Paediatrics Flashcards
Chromosomes in Patau’s vs Edwards
Patau’s - 13
Edward’s - 18
Features of Patau’s syndrome
- Microcephalic
- Small eyes
- Cleft lip/palate
- Polydactylyl
- Scalp lesions
Features of Edward’s syndrome
- Micrognathia
- Low-set ears
- Rocker bottom feet
- Overlapping of fingers
Features of Fragile X
- Learning difficulties
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
Features of Noonan syndrome
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
Features of Pierre-Robin syndrome
- Micrognathia
- Posterior displacement of tongue
- Cleft palate
Features of Prader-Willi syndrome
- Hypotonia
- Hypogonadism
- Obesity
Features of William’s syndrome
- Short stature
- Learning difficulties
- Friendly, extroverted personality
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
Features of Cri du Chat syndrome
- Characteristic cry due to larynx and neurological problems
- Feeding difficulties and poor weight gain
- Learning difficulties
- Microcephaly and micrognathism
- Hypertelorism
Hearing test used in newborn screening programme
Otoacoustic emission test
Hearing test used in newborns and infants
Auditory brainstem response test
Hearing test used at 6-9 months
Distraction test
Hearing test used at 18 months - 2.5 years
Recognition of simple objections, e.g. ‘where is the teddy’
Hearing test used >2.5 years
- Performance testing
- Speech discrimination testsH
Hearing test used >3 years
Pure tone audiometry
Features of chondromalacia patallae
- Common in teenage girls
- Anterior knee pain on walking up and down stairs and rising from prolonged sitting
Features of Osgood-Schlatter disease
- Seen in sporty teenagers
- Pain, tenderness, and swelling over tibial tubercle
Features of osteochondritis dissecans
- Pain after exercise
- Intermittent swelling and locking
Features of patellar subluxation
- Medial knee pain due to lateral subluxation of patella
- Knee may give way
Features of patellar tendonitis
- More common in athletic teenage boys
- Chronic anterior knee pain that worsens after running
- Tender below patella on examination
Features of DDH
- Barlow’s and Ortolani’s positive
- Unequal skin folds/leg lengths
Features of transient synovitis
- 2-10 years old
- Acute hip pain associated with viral infection
Features of Perthe’s disease
- 4-8 years old
- Hip pain developing over few weeks
- Limp
- Stiffness and reduced range of movement
10% cases bilateral
XR changes in Perthe’s disease
Early changes - widening of joint space
Later changes - decreased femoral head size/flattening
Features of SUFE
- 10-15 years
- More common in obese children and boys
- Knee or distal thigh pain
- Loss of internal rotation of leg in flexion
- May present following trauma or with chronic, persistent symptoms
20% cases bilateral
Features of JIA
- Joint pain and swelling, usually medium sized joints e.g. knees, ankles, elbows
- Limp
- ANA may be positive
Features of septic arthritis
- Acute hip pain
- Systemic upset, e.g. pyrexia
- Inability/severe limitation of affected joint
Poor prognostic factors ALL
- Age <2 or >10
- WBC >20 at diagnosis
- T or B cell surface markers
- Non-Caucasian
- Male sex
Aortic stenosis associations
- William’s syndrome
- Coarctation of aorta
- Turner’s syndrome
Management aortic stenosis in children
Aim to avoid or delay valve replacement
If gradient >60mmHg, ballon valvotomy may be indicated
Features of severe asthma attack in children
- SpO2 <92%
- PEF 33-50% best or predicted
- Too breathless to talk or feed
- HR >125 in >5 years, >140 in 1-5 years
- RR >30 in >5 years, >40 in 1-5 years
- Use of accessory neck muscles
Features of life-threatening asthma attack in children
- SpO2 <92%
- PEF <33% best or predicted
- Silent chest
- Poor resp effort
- Agitation
- Altered consciousness
- Cyanosis
Initial management of ADHD in primary care
10 week watch and wait period - see if symptoms change or resolve - if persist, refer to secondary care
Conservative management ADHD
Parents attending education and training programmes
Indications drugs ADHD
- Failure to respond to conservative methods
- Severe symptoms
First line treatment ADHD
Methylphenidate
SEs methylphenidate
- Abdominal pain
- Nausea
- Dyspepsia
- Cardiotoxic
Monitoring methylphenidate
- Weight and height monitoring every 6 months
