Paediatric Common Conditions 4 Flashcards

1
Q

What is Phenylketonuria (PKU)?

A

an autosomal recessive condition caused by a disorder of phenylalanine metabolism

usually due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine

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2
Q

What features does PKU present with?

A

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

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3
Q

How can PKU be diagnosed?

A

Guthrie test: the ‘heel-prick’ test done at 5-9 days of life - also looks for other biochemical disorders such as hypothyroidism
hyperphenylalaninaemia
phenylpyruvic acid in urine

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4
Q

What is phimosis? How should it be managed?

A

a non-retractile foreskin and/or ballooning during micturition

child under 2 = expectant approach should be taken in case this is physiological phimosis which will resolve in time

child over 2 + recurrent balanoposthitis or urinary tract infection = intervention

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5
Q

Give some signs of pneumonia in children

A

Tachypnoea (raised respiratory rate)
Tachycardia (raised heart rate)
Hypoxia (low oxygen)
Hypotension (shock)
Fever
Confusion

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6
Q

What might you hear on examination of the chest in a child with pneumonia?

A

Bronchial breath sounds : harsh breath sounds that are equally loud on inspiration and expiration, caused by consolidation of the lung tissue around the airway

Focal coarse crackles : caused by air passing through sputum similar to using a straw to blow into a drink

Dullness to percussion: due to lung tissue collapse and/or consolidation

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7
Q

What is the most likely causative agent of a bacterial pneumonia in children?

What are the other causes?

A

streptococcus pneumoniae

Group A strep (e.g. Streptococcus pyogenes)
Group B strep: often contracted during birth as it often colonises the vagina
Staphylococcus aureus: typical chest xray findings of pneumatocoeles (round air filled cavities) and consolidations in multiple lobes
Haemophilus influenza : particularly affects pre-vaccinated or unvaccinated children
Mycoplasma pneumonia: atypical bacteria with extra-pulmonary manifestations (e.g. erythema multiforme)

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8
Q

What are the viral causes of pneumonia in kids?

A

Respiratory syncytial virus (RSV) is the most common viral cause

Parainfluenza virus

Influenza virus

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9
Q

How should pneumonia be managed in children?

A

Amoxicillin is first-line

Macrolides (e.g. erythromycin) may be added if there is no response to first line therapy / if mycoplasma or chlamydia is suspected

pneumonia associated with influenza =co-amoxiclav

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10
Q

How can you investigate children with recurrent LRTIs?

A

FBC- WCC

Serum immunoglobulins
Test IgG to previous vaccines (i.e. pneumococcus and haemophilus) -some patients are unable to convert IgM to IgG, and therefore cannot form long term immunity

Sweat test for CF

HIV test

CXR to screen for any structural abnormality in the chest or scarring from the infections

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11
Q

What is Prader-Willi syndrome?

A

associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15

Features:
hypotonia during infancy
dysmorphic features, short stature
hypogonadism and infertility
learning difficulties
childhood obesity
behavioural problems in adolescence

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12
Q

What is episodic viral wheeze? How should it be managed?

A

only wheezes when has a viral URTI and is symptom free inbetween episodes

Mx:
first-line is treatment with SABA (e.g. salbutamol) or anticholinergic via a spacer
next step is intermittent leukotriene receptor antagonist (montelukast), intermittent ICS, or both

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13
Q

What is multiple trigger wheeze? How should it be managed?

A

as well as viral URTIs, other factors appear to trigger the wheeze such as exercise, allergens and cigarette smoke

Mx: trial of either ICS or a leukotriene receptor antagonist (montelukast), typically for 4-8 weeks
parents should stop smoking

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14
Q

What is precocious puberty?

A

‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females

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15
Q

How can precocious puberty be classified?

A
  1. Gonadotrophin dependent (‘central’, ‘true’)
    due to premature activation of the hypothalamic-pituitary-gonadal axis
    FSH & LH raised
  2. Gonadotrophin independent (‘pseudo’, ‘false’)
    due to excess sex hormones
    FSH & LH low
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16
Q

Signs of puberty in males?

