Paeds (passmed) Flashcards

1
Q

What is achondroplasia? What are it’s features?

A

Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.

This results in abnormal cartilage giving rise to:
- Short limbs (rhizomelia) with shortened fingers (brachydactyly)

Large head with frontal bossing and narrow foramen magnum

Midface hypoplasia with a flattened nasal bridge

‘trident’ hands

lumbar lordosis

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2
Q

What causes acute epiglottitis?

A

Haemophilus influenzae type B (Hib)

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3
Q

Features of epiglottitis?

A

Rapid onset

High temperature, generally unwell

Stridor

Drooling of saliva

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4
Q

What is the most common malignancy in children?

A

ALL

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5
Q

What are the features of ALL?

A

Bone marrow failure:
- Anaemia: lethargy and pallor
- Neutropaenia: frequent or severe infections
- Thrombocytopenia: easy bruising, petechiae

And other features
- Bone pain (secondary to bone marrow infiltration)
- Splenomegaly
- Hepatomegaly
- Testicular swelling

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6
Q

What is alpha thalassaemia, how might it present?

A

There are 4 alpha chains. In thalassaemia you have lost atl 1.

If 1 or 2 alpha chains are absent then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal.

Loss of 3 alpha chains results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease

If all 4 alpha chains absent (i.e. homozygote) then death in utero (hydrops fetalis, Bart’s hydrops)

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7
Q

What are the main causes of ambiguous genitalia?

A

Congenital adrenal hyperplasia is most common.

Other causes include:
- True hermaphroditism
- Maternal ingestion of androgens

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8
Q

What is the APGAR score made up of?

A

5 sections. You can get 0-2 for each section, 8-10 is good.

Pulse
- >100 (2)
- <100 (1)
- Absent (0)

Respiratory effort
- Strong, crying (2)
- Weak, irregular (1)
- Nil (0)

Colour
- Pink (2)
- Body pink, extremities ble (1)
- Blue all over (0)

Muscle tone
- Active movement (2)
- Limb flexion (1)
- Flaccid (0)

Reflex irritability
- Cries on stimulation, sneezes/coughs (2)
- Grimace (1)
- Nil (0)

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9
Q

Appendicitis presentation?

A

Central abdominal pain which later radiates to the right iliac fossa

Low-grade pyrexia

Minimal vomiting

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10
Q

Criteria of a severe asthma attack (children)?

A

SpO2 < 92%

PEF 33-50% best or predicted

Too breathless to talk or feed

Heart rate:
>125 (>5 years)
>140 (1-5 years)

Respiratory rate
>30 breaths/min (>5 years)
>40 (1-5 years)

Use of accessory neck muscle

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11
Q

Criteria of a life threatening asthma attack (children)?

A

SpO2 <92%

PEF <33% best or predicted

Silent chest

Poor respiratory effort

Agitation

Altered consciousness

Cyanosis

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12
Q

Treatment of a mild-moderate acute asthma attack in children?

A

Bronchodilator therapy
- give a beta-2 agonist via a spacer (for a child < 3 years use a close-fitting mask)
- give 1 puff every 30-60 seconds up to a maximum of 10 puffs
- if symptoms are not controlled repeat beta-2 agonist and refer to hospital

Steroid therapy
- should be given to all children with an asthma exacerbation
- treatment should be given for 3-5 days

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13
Q

Asthma management in children <5?

A

< 5 years (different to adults)

  1. Newly-diagnosed asthma
    - Short-acting beta agonist (SABA)
  2. Not controlled on previous step OR Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking:
  • SABA + an 8-week trial of paediatric MODERATE-dose inhaled corticosteroid (ICS)

After 8-weeks stop the ICS and monitor the child’s symptoms:
- if symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely
- if symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
- if symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS

  1. SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
  2. Stop the LTRA and refer to an paediatric asthma specialist.
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14
Q

Asthma management in children >5?

