paeds Flashcards

1
Q

signs of moderate resp distress

A

Tachypnoea, Tachycardia, Nasal flaring, Use of accessory respiratory muscles, Intercostal and subcostal recession, Head retraction, Inability to feed

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2
Q

signs of severe resp distress

A

Cyanosis, Tiring because of increased work of breathing, Reduced conscious level, Oxygen saturation <92% despite oxygen therapy

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3
Q

stridor

A

= predominantly inspiratory = from extrathoracic airway obstruction in the trachea and larynx

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4
Q

causes of stridor

A

Commonly caused by croup, also epiglottitis, inhaled foreign body

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5
Q

wheeze

A

predominantly expiratory = from intrathoracic airway narrowing.

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6
Q

causes of wheeze

A

Bronchiolitis, asthma

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7
Q

causes of coryza

A

Causes: rhinoviruses, coronaviruses and RSV

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8
Q

sx coryza

A

Nasal discharge, nasal blocking, cough

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9
Q

pharyngitis

A

= pharynx and soft palate are inflamed, and local lymph nodes are enlarged and tender

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10
Q

causes pharyngitis

A

adenoviruses, enteroviruses, rhinoviruses, In older children = group A -haemolytic streptococcus is common.

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11
Q

tonsilitis

A

is a form of pharyngitis which includes intense inflammation of the tonsils, often with a purulent exudate

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12
Q

causes tonsilitis

A

= group A -haem strep and the Epstein-Barr virus.

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13
Q

features tonsilitis

A

Headache, apathy, abdo pain, white tonsillar exudate and cervical lymphadenopathy are more common with bacterial infection. It is not possible to clinically distinguish between viral and bacterial tonsillitis.

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14
Q

mx tonsilitis

A

Antibiotics e.g. penicillin V or erythromycin (if penicillin allergy) are often prescribed for severe pharyngitis and tonsillitis even though only 1/3 are caused by bacteria (10 days).

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15
Q

fever pain criteria

A

Fever in past 24 hours
Absence of cough or coryza
Symptom onset ≤3 days
Purulent tonsils
Severe tonsil inflammation

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16
Q

fever pain score interpretation

A

A score of 0-1 =No antibiotics recommended.
A score of 2=Delayed antibiotic may be appropriate.
A score of 3 =Delayed antibiotic may be appropriate.
A score of 4 or more = Consider antibiotics if symptoms are severe or a short delayed prescribing strategy may be appropriate (48 hours)

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17
Q

what is fever pain score for

A

determining if bacterial or viral pharyngitis/tonsilits

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18
Q

what is centor criteria for?

A

Estimates probability that pharyngitis is streptococcal

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19
Q

centor critieria

A

Tonsillar exudate.
Tender anterior cervical lymphadenopathy or lymphadenitis.
History of fever (over 38°C).
Absence of cough

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20
Q

interpreting centor score

A

A score of 0, 1 or 2 is thought to be associated with a 3-17% likelihood of isolating streptococcus. A score of 3 or 4 is thought to be associated with a 32-56% likelihood of isolating streptococcus.

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21
Q

cause whooping cough

A

bordatella pertussis

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22
Q

features whooping cough

A

After a week of coryza, child develops spasmodic cough followed by a characteristic inspiratory whoop. Often worse at night and may lead to vomiting. During heavy coughing, child may go blue or red in the face, and mucus flows from the nose and mouth.

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23
Q

diagnosing whooping cough

A

culture of organism on pernasal swab, marked lymphocytosis on blood film (>15x109/L)