A

first sign is testicular growth at around 12 years of age (range = 10-15 years)
testicular volume > 4 ml indicates onset of puberty
maximum height spurt at 14

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17
Q

Signs of puberty in females?

A

first sign is breast development (thelarche) at around 11.5 years of age (range = 9-13 years)
height spurt reaches its maximum early in puberty (at 12) before menarche
menarche at 13 (11-15)

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18
Q

Pulmonary hypoplasia is a term used for newborn infants with underdeveloped lungs. What can cause it?

A

oligohydramnios
congenital diaphragmatic hernia

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19
Q

Pyloric stenosis is caused by hypertrophy of the circular muscles of the pylorus. What features does it present with?

A

‘projectile’ vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present
a palpable mass may be present in the upper abdomen
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting

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20
Q

What is a reflex anoxic seizure?

A

a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli, occurs in children aged 6months - 3 years

Typical features
child goes very pale
falls to floor
rapid recovery

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21
Q

What is the most common ocular malignancy found in children?

A

Retinoblastoma

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22
Q

How does retinoblastoma present?

A

autosomal dominant
absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems

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23
Q

How can retinoblastoma be managed?

A

enucleation
external beam radiation therapy
chemotherapy and photocoagulation

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24
Q

Rickets is a term that describes inadequately mineralised bone in developing and growing bones, usually due to Vitamin D deficiency.

What are the predisposing factors?

A

dietary deficiency of calcium e.g. in developing countries
prolonged breastfeeding
unsupplemented cow’s milk formula
lack of sunlight

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25
Q

How may Rickets present?

A

aching bones and joints

lower limb abnormalities:
in toddlers genu varum (bow legs)
in older children - genu valgum (knock knees)

‘rickety rosary’ - swelling at the costochondral junction
kyphoscoliosis
craniotabes - soft skull bones in early life
Harrison’s sulcus

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26
Q

How can Rickets be investigated and managed?

A

Investigations:
low vitamin D levels
reduced serum calcium - symptoms may results from hypocalcaemia
raised ALP

Management:
oral vitamin D

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27
Q

What is Roseola infantum? Features?

A

sixth disease
common disease of infancy caused by the human herpes virus 6 (HHV6)

Features:
high fever: lasting a few days, followed later by a
maculopapular rash
Nagayama spots: papular enanthem on the uvula and soft palate
diarrhoea and cough commonly seen

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28
Q

What is Scarlet fever?

A

Reaction to Group A haemolytic strep (usually strep pyogenes)

typically presents with:
fever: typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
‘strawberry’ tongue
rough sandpaper rash

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29
Q

Describe the Scarlet fever rash

A

rough sandpaper like rash
‘pinhead’, appears first on the torso and spares the palms and soles
more prominent in flexures

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30
Q

How should Scarlet Fever be investigated and managed?

A

a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results

Management:
oral penicillin V for 10 days
penicillin allergy = azithromycin
children can return to school 24 hours after commencing antibiotics
notifiable disease

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31
Q

Complications of Scarlet fever?

A

otitis media: the most common complication
rheumatic fever: typically occurs 20 days after infection
acute glomerulonephritis: typically occurs 10 days after infection

32
Q

Sebhorreic dermatitis (cradle cap) is characterised by an erythematous rash with coarse yellow scales. How should it be managed?

A

reassurance that it doesn’t affect the baby and usually resolves within a few weeks
massage a topical emollient onto the scalp to loosen scales, brush gently with a soft brush and wash off with shampoo.
if severe/persistent a topical imidazole cream may be tried

33
Q

Which joints are most commonly affected by septic arthritis?

A

hip, knee and ankle

34
Q

What sxs and signs does septic arthritis present with?

A

Symptoms
joint pain
limp
fever
systemically unwell: lethargy

Signs
swollen, red joint
typically, only minimal movement of the affected joint is possible

35
Q

How should septic arthritis be investigated?

A

joint aspiration: for culture. Will show a raised WBC
raised inflammatory markers
blood cultures

36
Q

What is the diagnostic criteria for septic arthritis?

A

The Kocher criteria for the diagnosis of septic arthritis:
fever >38.5 degrees C
non-weight bearing
raised ESR
raised WCC

37
Q

What is Plagiocephaly?

