* Cyanosis
* Vasoplegia (pathological low TPR) -> flash capillary refill; warm peripheries
* Hypotension
* Malaise
* Lethargy
* Altered mental status
* Non-blanching purpuric rash
53
What is the management for neonatal sepsis?
Sepsis 6 protocol
Give 3 and take 3
```
Blood cultures
Urine output
Fluids (IV)
ABX: Amoxicillin + Gentamicin; Ceftriaxone
Lactate
Oxygen
```
±
Vasopressor: NA
Inotropes: Dobutamine
Steroids: IV Hydrocortisone
54
What are the common organisms causing Neonatal Sepsis?
```
GBS
E. coli
Listeria
Klebsiella
S aureus
```
55
State 3 RFs for neonatal sepsis
```
GBS +ve mother
GBS PMHx
Premature
Early rupture of membrane
PROM
```
56
What are the causes of neonatal jaundice?
```
Haemolytic disease of the newborn
ABO incompatibility
Haemorrhage
Intraventricular haemorrhage
Cephalo-haematoma
Polycythaemia
Sepsis and disseminated intravascular coagulation
G6PD deficiency
```
```
Physiological jaundice
Prematurity
Breast milk jaundice
Neonatal cholestasis
Extrahepatic biliary atresia
Endocrine disorders (hypothyroid and hypopituitary)
Gilbert syndrome
```
57
How would you manage neonatal jaundice?
Supportive: monitor sBr (treatment threshold charts); Phototherapy (measure rebound 12-18 hours later; Exchange transfusion (donor blood)
+
Tx cause
58
What are the clinical features of neonatal jaundice?
* Yellow pigmentation of skin
* Sleepy, lethargic, poor feeding, weight gain
* Pale stool
* Dark urine
* Hyperbilirubinaemia
* If liver disease- hepatomegaly
• Neurological: Seizures; floppy; unresponsive
59
Outline the pathophysiology behind retinopathy of the neonate.
Retinal vessel development finishes at 37-40 wks thus prematurity results in higher oxygen exposure which reverses/stagnates retinal neovascularisation thus scar tissue and subsequent retinal attachment may occur
60
How may you divide the retina when reporting on findings in Retinopathy of the newborn?
3 retinal zones:
1) Optic nerve and macula
2) Edge of zone 1 to ora serrata
3) Outside ora serrata
Describe using clock face analogy e.g. 'disease from 3 o'clock to 5 o'clock'
61
When should you screen a neonate for retinopathy of the newborn?
Babies born before 32 weeks or under 1.5kg should be screened for ROP. Screening is performed by an ophthalmologist. Screening starts at:
30 – 31 weeks gestational age in babies born before 27 weeks
4 – 5 weeks of age in babies born after 27 weeks
Screening should happen at least every 2 weeks and can cease once the retinal vessels enter zone 3, usually at around 36 weeks gestation.
62
What is the management of a neonate with retinopathy?
1st line: Transpupillary laser photocoagulation
±
Intravitreal VEGFi: Sorafenib
63
How may necrotising enterocolitis present?
```
Intolerance to feeds
Vomiting, particularly with green bile
Generally unwell
Distended, tender abdomen
Absent bowel sounds
Blood in stools
```
When perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.
64
What is the gold-standard investigation for diagnosing necrotising enterocolitis?
What may the findings show?
Abdominal xray is the investigation of choice for diagnosis. This is done front on in the supine position (lying face up). Additional views can be helpful, such as lateral (from the side with the patient on their back) and lateral decubitus (from the side with the neonate on their side).
Dilated bowel loops
Bowel wall oedema
Pneumatosis intestinalis
Pneumoperitoneum
65
How do you manage a neonate with necrotising enterocolitis?
Supportive: NBM; IV Fluids; TPN; ABX; Surgical referral
+
Surgery: Laparotomy
66
What are the potential complications of necrotising enterocolitis?
```
Perforation and peritonitis
Sepsis
Death
Strictures
Abscess formation
Recurrence
Long term stoma
Short bowel syndrome after surgery
```
67
Describe the process of Neonatal Abstinence Syndrome (NAS).
withdrawal symptoms that happens in neonates of mothers that used substances in pregnancy
68
Outline the clinical features of neonatal abstinence syndrome.
```
Irritability
Increased tone
High pitched cry
Not settling
Tremors
Seizures
```
Yawning
Sweating
Unstable temperature and pyrexia
Tachypnoea (fast breathing)
Poor feeding
Regurgitation or vomiting
Hypoglycaemia
Loose stools with a sore nappy area
69
How do you manage Neonatal Abstinence Syndrome?
Supportive: Document in patient notes prior to delivery; document NAS chart for 3 days (2 for SSRIs); urinalysis
± Moderate/Severe Symptoms
Medical: Oral morphine sulphate (opiate); Oral phenobarbitone (non-opiate)
70
What medication is given to manage neonatal abstinence syndrome whereby the mother was a heroine user?
Oral morphine sulphate
71
What medication is given to manage neonatal abstinence syndrome whereby the mother was a cocaine user?
Oral phenobarbitone
72
Significant alcohol consumption during pregnancy may lead to which condition?
Outline the clinical features
Foetal Alcohol Syndrome
```
Microcephaly
Smooth, flat philtrum
Short palpebral fissure
Learning disability
Behavioural difficulties
Hearing and visual problems
Cerebral palsy
```
73
When is the risk of congenital rubella syndrome highest?
First 3 months of pregnancy
74
How do you mitigate the risk of congenital rubella syndrome in the neonate?
Supportive: Ensure maternal MMR vaccine history; Test for rubella immunity (Abs)
+
Medical: MMR vaccine (2 doses, 3 months apart)
75
What clinical features may occur in the neonate should a rubella positive mother give birth?
Congenital Rubella Syndrome
Congenital cataracts
Congenital heart disease (PDA and pulmonary stenosis)
Learning disability
Hearing loss
76
What is the normal range for weight-loss in a neonate?
<10%
77
What is normal feeding volume for a neonate?
How might these requirements change in a premature birth?
≈ 150mL/kg/day
Increase to 170-180mL/kg/day in premature (increased requirements)
- ADEK (fat-soluble vitamins)
- Fortification
- Iron (day 28)
78
What decision-making tool can be used to decide on management strategies in neonatal jaundice?
How may you interpret the chart?
Bilirubin charts
Plot according to age and sBr and look at if the value is above the threshold for phototherapy or exchange transfusion.
Note: Increases of 8.5mmol/L per hour warrant consideration for intervention: phototherapy or exchange transfusion (if more severe)
79
In a neonate that is delivered at 33+3, who's mother was pre-eclamptic treated with Labetalol, why would you monitor glucose?
Labetalol (ß-blocker) can cause hypoglycaemia
80
What is the target glucose in a neonate?
2.6mmol/L
81
What virus causes chickenpox?
VZV
82
A pregnant woman reports that she met with her friend 4 days ago and since then her friend has developed pruritic vesicles systemically - thought to be chickenpox.
What is your management of this?
Consider her immunity - has she had chickenpox?
If not, test VZV IgG
Give IV Varicella IgG within 10 days
83
A pregnant woman reports that she met with her friend 4 days ago and since then her friend has developed pruritic vesicles systemically - thought to be chickenpox.
The pregnant woman shows you itchy lesions across her abdomen and arms which you suspect are chickenpox.
What do you do?
Give Oral Aciclovir within 24 hours and if more than 20 weeks gestation
84
What may happen if a neonate is exposed to varicella zoster virus in utero?
Congenital Varicella Syndrome
Foetal growth restriction
Microcephaly, hydrocephalus, learning disability
Cataracts and eye inflammation (chorioretinitis)
Scars and skin changes (dermatomal)
Limb hypoplasia
85
What are the features of congenital cytomegalovirus syndrome?
```
Fetal growth restriction
Microcephaly
Hearing loss
Vision loss
Learning disability
Seizures
```
Mnemonic:
Cataracts
Microcephaly
Vision loss
86
How is toxoplasmosis transmitted?
Transmitted faeco-orally via faeces from cat
87
What are the clinical features of congenital toxoplasmosis?
Intracranial calcification
Chorioretinitis
Hydrocephalus
88
How is Zika virus spread?
Aides mosquitous in endemic areas
Sexual transmission
89
What are the features of congenital Zika syndrome?
Microcephaly
Foetal growth restriction
Intracranial abnormalities: ventriculomegaly; cerebellar atrophy
90
What are the risk factors for Sudden Infant Death Syndrome?
Prematurity
Low birth weight
Smoking during pregnancy
Male baby (only slightly increased risk)
91
A worried parent asks you about SIDS following her reading a news report. Advise her on how you may minimise the risk of Sudden Infant Death Syndrome?
Put the baby on their back when not directly supervised
Keep their head uncovered
Place their feet at the foot of the bed to prevent them sliding down and under the blanket
Keep the cot clear of lots of toys and blankets
Maintain a comfortable room temperature (16 – 20 ºC)
Avoid smoking. Avoid handling the baby after smoking (smoke stays on clothes).
Avoid co-sleeping, particularly on a sofa or chair
If co-sleeping avoid alcohol, drugs, smoking, sleeping tablets or deep sleepers
92
A neonate is brought in by the mother who describes periods where the child stops breathing for half a minute or so.
What do you suspect this may be?
What clinical findings would aid confirmation of this suspicion.
How do you manage this?
Apnoea of the newborn
Bradycardia
Oxygen desaturation
Tx w/
Supportive: Apnoea monitors; Tactile stimulation
+
Medical: IV Caffeine citrate
93
Why is caffeine citrate given in apnoea of the newborn?
Stimulant thus increase diaphragmatic contractility, stimulate medulla respiratory centre
Neuroprotection
94
What is the infective period for chickenpox?
2 days pre-rash to crusting of lesion
95
A 32+3/40 pregnant woman presents with a rash beginning on her trunk spreading to her hand. The rash is red and flat with some raised bumps. She has had a fever for 2/7 and coryzal for 2/7.