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24
Q

mx whooping cough

A

Clarithromycin if present within 21d

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25
cause pneumonia
Newborn = group B streptococcus, gram -ve enterocci and bacilli. Infants and young children=. RSV, Strep pneumoniae or H. influenzae. Children >5 yrs- Mycoplasma pneumoniae, Strep pneumoniae, Chlamydia pneumoniae
26
features pneumpnia
Fever, cough, rapid breathing, Preceded by URTI, lethargy, poor feeding, ‘unwell’ child. Examination: Tachypnoea , Nasal flaring, Chest indrawing, May be end-inspiratory coarse crackles
27
diagnosing pneumonia
CXR, A nasopharyngeal aspirate
28
when to admit to hospital with pneumonia
xygen sats <92%, Recurrent apnoea, Grunting, Inability to maintain adequate feed/fluid.
29
mx pneumonia
oxygen for hypoxia and analgesia for pain, IV fluids if necessary. Newborns = broad spectrum antibiotics. Older infants = oral amoxicillin, with broader spectrum e.g. co-amoxiclav reserved for complicated cases, >5 years = amoxicillin or oral macrolide e.g. erythromycin.
30
bronchiectasis
permanent dilatation of the bronchi. May be generalised or restricted to a lobe of the lung.
31
causes bronchiectassi
Generalised may be due to cystic fibrosis, primary ciliary dyskinesia, immunodeficiency or chronic aspiration. Focal is due to previous severe pneumonia, congenital lung abnormality, or obstruction by a foreign body.
32
ix bronchiectasis
CT
33
cause croup
Parainfluenza, rhinovirus, RSV and influenza, typically occurs from 6 months to 6 years of age the peak incidence is the 2nd year of life, in autumn.
34
features croup
are coryza and fever, followed by: Hoarseness ,A barking cough, Harsh stridor. The symptoms often start, and are worse, at night
35
mx croup
1st line treatment = oral dexamethasone, oral prednisolone, or nebulized steroids (budesonide). These reduce the severity and duration of croup and are first line for croup causing recession at rest. They have been shows to reduce the need for hospitalisation. If severe: nebulised epinephrine (adrenaline) with oxygen by face mask provides rapid but transient improvement.
36
what is bacterial tracheitis
pseudomembranous croup)
37
features bacteria tracheitis
High fever appears very ill, rapidly progressive airways obstruction with copious thick airway secretions. caused by staph aureus.
38
mx bacterial tracheitis
IV abx and intubation and ventilation if required
39
cause acute epiglottitis
H. influenzae type b (Hib), Most common aged 1-6 years but affects all age groups.
40
features acute epiglottitis
Onset of epiglottitis is usually very acute, with: High fever in a very ill, toxic-looking child, An intensely painful throat that prevents the child from speaking or swallowing; saliva drools down the chin, Soft inspiratory stridor,The child sitting immobile, upright, with an open mouth to optimise the airway, cough minimal or absent
41
what not to do in acute epiglottitis
DO NOT lie the child down or examine the throat with a spatula or perform a lateral neck X-ray must not be undertaken as they can precipitate total airway obstruction + death.
42
mx acute epiglottitis
Senior anaesthetist, paediatrician, ENT surgeon should be involved. Intubation. Once airway is secured, blood should be taken for culture and abx started e.g. cefuroxime. Tracheal tube removed after 24hrs, abx 3-5 days. Prophylaxis rifampicin is offered to close household contacts (H.influenzae infection).
43
cause bronchiolitis
RSV is the main cause (80%), but it can also be cause by parainfluenza virus, rhinovirus, adenovirus, human metapneumovirus or influenza virus.
44
features brochiolitis
Coryzal symptoms may precede a dry cough and increasing breathlessness. Examination:Tachypnoea and tachycardia, Subcostal and intercostal recession, Hyperinflation of the chest, Sternum prominent, Fine end-respiratory crackles, High-pitched wheezes – expiratory > inspiratory
45
ix brobchiolitis
Pulse oximetry, CXR and blood gases only indicated if resp. failure is suspected.
46
when to admit with bronchiolitis
Sleep apnoea, Persistent oxygen sats <90% in air, Inadequate oral fluid intake (50-75% of usual volume), Severe respiratory distress – grunting, marked chest recession, or a resp. rate over 70 breaths/minute.
47
mx bronchiolitis
Humidified oxygen via nasal cannula or a head box, assisted ventilation – CPAP (continuous positive airway pressure
48
prevention bronchiolitis
A monoclonal antibody to RSV (palivizumab)
49
inheritance CF
Autosomal recessive, carrier rate 1 in 25. Defective protein called the CF transmembrane conductance regulator (CFTR). The gene for CFTR is located on chromosome 7. 
50
pathophysiology CF
abnormal ion transport across epithelial cells. In the airway, this leads to reduction in the airway surface liquid and consequent impaired ciliary function and retention of mucopurulent secretions. Defective CFTR also causes dysregulation of inflammation and defence against infection. The pancreatic duct becomes blocked by thick secretions, leading to pancreatic enzyme deficiency and malabsorption. 
51
features CF in children
Newborn= Diagnosed through newborn screening, Meconium ileus. Infancy= Prolonged neonatal jaundice, Growth faltering, Recurrent chest infections, Malabsorption, steatorrhea. Young child = Bronchiectasis, Rectal prolapse, Nasal polyp, Sinusitis. Older child and adolescent= Allergic bronchopulmonary aspergillosis, Diabetes mellitus , Cirrhosis and portal hypertension, Distal intestinal obstruction (meconium ileus equivalent), Pneumothorax or recurrent haemoptysis, Sterility in males On examination: Persistent, wet cough, productive of purulent sputum, Hyperinflation of the chest – air trapping, Coarse inspiratory crepitations, Expiratory wheeze, Finger clubbing 
52
diagnosis CF
THE SWEAT TEST = concentration of chloride in sweat is markedly elevated. Cl 60-125mmol/L in CF, compared to 10-40mmol/L (normal).
53
mx CF
Children should have physiotherapy at least twice a day, aiming to clear the airways of secretions. Medication: Continuous prophylactic oral abx (flucloxacillin) are recommended, with additional rescue abx for any flare ups, Daily nebulised antipseudomonal abx = slow decline of lung function caused by chronic Pseudomonas infection. Bilateral sequential lung transplantation is the only therapeutic option for end-stage CF lung disease :, Due to increasing chest infections, CF patients are segregated and advised not to socialise with other people with the disease,
54
CF in teenagers and adults
CF in teenagers and adults: Diabetes mellitus – decreasing pancreatic endocrine function, Evidence of liver disease with hepatomegaly on palpation, abnormal LFTs or an abnormal US, Distal intestinal obstruction syndrome (meconium ileus equivalent) is usually cleared by a combination of oral laxative agents, Due to increasing chest infections, CF patients are segregated and advised not to socialise with other people with the disease, Males are virtually always infertile due to absence of the vas deferens.
55
features viral induced wheeze
only wheezes when has a viral upper respiratory tract infection (URTI) and is symptom free inbetween episodes
56
mx viral induced wheeze
Tx when symptoms, no prophylaxis. 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
57
features moderate acute asthma
able to talk oxygen sat s>92 peak flow >50% RR:
58
features severe asthms
too breathless to talk oxygen sats <92 peak flow 33-50% RR: > 40 for 2-5y, >30 for 5-12 yr, > 25 for 12-18y HR: > 140 for 2-5y, > 125 for 5-12 yr, > 110 for 12-18y