A

Basically the same as adults but drop the LTRA at stage 4

  1. Newly-diagnosed asthma
    - Short-acting beta agonist (SABA)
  2. Not controlled on previous step OR
    Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking:
    - SABA + paediatric low-dose inhaled corticosteroid (ICS)
  3. SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
  4. SABA + paediatric low-dose ICS + long-acting beta agonist (LABA)
    - In contrast to the adult guidance, NICE recommend stopping the LTRA at this point if it hasn’t helped
  5. SABA + switch ICS/LABA for a maintenance and reliever therapy (MART), that includes a paediatric low-dose ICS
  6. SABA + paediatric moderate-dose ICS MART OR consider changing back to a fixed-dose of a moderate-dose ICS and a separate LABA.
  7. SABA + one of the following options:
    increase ICS to paediatric high-dose, either as part of a fixed-dose regime or as a MART.

A trial of an additional drug (for example theophylline)
seeking advice from a healthcare professional with expertise in asthma.

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15
Q

Management of ADHD?

A

10 week watch and wait indicated first.

Parenting programmes (NFPP, NVR)

Drug therapy as last resort
- Methylphenidate first, as 6 week trial
- Lisdexamfetamine trial next
- Dexamfetamine if Lis not tolerated.

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16
Q

What are the three cardinal features of ADHD?

A

Inattention

Hyperactivity

Impulsivity

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17
Q

Three cardinal features of ASD?

A

Global impairment of language and comprehension

Social interaction difficulty

Fixed interests

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18
Q

General rule with regards to autosomal dominant and autosomal recessive conditions?

A

Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’.

Exceptions:

Some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant.

Some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive

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19
Q

Features of bronchiolitis?

A

< 1 year old

RSV

Often in winter

Features:
- Coryzal symptoms (including mild fever) precede:

  • dry cough
  • Increasing breathlessness
  • Wheezing, fine inspiratory crackles (not always present)
  • Feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
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20
Q

Management of RSV?

A

Supportive.

Humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%.

Nasogastric feeding may be need if children cannot take enough fluid/feed by mouth.

Suction is sometimes used for excessive upper airway secretions.

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21
Q

What are the features of concerning non-accidental bruises?

A

Excessive multiple bruises of different ages

Bruise patterns which may indicate slapping, being gripped tightly (fingertip marks) or the use of inflicting instruments (e.g. belt).

Sites which may raise concern include the face, ears, neck, buttocks, trunk or proximal parts of limbs

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22
Q

What is caput seccedaneum and cephalohaematoma, how do you tell them apart?

A

Caput is due to trauma, as head pushes through cervix or ventouse delivery.
- Present at birth
- Resolves in days
- Crosses suture lines

Cephalohaematoma is due to bleeding between periosteum and skull.
- Develops in the hours after birth
- Doesn’t cross suture lines
- May take several months to resolve
- May cause jaundice

Both are beingn and treated conservatively

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23
Q

Roughly how much milk per kg should babies receive?

A

Roughly 150ml/kg

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24
Q

How many mls in an ounce?