O/E you see red spots with a blue dot on reddened mucosa in the mouth.
What is your clinical suspicion?
What are the clinical features this woman has?
What investigation can you run?
How would you manage this?
Measles
Maculopapular rash
Koplik spots
Serology (ELISA) or PCR
* Supportive: Paracetamol/Ibuprofen
* Vitamin A supplementation:
96
What are the clinical features of infection with Coxsackie Virus?
Sx + S:
• Fever
• Ulcers and spots - across the body
• Dry cough
97
How long is the infective period of measles?
4 days before to 4 days post-rash
98
What pathogen causes an erythematous rash on the cheeks, spreading to the trunk with muscle aches and coryza?
Parvovirus B19
99
A 33 week old child who was diagnosed and treated for neonatal sepsis 3/7 has deteriorated. It is reports that they have purpuric lesions on the legs with some blue/black discolouration of the skin.
They are haemodynamically unstable at 170bpm, 92% SpO2 RA; 40/30mmHg.
What is your diagnosis?
What is your management?
Neonatal purpura fulminans
```
Supportive: NICU; IV Fluids; Anticoagulation; Blood products (factors and platelets)
+
Medical: ABX; Oxygen
+
Surgery: Surgical debridement
```
100
What does the management of sepsis involve?
Give 3, take 3
BUFALO
```
Blood cultures
Urine output
IV Fluids
ABX
Lactate
Oxygen
```
101
What are the common causes of Acute Otitis Media in a neonate?
* S. pnumoniae
* H. influenzae
* M. catarrhalis
* RSV
* Rhinovirus
102
A 3 year old child presents with fever and ear pain for 5 days as reported by the mother.
O/E the child is guarding the ear, sat close to the mother. You see vesicles present on the tympanic membrane. Additionally, you see a swollen tympanic membrane.
What clinical signs are observed?
What is your diagnosis?
How may you manage this?
Fever
Otalgia
Myringitis
Bulging tympanic membrane
AOM
Tx
Supportive: Paracetamol
+
ABX: Amoxicillin
± Resistant to ABX
Surgery: Tympanocentesis
103
What pathogens can cause Sinusitis?
* S. pneumoniae
* H. influenzae
* M. catarrhalis
* S. milleri
104
A 5 year old child presents with excess mucous from the nose and facial pain at the cheekbones for 2/52. They say they cannot smell very well.
O/e they appear coryzal.
What is your clinical diagnosis?
How can you manage this?
Acute Sinusitis
• Supportive therapy: Rest/Hydration/Warm facial packs/Steam inhalation
±
• Analgesic: Paracetamol/Ibuprofen
±
• Decongestant: Oxymetazoline nasal/ Pseudoephedrine
±
• Intranasal corticosteroid: Mometasone nasal
±
• Intranasal saline: Saline nasal
105
A 7 year old presents with a rash on their abdomen. She says the rash has been present for 2/7. Additionally the mother says she has had a fever 2/7 and sore throat.
O/E you see a sandpaper appearance to the rash with a white coating on a swollen tongue. There is cervical lymphadenopathy.
What is your differential diagnosis?
What is the causative organism?
How can you confirm this?
How do you manage this patient?
Scarlett Fever/Strep Throat
S. pyogenes
ASO titres
CXR
ECG
Supportive: Ibuprofen; Fluids; Worsening advice; Bed rest
+
Medical: Benzylpenicillin STAT + Oral Penicillin V 10/7
+
High dose-aspirin
± Myocarditis signs
- Corticosteroids
± HF
- ACEi
+
- Diuretics
± Chorea
- Benzodiazepine: Diazepam
AND
IM BenPen every 4/52 for 5 years (if no carditis); 10 years (if carditis); life (carditis and valvular disease)
106
What criteria can be used to diagnose Rheumatic Fever?
Outline these.
Jones Criteria
Positive throat swab
Positive rapid streptococcal antigen test
Raised ASO
Recent episode of Pharyngitis
± 2 major or 1 major and 2 minor
Major:
Polyarthritis
Carditis
Syndenhams chorea
Erythema marginatum (pink erythematous rash which extends outwards giving geographical rash appearance)
Subcutaneous nodules (hard pea-sized nodules on extensor surfaces)
```
Minor:
Polyarthralgia
PR prolongation
Hx rheumatic fever
Fever
Raised inflammatory markers
```
107
What phenomenon explains why valvular damage occurs in Rheumatic Fever?
Antigen mimicry whereby the cell wall component of S. pyogenes mimics that of human heart valve tissue resulting in Abs attacking the valves resulting in valvulopathy - commonly mitral regurgitation.
108
What are some of the clinical features of Sydenham's Chorea?
Spooning sign (wrist flex + finger extend)
Milkmaid’s grip (rhythmic squeezing when pt grasps examiner’s hand)
Dyskinesia (jerky movements)
109
A 3 year old patient presents with a fever for 6/7, blanching, maculopapular rash, strawberry tongue, cracked lips, cervical lymphadenopathy and erythema of the hands. Additionally, skin peeling of the volar surfaces is observed.
What is your differential diagnosis?
How do you manage this?
At what phase may vascular complications occur?
Kawasaki's Disease
Medical: Aspirin
+
IVIG
Phases: Acute (1-2 weeks of fever, rash and lymphadenopathy); Subacute phase (2-4 weeks of desquamation, arthralgia and coronary aneurysms); Convalescent stages (2-4 weeks)
110
What is the management for Kawasaki's Disease?
High dose aspirin to reduce the risk of thrombosis
+
IV immunoglobulins to reduce the risk of coronary artery aneurysms
111
A 9 month year old child presents with a cough, fever 2/7 and a wheeze as reported by the mother.
O/E they are tachypnoeic, increased WOB and SpO2 92% RA. On auscultation you hear a wheeze throughout and crackles.
What is your diagnosis?
What pathogen commonly causes this?
How do you manage this?
Bronchiolitis with some respiratory distress
RSV
Tx
Supportive: Admission; adequate fluid intake; supplementary Oxygen; Ventilatory support (PEEP; CPAP or Intubation)
112
Which babies receive Palivizumab as prophylaxis for?
Ex-premature
Congenital heart disease
Monoclonal antibody for RSV
113
Give 5 signs of respiratory distress.
```
Raised respiratory rate
Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
Intercostal and subcostal recessions
Nasal flaring
Head bobbing
Tracheal tugging
Cyanosis (due to low oxygen saturation)
Abnormal airway noises
```
114
What is the pathophysiology behind post-viral wheeze regarding airflow?
Children have a smaller, narrower airway thus a virus results in swelling, oedema and constriction of the airway which, according to Poiseuille's Law results in a marked reduction in airflow.
Therefore, turbulent airflow results in a wheeze and potential respiratory distress.
115
How is acute post-viral wheeze managed?
Mnemonic: O SHIT MAN
Oxygen
```
Salbutamol 5mg (repeat after 15 mins if wheee still present)
Ipratropium 500mcg
```
Hydrocortisone: Pred or Hydrocortisone
Theophylline infusion
Magnesium sulphate
Anaesthetist/Urgent review
116
How may asthma present?
3 years and above...
Progressively worsening shortness of breath
Use of accessory muscles
Fast respiratory rate (tachypnoea)
Symmetrical expiratory wheeze on auscultation
The chest can sound “tight” on auscultation with reduced air entry
117
How may Asthma be graded?
Moderate:
50-75% PEFR
```
Severe:
33-50% PEFR
RR >25
HR >110
Incomplete sentences
```
```
Life-threatening:
<33% PEFR
SpO2 <92%
Tiredness
Silent chest
Haemodynamically unstable
```
118
What might an ABG in a patient with severe asthma show?
Metabolic alkalosis due to tachypnoea causing a drop in CO2 resulting in hypoxia
119
Outline the paediatric asthma ladder.
```
SABA
±
low-dose ICS
±
Very-low dose ICS + LABA
±
Increase ICS or LTRA
±
Biologics: Omalizumab
```
Under 5: Do not give LABA
```
SABA
±
ICS
±
LTRA
±
Specialist
```
120
What investigations can be used to diagnose Asthma?
There is no gold-standard investigation for asthma
PEF
Spirometry
Bloods: FBC; IgE; Culture
Bronchodilator-response spirometry
BPT (mannitol or metacholine)
FeNO
121
What are the typical triggers for asthma?
```
Dust (house dust mites)
Animals
Cold air
Exercise
Smoke
Food allergens (e.g. peanuts, shellfish or eggs)
```
122
Talk a patient through inhaler technique.
Remove the cap
Shake the inhaler (depending on the type)
Sit or stand up straight
Lift the chin slightly
Fully exhale
Make a tight seal around the inhaler between the lips
Take a steady breath in whilst pressing the canister
Continue breathing for 3 – 4 seconds after pressing the canister
Hold the breath for 10 seconds or as long as comfortably possible
Wait 30 seconds before giving a further dose
Rinse the mouth after using a steroid inhaler
123
Talk a patient through MDI technique with a spacer.
Assemble the spacer
Shake the inhaler (depending on the type)
Attach the inhaler to the correct end
Sit or stand up straight
Lift the chin slightly
Make a seal around the spacer mouthpiece or place the mask over the face
Spray the dose into the spacer
Take steady breaths in and out 5 times until the mist is fully inhaled
124
What are the clinical features of Pneumonia?
```
Cough (typically wet and productive)
High fever (> 38.5ºC)
Tachypnoea
Tachycardia
Increased work of breathing
Chest sounds: Bronchial breathing/Coarse crackles
Hyporesonant
Lethargy
Delirium (acute confusion associated with infection)
```
Hypotension (shock)
Fever
Confusion
125
What is the most common viral cause of Pneumonia?
RSV
126
How do you manage pneumonia?
Supportive: Admission (CRB65 score); Fluids; Monitoring; Worsening advice
+
Medical: Amoxicillin
127
Outline the common causes of Croup.
Parainfluenza
Influenza
Adenovirus
Respiratory Syncytial Virus (RSV)
Diptheria (leads to epiglottitis)
127
Outline the common causes of Croup.