59
features life threatening asthma
silent chest, cyanosis poor resp effort exhasution arrhythmia, hypotension altered consciousness agitation, confusion oxygen sats <92
60
mx moderate acute asthma
calm and reassure SABA via spacer + face mask <3 2-4 puffs increaseing by 2 puffs every 2mins until 10 puffs if needed oral pred 1-2mg/kg max 40mg monitor response for 15-30min
61
mx severe acute asthma
high flow oxygen SABA via spacer, 10 puffs or nebulised (2.5mg salbutamol <8, 5mg >8) oral pred or IV hydrocortisonw consider; inhaled ipratropium, IV B agonist (salbutamol) or aminophylline or magnesium
62
mx life threatening acute asthma
high flow oxygen SABA via spacer, 10 puffs or nebulised (2.5mg salbutamol <8, 5mg >8) oral pred or IV hydrocortisonw nebulised ipratropium consider; inhaled ipratropium, IV B agonist (salbutamol) or aminophylline or magnesium discuss with PICU
63
next steps if respondin tto tx in acutr asthma
responding: bronchodilators 1-4hr prn, discharge with 3-7d oral pred when on 4hrly at discharge: rev medication and inhaler techique, personalsied action plan, arrange follow up
64
steps if not responding to tx in acute asthma
transfer to HDU senior rev consider IV therapies not used (magnesium, aminophylline, B2agonist) CXR and blood gas consider mechanical venitaltion
65
patterns of wheezing in asthma
Viral episodic wheezing – wheeze only in response to viral infections. Multiple trigger wheeze – in response to multiple triggers and which is more likely to develop into asthma over time, Asthma
66
multiple trigger wheeze and asthma
Frequent wheeze can be triggered by many stimuli, such as: Viruses, Cold air, Dust, Animal dander, Exercise. Atopic asthma is strongly associated with other atopic diseases such as eczema, rhinoconjunctivitis and food allergy
67
causes of persistent childhood wheeze
Viral episodic wheeze, Multiple trigger wheeze, Asthma , Recurrent anaphylaxis (e.g. in food allergy), Chronic aspiration, Cystic fibrosis, Bronchopulmonary dysplasia, Bronchiolitis obliterans, Trachea-bronchomalacia
68
pathophysiology asthma
Atopy Bronchial inflammation – oedema, excessive mucus production, infiltration with cells Genetic predisposition Environmental triggers e.g. URTIs, allergens, smoking, cold air, chemical irritants, emotional upset/anxiety, exercise Bronchial hyperresponsiveness – exaggerated twitchiness to inhaled stimuli Airway narrowing – reversible airflow obstruction (e.g. peak flow variability) Symptoms – wheeze, cough, breathlessness, chest tightness
69
features asthma
Clinical features: Asthmatic wheeze is a polyphonic, Symptoms worse at night and in the early morning, Symptoms that have non-viral triggers, Interval symptoms, i.e. symptoms between acute exacerbations, Personal or family history of an atopic disease, Positive response to asthma therapy  On examination: Long standing asthma – hyperinflation, generalised polyphonic expiratory wheeze with a prolonged expiratory phase. Onset of asthma in early childhood may result in Harrison’s sulci
70
ix asthma
Younger children – asthma usually diagnosed from history and exam alone. Skin-prick testing for common allergens may be performed to aid the diagnosis of atopy and to identify allergens. Peak expiratory flow rate (PEFR) may be measured or spirometry performed - Poorly controlled asthma leads to increased variability in peak flow, with both diurnal and day-to-day variation.
71
mx chronic asthma 5-16
1. SABA, 2. SABA + ICS, 3. SABA + ICS + LTRA, 4. SABA + MART, 5. SABA and MART with moderate dose ICS, 6. Asthma specialist: MART with high dose ICS or additional drug e.g. theophylline
72
mx chronic asthma <5
1. SABA, 2. 8wk trial moderate dose ICS + SABA, 3. If sx recur within 4wk stopping ICS start low dose ICS, if after 4wk then redo trial, 4. ICS + LTRA + SABA, 5. stop LTRA and refer
73
cause acute otitis media
Most common at 6-12 months of age. Infants + young children prone to it = Eustachian tubes are short, horizontal and function poorly. Pathogens include viruses (esp. RSV and rhinovirus), bacteria incl. pneumococcus, H. influenzae and Moraxella catarrhalis
74
sx acute otitis media
Pain in the ear + fever.
75
complications acute otitis media
mastoiditis and meningitis (uncommon)
76
mx acute otitis media
: analgesia. Most cases resolve spontaneously. Antibiotics reduce duration of pain, give if unwell still after 2-3d – amoxicillin usually
77
glue ear
acute otitis media with effusion
78
cause glue ear
Recurrent ear infections
79
features glue ear
Usually asymptomatic apart from possible decreased hearing. The eardrum is seen to be dull and retracted, often with a fluid level visible.
80
mx glue ear
Conservation – do nothing, Eustachian tube auto inflation (Otovent balloon), In children that develop conductive hearing loss due to this, insertion of grommets (ventilation tubes) is performed, but benefits only last 12 months
81
sensorineural hearing loss
caused by a lesion in the cochlea or auditory nerve and is usually present at birth
82
conductive hearing loss
from abnormalities of the ear canal of the middle ear, most often from otitis media with effusion
83
causes sensorineural hearing loss
Causes: Genetic (the majority). Antenatal and perinatal: Congenital infection, preterm, Hypoxic-ischaemic encephalopathy, Hyperbilirubinaemia. Postnatal: Meningitis/ encephalitis, Head injury, Drugs e.g. aminoglycosides, furosemide, Neurodegenerative disorders
84
mx sensorienural hearin gloss
severe bilateral sensorineural hearing impairment will need early amplification with hearing aids for optimal speech and language development. Children with microtia and meatal atresia can be helped with bone conduction hearing aids Cochlear implants may be required where hearing aids give insufficient amplification Gesture, visual context and lip movement will also allow children to develop language concepts. Specialist teaching and support service in preschool and school years is provided by peripatetic teachers for children with hearing impairment.
85
causes conducitve eharing loss
It is much more common than sensorineural hearing loss. In association with URTI, many children have episodes of hearing loss, which are usually self-limiting. In some cases of chronic otitis media with effusion, the hearing loss may last months or years. Children with Down syndrome, cleft palate and atopy are particularly prone to hearing loss from middle ear disease.
86
diagnosis conductive hearin g;oss
Impedance auditory tests, which measure the air pressure within the middle ear and the compliance of the tympanic membrane
87
mx conductive hearin gloss
t: If the condition does not improve spontaneously, medical treatment (decongestant or a long course of abx or treatment of nasal allergy) can be given. If that fails, surgery is considered, with insertion of tympanostomy tubes (grommets) with or without the removal of adenoids.
88
nystagmus
= A repetitive, involuntary, rhythmical eye movement.
89
causes nystagmus
May be found in association with a structural eye problem (sensory defect nystagmus) but can also be a consequence of a problem at the cortical level. If no structural eye or brain problem is found = idiopathic nystagmus.
90
squint
strabismus) = Misalignment of the visual axes.
91
causes strabismus
common underlying cause is refractive error, but cataracts, retinoblastoma, and other intraocular causes must be excluded. Higher incidence of strabismus in infants with cerebral palsy
92
esotropia
One eye looks straight ahead; another eye looks towards the nose (convergent)
93
exotropia