A

30mls

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25
How common are febrile convulsions? How common are recurrent convulsions?
3% of kids 30% have recurrence
26
What kids get an EEG after a convulsion?
Focal symptoms
27
Three most common causes of breathlessness?
Asthma Bronchiolitis Croup
28
Manifestations of cerebral palsy?
Abnormal tone early infancy Delayed motor milestones Abnormal gait Feeding difficulties Non motor: - learning difficulties (60%) - epilepsy (30%) - squints (30%) - hearing impairment (20%)
29
Causes of cerebral palsy?
Antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV) Intrapartum (10%): birth asphyxia/trauma Postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
30
Management of cerebral palsy?
MDT approach and supportive stuff Spasticity - Diazepam - Intrathecal baclofen - Surgery - Anticonvulsants - Analgesia
31
Virus in chickenpox?
Varicella zoster
32
How long is the incubation period and infectivity with chicken pox?
Infective: - 4 days before the rash, 5 days after the rash appeared. Incubation period - 10-21 days
33
Clinical features of chickenpox?
Fever initially itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular systemic upset is usually mild
34
Types of childhood abuse?
Physical, emotional and sexual abuse, neglect and fabricated or induced illness.
35
What is scarlet fever, how does it present?
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years Features - Fever: typically lasts 24 to 48 hours - malaise, headache, nausea/vomiting - sore throat, lymphadenopathy - 'strawberry' tongue 'white coating' - rash - fine punctate erythema ('pinhead/sandpaper') which generally appears first on the torso and spares the palms and soles.
36
Definitive investigation in Hirschsprung's disease?
Ano-rectal biopsy
37
What is laryngomalacia?
Congenital abnormality of the larynx. Infants typical present at 4 weeks of age with stridor
38
What are infantile spasms? How do they present?
Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants. They are often associated with a serious underlying condition and carry a poor prognosis. Presentation Characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by extension of the arms. This lasts only 1-2 seconds but may be repeated up to 50 times Progressive mental handicap
39
What causes hand foot and mouth disease?
Coxsackie virus
40
Clinical features of hand foot and mouth disease?
Mild systemic upset: sore throat, fever Oral ulcers Followed later by vesicles on the palms and soles of the feet
41
Management of hand foot and mouth?
General advice about hydration and analgesia Reassurance no link to disease in cattle Children do not need to be excluded from school*
42
What is Ebstein's abnormality?
Ebstein's anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as 'atrialisation' of the right ventricle.
43
Noonan syndrome features?
Webbed neck Pectus excavatum Short stature Pulmonary stenosis
44
Features of patau syndrome?
Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions
45
Features of edwards syndrome?
Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers
46
Features of fragile X?
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism Associated with mitral valve prolapse
47
features of pierre robin?
Micrognathia Posterior displacement of the tongue (may result in upper airway obstruction) Cleft palate
48
Features of Prader-Willi syndrome?
Hypotonia Hypogonadism Obesity
49
Features of william's syndrome?
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
50
What is the classical description of a venous hum murmur? Is it pathological?
Continuous blowing noise below both clavicles (benign)
51
What is a still's murmur? Is it pathological?
Left sternal edge, low pitched sound, benign
52
What factors indicate septic arthritis over transient synovitis?
Temperature >38.5C, Refusal to bear weight on affected limb Raised inflammatory markers (erythrocyte sedimentation rate >40 mm/hour and CRP > 20.0 mg/litre) A peripheral white cell count of > 12.0 x 109 (normal range 3.5 – 10.5 x 109 cells per cubic litre)
53
Nits treatment?
Treatment is only indicated if living lice are found. a choice of treatments should be offered: Malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone No school exclusion
54
What are the four primitive reflexes, when do they typically disappear?
Moro - Arms abduct then adduct when head extended - 3-4 months Grasp - 4/5 months Rooting - breastfeeding - 4 months Stepping - what it says on the tin - Birth to 2 months
55
Croup caused by...?
Parainfluenza virus
56
Up until what age is phimosis considered normal?
2 years
57
What is perthes disease, how does it present?
Perthes' disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction. More common in boys Features - Hip pain: develops progressively over a few weeks limp - Stiffness and reduced range of hip movement - x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
58
Management of perthes disease?
< 6 then conservative - most will improve . 6 then surgical
59
Features of juvenile idiopathic arthritis?
Features of systemic onset JIA include: - Pyrexia - Salmon-pink rash - Lymphadenopathy - Arthritis - Uveitis - Anorexia and weight loss
60
Stepwise management of enuresis?
Advice on fluid intake and toileting before bed Reward systems Enuresis alarms first if <7 y/o Straight to desmopressin if >7 y/o
61
What is vesicoureteric reflux? What is the diagnostic investigation?
Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around 30% of children who present with a UTI. Micturating cystogram is diagnostic