A

parallelogram shaped head

38
Q

What is Craniosynostosis?

A

premature fusion of skull bones

39
Q

Causes of snoring in children?

A

obesity
nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
recurrent tonsillitis
Down’s syndrome
hypothyroidism

40
Q

What are the causes of stridor in children?

A

Croup
Acute epiglottis
Inhaled foreign body
Laryngomalacia

41
Q

What is Laryngomalacia?

A

Congenital abnormality of the larynx.

Infants typically present at 4 weeks of age with stridor

42
Q

What is the commonest cause of death in the first year of life?

A

sudden infant death syndrome (SIDS)

43
Q

Risk factors for SIDS?

A

prematurity
prone sleeping
bed sharing
hyperthermia (e.g. over-wrapping) or head covering
parental smoking

44
Q

Protective factors against SIDS?

A

breastfeeding
room sharing (but not bed sharing, which is a significant risk factor)
the use of dummies (pacifiers)

45
Q

Procedure following a cot death?

A

siblings should be screened for potential sepsis and inborn errors of metabolism

46
Q

Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome) is a condition seen in premature babies.

How does it present? What are the risk factors besides prematurity?

A

tachypnoea, intercostal recession, expiratory grunting and cyanosis
Chest x-ray characteristically shows ‘ground-glass’ appearance with an indistinct heart border

risk factors:
male sex
diabetic mothers
Caesarean section
second born of premature twins

47
Q

How should SDLD be managed?

A

prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation
oxygen
assisted ventilation
exogenous surfactant given via endotracheal tube

48
Q

What is the most common cause of cyanotic congenital heart disease? What are its 4 components ?

A

Tetralogy of Fallot

VSD
Overriding aorta
Pulmonary stenosis
RV hypertrophy

49
Q

What symptoms and signs does Tetralogy of Fallot present with?
Finding on CXR? Finding on ECG?

A

symptoms:
cyanosis
episodic hypercyanotic ‘tet’ spells due to near occlusion of the right ventricular outflow tract that occasionally result in LOC
(they typically occur when an infant is upset, is in pain or has a fever)

signs:
right-to-left shunt
ejection systolic murmur due to pulmonary stenosis

CXR : ‘boot-shaped’ heart

ECG: right ventricular hypertrophy

50
Q

How should TOF be managed?

A

surgical repair is often undertaken in two parts
cyanotic episodes may be helped by beta-blockers

51
Q

Infestation with threadworms (Enterobius vermicularis) is extremely common amongst children in the UK. How does it present? Mx?

A

perianal itching, particularly at night
girls may have vulval symptoms

Mx: a combination of anthelmintic with hygiene measures for all members of the household
single dose mebendazole is used first-line for children > 6 months old

52
Q

What is transient synovitis? Key features?

A

irritable hip

acute hip pain following a recent viral infection
commonest cause of hip pain in children

Features:
limp/refusal to weight bear
groin or hip pain
a low-grade fever is present in a minority of patients
(high fever should raise the suspicion of other causes such as septic arthritis)
self limiting

53
Q

What is the commonest cause of respiratory distress in the newborn period? How does it present on CXR? Mx?

A

Transient tachypnoea of the newborn (TTN)
caused by delayed resorption of fluid in the lungs

more common following C sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal

CXR may show hyperinflation of the lungs and fluid in the horizontal fissure

Mx: observation, supportive care, supplementary oxygen

54
Q

What is Transposition of the great arteries (TGA)? Clinical features?

A

cyanotic congenital heart defect

aorta leaves the right ventricle
pulmonary trunk leaves the left ventricle

Clinical features:
cyanosis
tachypnoea
loud single S2
prominent right ventricular impulse
‘egg-on-side’ appearance on chest x-ray

55
Q

How should TGA be managed?

A

maintenance of the ductus arteriosus with prostaglandins
surgical correction is the definite treatment

56
Q

What is the difference between tumour suppressor genes and oncogenes?

A

Tumour suppressor genes - loss of function results in an increased risk of cancer

Oncogenes - gain of function results in an increased risk of cancer

57
Q

Turner’s syndrome is a chromosomal disorder in females denoted as 45,XO or 45,X (loss of an X chromosome or one arm of an X chromosome) . How does it present?