One eye looks straight ahead; another eye looks outwards (divergent)
94
hypertropia
One eye looks straight ahead; another eye looks upwards (vertical)
95
hypotropia
One eye looks straight ahead; another eye looks downwards (vertical)
96
concomitant squint
non-paralytic, common) – usually due to a refractive error in one or both eyes. Correction of the refractive error with glasses often corrects the squint. The squinting eye most often turns inwards (convergent) but there can be outward (divergent), or vertical deviation
97
paralytic squint
(rare) – varies with gaze direction due to paralysis of the motor nerves. This can be sinister because of the possibility of an underlying space-occupying lesion such as a brain tumour.
98
ix squint
corneal light reflex, cover test
99
mx squint
Conservative=Optical - glasses/ CL, Prisms, Orthoptic exercises. Surgery. Botulinum toxin injection
100
causes severe visual impairment
Cataract, Albinism, Retinal dystrophy, Retinoblastoma, Congenital infection Retinopathy of prematurity, Hypoxic-ischaemic encephalopathy, Cerebral abnormality/ damage, Optic nerve hypoplasia , Trauma, Infection , Juvenile idiopathic arthritis
101
hypermetropia
(long sight): Can be corrected with convex (plus) lenses. These make the eye look bigger. 
102
myopia
Myopia (short sight): This is relatively uncommon in young children, presenting usually in adolescence. Can be corrected with concave (minus) lenses. These make the eye look smaller
103
astigmatism
abnormal corneal curvature)
104
amblyopia
clear image. Types: strabismic amblyopia, anisometropia amblyopia, ametropic amblyopia, meridional amblyopia, stimulus deprivation amblyopia
105
tx refractive visual error
underlying condition, together with patching of the ‘good’ eye for specific periods of the day to force the ‘lazy’ eye to work and develop better vision
106
sx preseptal cellulitis
: erythema and oedema around one eye but normal visual acuity and eye movements
107
sx orbital celluliits
erythema and oedema around one eye, fever, reduced visual acuity, and painful eye movements – visual symptoms and limited eye movements
108
mx orbital cellulitis
Need CT scan and IV abx
109
sx bacterial conjunctivitis
itchy, irritated eyes with purulent discharge
110
when does squint become abnormal
>3m
111
atrial septal defect
L to R shunt Secundum ASD (80%)  Defect in the centre of the atrial septum involving the foramen ovale Partial AVSD (common in trisomy 21) Defect of the atrioventricular septum
112
features atrial septal defect
Recurrent chest infections, arrhythmias, Ejection systolic murmur at the upper left sternal edge CXR: Cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings ECG: Secundum – RBBB, right axis deviation Partial – superior QRS axis
113
mx atrial septal defect
Secundum – cardiac catherisation with insertion of occlusion device Partial – surgical correction
114
VSD
L to R shunt Small – smaller than the aortic valve Large – same size/larger than the aortic valve
115
features VSD
Small – loud pansystolic murmur, quiet P2 Large – soft panstolic murmur, thrill, loud P2 Heart failure, breathlessness, faltering growth, recurrent chest infections CXR: Cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings, pulmonary oedema ECG: Biventricular hypertrophy
116
mx VSD
Surgery at 3-6 months to prevent Eisenmenger's
117
PDA
L to R shunt Presents in pre-term, flow of blood is from aorta to pulmonary artery
118
features PDA
Continuous murmur, collapsing pulse, left subclavicular thrill, heaving apex bear, wide pulse pressure Hepatomegaly, oedema
119
mx PDA
Cardiac catherisation + insertion of occlusion device 1 yrs. Indomethacin to neonate
120
tetralogy of fallot
R to L shunt Large ventricular septal defect, aorta overriding the VSD, pulmonary stenosis, right ventricular hypertrophy
121
sx and signs tetralogy of fallot
Ejection systolic murmur at the left sternal edge, clubbing, central cyanosis Dyspnoea on exertion, delayed puberty, low growth, cyanosis within first wk CXR: Boot shaped heart ECG: RVH
122
mx tetralogy of fallot
Surgery in first 2 years of life – closure of the VSD and correction of the pulmonary stenosis
123
transposition of the great ateries
R to L shunt Aorta is connected to the right ventricle and pulmonary artery is connected to the left ventricle. Blue blood returned to body; pink blood to lungs
124
featuers transposition of the great arteries
Cyanosis by day 2 of life, loud/single S2, no murmur CXR: Narrow upper mediastinum with an ‘egg on side’ appearance of the cardiac shadow ECG: Biventricular hypertrophy
125
mx transposition of the great arteries
Maintain ductal patency with prostaglandin infusion.  Balloon atrial septostomy
126
AVSD
Seen in Down’s syndrome. A defect in the middle of the heart with a single five-leaflet valve between the atria and the ventricles. Stretches across the whole AV junction. Tends to leak
127
features AVSD
Cyanosis at birth OR heart failure 2-3 weeks of life
128
mx AVSD
Surgical repair 3-6 months of age
129
aortic stenosis
Aortic valve leaflets are partly fused together, giving a restrictive exit from the left ventricle
130
features aortic stenosis
Carotid thrill, ejection systolic murmur radiating to the neck, Only if severe stenosis – reduced exercise tolerance, chest pain on exertion, syncope CXR: Prominent left ventricle with post stenotic dilatation of the ascending aorta ECG: LVH
131
mx aortic stenosis
Balloon valvotomy, aortic valve replacement
132
pulmonary stenosis
Pulmonary valve leaflets are partly fused together, giving a restrictive exit from the right ventricle
133
eatures pulmonary stenossi
Ejection systolic murmur, ejection click at upper left sternal edge. If severe – heave (right ventricle). Asymptomatic CXR: Post stenotic dilatation of the pulmonary artery ECG: RVH
134
mx pulmonary stenossi
Transcatheter balloon diltation
135
coarctation of the aorta
Congenital narrowing of the descending aorta - Excessive blood flow is diverted through the carotid and subclavian vessels into systemic vascular shunts to supply the rest of the body 🡪 stronger perfusion to the upper body than the lower
136
features coarctation of the aorta
Radio-femoral delay, weak femoral pulse, systolic murmur, discrepancy between upper/lower limb BP. Heart failure Can lead to infective endocarditis CXR: cardiomegaly, irregularities of the inferior margins of the posterior ribs
137
mx coarctation of the aorta
ABCs, prostaglandins, balloon dilation and surgery
138
circulatory changes at birth
1.In the foetus, the left atrial pressure is low, as relatively little blood returns from the lungs. 2.The pressure in the right atrium is higher than in the left, as it receives all the systemic venous return including blood from the placenta. 3.The flap valve if the foramen ovale is held open, blood flows across the atrial septum into the left atrium, and then into the left ventricle, which in turn pumps it to the upper body. 4.With the first breaths, resistance to pulmonary blood flow falls and the volume of blood flowing through the lungs increases six-fold. 5.This results in a rise in the left atrial pressure. Meanwhile, the volume of blood returning to the right atrium falls as the placenta is excluded from the circulation. 6.The change in the pressure difference causes the flap valve of the foramen ovale to be closed. 7.The ductus arteriosus, which connects the pulmonary artery to the aorta in foetal life, will normally close within the first few hours or days.
139
causes dilated cardimyopathy
inherited, secondary to metabolic disease of a result of direct viral infection of the myocardium