62
Management of whooping cough?
Azithromycin (within first 21 days) and report to public health england
63
Features of whooping cough?
Coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis inspiratory whoop: not always present (caused by forced inspiration against a closed glottis) Persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures Symptoms may last 10-14 weeks* and tend to be more severe in infants Marked lymphocytosis
64
Pyloric stenosis presentation? management?
Projectile non bile stained vomiting at 4-6 weeks of life More common in males Manage with ramstedt pyloromyotomy
65
How does intussusception present? Management?
Proximal to or at the level of, ileocaecal valve 6-9 months age Colicky pain, diarrhoea and vomiting, sausage shaped mass, red jelly stool. Management - reduction with air insufflation
66
Management of Hirschsprung's disease?
Treatment is with rectal washouts initially, thereafter an anorectal pull through procedure
67
Neonatal resuscitation steps?
Following birth, the first step is to dry the baby maintain temperature and start the clock. Following this you assess tone breathing and heart rate. If gasping or not breathing, you open the airway to give 5 inflation breaths. Airway control Chest compressions
68
What is transient tachypnoea of the newborn?
Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs, more common in c-section. No immediate management needed.
69
Kawasaki disease features?
Dry cracked lips Bilateral conjunctivitis Peeling of skin on fingers and toes Cervical lymphadenopathy Red rash over trunk
70
What do you do for premature kids with regards to the immunisation schedule?
Give as per normal timetable
71
Threadworm presentation, and management?
Perianal itching, particularly at night, Single dose of mebendazole for all family, and hygiene measures
72
Management of cleft lip and palate?
Cleft lip is repaired earlier than cleft palate, with practices varying from repair in the first week of life to three months. Cleft palates are typically repaired between 6-12 months of age
73
Features of childhood coeliac disease?
Failure to thrive Diarrhoea Abdominal distension Older children may present with anaemia Many cases are not diagnosed to adulthood
74
Types of congenital heart disease ?
Acyanotic - Ventricular septal defects (VSD) - most common, accounts for 30% Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Coarctation of the aorta Aortic valve stenosis Cyanotic - Tetralogy of Fallot - Transposition of the great arteries (TGA) - Tricuspid atresia
75
Features of rubella congenital infection?
Sensorineural deafness Congenital cataracts Congenital heart disease (e.g. patent ductus arteriosus) Glaucoma
76
Features of CMV congenital infection?
Growth retardation Purpuric skin lesions
77
Features of toxoplasmosis congenital infections
Cerebral calcification Chorioretinitis Hydrocephalus
78
Most common congenital infection in the UK?
CMV
79
Constipation management in children?
First-line: Movicol Paediatric Plain add a stimulant laxative if no response Substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard. Continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce dose gradually.
80
How does cows milk protein allergy present?
Can be immediate (allergy) and delayed reaction (intolerance) Features regurgitation and vomiting diarrhoea urticaria, atopic eczema 'colic' symptoms: irritability, crying wheeze, chronic cough rarely angioedema and anaphylaxis may occur
81
Investigations to confirm cows milk protein allergy?
Skin prick/patch testing Total IgE and specific IgE (RAST) for cow's milk protein
82
Management of cows milk protein allergy?
Formula fed Extensive hydrolysed formula (eHF) milk Amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF If breast fed eliminate cows milk from diet, then use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
83
Croup presentation? Management?
Stridor Barking cough (worse at night) Fever Coryzal symptoms Give dexamethasone to all If emergency - Nebulised adrenaline and hi flo o2
84
Investigative test for CF?
Sweat test (though may have false positive)
85
CF management?
Regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful High calorie diet, including high fat intake* Vitamin supplementation Pancreatic enzyme supplements taken with meals heart and lung transplant
86
Main point in time to refer kids if abnormal development?
Doesn't smile at 10 weeks Cannot sit unsupported at 12 months Cannot walk at 18 months
87
Most common cause of gastroenteritis in kids?
Rotavirus
88
Management of dehydration in kids?
Give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts. Continue breastfeeding. Consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)
89
What are the four main disorders of sex hormones in kids, and their LH/testosterone values?
Primary hypogonadism (Klinefelter's syndrome) XXY - LH high - testosterone Low Hypogonadotrophic hypogonadism (Kallman's syndrome) - LH and testosterone low - Associated with anosmia - X linked recessive Androgen insensitivity syndrome - X linked recessive - Actually XY but with female features - Primary amenorrhoea Testosterone-secreting tumour - High testosterone - Low LH
90
Down syndrome clinical features?
Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face. Flat occiput Single palmar crease, pronounced 'sandal gap' between big and first toe Hypotonia Congenital heart defects (40-50%, see below) Duodenal atresia Hirschsprung's disease