- ECG at start of treatment
Second line drug ADHD
Lisdexamfetamine
Metabolic conditions that are X-linked recessive
- Hunters
- G6PD
Metabolic conditions that are autosomal dominant
- Hyperlipidaemia type II
- Hypokalaemic periodic paralysis
Structural conditions that are autosomal recessive
- Ataxia telangiectasia
- Friedreich’s ataxiaA
Age benign rolandic epilepsy
4-12 years
Features benign rolandic epilepsy
- Seizures occur at night
- Typically partial, secondary generalisation may occur
- Child otherwise normal
EEG benign rolandic epilepsy
Centrotemporal spikes
Prognosis benign rolandic epilepsy
Excellent - seizures stop by adolescence
What is caput succedaneum
Oedema of the scalp at presenting part of head, typically vertex
Features caput succedaneum
- Soft puffy swelling due to localised oedema
- Crosses suture lines
When does cephalohaematoma develop
Typically several hours after delivery
Most common site cephalohaematoma
Parietal region
How long does cephalohaematoma take to resolve
3 months
When is chickenpox contagious
4 days before rash, 5 days after rash first appeared (once all lesions dry and crusted)
Incubation period chickenpox
10-21 days
Clinical features chickenpox
Fever initially
Itchy rash starting on head/trunk → spreading. Initially macular → papular → vesicular
Who needs VZIG chickenpox
- Immunocompromised
- Newborns with peripartum exposure
Complications chickenpox
- Secondary bacterial infection
- Pneumonia
- Encephalitis
- Disseminated haemorrhagic chickenpox
- Arthritis
- Nephritis
- Pancreatitis
What increases risk of secondary bacterial infection of chickenpox
Ibuprofen
Features measles infection
- Prodrome of irritability, conjunctivitis, fever
- Koplik spots (white spots on buccal mucosa)
- Rash
Features of rash in measles
Starts behind ears → whole body
Discrete maculopapular rash becoming blotchy and confluent
Features measles
Fever, malaise, muscle pain
Parotiditis - earache, pain on eating - unilateral → bilateral in 70%
Rash
Features rubella
Pink maculopapular rash, initially on face → whole body, usually fades by 3-5 day
Lymphadenopathy - suboccipital and postauricular
Cause erythema infectiosum
Parvovirus B19
Features erythema infectiosum
- Lethargy, fever, headache
- Slapped cheek rash → proximal arms and extensor surfaces
Cause scarlet fever
Reaction to erythrogenimc toxins produced by group A strep
Features scarlet fever
- Fever, malaise, tonsillitis
- Strawberry tongue
- Rash - fine punctuate erythema sparing area around the mouth (circumoral pallor)
Features hand foot and mouth
- Mild systemic upset - sore throat, fever
- Vesicle sin mouth, and on palms/soles of feet
Cause hand foot and mouth
Coxsackie A16
Age of presentation coeliac in children
Usually before age of 3 (following introduction of cereals to diet)
Gene associations coeliac
HLA-DQ2 and HLA-DQ8
Features congenital diaphragmatic hernia
- Pulmonary hypoplasia
- Pulmonary hypertension
→ resp distress at birth
Most common acyanotic CHD
VSD
Most common cyanotic CHD
Tetralogy
TGA more common at birth as presents earlier (ToF 1-2 months)
Age and consent
- Under 16 if meet Fraser guidelines, but cannot refuse treatment deemed in their best interest
- 16-18 presumed competent to consent to treatment
- 18+ may consent or refuse
First line management constipation with impaction
Movicol (polyethylene glycol 3350 + electrolytes) using escalating dose regime
Second line management constipation with impaction
Add stimulant laxative if disimpaction not achieved in 2 weeks
Treatment constipation without impaction/maint
Movicol
Add stimulant laxative if no response
Add lactulose or docusate if stools hard
How long to continue laxatives childhood constipation
Continue at maint dose for several weeks after regular bowel habit established, then gradually reduce dose
Role of dietary interventions in childhood constipation
Do not use alone as first line treatment
Management constipation in infants <6 months
- If bottle fed, extra water between feeds
- If breastfed, constipation unusual - consider organic causes
Features CMPA
- Regurgitation and vomiting
- Diarrhoea
- Urticaria, atopic eczema
- Irritability, crying
- Wheeze, chronic cough
Diagnosis CMPA
Often clinical
Skin prick/patch testing
Total IgE and specific IgE for CMP
First line management CMPA