140
features cardiomyopathy
an enlarged heart and heart failure who was previously fit and well
141
diagnosis cardio,yopathy
echo
142
mx cardiomyopathy
diuretics and ACEi and carvedilol, a a-adrenoceptor blocking agent. Usually improves spontaneously, but some children may require heart transplants
143
who is at increased risk infective endocarditis
VSD, coarctation of the aorta and PDA or if prosthetic material has been inserted at surgery
144
features IE
Clinical features: Fever, Anaemia and pallor, Splinter haemorrhages in nailbed, Clubbing (late), Necrotic skin lesions, Changing cardiac signs, Splenomegaly, Neurological signs from cerebral infarction, Retinal infarcts, Arthritis/ arthralgia, Haematuria (microscopic
145
diagnosis IE
Blood cultures. Echo. Acute-phase reactants are raised
146
cause IE
= B-haemolytic streptococcus
147
mx IE
Bacterial endocarditis is usually treated with high-dose penicillin in combination with an aminoglycoside (6 weeks IV therapy). Infected prosthetic material may require surgical removal
148
features HF
Symptoms: Breathlessness (particularly on feeding or exertion), Sweating poor feeding, Recurrent chest infections Signs: Poor weight fain or faltering growth, Tachypnoea, Tachycardia, Heart murmur, gallop rhythm, Enlarged heart, Hepatomegaly, Cool peripheries
149
cause HF
In the first week of life, heart failure usually results from left heart obstruction, e.g. coarctation of the aorta. (Right-to-left shunt) After the first week, progressive heart failure is most likely due to a left-to-right shunt.
150
eisenmenger syndrome
If a left-to-right shunt is left untreated, these children will develop Eisenmenger syndrome, which is irreversibly raised pulmonary vascular resistance resulting from chronically raised pulmonary arterial pressure and flow. Now the shunt is right-to-left, and the teenager is blue
151
mx eisenmenger syndrome
heart lung transplant
152
features rheumatic fever
Latent interval of 2-6 weeks following a pharyngeal or skin infection, polyarthritis, mild fever and malaise develop.
153
diagnosing rheumatic fever
two major, or one major and two minor criteria plus supportive evidence of preceding group A streptococcal infection
154
major jones criteria
carditis (endocarditis-significant murmur or valvular dysfunction, myocarditis-may lead to HF, pericarditis-pericardial friction rub, pericardial effusion, tamponade), migratory arthritis (ankles/knees/wrists tender, red, swollen), Sydenham chorea, erythema marginatum, subcutaneous nodules
155
minor jones criteria
fever, polyarthralgia, raised ESR/CRP/leucocytes, prolonged PR on ECG
156
mx rheumatic fever
Acute rheumatic fever = bed rest and anti-inflammatory agents. Corticosteroids may be required if fever and inflammation not resolving. Symptomatic heart failure is treated with diuretics and ACEi. Significant pericardial effusions will require pericardiocentesis Effective prophylaxis = monthly injections of benzathine penicillin. Prophylaxis is for 10 years/ until the age of 21 (which is longer).
157
supraventricular tachycardia
Most common child arrhythmia 250-300beats/min
158
presentation supraventicualr tachycardiq
Poor cardiac output, pulmonary oedema, hydrops fetalis/intrauterine death
159
ECG supraventrivcualr tachcyardi
re-entry tachcyardia narrow complex 250-300bpm
160
mx supraventricualr tachcyardia
Restore sinus rhythm 🡪 IV adenosine Maintenance therapy 🡪 flecainide/ sotalol 
161
congenital heart block
Related to maternal anti-ro/anti-La antibodies Prevents normal development of the electrical conduction system in the developing heart 🡪 Atrophy and fibrosis of the atrioventricular node
162
presentation congenital heart block
Presyncope / syncope Death in utero/heart failure in neonates
163
ECG congenital heart block
P and QRS are dissociated
164
mx congenital heart block
an endocardial pacemaker
165
long QT syndrome
Autosomal dominant Assess if family hx of sudden death / syncope
166
presentation lock QT syndrome
Sudden LOC during exercise/stress 
167
mx long QT syndrome
Bblockers, pacemaker
168
ductus venosus role and remnant
allows blood from the placenta to bypass the highly demanding, but relatively inactive liver -> ligamentum venosum
169
ductus arteriosus role and remnant
allowing blood to pass straight from the right ventricle into the aorta and bypass the inactive lungs ->ligamentum arteriosum
170
forament ovale role and remnant
creates a shunt between the right atrium and the left atrium so oxygenated blood from the placenta can move to the left atrium -> fossa ovalis
171
causes of acute dairrhoea
Infective gastroenteritis, Non-enteric infections e.g. respiratory tract, Food hypersensitivity reactions, NEC, Drugs e.g. antibiotics, Henoch-Schonlein purpura, Intussusception (<4yrs), Haemolytic-uremic syndrome, Pseudomembranous enterocolitis
172
mx acute diarrhoea
Assess hydration and vital signs, pallor (blood loss), abdominal tenderness
173
mx mild/moderate dehydration
Replace fluid and electrolyte losses with oral glucose-electrolyte based rehydration fluid e.g. Dioralyte
174
mx severe dehydration/shock
U&E, creatinine, FBC, blood gas, stool M,C&S/virology, tests for specific disease + IV fluid and electrolyte replacement
175
causes of chronic diarrhoea <2y
Malabsorption e.g. post-infective gastroenteritis syndrome, lactose intolerance, cystic fibrosis, coeliac disease, Food hypersensitivity e.g. to cow’s milk protein, Chronic non-specific diarrhoea (toddler diarrhoea): child is usually thriving, Excessive fluid intake, Protracted infectious gastroenteritis, Immuno-deficiencies, Hirschsprung’s disease, Tumours (secretory diarrhoea), Fabricated induced illne s
176
causes of chronic dirahhoea in older children
IBD, Constipation (spurious diarrhoea), Malabsorption, IBS, Chronic infections, including giardiasis, bacterial overgrowth and pseudomembranous colitis, Laxative abuse (EDs), Excessive fluid intake, Fabricated induced illness
177
ix chronic dirahhoea
Stool microscopy, Blood: U&E, FBC, increased CRP/ESR. Radiology: AXR, US, barium meal and follow through
178
causes acute vomiting
infection, GI obstruction (congenital or acquired e.g. pyloric stenosis), adverse food reaction, poisoning, raised ICP, DKA
179
causes chronic vomiting
eptic ulcers, GORD, chronic infection, gastritis, gastroparesis, food allergy, psychogenic, bulimia, pregnancy. Cyclic: idiopathic, CNS disease, abdominal migraine, endocrine, metabolic, intermittent GI obstruction, fabricated illness
180
consequences of vomiting
Metabolic = Potassium deficiency, Alkalosis, Sodium depletion. Nutritional . Mechanical injuries to oesophagus and stomach: Mallory-Weiss, Boerhaave's syndrome, Tears of the short gastric arteries resulting in shock and hemopritoneum. Dental: erosions and caries. Oesophageal stricture, Barrett's metaplasia, broncho-pulmonary aspiration, FTT, anaemia
181
causes of constipation
= Low fibre diet, Lack of mobility and exercise, Poor colonic motility. Gastrointestinal: Hirschsprung’s disease, Anal disease (infection, stenosis, ectopic, fissure, hypertonic sphincter), Partial intestinal obstruction, Food hypersensitivity, Coeliac disease. Non-gastrointestinal: Hypothyroidism, Hypercalcaemia, Neurological disease e.g. spinal disease, Chronic dehydration e.g. diabetes insipidus, Drugs e.g. opiates and anticholinergics, Sexual abuse
182
ix in constipation
Investigations: If an organic cause is suspected consider: FBC – coeliac antibody screen, thyroid function tests, RAST testing. AXR, rectal biopsy (Hirschsprung’s disease).
183
mx constipation