91
Features of a febrile convulsion?
Usually occur early in a viral infection as the temperature rises rapidly Seizures are usually brief, lasting less than 5 minutes Are most commonly tonic-clonic
92
Management post febrile convulsion?
Children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics
93
What is growth driven by in the three stages of childhood growth?
Infancy (0-2) - Nutrition - Insulin Childhood 3-11 - GH - Thyroxine Puberty - 12-18 - GH - Sex steroid
94
Criteria for immediate CT scan of head in paediatrics?
* Loss of consciousness lasting more than 5 minutes (witnessed) * Amnesia (antegrade or retrograde) lasting more than 5 minutes * Abnormal drowsiness * Three or more discrete episodes of vomiting * Clinical suspicion of non-accidental injury * Post-traumatic seizure but no history of epilepsy * GCS less than 14, or for a baby under 1 year GCS (paediatric) less than 15, on assessment in the emergency department * Suspicion of open or depressed skull injury or tense fontanelle * Any sign of basal skull fracture (haemotympanum, panda' eyes, cerebrospinal fluid leakage from the ear or nose, Battle's sign) * Focal neurological deficit * If under 1 year, presence of bruise, swelling or laceration of more than 5 cm on the head * Dangerous mechanism of injury (high-speed road traffic accident either aspedestrian, cyclist or vehicle occupant, fall from a height of greater than 3 m, high-speed injury from a projectile or an object)
95
Two most common causes of headache in kids?
Migraine without aura (most common) Tension
96
Most common cause of hypothyroidism in kids?
Autoimmune thyroiditis
97
Investigations for prolonged jaundice?
Bloods Conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention direct antiglobulin test (Coombs' test) TFTs FBC and blood film urine for MC&S and reducing sugars U&Es and LFTs
98
Causes of jaundice in the first 24 hrs of life?
rhesus haemolytic disease ABO haemolytic disease hereditary spherocytosis glucose-6-phosphodehydrogenase
99
Causes of prolonged jaundice (.2 weeks)?
biliary atresia hypothyroidism galactosaemia urinary tract infection breast milk jaundice congenital infections e.g. CMV, toxoplasmosis
100
Common knee problems in childhood?
Chondromalacia patellae - Softening of the cartilage of the patella - Common in teenage girls - Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting - Usually responds to physiotherapy Osgood-Schlatter disease - Seen in sporty teenagers - Pain, tenderness and swelling over the tibial tubercle Osteochondritis dissecans - Pain after exercise - Intermittent swelling and locking Patellar subluxation - Medial knee pain due to lateral subluxation of the patella - Knee may give way Patellar tendonitis - More common in athletic teenage boys - Chronic anterior knee pain that worsens after running - Tender below the patella on examination
101
Measles presentation?
Prodrome: irritable, conjunctivitis, fever Koplik spots (before rash): white spots ('grain of salt') on buccal mucosa Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
102
Management of meningitis in children?
1. Antibiotics < 3 months: IV amoxicillin + IV cefotaxime > 3 months: IV cefotaxime 2. Steroids - If > 1 month and Haemophilus influenzae then give dexamethasone 3. Fluids - Treat any shock, e.g. with colloid 4. Cerebral monitoring - Mechanical ventilation if respiratory impairment 5. Public health notification and antibiotic prophylaxis of contacts - Ciprofloxacin is now preferred over rifampicin
103
What is screened for in the heel-prick?
Congenital hypothyroidism Cystic fibrosis sickle cell disease phenylketonuria medium chain acyl-CoA dehydrogenase deficiency (MCADD) maple syrup urine disease (MSUD) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1) homocystinuria (pyridoxine unresponsive) (HCU)
104
What is the only normal lower limb variant that might need surgical attention?
Out toeing
105
Main difference in paediatric resus?
5 rescue breaths Chest compressions in ratio of 15:2
106
Main three paediatric orthopaedic differentials and their features?
Developmental dysplasia of the hip - Usually diagnosed at screening - If not then would go on to develop limp Perthes disease - Hip pain usually referred to the knee - Usually between 5-12 years old SUFE (slipped upper femoral epiphysis) - Obese adolescents - Pain referred to the knee - Pian for 2 months then there is slip - Limited internal rotation
107
What is a Patent ductus arteriosus? Features?
Patent duct between the aorta and pulmonary artery Acyanotic left subclavicular thrill continuous 'machinery' murmur large volume, bounding, collapsing pulse wide pulse pressure heaving apex beat
108
Management of PDA?
Indomethacin will close it, If associated with other heart defects, may use prostaglandin to keep it open
109
PKU - Inheritance pattern - Cause - Features - Management
Autosomal recessive (metabolic) Mostly phenylalanine hydroxylase deficiency Features - Usually presents by 6 months e.g. with developmental delay - Child classically has fair hair and blue eyes - Learning difficulties - Seizures, typically infantile spasms - Eczema - 'musty' odour to urine and sweat* Managed with diet restrictions - although poor evidence for this.
110
Management of paediatric pneumonia?
Amoxicillin is first-line for all children with pneumonia Macrolides may be added if there is no response to first line therapy Macrolides should be used if mycoplasma or chlamydia is suspected In pneumonia associated with influenza, co-amoxiclav is recommended