Parainfluenza
Influenza
Adenovirus
Respiratory Syncytial Virus (RSV)
Diptheria (leads to epiglottitis)
128
Outline the key differences between croup and epiglottitis,
Croup:
- Onset over days
- Unwell
- Severe barking cough
- Able to drink
- Low-grade <38.5C fever
- Hoarse voice
Epiglottitis:
- Onset over hours
- Toxic appearance, tripod stance
- No cough
- Cannot drink
- High-grade >38.5C fever
- Muffled voice
129
How do you manage Croup?
Oral dexamethasone 150mcg/kg
130
How do you diagnose epiglottitis?
XR-Neck (lateral): Thumbprint sign due to oedematous epiglottis
131
How do you manage epiglottitis?
Supportive: do not distress patient; call senior; secure airway
+
Medical: IV Ceftriaxone + IV Dexamethasone
132
Explain the pathophysiology in laryngomalacia.
There are two aryepiglottic folds at the entrance of the larynx. They run between the epiglottis and the arytenoid cartilages. They are either side of the airway and their role is to constrict the opening of the airway to prevent food or fluids entering the larynx and trachea. In laryngomalacia the aryepiglottic folds are shortened, which pulls on the epiglottis and changes it shape to a characteristic “omega” shape.
The tissue surrounding the supraglottic larynx is softer and has less tone in laryngomalacia, meaning it can flop across the airway. This happens particularly during inspiration, as the air moving through the larynx to the lungs pulls the floppy tissue across the airway to partially occlude it. This partial obstruction of the airway generates the whistling sound.
133
What are the management options for laryngyomalacia?
Supportive: Self-resolves as larynx matures and grows
or
Surgical: Tracheostomy; Supraglottoplasty
134
What is the causative organism in Whooping Cough?
Bordatella pertussis
135
What are the clinical features of whooping cough?
Fever
Coryzal symptoms
Dry cough: Paroxysmal cough with severe recurring coughing attacks followed by large, audible inspiratory whoop when coughing ends
Apnoeas (newborn)
136
What investigations may secure a diagnosis of Whooping Cough?
NP Swab and PCR
Anti-pertussis toxin IgG
137
How do you manage Pertussis?
Supportive: Notifiable disease; Supportive care
+
ABX (macrolides): Erythromycin
138
Describe Chronic Lung Disease of Prematurity.
Chronic lung disease of prematurity (CLDP) is also known as bronchopulmonary dysplasia. It occurs in premature babies, typically those born before 28 weeks gestation. These babies suffer with respiratory distress syndrome and require oxygen therapy or intubation and ventilation at birth. Diagnosis is made based on chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age.
139
What measures do physicians take to try to prevent Chronic Lung Disease of Prematurity?
Betamethasone in premature labour
Caffeine citrate
NIV (CPAP)
140
How is Chronic Lung Disease of Prematurity diagnosed?
CXR
Formal sleep study
141
What prophylaxis does a baby with chronic lung disease of the newborn require?
Monthly injections against RSV of Palivizumab (mAb to RSV)
142
What gene mutation is responsible for Cystic Fibrosis?
CFTR gene (delta-F508) on chromosome 7
143
How is Cystic Fibrosis inherited?
Autosomal recessive
144
How is cystic fibrosis diagnosed?
Clinical features: ileus; recurrent infections; failure to thrive; pancreatitis
Newborn blood spot test
Chloride sweat test
Genetic testing
145
What is the gold-standard test for cystic fibrosis?
Outline this.
Chloride sweat test
Patch of skin chosen, pilocarpine applied to skin on patch and electrodes placed either side, inducing diaphoresis. Sweat absorbed and sent to test for Cl- concentration - 60mmol/L
146
Which pathogens are patients with Cystic Fibrosis susceptible to?
How can they mitigate this?
P aeruginosa
S aureus
Prophylactic Flucloxacillin
If P. aeroginosa infection, inhaled tobramycin used
147
How is cystic fibrosis managed?
Supportive: Cx physiotherapy; Exercise; High calorie diet; Pancreatin; CREON tablets (digest fats); Prophylactic ABX; Dorase alfa; Hypertonic saline; Bronchodilators; Vaccinations (varicella; influenza; pneumococcal)
148
what is the eponymous term for primary ciliary dyskinesia?
How is it inherited?
Kartagner's Syndrome
Autosomal recessive
149
What are the clinical features of Kartagner's Syndrome?
Paranasal sinusitis
Bronchiectasis
Situs Inversus
150
What is the gold-standard investigation to diagnose Kartagner's Syndrome?
Nasal brushing
or
Bronchoscopy
151
List 10 potential causes of abdominal pain in a child.
Non-organic (functional)
```
Abdominal migraine
Constipation
Coeliac disease
IBS
IBD
Mesenteric adenitis
Gastroenteritis
Appendicitis
DKA
UTI
Pyelonephritis
PCKD
HSP
Infantile colic
Ectopic pregnancy
Dysmenorrhoea
PID
Pregnancy
Mittelschmerz (Ovulation pain)
```
```
Pyloric stenosis
Intususseption
Bowel obstruction
Testicular torsion
Ovarian torsion
```
152
What are the red flags for abdominal pain?
```
Persistent or bilious vomiting
Severe chronic diarrhoea
Fever
Rectal bleeding
Weight loss or faltering growth
Dysphagia (difficulty swallowing)
Nighttime pain
Abdominal tenderness
```
153
What are the clinical features of abdominal migraine?
```
Nausea and vomiting
Anorexia
Pallor
Headache
Photophobia
Aura
```
154
How may you manage abdominal migraine?
Acute: Ibuprofen; Paracetamol; Sumitriptan
Prophylaxis: Pizotifen
155
What are some of the clinical features of constipation in children?
Less than 3 stools a week
Hard stools that are difficult to pass
Rabbit dropping stools
Straining and painful passages of stools
Abdominal pain
Holding an abnormal posture, referred to as retentive posturing
Rectal bleeding associated with hard stools
Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools
Hard stools may be palpable in abdomen
Loss of the sensation of the need to open the bowels
156
How do you manage constipation?
```
Supportive: high fibre; fluids; reverse contributing factors; Toiletting charts
+
Medical: Movicol (PEG)
+
Tx any cause (if an organic cause)
```
157
At what age is GORD considered pathological?
1 year, as cardiac sphincter should have formed by then
158
State 5 causes of vomiting
```
Overfeeding
GORD
Pyloric stenosis
Gastritis
Appendicitis
Infection
Intestinal obstruction
Bulimia
```
159
How is GORD managed in the young child?
Supportive: smaller, frequent meals; burp regularly; keep upright
+
Medical: Gaviscon (alginate); Ranitidine
160
A young child with known GORD presents with forceful contraction of the neck muscles causing twisting of the neck and twisting movements of the neck/back, what condition is this?
Sandifer's Syndrome
161
What are the clinical features of Sandifer's Syndrome?
GORD
Torticolis
Dystonia
162
What is the pathophysiology involved in pyloric stenosis?
There is hypertrophy of the pyloric sphincter, palpable as the olive sized mass in the abdomen.
Following a feed, food is expelled retrograde which manifests as projectile vomiting
163
In pyloric stenosis, what will an ABG show?
Hypochloric metabolic alkalosis
164
What is the gold-standard diagnosis for pyloric stenosis?
US-Abdomen
165
How do you manage pyloric stenosis?
Laparoscopic pyloromyotomy (Ramstedt's operation)
166
Outline the clinical features of allergic colitis.
What may the investigations show?
Presentation:
• Diarrhoea with blood and mucus
• Failure to thrive
Investigations
• Bloods- eosinophilia, raised IgE
• positive RAST/skin prick to specific foods
167
How do you manage allergic colitis secondary to cow's milk allergy?
• Offer substitute e.g. hydrolysed milk
168
What is the most common cause of gastroenteritis?
Rotavirus (viral)
169
How would you manage a Gastroenteritis?
Supportive: Isolate (48 hours after symptoms stopped); Fluids; Dioralyte
± Bacterial gastroenteritis
- Empirical ABX
170
How long should a child isolate following Gastroenteritis?
48 hours after symptoms cleared
171
Give 5 differentials for diarrhoea in the child.
```
Infection
IBD
IBS
Lactose intolerance
Coeliac disease
Cystic fibrosis
Toddler's diarrhoea
Medications
```
172
What are the most common causes of viral gastroenteritis?
Rotavirus
Norovirus
173
Which strain of E.coli produces the Shiga toxin?
E.coli 0157
174
What condition can E.coli producing bloody diarrhoea and vomiting suggest?
Haemolytic Uraemic Syndrome
175
A 25 year old man returns from travelling around Indonesia for 2 weeks. He is having some bouts of diarrhoea without blood which he had towards the latter stage of his trip.
The culture shows a curved bacterium and gram stain is negative.
What is the pathogen?
Campylobacter jejuni
176
How is shigella transmitted?
Faeco-oral through contaminated water
177
What syndrome may Shigella infection cause?
How may severe cases be treated?
Haemolytic Uraemic Syndrome (HUS)
Ciprofloxacin
178
How's salmonella transmitted?
Faeco-oral via food or raw eggs or poultry
179
A 18 year old uni student eats his leftover egg fried rice which was not refrigerated. He develops abdominal cramping, tenesmus and diarrhoea within 3 hours.
What is the cause?
Gastroenteritis secondary to Bacillus cereus
180
A 12 year old girl presents with bloody diarrhoea, abdominal pain and fever. She has not travelled anywhere or does not exhibit any risky behaviour. The last thing she ate was some pork.
O/E she is tender in the RIF.
A stool culture shows a gram negative bacillus.
What could be the cause?
Gastroenteritis
with features of mesenteric lymphadenitis
Rule out appendicitis
Yersinia enterocolitica (from the pork)
181
Which meat is a carrier of Yersinia enterocolitica?
Pork
182
How is Giardiasis transmitted?
Faeco-oral from SI of mammals
183
How do you manage a patient with Giardasis?
Metronidazole
184
What are the potential complications of gastroenteritis?
IBS
Reactive arthritis
Lactose intolerance
Guillain-Barré Syndrome
185
Which antibodies are seropositive in Coeliac disease?
anti-TTG
anti-EMA
186
What rash is associated with Coeliac Disease?
Dermatitis herpetiformis is an itchy blistering skin rash that typically appears on the abdomen
187
In all patients with Type 1 Diabetes Mellitus, what other autoimmune condition is tested for?
Coeliac disease
188
What is the strongest gene association in a patient with Coeliac Disease?
HLA-DQ2 (90%)
189
Why should you test for total immunoglobulin A levels when testing for Coeliac disease?
Anti-TTG and anti-EMA are IgA antibodies thus test for total IgA levels in case of a deficiency which will produce a false negative
190
What would intestinal biopsy show in a Coeliac disease patient?
“Crypt hypertrophy”
| “Villous atrophy”
191
How do you manage a patient with Coeliac disease?
Gluten free diet
192
Give 3 potential complications of Untreated Coeliac Disease.
```
Vitamin deficiency
Anaemia
Osteoporosis
Ulcerative jejunitis
Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)
Small bowel adenocarcinoma (rare)
```
193
Outline the key differences between Crohn's Disease and Ulcerative colitis.
```
Crohn's Disease:
No blood or mucous
Entire GI tract
Skip lesions
Terminal ileum and transmural thickness
Smoking is a RF
```
```
Ulcerative colitis:
Continuous inflammation
Limited to colon and rectum
Only superficial mucosa affected
Smoking is protective
Excrete blood and mucuous
Use aminosalicylates
Primary sclerosing cholangitis
```
194
What are the extra-intestinal manifestations of Inflammatory Bowel Disease?
```
Finger clubbing
Erythema nodosum
Pyoderma gangrenosum
Episcleritis and iritis
Inflammatory arthritis
Primary sclerosing cholangitis (ulcerative colitis)
```
195
What are the gold-standard investigations for Irritable Bowel Syndrome?
Faecal calprotectin
Endoscopy
Imaging (CT/MRI)
196
In biliary atresia, which form of bilirubin will be markedly raised?
Conjugated bilirubin
197
How is biliary atresia diagnosed?
Liver biopsy
198
How do you manage biliary atresia?
Kasai portoenterostomy - attaching SI to opening of liver
199
Give 5 causes of an Intestinal Obstruction in a child.
```
Dehydration
Medication
Meconium ileus
Pyloric Stenosis
Hirschsprung’s disease
Oesophageal atresia
Duodenal atresia
Intussusception
Imperforate anus
Malrotation of the intestines with a volvulus
Strangulated hernia
```
200
How is an intestinal obstruction diagnosed?
AXR - bowel loop dilation
201
How do you manage an intestinal bowel obstruction?
Supportive: PAU admission; NBM; NG tube (drip and suck); IV fluids; monitor
+
Tx cause
202
What is Hirschprung's Disease?
Absence of parasympathetic ganglion cells in Auerbach's plexus
203
What are the types of Hirschprung's Disease?
Rectal
Rectosigmoid
Long segment
Total
204
How do you diagnose Hirschsprung's disease?
AXR
Rectal biopsy
205
How is Hirschsprung's disease managed?
Surgical removal of ganglionic sections
206
In what age range is Intussusception most common?
6mo - 2 years
207
How may Intussusception present?
```
Severe, colicky abdominal pain
Pale, lethargic and unwell child
“Redcurrant jelly stool”
Right upper quadrant mass on palpation. This is described as “sausage-shaped”
Vomiting
Intestinal obstruction
```
208
How is Intussusception managed?
Therapeutic enema
Surgical reduction
± Gangrenous
Surgical resection
209
Where is tender to palpation in appendicitis?
LIF (Rosving's sign)
RIF (McBurney's point)
General abdominal wall (rebound and percussion tenderness)
210
How is appendicitis managed?
Supportive: Admission; IV Fluids; NBM;
+
Surgical: Lap appendicectomy; Laparotomy
211
What are the most common anatomical positions of the appendix?
Retrocaecal
Pelvic
Subcaecal
Preileal
Postileal
212
List some common signs associated with Appendicitis.
Cope's Psoas Test (laying in L lateral decubitus app side of pain and extension of thigh causes pain)
Dunphy sign: Pain when coughing (increased IA pressure)
Markle Sign (stand on toes and drop down on heels with audible thump = localised abdominal pain)
Massouh Sign (sweeping motion from xiphisternum to LIF cf RIF)
McBurney's Point (pain at 1/3 from umbilicus to ASIS)
Rosving's sign (LIF pain on palpation)
213
Give an example of two potential infective causes associated with Type 1 Diabetes Mellitus.
Coxsackie B virus
Enterovirus
214
Which cells produce insulin?
beta cells in the Islets of Langerhans in the pancreas
215
Which cells produce glucagon?
alpha cells in the Islets of Langerhans in the pancreas
216
What are the clinical features of a DKA?
```
Reduced consciousness
Abdominal pain
Polyuria
Polydipsia
Weight loss
```
Ketotic breath
Recurrent secondary infections
217
What is the long-term management for Type 1 Diabetes Mellitus?
Supportive: Patient education; Annual review; Ophthalmology; Renal check up; Podiatry
+
Medical: Insulin regime (basal-bolus cf CSII)
218
A newly diagnosed diabetic patient presents with hard, discrete, mobile lumps on her abdomen. She says that is where she usually injects her insulin.
What advice would you give this patient?
This is lipodystrophy where subcutaneous fat hardens at the injection site.
Rotate injetion site
219
A patient asks you to explain the insulin pump. They are finding daily injections time-consuming and embarrassing.
Outline how it works, pros and cons.
An insulin pump is a small device which allows insulin to continuously infuse at a variable rate according to blood glucose levels.
Pump pushes insulin via a small cannula into the skin.
Child must be:
- Over 12
- Difficulty managing insulin
Pros:
- Better control
- Less injections
- More control
Negatives:
- Learning to use
- Attached at all times
- Risk of injection
220
What are the long-term complications of Diabetes?
Macrovascular Complications:
Coronary artery disease is a major cause of death in diabetics
Peripheral ischaemia causes poor healing, ulcers and “diabetic foot”
Stroke
Hypertension
Microvascular Complications:
Peripheral neuropathy
Retinopathy
Kidney disease, particularly glomerulosclerosis
Infection Related Complications:
Urinary tract infections
Pneumonia
Skin and soft tissue infections, particularly in the feet
Fungal infections, particularly oral and vaginal candidiasis
221
What ways can you monitor glucose in Diabetes?
HbA1c
Capillary blood glucose
Flash glucose monitoring
222
Outline the pathophysiology of DKA. What derangements are noted?
Inadequate insulin due to pancreatic insufficiency and hypoinsulinaemia results in reduces intracellular uptake of glucose. The elevated glucose increases the osmolarity which results in osmotic diuresis (polyuria) and polydipsia. The prolonged post-prandial state results in ketogenesis and subsequent metabolic acidosis. Finally, hyperinsulinaemia results in reduced amount of potassium driven into cells resulting in hyperkalaemia and subsequent arrhythmia.
223
What is the worrying complication of DKA in children? Outline the pathophysiology.
Cerebral oedema may occur due to fluid shifting from the intracellular space in brain to the extracellular space resulting in brain cell shrinking, dehydrating.
Rapid correction of dehydration and hyperglycaemia may result in rapid shift in water from EC to IC which results in brain swelling and cerebral oedema.
224
What is the diagnostic criteria for DKA?
Hyperglycaemia >11mmol/L
Ketosis >3mmol/L
Acidosis pH <7.3
225
Deficiency of what enzyme causes Congenital Adrenal Hyperplasia?
21-alpha hydroxylase
226
What is the pathophysiology of Congenital Adrenal Hyperplasia?
21 alpha hydroxylase deficiency therefore no progesterone converted into aldosterone and cortisol thus reduction in mineralocorticoids and glucocorticoids however, excessive androgen production
227
In a patient with Congenital Adrenal Hyperplasia, what clinical features would you expect?
Dehydration
Fatigue
Thirst
Arrhythmias
Tall
Skin pigmentation (elevated ACTH which binds at melanocytes)
Genitalia changes: virilised genitalia and clitoromegaly
Hyponatraemia + Hyperkalaemia (Aldosterone deficiency)
Hypoglycaemia (Cortisol deficiency)
High androgen levels
228
How do you manage Congenital Adrenal Hyperplasia?
Medical: Hydrocortisone; Fludrocortisone
±
Surgery: Clitorectomy
229
How do you diagnose growth hormone deficiency in a child?
GH stimulation test - measuring GH release in response to glucagon, insulin, arginine and clonidine for 2-4 hours after administering medication
230
What effect does clonidine have on GH release?
Clonidine is an alpha 2 adrenoceptor agonist which also has weak effect in inhibiting SS release and increases release of GHRH
231
How is growth hormone deficiency managed in children?
```
Supportive: Paediatric endocrinology referral; annual review
+
Medical: Insulin SC
+
Tx other problems
```
232
Which antibodies are present in Hashimoto's Thyroiditis?
anti-TPO
antithyroglobulin antibodies
233
What can congenital hypothyroidism be the result of?
How may it be detected?
Dysgenesis
Dyshormonogenesis
Newborn blood spot screening tool
234
How is hypothyroidism managed?
Levothyroxine 1.6mcg/kg - titrate on TFTs and symptoms
235
How is a UTI managed in a child?
All children <3 months + fever
- Initiate Sepsis 6
- IV ABX (Ceftriaxone)
> 3 months
- Nitrofurantoin
- Trimethoprim
236
How should recurrent UTIs be investigated in children?
Investigate for underlying cause and renal damage
Options:
- US-Renal
- DMSA Scan
- MCUG scan
```
<6 months old
- US-Abdomen (6 weeks)
- MCUG Scan
±
DMSA scan (4-6 months after)
```
Recurrent UTIs
- US-Abdomen (6 weeks)
- DMSA Scan
237
How do you broadly interpret a DMSA scan?
This involves injecting a radioactive material (DMSA) and using a gamma camera to assess how well the material is taken up by the kidneys. Where there are patches of kidney that have not taken up the material, this indicates scarring that may be the result of previous infection.
238
How does a MCUG work?
It involves catheterising the child, injecting contrast into the bladder and taking a series of xray films to determine whether the contrast is refluxing into the ureters. Children are usually given prophylactic antibiotics for 3 days around the time of the investigation.
239
What age is vulvovaginitis most common in children?
3-10 years
240
Give 3 causes of vulvovaginitis?
Wet nappies
Use of chemicals or soaps in cleaning the area
Tight clothing that traps moisture or sweat in the area
Poor toilet hygiene
Constipation
Threadworms
Pressure on the area, for example horse riding
Heavily chlorinated pools
241
How is vulvovaginitis managed?
Supportive:
Avoid washing with soap and chemicals
Avoid perfumed or antiseptic products
Good toilet hygiene, wipe from front to back
Keeping the area dry
Emollients, such as sudacrem can sooth the area
Loose cotton clothing
Treating constipation and worms where applicable
Avoiding activities that exacerbate the problem
242
What are the features of nephrotic syndrome?
Low serum albumin
High urine protein content (>3+ protein on urine dipstick)
Oedema
may feature...
Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins
High blood pressure
Hyper-coagulability, with an increased tendency to form blood clots
243
What is the most common cause of nephrotic syndrome in children?
Minial change disease
244
What does light microscopy show in minimal change disease?
No abnormality
245
What does light microscopy show in minimal change disease?
Loss of podocytes
246
How is minimal change disease treated?
Prednisolone
247
How do you manage a nephrotic syndrome?
Supportive: salt-restrict; fluid-restrict
+
Medical: Steroids; diuretics
± Resistant
ACEi/ Immunosuppressants
248
What are the complications of nephrotic syndrome?
```
Hypovolaemia
Thrombosis
Infection
Acute or chronic renal failure
Relapse
```
249
What are the key clinical features of nephritic syndrome?
Reduced eGFR
Haematuria
Proteinuria
250
What are the two most common causes of nephritic syndrome in children?
Berger's Disease
Post-streptococcal Nephropathy
251
What clinical features may suggest post-streptococcal glomerulonephritis?
Haematuria
Proteinuria
Oedema
PMHx sore throat (tonsilitis)
ASO titres elevated
252
What would a kidney biopsy of a patient with Berger's disease show?
IgA deposits in nephrons and glomerular mesangial proliferation
253
What is the most common cause of Haemolytic Uraemic Syndrome?
E.coli 0157 bacteria which produce the shigella toxin
Shigella
254
What clinical features may be suggestive of Haemolytic Uraemic Syndrome?
Gastroenteritis: diarrhoea; nausea
```
Haematuria
Oliguria/Anuria
Abdominal pain
Oedema
Hypertension
Bruising
```
255
How do you manage Haemolytic Uraemic Syndrome?
Supportive: Admission; IV Fluids;
±
RRT; Antihypertensives
256
How may enuresis be classified?
Nocturnal
Diurnal
Primary (never dry)
Secondary (>6 months)
257
What are the causes of primary nocturnal enuresis?
Overactive bladder
Fluid intake
Failure to wake
Psychological stress
UTI
Chronic constipation
Cerebral palsy
258
What are some causes of secondary enuresis?
```
UTI
Constipation
T1DM
New psychosocial problems
Maltreatment
```
259
How may enuresis be managed?
Supportive: bed wetting alarms; toilet training; reward systems; reduce fluid intakes; positive reinforcement
+
Medical: Oxybutinin; Desmopressin; Imipramine
260
Which form of polycystic kidney disease presents earlier?
ARPKD (neonates) cf ADPKD (20-30)
261
What are the complications or associated conditions with polycystic kidney disease?
```
CKD
Hypertension
CLD
Liver failure (fibrosis)
Portal hypertension
```
262
The presence of multiple cysts in one kidney with the other kidney remaining normal is termed?
When is it detected?
Multicystic Dysplastic Kidney
Antenatal ultrasound scan
263
What are the clinical features of a Wilms tumour?
```
Abdominal pain
Hypertension
Haematuria
Lethargy
Fever
Weight loss
```
264
What is the gold-standard investigation for a Wilms tumour?
US-Renal
265
How is a Wilm's tumour managed?
Surgery: Nephrectomy
±
Medical: chemotherapy + radiotherapy
266
What is the gold-standard investigation for investigation of urinary retention and recurrent urinary tract infections in a child?
US-Abdomen
MCUG
267
How are posterior urethral values onitored?
Surgery: Ablation/ Endoscopic incision
268
Upon a newborn baby check, you cannot observe testicles in the scrotum. What is this called?
Cryptorchidism (undescended teste)
269
What are the risks associated with undescended testes?
Testicular torsion
Infertility
Testicular cancer
270
How are undescended testes managed?
If salvageable:
- Orchidopexy
If unsalvageable:
- Orchiectomy
271
How is hypospadias managed?
Urethroplasty
272
How is epispadias managed?
Urethroplasty
273
What are the clinical features of a hydrocoele?
Soft, smooth swelling around the testes
Transilluminates
Negative Prehn's test
Positive Cremasteric reflex
274
Where does fluid collect in a hydrocoele?
Tunica vaginalis surrounding the testes
275
Describe how a communicating hydrocoele works?
Tunica vaginalis has a conduit with the peritoneal cavity therefore a pathway created called the processus vaginalis, allowing fluid to drain into the scrotum to form a hydrocoele
276
How is a hydrocoele managed?
Supportive: Self-dresolving
or
Surgery: Hydrolectomy
277
How long is recommended to breast feed?
6/12
278
How much milk should a baby be consuming?
What is the frequency?
150mL/kg
2-3 hours then 4 hours + between feeds
279
What is an acceptable amount of weight loss for a baby?
Why may this occur?
<10%
SA:V ratio = high metabolic ratel dehydration; switch from nutrition, colostrum then milk
280
If a child is in the 91st centile for height, what does this mean? Explain to the parent.
Child is taller than 91% of other children at that same age and gender
281
what is childhood obesity defined as according to growth charts?
BMI > 95th percentile
282
What is the criteria for faltering growth?
Have a higher index of suspicion if the child is underweight to begin
One or more centile spaces if their birthweight was below the 9th centile
Two or more centile spaces if their birthweight was between the 9th and 91st centile
Three or more centile spaces if their birthweight was above the 91st centile
283
What investigation should be conducted in a suspected case of failure to thrive?
```
Urine dipstick, for urinary tract infection
Coeliac screen (anti-TTG or anti-EMA antibodies)
```
Bloods
US-Abdomen (PS)
Chloride sweat tests
284
How do you predict a child's height based on parents?
(Maternal height + paternal height ± 14cm) / 2
M = +14cm
F = -14cm
285
What is the key feature of Constitutional Delay in Growth and Puberty?
What is the gold-standard investigation for this?
Delayed bone age - delayed bone age cf children their age
XR
286
At what age should a child support their head in the midline?
4 months
287
At what age can a child sit upright?
6 months
288
At what age does a child crawl?
9 months
289
At what age does a child begin cruising?
12 months
290
At what age can a child kick a ball?
2 years
291
At what age can a child walk up stairs?
3 years
292
At what age can a child grasp an object in their palm?
6 months
293
At what age does a child demonstrate a pincer grasp?
12 months
294
At what age can a child use a spoon to bring from the bowl to mouth?
18 months
295
When can a child hold a crayon and scribble?
12 months
296
When can a child draw a circle?
3 years
297
When can demonstrate a a mature tripod pencil grasp?
5 years
298
When can a child make cooing noises?
3 months
299
When can a child make noises with consonants?
6 months
300
When can a child say single monosyllabic words in context?
12 months
301
When can a child combine words to make basic sentences?
3 years
302
At what age can a child follow simple instructions?
12 months
302
At what age can a child follow simple instructions?
12 months
303
At what age can a child understand two key words?
2 years
304
At what age can a child understand three key words?
3 years
305
At what age does a child become engaged with people?
6 months
306
At what age does a child begin pointing and handing objects?
12 months
307
At what age does a child begin to imitate activities such as using a phone?
18 months
308
At what age does a child become dry by night and have bowel control?
4 years
309
What are the red flags of development?
```
Lost developmental milestones
Not able to hold an object at 5 months
Not sitting unsupported at 12 months
Not standing independently at 18 months
Not walking independently at 2 years
Not running at 2.5 years
No words at 18 months
No interest in others at 18 months
```
310
What are some common causes for Global Developmental Delay?
```
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Rett syndrome
Metabolic disorders
```
311
What are the reasons for Gross Motor Delay?
```
Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment
```
312
What are the reasons for fine motor delay?
```
Dyspraxia
Cerebral palsy
Muscular dystrophy
Visual impairment
Congenital ataxia (rare)
```
313
What are the common reasons for language delay?
```
Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking
Hearing impairment
Learning disability
Neglect
Autism
Cerebral palsy
```
314
What are the common causes for personal and social delay?
Emotional and social neglect
Parenting issues
Autism
315
What is a normal IQ?
70-120
316
What category of learning disability is an IQ of 58?
Mild (55-70)
317
What category of learning disability is an IQ of 68?
Mild
318
What category of learning disability is an IQ of 48?
Moderate
319
What category of learning disability is an IQ of 35?
Severe
320
What category of learning disability is an IQ of 18?
Profound
321
How do you manage a learning disability?
Supportive: MDT approach
322
How should you determine capacity broadly in a patient with a learning disability?
Capacity is decision specific, does not prevent the ability to make decisions
Require time, effort and decision aids
Check they can:
- Understand
- Retain
- Weigh up
- Communicate
323
What staging criteria can used to determine the stage of puberty a child is at?
Tanner staging
324
A child presents with short stature and at aged 16, has not began puberty.
His bloods show low LH and FSH.
What condition does he have?
Hypogonadotrophic hypogonadism
325
A child presents with short stature and at aged 16, has not began puberty.
His bloods show elevated LH and FSH.
What condition does he have?
Hypergonadotrophic hypogonadism
326
What are the potential causes of hypogonadotrophic hypogonadism?
```
HP axis damage - radiotherapy/surgery
GH deficiency
Hypothyroidism
Hyperprolactinaemia
Cystic fibrosis
IBD
Excessive exercise/dieting (eating disorders)
Constitutional delay
Kallman Syndrome
```
327
How do you manage a suspected case of child abuse?
Refer to a specialist - safeguarding team/CAMHS/Police
327
How do you manage a suspected case of child abuse?
Refer to a specialist - safeguarding team/CAMHS/Police
328
At what age can a child consent to a treatment?
Recognised as an adult aged 16 (Scots Law) and 18 (England + Wales)
If younger, use Gillick competence on a decision-by-decision basis
329
What chromosome abnormality gives rise to Down's Syndrome?
Trisomy 21
330
What are the clinical features of Down's Syndrome?
```
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpable fissures
Single palmar crease
```
331
What screening tests are offered in pregnancy for Down's Syndrome?
Combined test (11-14 weeks)
1) US: ? Nuchal translucency (>6mm)
2) Bloods: elevated ßhCG and lower PAPPA
```
Quadruple test (14-20 weeks)
ßhCG = higher
AFP = lower
Serum oestriol = lower
Inhibin: higher
```
332
A woman tests at 16 weeks with deranged quadruple test. Her ßhCG is elevated, as with her inhibin-A. Whilst her PAPPA and oestriol is lower.
She asks what her risk of Down's Syndrome in this pregnancy is?
What further testing is available?
5%
Amniocentesis
CVS <15 weeks thus not this option
Amniocentesis
333
How do you manage Down's Syndrome?
Supportive: MDT involvement; Regular review
±
Medical: Tx consequences
334
What is the karyotype for Klinefelter's Syndrome?
47 XXY
335
What are the clinical features of Klinefelter Syndrome?
```
Taller height
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language
```
336
How do you manage someone with Klinefelter Syndrome?
```
Supportive: MDT
+
Medical: Testosterone IM
+
Surgery: Breast reduction surgery
```
337
A patient presents with a short stature, webbed neck, cubitus valgus and late puberty. She is worried. She also says she has widely spaced nipples and a broad chest.
What is her genotype likely to be?
What condition does she have?
45XO
Turner Syndrome
338
How is Turner Syndrome managed?
Supportive: MDT referral
+
Medical: GH therapy; Sex hormone replacement; Fertility Tx
339
A patient presents with a short stature. O/E you see a broad forehead, wide spaces between the eye, low set ears and a webbed neck. Additionally, they have widely spaced nipples.
What condition do you think they have?
Noonan Syndrome
340
A patient presents complaining that his knee feels like it will give way. with tall stature and a long neck. You observe long limbs and long fingers.
What might you observe when inspecting his mouth?
What might you observe when inspecting his chest?
What condition do you think this patient has?
What causes this condition?
High arching palate
Chest wall deformities
Marfan Syndrome
Fibrillin gene mutation -> ∆ECM
341
What murmurs are associated with Marfan Syndrome?
Mitral valve prolapse (with regurgitation)
| Aortic valve prolapse (with regurgitation)
342
A child is brought in by their mother who is concerned about their development. The child is not social with other children at nursery and at the age of 8 months, cannot recognise the faces of their family/friends and appears unreceptive.
O/E you notice a long, narrow face. The child has large ears.
What condition is this?
What causes this condition?
Fragile X Syndrome
FMR1 gene ∆
343
A 4 year old is brought in by their mother due to their constant hunger. The child eats everything they see. She is very distressed and worried it is not healthy.
O/E you identify skin that easily bruises, a narrow forehead, a squint and the child is morbidly obese in the 99th centile for weight.
What condition do you think this child has?
PWS
344
A young girl presents with balance issues. She laughs at random times, is described to be fascinated with water. She is very happy and excitable.
O/E you see a small head and light hair with blue eyes. She has a wide mouth and widely spaced teeth.
What condition does she have?
Angelman Syndrome
345
A child is brought in by his mother due to his wide mouth and widely spaced teeth. She says he is very sociable and trusting.
O/E he has a flattened nasal bridge, long philtre and small chin. You notice starburst eyes.
What condition do you think he has?
What associated conditions are there?
William Syndrome
Supravalvular aortic stenosis
ADHD
HTN
Hypercalcaemia
346
Outline the process of a vasovagal episode.
A vasovagal episode (or attack) is caused by a problem with the autonomic nervous system regulating blood flow to the brain. When the vagus nerve receives a strong stimulus, such as an emotional event, painful sensation or change in temperature it can stimulate the parasympathetic nervous system. Parasympathetic activation counteracts the sympathetic nervous system, which keeps the smooth muscles in blood vessels constricted. As the blood vessels delivering blood to the brain relax, the blood pressure in the cerebral circulation drops, leading to hypoperfusion of brain tissue. This causes the patient to lose consciousness and “faint”.
347
How may you categorise a syncopal episode?
Primary vs Secondary
348
What investigations may you conduct in a patient with syncope?
Bloods
ECG
Echocardiogram
349
What advice would you give to someone suffering from primary syncopal episodes?
Supportive: fluid intake; 3 meals; snacks; take breaks; try to prevent when experiencing prodromal symptoms
350
Describe what occurs in a Generalised Tonic-Clonic seizure.
How are they managed?
There is loss of consciousness and tonic (muscle tensing) and clonic (muscle jerking) movements. Typically the tonic phase comes before the clonic phase. There may be associated tongue biting, incontinence, groaning and irregular breathing.
Post-ictal period
Sodium valproate (if not pregnant/on contraception)
351
How may a focal seizure present?
How are they managed?
Hallucinations
Memory flashbacks
Déjà vu
Doing strange things on autopilot
Lamotrigine (reverse order of tonic-clonic)
352
A child's mother reports episodes of the child staring blankly into space and after a period of 30 seconds, will return to normal. They seem in a frozen state.
What form of epilepsy is being described?
How do you manage this?
Absence seizure
Sodium valproate
353
In a child experiencing Atonic Seizures, what condition must you be suspicious of?
What are the key features of this condition?
How do you manage atonic seizures?
Lennox-Gastaut Syndrome
Intellectual impairment + EEG findings + Multiple types of seizures
Sodium valproate
354
A mother brings in her 6 month year old child reporting full body spasms. She is worried.
What condition may this be?
How is this managed?
West Syndrome (infantile spasms)
Prednisolone
355
A 2 year old child is brought in with a high temperature. The mother says recently she had her vaccines and has had a temperature spike. Also she is having some brief periods whereby she is tensing up and then has some muscle jerking.
What condition is this?
Febrile convulsions
356
What is the management of seizures in children?
Supportive: showers; cautious swimming; avoid heights; do not drive; cautious with high powered equipment; annual review; referral to neurologist
+
Medical: Sodium valproate; Lamotrigine
357
What are the side effects of carbamazepine?
Agranulocytosis
Aplastic anaemia
Induces the P450 system so there are many drug interactions
358
What are the side effects of phenytoin?
```
Folate and vitamin D deficiency
Megaloblastic anaemia (folate deficiency)
Osteomalacia (vitamin D deficiency)
```
359
What are the side effects of ethosuximide?
Night terrors
| Rashes
360
A child presents with a seizure that has lasted 7 minutes. You have put them in a recovery position and moved obstacles which may cause injury.
What condition do you suspect?
How would you manage this?
Status Epilepticus
A-E
Call for help
A - secure airway; recovery position
B - Oxygen
C - monitor; access
D - Glucose; IV Lorazepam (secondary care) or Buccal midazolam (community)
If persists, give IV Phenytoin
361
What is the risk of developing epilepsy following a febrile convulsion?
2-7.5% after a simple febrile convulsion
10-20% after a complex febrile convulsion
362
What are the potential causes of febrile convulsions?
Immunisation
Epilepsy
Meningitis, encephalitis or another neurological infection such as cerebral malaria
Intracranial space occupying lesions, for example brain tumours or intracranial haemorrhage
Syncopal episode
Electrolyte abnormalities
Trauma (always think about non accidental injury)
363
When are breath holding spells most common?
What two types are there? Explain the difference.
6-18 months
1) Cyanotic Breath Holding - v upset, crying, long cry; lethargic following cry
2) Reflex anoxic seizures - child v startled, heart stops beating; child goes pale and have some seizures - normal after 30 seconds
364
What condition is associated with breath holding spells?
Breath holding spells have been linked with iron deficiency anaemia. Treating the child if they are iron deficiency anaemic can help minimise further episodes.
365
A child presents with dull-pressure headache. He describes it coming on in a band-like pattern around the forehead.
There are no associated visual changes. Following 30 minutes, the pain is gone. It gets worse when they are stressed or skipped meals.
What is your DDx?
What is your Tx?
Tension headaches
Supportive: Reassurance; regular meals; fluid intake; reduce stress; analgesia
366
A child presents with a unilateral headache located in the temporal region. Prior to it beginning, they have some visual changes. Additionally they feel sick.
What is your DDx?
What is your Tx?
Supportive: Rest; fluid intake; Analgesia
± Recurrent migraines
Medical: Propanolol; Pizotifen; Topiramate
367
How may you categorise the causes of cerebral palsy?
Antenatal
Perinatal
Postnatal
368
What are the types of cerebral palsy?
Spastic (hypertonia)
Dyskinetic (muscle tone + hypertonia + hypotonia + athetoid movements)
Ataxic (coordination and balance problems)
Mixed (elements of each)
369
What are the different patterns of cerebral palsy?
Monoplegia: one limb affected
Hemiplegia: one side of the body affected
Diplegia: four limbs are affects, but mostly the legs
Quadriplegia: four limbs are affected more severely, often with seizures, speech disturbance and other impairments
370
What are the fundamental differences between upper and lower motor neurone lesions?
Upper:
- Muscle bulk fine
- Hypertonia
- Hyperreflexia
- Power fine
Lower:
- Reduced muscle bulk
- Hypotonia
- Hyporeflexia
- Reduced power
371
How do you manage Cerebral Palsy?
```
Supportive: MDT; feeding
+
Medical: Baclofen; Lamotrigine; Glycopyrronium bromide
±
Surgery: Tenotomy
```
372
A child is brought in by the mother due to having one eye 'less open than the other'.
O/E the child has an obvious strabismus.
Why should this be corrected?
How can you test for this?
How is this managed?
Prevent amblyopia.
Hirschberg's test (shine light from 1m and should be equal and symmetrical)
Cover test (if eye moves inwards, it has drifted outside thus exotropia; if eye moves outwards, it has drifted inwards thus esotropia)
Supportive: Occlusive patch (cover good eye); Ophthalmologist referral
±
Medical: Atropine eye drops (in good eye)
373
Outline the process of CSF fluid production and drainage in the brain.
Produced by the choroidal plexus by ependymal cells then drains from lateral to third to fourth ventricles and absorbed into venous system by arachnoid granulations
374
What is the most common congenital cause of hydrocephalus?
The most common cause of hydrocephalus is aqueductal stenosis, leading to insufficiency drainage of CSF. The cerebral aqueduct that connects the third and fourth ventricle is stenosed (narrowed). This blocks the normal flow of CSF out of the third ventricle, causing CSF to build up in the lateral and third ventricles.
375
What age do sutures fuse in a child?
2 years
376
What are the clinical features of hydrocephalus in a child?
enlarged and rapidly increasing head circumference (occipito-frontal circumference)
Bulging anterior fontanelle
Poor feeding and vomiting
Poor tone
Sleepiness
377
How do you manage a hydrocephalus?
Surgery: VP shunt
378
What are the complications of a VP shunt?
Infection
Blockage
Excessive drainage
Intraventricular haemorrhage during shunt related surgery
Outgrowing them (they typically need replacing around every 2 years as the child grows)
379
How may premature skull suture closure be classified?
Classified based on suture closure
Sagittal synostosis
Coronal synostosis
Metopic synostosis
Lambdoid synostosis
380
What is the gold standard investigation to investigate a craniosynostosis?
How would you manage a cranyosynostosis?
XR-Skull
Surgery: Craniectomy
381
A mother is worried that if she lets her child rest their head on a flat surface, it will change the shape of their head.
What is this condition caused?
Plagiocephaly - potential Brachycephaly if back of the head
382
How is Plagiocephaly managed?
Supportive: XR-Skull (exclude Craniosynotosis); Physiotherapy; Plagiocephaly helmets; Positioning; use rolled towels to position head
383
What is the name of the sign of a child using their hands and knees to get up in order to walk?
What condition does it suggest?
Gower's Sign
DMD/BMD
384
Mutation of what gene causes DMD?
Dystrophin gene
385
What are the clinical features of myotonic dystrophy?
Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias
386
What are the clinical features of myotonic dystrophy?
Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias
387
A patient's mother reports they sleep with their eyes slightly open. O/E they have a weakness when pursing their lips, unable to blow their cheeks out against resistance. Additionally, they have weakness on in the face, progressing to the shoulders and arms.
What is the DDx?
Facioscapulohumeral Muscular Dystrophy
388
A 24 year old patient presents with weakness of eye movements and a weak swallow. O/E they have a bilateral ptosis, restricted eye movements and swallowing problems.
What is your DDx?
Oculopharyngeal Muscular Dystrophy
389
What is Emery-Dreifuss Muscular Dystrophy?
Childhood presentation of contractures in the elbow and ankles with shortening of muscles and tendons which result in progressive weakness and muscle wasting - beginning in the upper arms and lower legs
390
What are the clinical features of Spinal Muscular Atrophy?
LMN of spinal cord thus LMN signs
```
Atrophy
Fasciculations
Hypotonia
Reduced power
Hyporeflexia
```
391
How is Spinal Muscular Atrophy managed?
Supportive: MDT management; Physiotherapy; NIV; Feeding
392
What are the clinical features of depression in children?
```
Low mood
Anhedonia, a lack of pleasure in activities
Low energy
Anxiety and worry
Clinginess
Irritability
Avoiding social situations (e.g. school)
Hopelessness about the future
Poor sleep, particularly early morning waking
Poor appetite or over eating
Poor concentration
```
393
How is depression managed in children?
Supportive: Psych. referral; counselling
+
Medical: Fluoxetine 10mg
394
How do you manage Anxiety in a child?
Supportive: Self-help; avoid caffeine; exercise; diet
± Moderate/Severe
Medical: Sertraline
395
How is autism managed in children?
MDT
+
Tx comorbidities
396
What is the management of ADHD in children?
Methylphenidate
397
Lanugo hair is a pathognomonic sign of what condition?
Anorexia nervosa
398
What clinical features typify Bulimia Nervosa?
Purging behaviours
Russel Sign
GORD
Dental erosion
Metabolic alkalosis
399
How are eating disorders managed in children?
Supportive: Psych. referral; Counselling; CBT; gradual refeeding (specialist care)
±
Medical: Fluoxetine
400
Outline the process of refeeding syndrome?
How is this managed?
Hypomagnesaemia
Hypokalaemia
Hypophosphataemia
Supportive: A-E; admission; Monitoring; Monitor fluid balance; ECG; electrolyte replacements
401
How is Tourette's managed in children?
Supportive: exposure with response prevention
± Tics
Medical: Guanfacine
402
State 5 potential complications of prematurity.
Respiratory Distress Syndrome
Patent Ductus Arteriosus
Necrotising enterocolitis
Intraventricular haemorrhage
Retinopathy of prematurity
403
Give 5 potential pathogenic causes of neonatal sepsis.
GBS
```
E. coli
Chlamydia
HSV
Gonorrhoea
Listeria
```
S. epidermidis
404
What pathogen is most likely to cause sepsis in a neonate who has received a central line?
A. S aureus
B. S pyogenes
C. S epidermidis
D. E coli
C
405
Outline the potential causes of neonatal jaundice.
<1 day: Rh incompatibility; ABO incompatibility; G6PD deficiency; hereditary spherocytosis; sepsis (GBS)
2days-2wks: Physiological jaundice
>2 wks: Sepsis; UTI; hypothyroidism; galactosaemia; G6PD; Hereditary spherocytosis;
Biliary atresia; neonatal hepatitis
406
What investigations would you wish to run in a neonate with jaundice?
```
FBC, U+Es, LFTs, TFTs, CRP,
Blood cultures
Haemolytic screen: Haptoglobin, Reticulocytes, LDH, DAT
Urine MC+S
Liver-US
```
407
How does phototherapy work in jaundice?
Blue light helps conjugate unconjugated Br into conjugated Br
408
What is the threshold for neonatal hypoglycaemia?
<2.6mmol/L
409
What are the potential causes of Neonatal Hypoglycaemia?
```
Prematurity
SGA
Macrosomia
Diabetic mother
Sepsis
Hyperinsulinaemia
Galactosaemia
BWS/CAH
```
410
Outline the main difference between Omphalocoele and Gastroschisis.
Omphalocele is a herniation of IA contents through the umbilicus WITH a sac
Gastroschisis is a herniation of IA contents through the R of the abdomen WITHOUT a sac
411
State 3 potential birthing injuries.
Ischaemic encephalopathy/Cerebral Palsy
Klumpke's Palsy
Erb's Palsy
Shoulder dystocia
DDH
Cephalohaematoma
Caput succadeum
Facial nerve injury
412
Draw out the sutures and bones of a foetal skull.
```
Include:
Metopic suture
Coronal suture
Sagittal suture
Lambdoid suture
```
Frontal bone
Parietal bone
Occipital bone
413
How can you determine the difference between type of infection in meningitis?
LP !!!
Bacterial: Cloudy; low glucose; high protein; high polymorphs
TB: Cloudy (fibrin web); low glucose; high protein; high lymphocytes
Viral: Clear; mildly reduced glucose; normal protein; high lymphocytes
414
What is the management for Kawasaki disease?
High-dose aspirin
+
IVIG
415
What is Reye's syndrome?
Progressive encephalopathy resulting from Aspirin use in child with Viral illness resulting in impaired FA metabolisation and damage to areas of FA metabolism e.g. Brain, Liver and Pancreas.
The peak incidence is 2 years of age, features include:
there may be a history of preceding viral illness
encephalopathy: confusion, seizures, cerebral oedema, coma
fatty infiltration of the liver, kidneys and pancreas
hypoglycaemia
416
What type of seizure is involved in Febrile Convulsions?
Brief generalised tonic-clonic seizure
417
What is the age range at which children may experience febrile convulsions?
6mo - 6 years.
418
What is the risk of developing epilepsy following a febrile convulsion?
1%
419
What is the risk of developing a further febrile convulsion following the first?
30%
420
What are the features of Epilepsy?
Generalised or Focal
Generalised: Absence; Tonic-Clonic (tightening and contractions); Myoclonic (groups of jerking); Atonic (drop attacks, with loss of muscle tone)
Focal: Frontal lobe (simple partial seizures); Temporal lobe (automatisms, deja vu, sensory phenomena); Parietal lobe (vertigo, distorted body image); Occipital lobe (visual symptoms)
421
When do absence seizures occur?
3-12 years old
422
What investigation proves an absence seizure?
Collateral history
3Hz spikes
423
What may precipitate an absence seizure?
Hyperventilation
424
When do infantile spasms occur most commonly?
4-6 months
425
What is the management for West Syndrome?
Vigabatrin or ACTH analogue
426
What are the characteristic findings of West Syndrome on EEG?
Hypsarrhythmia
High amplitude spikes + irregular spikes on EEG
427
What is Lennox-Gastaut Syndrome?
Myoclonic jerks; absence seizures; atonic seizure
428
What are the EEG findings of Lennox-Gastaut Syndrome?
1.25-2.5Hz spike + waves
429
What diet may help a Lennox-Gastaut Syndrome?
Ketogenic diet
430
What are the features of a Benign Rolandic Syndrome?
3-10 years
Tonic-clonic during sleep
Partial seizures affecting sensation thus paraesthesia
Rolandic spikes on EEG
431
What is Juvenile myoclonic seizures?
Myoclonic seizures after waking; worse from sleep deprivation
EEG shows multi-spike with fragmentation
432
What are the types of cerebral palsy?
Spastic - hypertonic; hyperreflexia, loss of power (hemiplegia, diplegia, quadriplegia)
Dyskinetic - chorea, athetosis
Ataxic - DANISH signs
433
What are the types of neural tube defect?
Anencephaly: Abnormal brain development - dies
Encephalocoele: herniation of brain through midline of skull
Myelomeningocoele: Abnormal spinal cord and exposed defect
Meningocoele: Normal spinal cord, defect covered with skin
Spina bifida occulta: Cord covered with bone and skin with overlying lesion e.g. lipoma/sinus/hair
434
What are the potential consequences of neural tube defects?
Depends on the type of neural tube defect
```
Lower limb paralysis
Sensory loss
Neuropathic bladder/bowels and UTIs/gastroparesis/constipation
Contractures
Scoliosis
```
435
What are the clinical features of Hydrocephalus in a child?
```
Irritability
Poor feeding
Headaches
Vomiting
Seizures
```
Enlarged head
Bulging fontanelles
Sunsetting eyes (downward deviation)
Papilloedema
436
What type of cell is degenerating in Spinal Muscular Atrophy?
A. Dorsal Horn
B. Myocyte
C. Anterior Horn
D. Fibroblast
C
437
What are the clinical features of Neurofibromatosis?
Cafe au Lait spots
Peripheral neurofibromas
Irish hamartomas (Lisch Nodules)
Scoliosis
Type 2: Bilateral acoustic neuromas
438
What are the clinical features of Tuberous Sclerosis?
Ashleaf spots
Shagren's nodules
Heart rhabdomyomas
Lymphangioleiomyomatosis
Epilepsy
Angiomyolipomata/Angiofibromas
Fibromas
439
Which cancer is linked to ataxia telangiectasia?
ALL
440
What are the clinical features of ataxia telangiectasia?
Telangiectasia
Ataxia
441
Which of the following blood markers may be elevated in Ataxia telangiectasia?
A. ALP
B. WBCs
C. AFP
D. Ca-19
C
442
How is Friedrich's ataxia inherited?
Autosomal recessive
GAA triplet expansion
443
Which of the following is not a clinical feature of Friedrich's Ataxia?
A. Extensor plantars
B. Brisk ankle reflex
C. Cardiomyopathy
D. Sensory ataxia
B - absent ankle reflexes
444
What is the inheritance of DMD?
X-linked recessive
445
What are the clinical features of DMD?
```
Global developmental delay
Waddling gait
Cardiomyopathy
Gower's sign
Pseudohypertrophy
Muscle wasting
```
446
What biochemical abnormality is often noted in DMD?
CK raised
447
Infants which are at risk of RSV can take which drug as prophylaxis?
Palivizumab
448
What pathogen causes Croup?
Parainfluenza virus
449
What are the clinical features of a severe asthma attack?
SpO2 <92%
Cannot finish full sentence
HR >140
RR >40
DIB
450
What are the clinical features of a life-threatening asthma attack?
```
SpO2 <92%
Silent chest
Poor respiratory effort
Confusion
Cyanosis
```
451
State 5 causes of a wheeze in a child
```
Post-viral wheeze
Asthma
Bronchiolitis
Foreign body inhalation
Aspiration/GORD
Mediastinal mass (e.g. Lymphoma)
```
452
What are the features of Kartagener's Syndrome?
Situs inversus
Chronic sinusitis
Bronchiectasis
453
What is the most common cause of Pneumonia?
S pneumonia
454
What is Sandifer syndrome?
Paroxysmal movement disorder featuring dystonic movements in association with GORD
455
What type of metabolic disturbance is seen in Pyloric stenosis?
Hypochloraemic hypokalaemia metabolic alkalosis
456
What are the potential causes of feeding difficulties in a baby? Give a defining feature for each.
Colic: Long cries, absence of other pathologies; resolves by 3 months
GORD: regurgitation, vomiting, uncomfortable during feeds
Allergic colitis: rash, raised IgE, Eosinophilia, failure to thrive
Pyloric stenosis: projectile, non-bilious vomiting, RUQ olive mass
Gastroenteritis: vomiting and diarrhoea; depleted fluid balance
Oesophageal atresia: choking and cyanotic spells
457
Give 3 potential causes of recurrent abdominal pain in children.
Abdominal migraine
GORD
Mesenteric adenines
IBS
458
How does DMSA scintigraphy work?
Dimercaptosuccinic acid (DMSA) localises to renal cortex thus helps see cortical defects such as scarring
459
How does MAG3 scan work?
Mercaptoacetyle triglycine is protein bound thus secreted by tubular cells thus useful for imaging kidneys in a renally-impaired patient
460
When should you refer for a single undescended testes?
What about both testes being undescended?
One = 3 months
Two = 24 hours
461
When is the surgery for an undescended testes conducted?
Orchidopexy at 1 year
462
What are the features of an innocent murmur?
Two types of murmur:
1) Still's murmur: LSE
2) Venous hum: Turbulent flow in great veins - continuous blowing noise
Soft - grade 1 or 2
Systolic
No thrill, no heave, no radiation
Chid well, asymptomatic
463
Give an example of cyanotic heart disease?
ToF
TGA
464
Which inherited syndrome is CoA associated with?
Turner Syndrome
465
What should NOT be given in CoA?
Do not give Indomethacin, give PGE2 to keep shunts open until angioplasty undertaken
466
What are the clinical features of ToF?
Mnemonic: PROV
Pulmonary stenosis
RV hypertrophy
Overarching aorta
VSD
467
What may exacerbate or relieve cyanosis?
Child squat to assist venous return
Cyanotic when crying
468
What is TGA?
Aorta from RV and PA from LV with blood mixing via foetal shunts
469
What are the clinical features of Rheumatic Fever?
Mnemonic: JONES
```
Joint involvement
O looks like heart - myocarditis
Nodules
Erythema marginatum
Sydenham chorea
```
470
Where is a neuroblastoma derived from?
Neuroendocrine tumour from sympathetic chain - usually adrenal in origin
471
Where is a rhabdomyosarcoma derived from?
Skeletal muscle tissue
472
What is a clinical feature of a Retinoblastoma?
No retinal reflex
Squint
Visual symptoms
473
What is an osteosarcoma? Where are they found?
What shows on X-Ray?
What is it linked to?
Cancer of the osteoblasts resulting in deposition of bone matrix which invade and destroy healthy tissue
Long bones prior to epiphyseal closure
Femur > Tibia > Humerus
XR shows Codman triangle (periosteal reaction) and sunburst pattern (fast growth with no new layer added down and Sharpey's fibres stretch out perpendicular to bone)
∆Rb gene thus links with Retinoblastoma
474
What is an Ewing's Sarcoma? Where are they found?
What shows on X-Ray?
What is it linked to?
Solid tumour derived mesenchymal cells but unsure which
Seen in pelvis and long bones - cause a lot of pain
XR: Onion skin appearance
PAIN
475
What are some of the potential complications of Down's Syndrome?
```
Hearing/visual impairment
CHDs
Hypothyroidism
Duodenal atresia
Coeliac disease
```
476
What are the clinical features of Turner's syndrome?
```
Webbed neck
Wide spaced nipples
Short
Normal IQ
CoA
Bicuspid aortic valve (aortic stenosis)
```
477
What are the clinical features of Patau Syndrome?
Trisomy 13
Microcephaly
Cleft palate
Polydactyly
Scalp lesions
478
What are the clinical features of Edward's Syndrome?
Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers
479
What are the clinical features of Fragile X syndrome?
```
Macrocephaly
Long face
Large ears
Macro-orchidism
Learning difficulties
```
480
What are the clinical features of Noonan Syndrome?
Webbed neck
Pes excavatum
Short stature
Pulmonary stenosis
481
What are the clinical features of William's syndrome?
Short stature
Friendly, extroverted
Supravalvular aortic stenosis
Transient neonatal hypercalcaemia
482
At what age should a child be able to pull self to sitting?
6 months
483
When should a child be able to sit without support?
8 months
484
When should a child be able to crawl?
9 months
485
When should a child be walking without support?
13-15 months
486
When should a child be cruising by?
12 months
487
When should a child be cruising by?
12 months
488
When should a child be able to run?
2 years
489
When should a child be able to ride a tricycle?
3 years
490
When should a child be able to hop on one leg?
4 years
491
When should a child be able to smile?
6 weeks
492
When should a child be laughing and enjoy friendly handling?
3 months
493
When should a child be able to use a spoon?
2 years
494
When should a child be able to use a spoon and fork?
3 years
495
When should a child be able to take off their shoes?
18 months
496
When should a child be able to dress and undress?
4 years
497
When should a child be able to wave bye-bye?
12 months
498
When should a child be able to play near others?
2 years
499
When should a child be able to hold using palmar grasp?
6 months
500
When should a child be able to point with their finger?
9 months
501
When should a child be able to use a good pincer grip?
12 months
502
When should a child be able to build a brick tower of 3?
18 months
503
When should a child be able to build a brick tower of 6?
2 years
504
When should a child be able to build a brick tower of 9?
3 years
505
When should a child turn towards sound?
3 months
506
When should a child be able to say mama and dada?
9 months
507
When should a child recognise their own name?
12 months
508
When should a child be able to combine 2 words?
2 years
509
When should a child be able to use 3-5 words?
3 years old