tx cause. Dietary: increased oral fluid and fibre intake, natural laxatives, e.g. fruit juice. Behavioural measures: toilet footrests, regular 5min toilet time after meals, star charts and rewards for child passing stool. Regular oral faecal softeners e.g. Movicol, lactulose, or sodium docusate, will aid disimpaction. Oral stimulant laxatives, e.g. Senna, sodium picosulphate, may be required
184
abdo pain alarm feature
nvoluntary weight loss, Deceleration of linear growth, GI blood loss (visible or occult), Significant vomiting (incl. bilious, protracted, cyclical), Chronic severe diarrhoea, Persistent right upper or lower quadrant pain, Unexplained fever, Family Hx IBD, Abnormal or unexplained physical findings
185
presentation chronic non specific diarrhoea
toddlers diraahoea 6m-5y Presents with colicky intestinal pain, increased flatus, abdominal distension, loose stools with undigested food . Child is otherwise well and thriving
186
GORD
reflux is repeated and severe enough to cause harm. Reflux is very common in infancy and is associated with slow gastric emptying, liquid diet (milk), horizontal posture, and low resting lower oesophageal sphincter (LOS) pressure.
187
GORD presentation
Regurgitation, Non-specific irritability, Rumination , Oesophagitis (heartburn, difficult feeding with crying, painful swallowing, haematemesis), Faltering growth (calorie deficiency due to profuse reflux of ingested calories), Apnoea, Hoarseness, Cough, Stridor, Lower respiratory disease – aspiration, pneumonia, asthma
188
complications GORD
Oesophageal stricture (dysphagia), Barrett’s oesophagus (premalignant intestinal metaplasia), Faltering growth, Anaemia (chronic blood loss), Lower respiratory disease
189
ix GORD
Only appropriate when diagnosis uncertain, and there is poor response to treatment, Upper GI endoscopy, Oesophageal biopsy , 24hr oesophageal pH probe
190
mx GORD
Positioning, thickened milk feeds (infants), small frequent meals, avoid food before sleep, fatty foods, citrus juices, caffeine and carbonated drinks, gastric acid reducing drugs e.g. H2 receptor antagonists (ranitidine) or omeprazole (if oesophagitis) or Gaviscon. Surgery: only indicated if failure of intense medical treatment.
191
causes viral gastroenteritis
Rotavirus (most common), Small round structural virus e.g. winter vomiting disease caused by ‘Norwalk agent’, Enteric adenovirus, Astrovirus, CMV (in immune-comprised patients)
192
presentation viral gastroenteritis
Water diarrhoea (rarely bloody), Vomiting, Cramping abdominal pain, Fever, Dehydration, Electrolyte disturbance, Upper respiratory tract signs common with rotavirus, Vomiting predominates with Norwalk virus
193
mx viral gastroenteritis
Give supportive rehydration orally or with a nasogastric tube, or IV glucose and electrolyte solution
194
causes bacterial gastroenteritis
Salmonella, Campylobacter jejuni, Shigella, Yersinia enterocolitica, Escherichia coli, Clostridium difficile, Bacillus cereus, Vibrio cholerae Sources of infection include contaminated water, poor food hygiene (meat, fresh produce, chicken, eggs, previously cooked rice), faecal-oral route.
195
presentation bacterial gastroenteritis
As for viral gastroenteritis plus: Malaise, Dysentery (bloody and mucous diarrhoea), Abdominal pain may mimic appendicitis or IBD, Tenesmus (feeling as though you need to pass stools even though your bowel is empty)
196
complications bacterial gastroenteritis
Bacteraemia, Secondary infections (particularly Salmonella, Campylobacter), e.g. pneumonia, osteomyelitis, meningitis, Reiter’s syndrome (Shigella, Campylobacter)
197
ix bacterial gastroenteritis
Stool +/- blood culture (some organisms need specific culture medium), Stool Clostridium difficile toxin, Sigmoidoscopy if IBD or colitis
198
mx bacterial gastroenteritis
Rehydration as for viral gastroenteritis. Consider: Erythromycin if Campylobacte, Oral vancomycin or metronidazole if Clostridium difficile (causes pseudomembranous colitis).
199
dehydration classification
Dehydration in children is classified as mild (<5%), moderate (5-10%) and severe (>10%).
200
presentation dehydration
: Children with mild dehydration appear completely normal on examination. Children with moderate dehydration appear well, but have reduced urine output and dry mucous membranes in the absence of other red flag features. Children with severe dehydration have red flag features including a pale, mottled appearance, cool extremities, tachycardia, tachypnoea and/or hypotension, delayed capillary refill, or a change in consciousness.
201
features crohns disease
Symptoms: Diarrhoea , Abdominal pain, Weight loss/failure to thrive, Systemic symptoms: fatigue, fever, malaise, anorexia GI Signs: Aphthous ulcers , Abdominal tenderness/mass, Perianal abscess/fistulae/skin tags, Anal strictures, Abdominal distension (UC>CD), RIF mass Non-GI signs and associations: Fever, Finger clubbing, Anaemia, Skin: erythema nodosum, pyoderma gangrenosum. Joints: arthritis, ankylosing spondylitis. Eyes: iritis, conjunctivitis, episcleritis. Poor growth, Delayed puberty, Sclerosing cholangitis, Renal stones, Nutritional deficiencies e.g. vitamin B12
202
complication crohsn disease
Small bowel obstruction, Toxic dilatation , Abscess formation, Fistulae , Malnutrition
203
ix crohns disease
Colonoscopy and biopsy=Crypt abscesses, granulomas, transmural inflammation. Radiology=Mucosal ‘cobblestone’ appearance, ulceration, dilatation, narrowed segments, fistula, ‘skip lesions
204
mx crohns disease
Mild-moderate = Oral 5-aminosalicylic acid (ASA) dimers, e.g. mesalazine. Moderate to severe = Induce remission with oral prednisolone or IV methylprednisolone, 1-2mg/kg/day until condition improved (<2wks) then wean over 6-8wks.. Antibiotics: e.g. ciprofloxacin or metronidazole, may also be useful. Maintenance treatment: immunomodifiers e.g. azathioprine, ciclosporin, tacrolimus, methotrexate, or infliximab (anti-TNF antibody). Surgery: local surgical resection for severe localised disease e.g. strictures, fistula, may be indicated, but there is a high re-operation rate as inflammation recurrence is universal.
205
features ulcerative colitis
Symptoms: Episodic or chronic diarrhoea, Crampy abdominal discomfort, Bowel frequency relates to severity, Urgency/tenesmus – proctitis, Systemic symptoms: fever, malaise, anorexia, weight loss Signs: Acute, severe UC – fever, tachycardia, tender distended abdomen. Extra-intestinal signs: Clubbing, Aphthous oral ulcers, Conjunctivitis
206
ix UC
Endoscopy: UC histology – crypt abscesses, mucosal inflammation only, goblet cell depletion. Radiology: Mucosal ulceration, haustration loss, colonic narrowing +/- shortening
207
mx UC
: Mild UC = Mesalamine is the mainstay for remission-induction/maintenance. Moderate UC=Induce remission oral prednisolone. Surgery: total colectomy and ileostomy, and later pouch creation and anal anastomosis, cures UC.
208
pathology coeliac disease
: T-cell responses to gluten in the small bowel causes villous atrophy and malabsorption.
209
resentation coeliac disease
Pallor, Diarrhoea, Pale, bulky floating stools, Anorexia, FTT, Irritability. Later: Apathy, Gross motor developmental delay, Ascites, Peripheral oedema, Anaemia, Delayed puberty, Arthralgia, Hypotonia, muscle wasting, Specific nutritional disorders
210
ix coeliac disease
Low Hb, B12 and ferritin. Antibodies: anti-transglutaminase is single preferred test – check IgA levels, Serum tissue transglutaminase IgA antibody (TTG). Endoscopy small bowel biopsy of the third part of the duodenum shows diffuse, subtotal villous atrophy, increased intraepithelial lymphocytes, and crypt hyperplasia
211
IBS
A mixed group of abdominal symptoms for which no organic cause can be found. Most are probably due to disorders of intestinal motility, enhanced visceral perception or microbial dysbiosis.
212
presentation IBS
: Urgency, Abdominal bloating/distension, Worsening of symptoms after food, Symptoms are chronic >6 months and often exacerbated by stress, menstruation or gastroenteritis.
213
ix IBS
: FBC, CRP, ESR, U&E, Coeliac screen, Faecal calprotectin Only diagnose IBS if recurrent abdominal pain associated with at least 2 of: Relief by defecation, Altered stool form, Altered bowel frequency (constipation/diarrhoea)
214
mx IBS
Should focus on controlling symptoms, initially using lifestyle/dietary measures, then cognitive therapy or pharmacotherapy if required. Constipation: ensure adequate water and fibre intake and promote physical activity. Diarrhoea: avoid sorbitol sweeteners, alcohol and caffeine. Reduce dietary fibre content, encourage patients to identify their own trigger foods. Colic/bloating: oral antispasmodics e.g. buscopan. Combination probiotics in sufficient doses may help flatulence or bloating. Less alcohol intake. Psychological symptoms/visceral hypersensitivity: emphasize the positive. Sinister pathology has been excluded and symptoms tend to improve over time. Consider CBT and hypnosis.
215
causes poor feeding
Premature birth – most common, Traumatic birth injuries that lead to neurological disorders, such as cerebral palsy, Cleft lip and/or cleft palate, Autism, Neck and head abnormalities, Low birth weight, Respiratory problems, Heart disease.
216
features of poor feeding
Arching the back and body while feeding, Fussiness or lack of alertness while feeding, Refusing to eat and drink food and liquids, Excessively long feeding times, Hoarse, or breathy voice quality, Frequent spitting up and/or vomiting, Recurring pneumonia or respiratory infections, Poor weight gain or growt
217
mx poor feeding
Medications, Food temperature and texture changes, Postural or positioning changes, Mouth exercises to make the mouth muscles stronger  
218
failure to threive
Weight is the most sensitive indicator in infants and young children, whilst height is better in the older child. Definition: Fall across 2 centiles on growth chart
219
causes FTT
not enough food being offered or taken, socioeconomic difficulty, emotional deprivation, unskilled feeding , Decreased appetite e.g. psychological or secondary to chronic illness, Inability to ingest, e.g. GI structural or neurological problems, Excessive food loss, e.g. severe vomiting (GORD, pyloric stenosis, dysmotility), diabetes mellitus (urine), Malabsorption, Increased energy requirements e.g. congenital heart disease, CF, malignancy, sepsis, Impaired utilisation (various syndromes)
220
mx FTT
If it resolves in a few weeks, give positive reinforcement and supervise, subsequent growth as an outpatient. If it persists, admit to hospital and observe under supervised adequate dietary input. Adequate growth suggests a non-organic cause
221
kwashiorkor
Kwashiorkor is a form of severe protein malnutrition characterized by oedema and an enlarged liver with fatty infiltrates. It is caused by sufficient calorie intake, but with insufficient protein consumption, which distinguishes it from marasmus. 
222
features kwashiorkor
Growth retardation, Diarrhoea, Apathy, Anorexia, Oedema, Skin/hair depigmentation , Abdominal distension with fatty live
223
ix kwashiorkor
Bloods = hypoalbuminaemia, normo- and microcytic anaemia, low calcium, magnesium, phosphate, and glucose
224
mx kwashiorkor
Correct dehydration and electrolyte imbalance, Treat underlying infection and/or parasitic infections, Treat concurrent/causative disease and nutrient deficiencie
225
marasmus
inadequate energy intake in all forms, including protein.
226
features marasmus
Height is relatively preserved compared to weight, Wasted appearance, Muscle atrophy, Listless, Diarrhoea, Constipation
227
ix marasmus
Low serum albumin, Hb, U&Es, calcium, magnesium, phosphate and glucose, stool MC&S for intestinal ova, cysts and parasites
228
mx marasmus
: Correct dehydration and electrolyte imbalance, Treat underlying infection and/or parasitic infections, Treat concurrent/causative disease and nutrient deficiencies
229
presentation pyloric stenosis
M>F, may be a fhx, projectile non bile stained vomit first 4-6w life, hypochloraemic, hypokalaemic metabolic alkalosis
230
ix pyloric stenosis
Test feed or USS
231
my pyloric stenosis
Correct alkalosis, Ramstedt pyloromyotomy
232
presentation acute appendicitis
Uncommon <3y, Pain is aggravated by movement – right iliac fossa, Child may prefer to lie still with knees flexed, Mild fever, Peritoneal irritation results in involuntary spasm in the muscles of the abdominal wall (guarding).
233
ix acute appendicitis
USS
234
mx acute appendicitis
appendicectomy
235
presentation mesenteric adenitis
central abdo pain and urti
236
mx mesenteric adenitis
conservative
237
presentation intussusception
Telescoping bowel proximal to or at level of ileocaecal valve. 6-9m, colicky pain, diarrhoea, vomiting, sausage shaped mass, red jelly stool, drawing up of legs
238
ix intussusception
USS-target sign, AXR-small bowel obstruction
239
mx intussusception
Reduction and air inflation
240
presentation intestinal malrotation
High caecum at midline. Features in examphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia. May be complicated by volvulus (bile stained vomiting)
241
ix intestinal malrotation
Upper GI contrast study and USS
242
x intestinal malrotation
Laparotomy , if volvulus = ladds procedure
243
presentation hirschsprungs
Absence of ganglion cells from myenteric and submucosal plexuses. Delayed passage of meconium and abdo distension
244
ix hirschsprungs
ful thickness rectal biopsy
245
mx hirschsprungs
Rectal washouts then anorectal pull
246
resentation oesophageal atresia
Associated with trachea-oesophageal fistula and polyhydramnios. Choking, cyanotic spells following aspiration
247
presentation meconium ileus
Delayed passage meconium and abdo distension. Associated with CF
248
ix meconium ileus
AXR = bubbly, will not show fluid level.
249
mx meconium ileus
PR contrast and NG N-acetyl cysteine, Gastrograffin enema, surgery
250
presentation biliary atresia
Jaundice >14d, increased conjugated bilirubin, wt loss, swollen abdo
251
ix biliary atresia
Liver biopsy
252
my biliary atresia
Kasai procedure
253
presentation necrotising enterocolitis
RF=prematurity. Abdo distension and passage of bloody stools
254
ix necrotising enterocolitis
XR=pneumatosis intestinalis and free air
255
mx necrotising enterocolitis
TPN, if perforates laparotomy
256
presentation meckels diverticulum
presence of the embryonic vitelline duct that normally involutes during late foetal development.GI bleeding, obstruction, inflammation, umbilical discharge.
257
ix meckels diverticulum
Technetium 99 scan.
258
mx meckels diverticulum
Laparotomy and resection
259
causes chronic liver failure
Chronic hepatitis (After viral hepatitis B or C), Biliary tree disease e.g. biliary atresia, Toxin-induced e.g. paracetamol, alcohol, Alpha1-antitrypsin deficiency, Autoimmune hepatitis, Wilson’s disease (age >3yrs), Cystic fibrosis, Alagille syndrome or non-syndromic paucity of bile ducts, Tyrosinemia , Primary sclerosing cholangitis, PN-induced, Budd-Chiari syndrome
260
presentation chronic liver failure