111
What is precocious puberty defined as, what is it split up into?
Secondary sexual characteristics before 8 in females and before 9 in males. Either gonadotrophin dependent - FSH and LH raised due to HPA axis activation Or gonadotropin independent - Due to excess sex hormones In females it is generally idiopathic In males it is rare and is generally due to an organic cause - Adrenal hyperplasia - Testicular tumour - Intracranial tumour
112
What is roseola infantum? Presentation?
Sixth disease High fever: lasting a few days, followed by a maculopapular rash Nagayama spots: papular enanthem on the uvula and soft palate Febrile convulsions occur in around 10-15% Diarrhoea and cough are also commonly seen
113
Management of scarlet fever?
Penicillin V for 10 days Allergy then azithromycin
114
management of seborrhoeic dermatitis in kids?
Normally resolves spontaneously by 8 months Can use baby shampoos or topical 1% hydrocortisone cream (if severe)
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Triad of shaken baby syndrome?
Retinal haemorrhages Subdural haematoma Encephalopathy.
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Major risk factors for sudden infant death syndrome?
Putting the baby to sleep prone: the relative risk or odds ratio varies from 3.5 - 9.3. If not accustomed to prone sleeping (i.e. the baby usually sleeps on their back) the odds ratio increases to 8.7-45.4 Parental smoking: studies suggest this increases the risk up to 5 fold Prematurity: 4-fold increased risk Bed sharing: odds ratio 5.1 Hyperthermia (e.g. over-wrapping) or head covering (e.g. blanket accidentally moves)
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Management of respiratory distress syndrome in kids?
Prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation Oxygen Assisted ventilation Exogenous surfactant given via endotracheal tube
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When might you consider referring for undescended testis?
Around three months, surgery normally done at 1 years old.
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Main pathogens responsible for UTI in kids?
E. coli (responsible for around 80% of cases) Proteus Pseudomonas
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Main causes of UTI in kids?
Incomplete bladder emptying Vesicoureteric reflux Poor hygiene back to front in girls
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Wilms tumour presentation?
Abdominal mass (most common presenting feature) Painless haematuria Flank pain Other features: anorexia, fever Unilateral in 95% of cases Metastases are found in 20% of patients (most commonly lung)
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Normal management of DDH in kids?
Most unstable hips will spontaneously stabilise by 3-6 weeks of age Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months Older children may require surgery
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Management of VIW?
Treatment is symptomatic only First-line is treatment with short acting beta 2 agonists (e.g. salbutamol) or anticholinergic via a spacer Next step is intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both
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When is the MMR vaccine given?
12-13 months with booster at 4 years
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When do you do the heel prick test?
5-9 days of life
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features of Tetralogy of fallot?
VSD Overriding aorta Pulmonary stenosis Right Ventricular hypertrophy
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Creases/flexures are typically spared in what type of baby rash?
Irritant dermatitis
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What is the pattern of distress in infantile spasms and infantile colic
In infantile spasms the child will become distressed between spasms, whereas in colic the child will become distressed during the 'spasms'
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Where is eczema often seen according to age?
In infants the face and trunk are often affected. In younger children eczema often occurs on the extensor surfaces In older children a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
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What is in the 6-in one vaccine?
Diptheria, tetanus, pertussis, polio, Hib b and Hep B
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At what age do the majority of children achieve day and night time urinary continence?
3-4 years
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Advice for parents after febrile convulsions?
They should wait for 5 minutes before calling an ambulance
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Most common cause of inherited neurodevelopmental delay?
Fragile X
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Difference in Gastroschisis and omphalocele?
Omphalocele is in umbilicus Gastroschisis is lateral to
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Features of an innocent murmur?
5 S rule Soft, Systolic, Short, Symptomless, Standing/Sitting
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What are the murmurs heard in ASD, VSD and PDA?
PDA - Continuous machinery murmur heard over the left subclavicular region VSD - Pansystolic ASD - Ejection systolic
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Investigation for pyloric stenosis?
USS
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Big risk with VSD?
Endocarditis