A

Appearance:
short stature , shield chest, widely spaced nipples, webbed neck
cystic hygroma , lymphoedema in neonates
multiple pigmented naevi

Cardiac:
bicuspid aortic valve , coarctation of the aorta, increased risk of aortic dilatation and dissection

Endocrine:
primary amenorrhoea
gonadotrophin levels will be elevated
hypothyroidism is much more common in Turner’s

Renal:
horseshoe kidney: the most common renal abnormality in Turner’s syndrome

58
Q

Complications of undescended testis?

A

infertility
torsion
testicular cancer
psychological

59
Q

How should undescended tested be managed?

A

Unilateral undescended testis
- referral should be considered from around 3 months of age, ideally seeing a urological surgeon before 6 months
Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age

Bilateral undescended testes
- reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

60
Q

Causative organisms of UTI in kids?

A

E. coli (80% of cases)
Proteus
Pseudomonas

61
Q

Risk factors for UTI in kids?

A

Incomplete bladder emptying:
infrequent voiding
hurried micturition
obstruction by full rectum due to constipation
neuropathic bladder

Vesicoureteric reflux

Poor hygiene
e.g. not wiping from front to back in girls

62
Q

How do UTIs present in kids?

A

infants: poor feeding, vomiting, irritability
younger children: abdominal pain, fever, dysuria
older children: dysuria, frequency, haematuria
features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness

63
Q

When should you check a child’s urine sample?

A

if there are any symptoms or signs suggestive or a UTI
with unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)

64
Q

How should urine be collected for sampling in kids?

A

clean catch is preferable
if not possible then urine collection pads should be used
invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible

65
Q

How should UTIs be managed in kids?

A

infants less than 3 months old should be referred immediately to a paediatrician

children aged more than 3 months old with an upper UTI = considered for admission to hospital OR oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days

children aged more than 3 months old with a lower UTI = oral antibiotics for 3 days, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin

antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs

66
Q

Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis. When should it be suspected?

A

should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:

Paroxysmal cough
Inspiratory whoop
Post-tussive vomiting
Undiagnosed apnoeic attacks in young infants

67
Q

How can whooping cough be diagnosed?

A

per nasal swab culture for Bordetella pertussis - may take several days or weeks to come back
PCR and serology

68
Q

How should whooping cough be managed?

A

notifiable disease

infants under 6 months should be admitted

an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread

household contacts should be offered antibiotic prophylaxis

school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )

69
Q

Complications of whooping cough?

A

subconjunctival haemorrhage
pneumonia
bronchiectasis
seizures

70
Q

Who is offered the pertussis vaccine?

A

Women who are between 16-32 weeks pregnant

71
Q

What is William’s syndrome? How is it diagnosed?

A

inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7

Features
elfin-like facies
characteristic like affect - very friendly and social
learning difficulties
short stature
transient neonatal hypercalcaemia
supravalvular aortic stenosis

Dx = FISH studies

72
Q

How does Wilm’s tumour (nephroblastoma) present?

A

abdominal mass (most common presenting feature)
painless haematuria
flank pain
other features: anorexia, fever

73
Q

How should suspected Wilm’s tumour be investigated and managed?

A

children with an unexplained enlarged abdominal mass in children - possible Wilm’s tumour - arrange paediatric review with 48 hours

Management:
nephrectomy
chemotherapy
radiotherapy if advanced disease

74
Q

What is the inheritance pattern of: Duchenne muscular dystrophy, G6PD deficiency, Haemophilia A, and Haemophilia B?

A

X-linked recessive

only males are affected (because in females the other normal X chromosome will dominate)

75
Q

What is the inheritance pattern of Alport’s syndrome, Rett syndrome and Vitamin D resistant rickets?

A

X-linked dominant

76
Q

What are the 5 key components of meningitis management in children?

A

Antibiotics

Steroids

Fluids
treat any shock, e.g. with colloid

Cerebral monitoring
mechanical ventilation if respiratory impairment

Public health notification and antibiotic prophylaxis of contacts - ciprofloxacin