Jaundice (not always), GI haemorrhage (portal hypertension and variceal bleeding), Pruritus , FTT, Anaemia, Enlarged hard liver (though liver often small in cirrhosis), Non-tender splenomegaly, Hepatic stigmata e.g. spider naevi, Peripheral oedema and/or ascites, Nutritional disorders e.g. rickets, Developmental delay or deterioration in school performance, Chronic encephalopathy
261
mx chronic liver failure
Treat the underlying cause and give nutritional support - Lower protein, increased energy, higher carbohydrate diet, Vitamin supplementation, particularly fat soluble vitamins A,D,E,K. involve a paediatric dietitian. Drug therapy: Prednisolone +/- azathioprine for autoimmune hepatitis, Interferon-alpha +/- ribavirin for chronic viral hepatitis, Penicillamine for Wilson’s disease, Colestyramine may be useful to control severe pruritus, Vitamin K1 if significant coagulopathy or bleeding. Treat symptoms: Oesophageal varices – endoscopy, Ascites – fluid restriction and spironolactone, Encephalopathy – reduce GI ammonia absorption using oral lactulose, Liver transplant
262
presentation alpha 1 antitrypsin deficiency
Cholestasis in infancy, may progress to liver failure, Cirrhosis can occur in late childhood to adult. Chronic liver disease affects 25% of patients in late adulthood. Pulmonary emphysema is the commonest presentation in adulthood
263
mx alpha 1 antitrypsin deficincy
 Treatment: Supportive treatment of liver complications, Liver transplant for end-stage liver failure
264
nheritance wilson
autosomal recessive disorder  
265
presentation wilsons
Kayser-Fleischer rings (copper deposition in Descemet’s membrane in the eye) often present and are pathognomonic. May require slit-lamp examination to visualise. Hepatic problems usually present in childhood (hepatitis, cirrhosis, fulminant hepatic failure). Adolescents/ young adults usually present with neurological disease
266
ix wilsons
Serum copper and ceruloplasmin low, 24hr urinary copper excretion >100microgram (normal <40), Molecular genetic testing – Wilson’s gene (ATP7B) mutation
267
mx wilsons
Lifelong chelation therapy with penicillamine (reverses pre-cirrhotic liver disease, but not neurological damage), Liver transplantation if end-stage hepatic failure
268
colic
when an infant who isn't sick or hungry cries for more than 3 hours a day, more than 3 days a week, for more than 3 weeks.
269
presentation colic
likely to start around 2 weeks of age if your infant is full-term, or later if they were born prematurely. Features: It's hard to soothe or settle your baby, They clench their fists, They go red in the face, They bring their knees up to their tummy or arch their back, Their tummy rumbles or they're very windy
270
inguinal hernia features
More common in boys, More common on the right side, usually asymptomatic, a reducible swelling in groin
271
mx inguinal hernia
Surgical herniotomy. Infants should be repaired within a few weeks of diagnosis because the risk of incarceration is high. incarcerated hernia: results in an intestinal obstruction 
272
mx umbilical hernia
Most will close spontaneously during the first few years of life, regardless of size If the hernia fails to close surgical repair can be performed at around 5yrs of age
273
presentation congenital diaphragmatic hernia
Respiratory distress – tachypnoea, cyanosis, grunting. Scaphoid abdomen (because bowel in chest), Apparent dextrocardia (mediastinum displaced into right thorax, Bowel sounds may be audible in chest (uncommon)
274
mx congenital diaphragmatic hernia
Initial management consists of sedation, paralysis, endotracheal intubation, and mechanical ventilation with 100% O2, repair of the diaphragmatic defect is undertaken after a few days either by primary suture or insertion of a prosthetic patch
275
hiatus hernia
herniation of the stomach into the chest through the oesophageal hiatus in the diaphragm. The lower oesophageal sphincter also moves and becomes incompetent Two types of hiatus hernia are recognised: Sliding (common), Rolling or paraesophageal (rare)
276
mx hiatus hernia
Diagnosis is made radiologically by barium meal. Surgery is reserved for children who fail to respond to medication, complicated reflux (e.g. peptic strictures), and paraesophageal hernias  
277
presentration cows milk allergy
Symptoms depend on where the allergic inflammation is: Upper GI tract – vomiting, feeding aversion, pain. Small intestine – diarrhoea, abdominal pain, protein-losing enteropathy, FTT. Large intestine – diarrhoea, acute colitis with blood and mucus in stools, rarely chronic constipation
278
mx cows milk allergy
, first treat by limiting cow’s milk protein intake (and commonly soy protein). In exclusively breast-fed infants, this is achieved by a maternal exclusion diet to these proteins. In formula fed infants feed with a hydrolysed formula (short peptides)
279
presentation UTI
: Vomiting, poor feeding, with or without abdominal pain or tenderness, Lethargy or irritability, Urinary frequency or dysuria, Haematuria
280
ix UTI
>10,5 organisms/mL in pure growth from a carefully collected urine sample (midstream urine, clean catch urine, or bag urine). Investigations: Dipstick test in the urine. ‘Leucocytes’ and ‘nitrites’ strongly suggests UTI. Urine should be sent for microscopy, culture, and sensitivity,
281
mx UTI
Antibiotics should be started after urine collection e.g. Trimethoprim, Co-amoxiclav. Infants less than 3 months old should be referred immediately to a paediatrician. Children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted 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 should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
282
primary nocturnal enuresis
Majority of cases have no underlying organic cause and it is thought to be due to delayed maturation of bladder control mechanisms.
283
secondary nocturnal enuresis
UTI, spina bifida, diabetes mellitus, diabetes insipidus, Behavioural problems, Abuse
284
nocnturnal enuresis
Encourage regular drinks (water), but restrict in last hour before bed, Give drinking/ voiding chart, Enuresis alarm, >7 years: desmopressin can be considered
285
pre renal causes AKI
Hypovolaemia e.g. gastroenteritis, haemorrhage, DKA, nephrotic syndrome, Peripheral vasodilatation e.g. sepsis, Impaired cardiac output e.g. congestive cardiac failure, Drugs e.g. ACE inhibitors
286
renal causes AKI
Acute tubular necrosis, Interstitial nephritis, Glomerulonephritis, Haemolytic-uraemic syndrome, Cortical necrosis, Bilateral pyelonephritis, Nephrotoxic drugs e.g. aminoglycoside, IV contrast, NSAIDs, Myoglobinuria, haemoglobinuria, Tumour lysis syndrome, Renal artery/ vein thrombosis
287
post renal causes AKI
Obstruction, Post-urethral valves, Neurogenic bladder , Calculi, Tumours (rhabdomyosarcoma in infancy)
288
mx AKI
Treat electrolyte imbalances and shock. Fluids management: pre-renal – fluid bolus and furosemide. Otherwise restrict insensible losses + urine output.   Indications for dialysis: Severe hyperkalaemia, Symptomatic uraemia with vomiting/encephalopathy , Rapidly rising urea and creatinine, Symptomatic fluid overload, especially cardiac failure or pericardial effusion, Uncontrollable hypertension, Symptomatic electrolyte problems or acidosis, Encephalopathy or seizures, Prolonged oliguria: conservative regimen controls ARF, but causes nutritional failure, Removal exogenous toxins or metabolites (inborn error)
289
presentation CKD
Failure to thrive, Polyuria and polydipsia, Lethargy, lack of energy, poor school concentration, Other abnormalities such as ricket
290
auses CKD
Congenital =Renal dysplasia, Obstructive uropathies, Vesicoureteric reflux nephropathy. Hereditary =PKD, Hereditary nephritis, