Paediatrics Flashcards
1
Q
At what age should a child be able to hop on one leg?
A
From the age of 4
2
Q
What is the normal gross motor developmental progress be of a newborn?
A
Limbs flexed, symmetrical pattern
Marked head lag on pulling up
3
Q
What is the normal gross motor developmental progress be of a 6-8week old?
A
Raises head to 45 degrees in prone (tummy-time)
4
Q
What is the normal gross motor developmental progress be of a 6-8month old?
A
Sits without support (initially with a round back, then eventually with a straight back by 8 months)
Limit age: 9 months
5
Q
What is the normal gross motor developmental progress be of a 8-9month old?
A
Crawling
6
Q
What is the normal gross motor developmental progress be of a 10month old?
A
Standing independently
Cruising around furniture
7
Q
What is the normal gross motor developmental progress be of a 12month old?
A
Unsteady walking - broad gait, hands apart
8
Q
What is the age limit of early unsteady walking?
A
18 months
9
Q
What is the normal gross motor developmental progress be of a 15month old?
A
Walking steadily
10
Q
What is the normal gross motor developmental progress be of a 2.5 year old?
A
Running and jumping
11
Q
What is the normal respiratory rate of a child aged 2-5years old?
A
20-30 breaths per minute
12
Q
What is the normal respiratory rate for a child under 1 years old?
A
30-40breaths per minute
13
Q
At what age would a child develop a palmar grasp?
A
4-6 months
14
Q
At what age would a child develop a mature pincer grip?
A
10 months
Limit age of 12 months
15
Q
What is urticaria?
A
An itchy blotchy red rash resulting from swelling of the superficial part of the skin
16
Q
What is the typical presentation of urticaria?
A
- Central itchy white papule or plaque due to swelling of the surface of the skin (wheal).
- Surrounded by an erythematous flare
- Lesions variable in size and shape and may be associated with swelling of soft tissues of eyelids, lips and tongue
17
Q
What are the possible triggers of acute urticaria?
A
Allergies: foods, bites, stings, medication
Viral infections
Skin contact with chemicals, nettles, latex, etc
Physical stimuli: firm rubbing (dermatographism), pressure, cold, heat
18
Q
What is psoriasis?
A
- Chronic, relapsing inflammatory skin disorder
- Can start at any age including childhood
19
Q
How is urticaria diagnosed?
A
Usually from history and clinical findings alone
20
Q
How is urticaria managed?
A
- Avoiding triggers
- Antihistamines, emollients
- In severe cases, prednisolone for a short duration
21
Q
What is chronic plaque psoriasis characterised by?
A
- Itchy, well-demarcated circular-to-oval bright red/pink elevated lesions (plaques) with overlying white or silvery scale
- Distributed symmetrically over extensor body surfaces
22
Q
How might plaque psoriasis present in children?
A
With the plaques being less thick and the lesions are being less scaly.
23
Q
Where may psoriasis appear in infancy?
A
In the nappy region as well as the extensors
24
Q
What does atopic eczema present as?
A
Dry, red, itchy, inflamed skin over flexural regions (e.g. popliteal fossa/antecubital fossa)
25
What is Eisenmenger's Syndrome?
An initial left to right shunt becomes a right to left shunt due to increased pulmonary blood flow and eventual right ventricular hypertrophy
26
What is epiglottitis?
Inflammation and swelling of the epiglottis, usually secondary to infection
27
What are the symptoms of epiglottitis and how does it progress?
Sore throat
Difficulty and pain on swallowing
Respiratory distress (may improve leaning forward)
Stridor
Fever
Irritability/restlessness
Muffled/hoarse 'hot potato' voice
Drooling
Symptoms progress quickly, but may be slower and take a few days in older children
28
How is epiglottitis treated?
1. Admission to hospital - airway secured and supplemental oxygen administration immediately
2. IV fluids and antibiotics
29
What are the features of bronchiolitis?
- Coryzal symptoms
- Increased work of breathing (Subcostal recession, head bobbing)
Difficulty in feeding
30
What is bronchiolitis most commonly caused by?
Respiratory synctial virus (RSV)
31
What is the primary cause of croup?
Parainfluenza
32
What is primary age group affected by bronchiolitis?
3-6 months
33
What is cryptochidism?
An undescended testicle, seen in 2-5% of term males
34
What are the risk factors for cryptorchidism?
Prematurity
Small for gestational age
35
What are the complications of cryptorchidism?
Testicular torsion
Increased infertility
Increased rates of testicular cancer
36
What would the treatment for cryptorchidism be?
Orchipexy by the age of 12 months if the testicles have not spontaneously descended by 6 months of age
37
What is meconium?
The first stool passed by a child
38
What is Bartter Syndrome?
An inherited defect in the thick ascending limb of the loop of Henle
- Characterised by hypokalaemia, alkalosis and normal to low BP
39
What would GORD present as in children?
Vomiting
Effortless regurgitation of milk
Cough
40
What would pyloric stenosis present with in children?
Progressively worsening non-bilious vomiting
Hypokalaemia, metabolic alkalosis
Dehydration
41
What features in an ill child would prompt consideration of meningococcal disease?
Petechial rash
Altered mental state
Cold hands and feet
Extremity pain
Fever
Headache
Neck stiffness
Skin mottling
42
What would initial management of suspected meningococcal septicaemia be in primary care?
IM or IV benzylpenicillin
Urgent ambulance transfer to hospital
43
Which diseases does the 4 in 1 pre-school booster vaccine protect against?
Diphtheria
Tetanus
Whooping cough
Polio
44
What is orbital cellulitis?
Infection behind the orbital septum
A medical emergency requiring hospital admission and IV antibiotics
45
What are the symptoms of orbital cellulitis?
Pain on eye movement
Reduced eye movements
Changes in vision
Abnormal pupil reactions
Forward movement of the eyeball (Proptosis)
46
What is periorbital cellulitis, and what are its symptoms?
- Eyelid and skin infection in front of the orbital septum
- Presents with:
Swelling
Redness
Hot skin around eyelids and eye
47
How would you differentiate between orbital and periorbital cellulitis?
CT Scan
Clinical presentation:
- Pain on eye movement, changes in vision, pupil reactions and proptosis not present in periorbital cellulitis
48
How would you treat periorbital cellulitis?
Systemic antibiotics (Oral or IV)
Admission in children or in severe cases
49
How would you manage orbital cellulitis?
Admission and IV antibiotics
Surgical drainage in case of abscess formation
50
What is Brachydactyly?
Shortening of the fingers and toes due to unusually short bones.
51
What are the clinical features of septic arthritis?
- Refusal to bear weight
- Reduced passive range of motion
- Pain on palpation of the affected joint
- Leukocytosis
- Elevated inflammatory markers (ESR, CRP)
- Fever
52
What are the common pathogens causing septic arthritis?
Staphylococcus aureus
N Gonorrhoea
Streptococcus (Group A and B)
53
How is septic arthritis diagnosed?
Immediate joint aspiration with synovial fluid analysis
Results:
Appearance: yellow/green on aspiration (as opposed to clear and colourless when uninfected)
White cell count: raised (particularly neutrophil count), though this is not 100% sensitive or specific and can be raised in other arthropathies
Culture: identification of the causative bacterium and its sensitivities
54
What is transient synovitis and what are its symptoms?
- A benign, self-limiting condition following an upper respiratory infection, acute otitis media or pharyngitis
- Symptoms:
Mild fever
Full range of motion of affected joint
Mild pain
55
How would transient synovitis be diagnosed?
Through exclusion after septic arthritis has been ruled out
56
What is the most common cause of vasculitis in childhood?
Henoch-Schonlein Purpura (HSP)
57
What are the clinical features of HSP?
- Palpable purpura usually on buttocks and lower extremities
- Abdominal pain
- Arthritis - usually large joints
Usually occurs after previous history of upper respiratory tract infection several weeks prior
58
What is pyloric stenosis caused by?
Hypertrophy of the pylorus resulting in functional gastric outlet obstruction
59
How do patients with pyloric stenosis present?
Projectile vomiting that is usually non-bilious and non-bloody
60
What clinical findings would be present upon examination in pyloric stenosis?
- An enlarged pylorus, classically described as an "olive," can be palpated in the right upper quadrant or epigastrium of the abdomen
- Visible peristalsis due to the obstruction
-
61
How would pyloric stenosis be definitively treated?
Pyloromyotomy - relieve the obstruction
- Involves an incision being made in the longitudinal and circular muscles of the pylorus.
62
What may Meckel's Diverticulum present with?
- Abdominal pain
- GI bleeding and/or bowel obstruction
63
What would duodenal atresia present with?
- Abdominal distension
- Non-bilious vomiting
- Absent bowel movements
64
What would complete atresia present as?
- The atretic segment is usually just distal to the ampulla of Vater
- Bilious vomiting
65
What does double syllable babble involve?
Repetition of the same syllable
- Typically displayed by infants between 9-12 months
66
What is the most important step in treatment for measles?
Isolation - VERY CONTAGIOUS
67
Which presenting features would be strongly indicative of measles?
- Rash for at least three days - first seen on the neck and spreads to involve trunk and limbs
- Fever for at least one day and at least one of:
Cough
Coryza
Conjunctivitis
- Koplik spots - pathognomonic for measles
68
What are the diagnostic criteria for Kawasaki disease be?
Fever persisting for at least 5 days and 4 or more of:
1. Changes in extremities (erythema or oedema of hands or feet)
2. Polymorphous exanthema (widespread rash)
3. Bilateral, painless bulbar conjunctival injection without exudate
4. Changes in lips and oral cavity
5. Cervical lymphadenopathy.
69
What would the immediate management of Kawasaki disease be?
IVIg 2g/kg over 12 hours and aspirin 30-50mg/kg in four divided doses
70
What investigations are necessary in Kawasaki disease?
ECG and Echocardiogram - look for coronary artery aneurysms or damage to the heart muscle/valve
71
What does Williams Syndrome present as?
- Typical facial features - elfin facies - broad forehead, short nose, wide mouth, full lips
- Behavioural abnormalities
- Supravalvular aortic stenosis
- Hypercalcaemia
72
What does Noonan syndrome present with?
- Webbed neck, low set ears and short neck
+/- Pulmonary valve stenosis
73
What does Down's syndrome present with?
- Facial features - upward slanting of eyes
- Epicanthal folds
- Hypotonia
- Single palmar crease
- Protruding tongue
- Half of patients will have cardiac defect, commonly AVSD
74
What is Von Willebrand's disease?
Most common genetic bleeding disorder - inherited in an autosomal dominant manner
75
What is Von Willebrand Factor (vWF)?
Large glycoprotein which:
- Promotes platelet adhesion to a damaged endothelium (which helps form the platelet plug)
- Acts as a carrier molecule/stabiliser for factor VIII
- Stabilises factor VIII - lack of vWF will prolong APTT time
76
What investigations would be completed if Von Willebrand's disease was suspected?
- Baseline blood tests (FBC): patients with profuse bleeding should have two wide-bore cannulae inserted with blood taken for a full blood count. APTT time will be increased.
- Group and save: important to perform as the patient may require a blood transfusion.
- Coagulation studies: should be performed if there is clinical evidence of coagulopathy, or the patient is taking an anticoagulant
77
What does APTT measure?
Factors 9-12, 5 and 2
(The intrinsic and common pathways)
78
What does Prothrombin time measure?
Factors 7, 10, 5 and 2
(Extrinsic and common pathways)
79
What is Potter's Syndrome?
Characteristic appearance and pulmonary hypoplasia of a neonate due to oligohydramnios and thus compression in utero
80
What are the causes of Potter's syndrome?
Renal agenesis
Obstructive uropathy
Cystic kidney disease (eg autosomal dominant polycystic kidney disease)
Early rupture of membranes
81
What are the features of Potter's syndrome?
Flattened nose, recessed chin, prominent epicanthic folds and low set abnormal ears
Skeletal: hemivertebrae, sacral agenesis, limb anomalies
Ophthalmology: cataract, lens prolapse, haemorrhage
Cardiovascular: tetralogy of Fallot, VSD, patent ductus arteriosus
82
How would oligohydramnios be analysed?
(Not sure if relevant to 3a exam?)
1. Ferning test - dried cervical secretions crystals viewed under microscope
2. Amnisure - vaginal swav to screen for PAMG-1 (Placental microglobulin-1)
3. Actim-PROM - swab screening for insulin-like growth factor binding protein-1 (IGFBP-1)
83
How would fluid volume be assessed?
Ultrasonography using one of:
1. Maximum vertical pocket (MVP) identified and measured - normally 2cm-8cm
2. Amniotic fluid index (AFI) - dividing uterus into 4 quadrants, adding together MVP from each quadrant - normal AFI 5cm to 25cm
84
How is oligohydramnios defined?
On ultrasound:
AFI <5cm OR
MVP <2cm
85
What are the clinical pathologies of the Tetralogy of Fallot?
1. Overriding aorta
2. Right ventricular hypertrophy
3. Right ventricular outflow obstruction (pulmonary stenosis)
4. Ventricular septal defect
86
What is Perthes's disease?
- Caused by idiopathic avascular necrosis of the femoral head
- Lack of blood supply causes it to soften and break apart
87
What is the characteristic progression of Perthes disease?
1. The essential lesion is loss of blood supply (avascular necrosis) of the nucleus of the proximal femoral epiphysis.
2. Abnormal growth of the epiphysis results.
3. Eventual remodelling of regenerated bone.
88
What are the features of Perthes disease?
- Onset over weeks, no hx of trauma
- Limitation of hip rotation and a subacute limp, sometimes with pain referred to groin thigh or knee
- Typically unilateral (10% bilateral)
- Antalgic gait
- Roll test invokes guarding or spasm
89
What are the investigations of Perthes disease?
- FBC and ESR
- X-Ray - Progressive loss of joint space and bone loss around the femoral head and neck
90
What would the non-operative treatment for Perthes disease be?
Restriction of activities and weight-bearing until ossification is complete.
Physiotherapy
NSAIDs
91
What would the operative treatment for Perthes disease be?
Femoral or pelvic osteotomy.
Valgus or shelf osteotomies.
Hip arthroscopy.
Hip arthrodiastasis (controversial).
92
What are febrile seizures?
Seizures generally occurring between 6 months and 5 years, triggered by fever often due to infection
- Other causes e.g. hypoglycaemia, hypomagnesemia are absent
93
What would positive Kernig's sign indicate?
CNS infection:
Meningitis
Encephalitis
94
What causes Henoch-Schonlein purpura?
IgA mediated vasculitis often post-infection
95
What would be the management for HSP be?
Admission to monitor for development of nephrotic syndrome and intussusception
96
Before causative organism is know, how would suspected causes of sepsis be treated?
- IV 3rd generation cephalosporin - cefotaxime
- IV amoxicillin
97
What causes measles?
A paramyxovirus
98
What are koplik spots?
- Pathognomonic spots in measles
- Small bright red spots with white centre on the buccal mucosa
- Precede the measles rash by 1-2 days
99
What would scarlet fever typically present with?
- Maculopapular "sandpaper rash" that feels rough on palpation
- Rash classically spares the area around the mouth - perioral pallor
- Bright red "strawberry tongue"
- Sore throat
- Fever
- Headache, nausea, fatigue, vomiting
- Cervical lymphadenopathy
100
What are the features of Rickets?
Condition caused by vitamin D deficiency
- Delayed motor development due to hypotonia and poor bone growth
- Often associated with predominant milk
- Delayed closure of anterior fontanelle
- Craniotabes
- Rachitic rosary
- Widening of wrist joint and sometimes ankle joint
- Severe cases - bowing of legs and short stature
101
What would investigations of Rickets show?
- Low Vitamin D levels
- Low serum calcium and phosphorus
- High Alkaline Phosphatase
X-Ray:
- Cupping and fraying of ends of long bones (radius and ulna)
- Osteopenia
102
What would treatment of Rickets be?
- Sun exposure
- Calcium and Vitamin D rich diet
- Supplementation of vitamin D and calcium
103
What criteria is used to diagnose functional constipation?
ROME III
104
What would be seen in functional constipation
- Passage of stool twice or fewer times per week or passage of hard stool
- Associated abdominal pain
- No abdominal distension and no impact on growth
105
What would hypothyroidism present with in children?
- Constipation
- Short height
- Developmental delay
106
How would anal fissures present in children?
- Painful defecation
- Worse on hard stool
107
What would Hirschsprung's disease present with?
- Constipation with associated abdominal distension
- Abdominal pain
- Vomiting
- May be history of delayed passage of meconium during the neonatal period
108
What is the most common cause of haematemesis in children?
Extrahepatic portal vein obstruction (EHPVO)
109
What would extrahepatic portal vein obstruction present with?
Haematemesis
- Child is typically well
110
What is b thalassaemia?
An inherited disorder affecting the production of Hb chains in the red blood cell
Results in microcytic and hypochromic anaemia
111
What anaemia is found in b thalassaemia?
Microcytic hypochromic anaemia
(Low mean corpuscular/cell volume)
(Low mean cell haematocrit
112
What anaemia is found in cobalamin (B12) deficiency
Megaloblastic, macrocytic anaemia
113
Which 9 conditions are screened in newborns using heel-prick test?
1. Congenital hypothyroidism
2. Sickle cell disorder
3. Cystic fibrosis
4. Phenylketonuria
5. Medium-chain-acyl-CoA dehydrogenase deficiency
6. Maple syrup urine disease
7. Isovaleric acidaemia
8. Glutaric aciduria type 1
9. Homocystinuria
114
What are the respective signs of puberty in each sex?
Breast budding is the first pubertal sign in females.
Testicular enlargement is the parallel sign in males.
115
What is Turner's Syndrome?
- A sex chromosome disorder of female sexual development (45, XO).
116
What are the symptoms of Turner's syndrome?
- Short stature
- Ovarian dysgenesis
- Lymphatic defects
- Cystic hygroma
- Webbed neck
- Lymphoedema
- Preductal coarctation of the aorta (Hypertension in upper extremities and weak pulses in the lower extremities)
117
What is minimal change disease?
- Most common cause of nephrotic syndrome in children
- Characterised by peripheral oedema associated with heavy proteinuria, hypoalbuminaemia and hyperlipidaemia
- Nephrons appear normal under optical microscope
118
How is nephrotic syndrome defined?
Heavy proteinuria (≥3.5 g/day); and
Hypoalbuminaemia (serum albumin ≤30* g/L)
Peripheral oedema.
119
What are the signs and symptoms of nephrotic syndrome?
Oedema
Hypovolaemia
Symptoms of infection
Breathlessness
120
How is patent ductus arteriosus treated?
IV Indomethacin
Prostacyclin synthetase inhibitors
121
How would a patent ductus arteriosus be kept open?
Prostaglandin infusion
122
What is tinea corporis?
Infection of the trunk, legs or arms with a dermatophyte fungus
(Also known as ringworm)
123
What are the symptoms of tinea corporis?
- Rash presenting as enlarging raised red rings with central area of clearing
- Edge of the rash is elevated and scaly to touch
- Sometimes skin surrounding rash may be dry and flaky
124
How is tinea corporis diagnosed?
Clinically
Skin scrapings may be sent for microscopy - showing hyphae and spores
125
What is the management for tinea corporis?
Topical antifungal continued for 2 weeks after lesions disappear:
- Clotrimazole
- Ketoconazole
- Miconazole
Steroids may be used with intense inflammation for maximum of 1 week
126
What would immediate management of epiglottitis be?
- Avoid stressing the child, as airway can quickly become compromised
- Avoid examination of throat and invasive procedures
- Call for a senior paediatrician and anaesthetics/ENT support
127
What are the clinical features of pityriasis rosea?
- Rash starting as singular patch and then spreading to involve trunk
- Initial patch typically measures 2-5cm in diameter - oval or round with a central wrinkled salmon coloured area, separated from a dark-red peripheral zone by fine scales
128
What does impetigo present with?
Honey-coloured crusted plaques that tend to be under 2cm in diameter
- Usually on face but also may be on extremities
- Regional lymph node involvement
129
What causes impetigo?
Most commonly Staphylococcus aureus or Streptococcus pyogenes
130
What causes erythema infectiosum?
Parvovirus B19
131
What would the prodromal phase of erythema infectiosum be?
- Approximately 1 week after exposure
- Headache, rhinitis, sore throat, low-grade fever and malaise
132
What would be present in the main phase of erythema infectiosum?
- After 7-10 days from the prodromal phase a "slapped cheek" rash appears as erythema on the cheeks, sparing the nose, perioral and periorbital regions
- After a few days an erythematous macular rash develops on extremities, mainly on extensor surfaces
133
What causes Molluscum contagiosum?
Pox virus
Transmitted through direct skin contact - infectious so long as lesions are present
134
What lesions are present in molluscum contagiosum?
- Firm, smooth, umbilicated papules, usually 2-5mm in diameter
- May be the colour of skin, white, translucent or slightly yellow
135
What is the usual developmental order of drawing shapes?
1. Line
2. Circle
3. Cross
4. Square
5. Triangle
136
How soon before being able to draw a shape can a child copy it?
6 months
137
What could the presentation of meningitis/meningococcal sepsis be in neonates?
Seizures
Bulging fontenelle
Tachycardia, cyanosis, increased temperature
138
What are the risk factors for neonatal sepsis?
- Preterm
- Low birth weight
139
When would early-onset neonatal sepsis present?
Within the first 48-72 hours of life
140
When would late-onset neonatal sepsis present?
After the first 72 hours of life
141
What is the treatment for meningitis ages <3 months?
IV Amoxicillin and IV cefotaxime
142
What is Haemophilia A?
An X-Linked recessive disease
Occurs due to deficiency of factor VIII
143
What are the symptoms of Haemophilia A?
1. Severe epistaxis
2. Bleeding gums
3. Haematuria: gross or microscopic (i.e. detected on dipstick).
4. Intra-articular or intramuscular bleeds: commonly affected joints include the knees, ankles and elbows.
5. Excessive bruising/ecchymoses, contusions or spontaneous haemorrhage during childhood play.
6. Prolonged bleeding after a surgical or dental procedure, or post-venepuncture.
144
What would investigations of Haemophilia A show?
- Prolonged APTT
- Normal PT
145
What would acute leukaemia present with?
Fever
Lethargy
Pallor
Petechiae
146
How would symptoms of acute leukaemia be investigates?
- FBC - High white cell counts, anaemia, thrombocytopenia
- Bone marrow aspirate/biopsy - required for diagnosis
147
Why do petechiae occur in idiopathic thrombocytopenic purpura?
Due to low platelet counts
148
What may clinical examination in a patient with haemophilia show?
Bruising
Haematoma
Active bleeding
Joint swelling (Haemarthrosis)
149
What is intussusception?
Commonest cause of childhood intestinal obstruction
- Caused by 'telescoping' of the small bowel in on itself
- Typically occurs at 3-12 months
150
What are the signs and symptoms of intussusception?
- Inconsolable crying
- Drawing up of the legs (Indicative of colic)
- Vomiting
- PR blood (Like redcurrant jelly, or just flecks)
151
What may be seen on examination in intussusception?
'Sausage-shaped' abdominal mass in the right upper quadrant of the
152
How is intussusception investigated?
Ultrasound scan
(Also used to guide reduction by air enema)
153
What is Hirschsprung's disease?
Absence of myenteric plexus at the rectum - results in constipation, loading and dilatation of the normally innervated bowel immediately before affected section
154
What are the risk factors for SIDS (Sudden Infant Death Syndrome) relating to baby?
Sleeping position (prone sleeping, use of blankets)
Male gender
Age 2-4 months
Prematurity/low birth weight
Formula feeding
155
What are the risk factors for SIDS (Sudden Infant Death Syndrome) relating to mum?
Smoking in pregnancy
Alcohol or substance abuse
Age less than 20 at first pregnancy
156
When can a child turn one page of a book at a time?
At 3 years
157
When will a child develop mature pincer grip?
1 year
158
When will a child be able to turn several pages of a book at a time?
2 years
159
When will a child be able to draw a cross?
4 years
160
What causes chickenpox?
Varicella-zoster virus
161
What is the incubation period of chickenpox?
10-14 days between exposure and first skin lesions
162
What are the initial presenting features of chickenpox?
Pyrexia
Headache
Malaise
Abdominal pain
163
What do skin lesions present with in chickenpox?
Crops of vesicles present over 3-5 days
- Typically on the head, neck and trunk - less on the limbs
- Lesions are intensely itchy
- Pass through stages of papule, vesicle, pustule and crust
164
When are the skin lesions infectious from in chickenpox?
From a few days before the onset of lesions until crusts fall off
165
How is chickenpox diagnosed?
Diagnosed clinically
166
What causes measles?
A single-stranded RNA Morbillivirus
167
Between the ages of 1 to 5, what clinical signs would indicate an acute severe exacerbation of asthma?
1. Heart rate >=145bpm
2. Oxygen saturations <92%
168
What is necrotising enterocolitis?
Condition in which the bowel becomes ischaemic
- Typically occurs in newborns that are either premature or otherwise unwell
169
What are the symptoms of necrotising enterocolitis?
Typical symptoms:
- A new feed intolerance
- Vomiting (which may be bilious)
- Haematochezia (fresh blood in the stools)
- Bloating, decreased activity
170
What are the risk factors for necrotising enterocolitis?
Congenital heart disease
Birth asphyxia
Exchange transfusion
Prematurity
Prolonged rupture of membranes
171
What are the typical examination findings in necrotising enterocolitis?
Abdominal distension
Reduced bowel sounds
Palpable abdominal mass
Visible intestinal loops
Signs of sepsis
172
What are the typical presenting features of Duchenne's muscular dystrophy?
Progressive weakness: starting proximally and moving distally with the lower limbs being affected before the upper limbs.
Delayed motor milestones: typically the ability to walk independently.
Waddling gait
173
What are the clinical findings in muscular dystrophy?
Weakness: typically the proximal and distal leg muscles in the earlier phases of the disease.
Calf pseudohypertrophy: due to the accumulation of connective tissue and fat replacing muscle tissue.
Waddling gait: typically exacerbated when attempting to run.
Tip-toe walking: occurs due to shortening of the Achilles tendon.
Gower’s sign: the child climbs up their legs when rising from the floor.
Hyporeflexia or areflexia
Loss of the arches of the feet (i.e. flat feet)
Difficulty or inability to squat
174
What is the classical triad of haemolytic-uraemic syndrome?
1. Microangiopathy haemolytic anaemia
2. Thrombocytopenia
3. Acute kidney injury
175
How can haemolytic-uraemic syndrome be investigated?
FBC
Peripheral blood smear
Renal function studies
Urinalysis
176
What can cause haemolytic-uraemic syndrome?
Primary causes:
- Complement dysregulation disorders
- Mutations of proteins in coagulation pathway and cobalamin metabolism
Secondary causes (More common):
- Infectious disease - Shiga toxin-producing Escherichia coli, pneumococcus
177
What commonly causes epiglottitis?
Haemophilus influenzae type B (HiB)
178
How does coeliac present in children?
Failure to thrive (stunted growth, growth chart faltering)
Chronic diarrhoea
Constipation (coeliac disease should be considered whenever diagnosing idiopathic constipation)
Abdominal bloating
Irritability
Features of anaemia (adolescents)
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What is important to cover in a coeliac history?
Family history: coeliac disease often runs in families and those with an affected first-degree family member have around a 10% chance of developing it.
Associated conditions: there are a range of conditions that, if present, would increase the risk of coeliac disease.
180
What can be identified in clinical examination in children with coeliac disease?
Failure to thrive (although less common due to increased calorific diets in modern western diet)
Abdominal distension
Abdominal pain
Muscle wasting (usually the buttocks are predominantly affected)
Features of anaemia (adolescents) e.g. angular cheilitis, fatigue and pallor
181
What causes Coeliac disease
Immune-mediated, inflammatory systemic disorder to a protein in gluten
Gluten is found in wheat, rye and barley
182
In the first 12 months of life, what are the relevant speech and hearing developmental milestones?
Birth: Quiets to voice
6-8 weeks: Vocalises
3 months: Turns to sound
4-5 months: Squeals
6-9 months: Babbles - turns to voice
10-12 months - double syllable babble - Da-Da
183
From 12 months to 5 years what are the relevant speech and hearing developmental milestones?
13 months: Single words
18 months: Knows 1 body part
2 years: Speaks 2-word sentences ~50 words, names 2 body parts
3 years: Can say name, age, sex, Asks "What's that", counts to 10, can name 5 body parts
4 years: Uses past tense, can count to 20
5 years: Knows colours, age, address
184
What is syndactyly?
Being born with toes or fingers joined together
185
What is polydactyly?
Being born with extra toes or fingers
186
What is polysyndactyly?
Being born with extra fingers, some of which are fused together
- Results as a failure of apoptosis
187
What is Osgood-Schlatter disease?
Disease occurring as a result of the strength of the quadriceps muscle exceeding ability of the tibial tuberosity to resist its pull
188
How would Osgood-Schlatter disease present?
Gradual onset pain and swelling over the tibial tuberosity exacerbated with exercise
- Presenting most commonly between 12 and 15 years
189
How would Osgood-Schlatter disease be investigated?
X-Ray
- Shows irregularity of apophysis, separation from the tibial tuberosity in early stages and fragmentation in later stages
190
What is the management for Osgood-Schlatter disease?
Rest, reduced exercise intensity
Physiotherapy
- Most cases resolve as the growth plates ossify
191
What is a barky, seal-like cough characteristic of?
Croup
192
What is the management of bronchiolitis?
Mainly supportive
- Oxygen supplementation when sats <92%
- CPAP or High flow oxygen if respiratory distress
- NG Tube if child does not have adequate feeding/fluid intake
193
When is hospital admission indicated in bronchiolitis?
Apnoeas
Reduced oxygen saturation: <92%
Reduced oral intake: <50-75% of normal
Persistent respiratory distress: significant chest recessions, grunting
Presence of risk factors for severe disease
Difficult social factors: living very far from the hospital, lack of parental confidence
194
What is the management of psoriasis
Emollients to moisturise dry skin, reduce scale and relieve itching
Topical steroids to reduce skin inflammation
Tar preparations to reduce scaling and slow skin overgrowth
Dithranol for stubborn plaques of psoriasis on ‘non-delicate’ skin such as elbows and knees
Vitamin D analogues (calcipotriol, tacalcitol, and calcitriol) help regulate the immune system in the skin and slow the overgrowth of skin
195
What are the characteristics of guttate psoriasis?
Multiple small, scaly plaques distributed across the trunk and limbs
- Resemblance of raindrops
196
When should solid foods be introduced into an infant's diet?
6 months
197
What is post-infectious glomerulonephritis?
Inflammatory reaction within glomeruli, typically occurring 1-4 weeks after a pharyngeal infection with a bacterium
198
Infection with what bacteria classically precedes post-infectious glomerulonephritis?
Streptococcus pyogenes
199
How does post-infectious glomerulonephritis present?
Malaise
Slight fever
Nausea
Mild nephritic syndrome:
- Increased BP
- Gross haematuria
- Smoky-brown urine
200
How is post-infectious glomerulonephritis diagnosed?
Antistreptolysin-O antibodies
- Levels begin to rise after 1-3 weeks of Strep infection, peak at 3-5 weeks and fall back to insignificant levels within 6 months
201
How does pyelonephritis present?
Renal angle pain
Vomiting
Rigors
Sepsis
202
Which factor is affected in Haemophilia A?
Factor VIII
203
Which factor is affected in Haemophilia B?
Factor IX
204
What is the inheritance pattern of phenylketonuria?
Autosomal recessive
205
What are febrile convulsions?
Seizures occurring at the beginning of a febrile illness
- Usually tonic-clonic seizures and last for less than 5 minutes
206
What are the relevant investigations needed to rule out other forms of seizures in febrile convulsions?
1. Blood glucose
2. Electrolytes - to check for electrolyte imbalances
3. Full blood count, CRP, blood culture - to screen for infection
4. EEG
5. MRI - to look for mass lesions
207
How are febrile convulsions treated?
Treating fever
IV/Rectal diazepam if necessary
208
What ages are most likely to have febrile convulsions?
Ages 6months to 6years of age
209
What is the typical presentation of diphtheria?
1. Nasal discharge, initially watery but becomes purulent and blood-stained
2. Membranous pharyngitis - fever, enlarged anterior cervical lymph nodes, oedema of soft tissues giving a bull-neck appearance
3. Respiratory obstruction
210
What are the long-term effects of diphtheria toxins?
- Cardiomyopathy and myocarditis, usually evident by 10th to 14th day
- Neuritis affecting motor nerves, paralysis of soft palate, ocular nerves, peripheral nerves and diaphragm
- Nephritis
Thrombocytopenia
211
What is the characteristic cutaneous infection of diphtheria?
Mild, but chronic:
1. Vesicles or pustules that quickly rupture to form a punched-out ulcer ~several cm in diameter
2. Often appears on lower legs, feet and hands
3. Painful in first week or two, covered with dark pseudomembrane which separates to show haemorrhagic base
212
How is diphtheria definitively diagnosed?
Through a positive culture from respiratory tract secretions or cutaneous lesions
Positive toxin assay
213
How is diphtheria managed?
1. Abx - erythromycin, azithromycin, clarithromycin or penicillin
2. Immunisation in the convalescent stage
3. Management of contacts - given antibiotic prophylaxis
214
Which bacterium is responsible for diphtheria?
Corynebacterium diphtheriae
- Gram-positive, aerobic, non-motile, rod-shaped bacterium
215
What is biliary atresia?
Condition of uncertain cause in which all or part of the extrahepatic bile ducts are obliterated by inflammation and subsequent fibrosis
- Leads to biliary obstruction and jaundice
216
How does biliary atresia present?
Persistent jaundice
Pale stools
Dark urine
Splenomegaly after 3 months - sign of portal hypertension
Failure to thrive - result of poor absorption of long-chain fats and catabolic state
217
How is biliary atresia investigated?
LFTs - conjugated hyperbilirubinaemia, high GGT
Ultrasound and hepatobiliary scintigraphy - differentiate atresia from neonatal hepatitis
218
How is biliary atresia managed?
Surgery - Kasai portoenterostomy and liver transplantation
Medical - abx to prevent cholangitis, ursodeoxycholic acid to encourage bile flow, fat soluble supplementation and nutritional support
219
What is Barlow's test?
Physical examination performed on infants to screen for developmental dysplasia of the hip
- Adduction of the hip (bringing the thigh towards the midline) while applying light pressure on the knee, directing the force posteriorly
- Positive if hip can be dislocated
220
What is the Ortolani manoeuvre?
Flexing the hips and knees of a supine infant to 90 degrees, then placing anterior pressure on the greater trochanters
Then smooth and gentle abduction of the legs - positive sign is a distinctive clunk
221
What is slipped femoral epiphysis?
Fracture in the growth plate, resulting in slippage of the metaphysis
222
What is Osteogenesis imperfecta?
Genetic disorder that results in bones which break easily - disorder of collagen type I
223
How do patients with slipped femoral epiphysis present?
Groin pain
Pain extending along distribution of the obturator nerve
Reduced range of motion in flexion and abduction
Antalgic gait
224
How do patients with Osteogenesis imperfecta present?
Blue sclera
Short height
Loose joints
225
What is developemental dysplasia of the hip?
A condition in which the femoral head has an abnormal anatomical relationship with the acetabulum
- Leads to abnormal bony development which often results in premature arthritis and significant disability
226
What is transposition of the great arteries?
Anatomical reversal of the aorta and pulmonary artery
- Not typically picked up on routine antenatal scans
227
What is scarlet fever caused by?
Streptococcal infection
228
What does Juvenile idiopathic arthritis present with?
Non-specific presentation involving extended period of:
- Fever
- Arthritis
- Rash
229
What is Reye's Syndrome?
Rapidly progressive encephalopathy
- Caused by high-dose aspirin
- Damage to mitochondria in the liver, leading to ammonia buildup
230
What is retinoblastoma?
Embryonal tumour of the retina
Most common malignancy of the eye in children
- 40% caused by a hereditary mutation on chromosome 13 - retinoblastoma 1 gene
231
What are the presenting features of retinoblastoma?
Leukocoria - abnormal appearance of the eye
Deterioration of vision
Red, irritated eye
Squint
Strabismus
Buphthalmos, pain, glaucoma
232
How is retinoblastoma diagnosed?
Investigated under anaesthesia with a maximally dilated pupil
Imaging - bi-dimensional ocular ultrasound and MRI
233
What is staphylococcal scalded skin syndrome?
Illness characterised by red blistering skin resembling scalds
234
What causes staphylococcal scalded skin syndrome (SSSS)?
Two exotoxins - epidermolytic toxins A and B
235
What are the initial features of SSSS?
Fever
Generalised erythema
Skin tenderness
Extremely tender flaccid bullae develop within 48 hours - commonly affect flexures
236
What are the features of the SSSS rash?
Bullae develop, commonly affecting flexures
Bullae enlarge and rupture easily to reveal a moist erythematous base - gives rise to scalded appearance
237
How are patients treated for SSSS?
Hospital admission
IV flucloxacillin
Manage fluid balance
(Most patients rapidly recover within a few days)
238
What is Gillick competence?
Children <16 can consent to medical treatment (but not refuse it) if they have sufficient maturity and understanding of what is being proposed without parental consent
239
What is laryngomalacia?
A self-limiting condition seen in infants, commonly causing stridor, but with no associated respiratory distress
240
What would be the most sensitive investigation for cystic fibrosis?
Sweat test - 98% sensitive
241
What is cystic fibrosis (CF)?
An autosomal recessive disease affecting CFTR gene on chromosome 7
- Leads to thickened secretions, predisposing to recurrent respiratory infections
242
What are the clinical features of CF?
1. Respiratory - recurrent lower respiratory tract infections and bronchiectasis, nasal polyps
2. GI - pancreatic insufficiency (exocrine and endocrine dysfunction), CF-related diabetes (CFRD), pancreatitis, gallstones
- Intestinal obstruction in newborn (meconium ileus)
- Diarrhoea (due to malabsorption)
3. Infertility - congenital absence of vas deferens, irregular menstruation
243
What is WAGR Syndrome?
Deletion in WIlm's Tumour gene (WT1) on chromosome 11 - gene functioning as a factor of transcription in development of both gonadal and renal tissues
Quartet of:
- Wilm's Tumour
- Aniridia
- Genitourinary abnormalities
- Intellectual disability
244
What is the cut-off for acceptable weight loss in the first 7 days of life?
10%
245
What ages does a slipped femoral epiphysis present?
Between 10-16
246
What would first-line management option in a child wetting the bed frequently?
Over the age of 5, non-pharmacological treatments:
- Fluid intake, diet, toilet behavioural training, reward systems
Then, nocturnal enuresis alarms would be used - form new behaviours
247
Which vitamin deficiency is associated with an increased risk of severe measles infection?
Vitamin A
248
When should a child see a paediatrician if they are not walking by?
18 months
249
What are the main complications of Kawasaki disease?
Coronary artery aneurysms
250
What is patent ductus arteriosus (PDA)?
Acyanotic congenital heart disease
Unclosed connection between pulmonary trunk and descending aorta
251
What are the features of a PDA?
1. Left subclavian thrill
2. Continuous machinery murmur
3. Large volume, bounding, collapsing pulse
4. Wide pulse pressure
5. Heaving apex beat
252
How is PDA managed?
Indomethacin or ibuprofen - inhibits prostaglandin synthesis
(If associated with another congenital heart defect treatable with surgery, then prostaglandin E1 useful to keep duct open until after surgical repair)
253
What symptoms are seen in Kawasaki disease?
1. Dry cracked lips
2. Bilateral conjunctivitis
3. Peeling of skin on fingers and toes
4. Cervical lymphadenopathy
5. Red rash over trunk
254
When would a child be able to sit without support?
6-8 months
255
When is puberty considered delayed in females?
When they have not begun thelarche by 13 or menarche by 15
256
What is the most common cause of neonatal sepsis?
Group B streptococcus
Escherichia coli
257
What will neonates usually present with in GBS sepsis?
1. Respiratory distress - drunting, nasal flaring, use of accessory muscles, tachypnoea
2. Tachycardia
3. Apnoea
4. Jaundice
5. Seizures
258
What is therapeutic cooling?
Deliberate lowering of patient's body temperature to cool the brain and prevent brain damage
- Used in neonates with moderate to severe hypoxic ischaemic encephalopathy
259
What can Abdominal X-Rays show in necrotising enterocolitis?
Dilated bowel loops
Bowel wall oedema
Intramural gas
Portal venous gas
Pneumoperitoneum
Gas cysts
260
What investigation is diagnostic for Hirschsprung's disease?
Rectal biopsy
261
What is Ebstein's anomaly?
Congenital heart defect characterised by low insertion of the tricuspid valve
- Results in large atrium and small ventricle
262
What is Ebstein's anomaly associated with?
Patent foramen ovale or ASD
Wolff-Parkinson-White
263
What are the clinical features of Ebstein's anomaly?
Cyanosis
Prominent 'a' wave in the distended jugular venous pulse
Hepatomegaly
Triscuspid regurgitation - pansystolic murmur
Right bundle branch block
264
What disease can raised Immunoreactive trypsinogen implicate on a heel prick test?
Cystic fibrosis
265
What would be present upon sweat test in CF?
Abnormally high sweat chloride (Normal value < 40 mEq/l)
CF indicated by > 60 mEq/l
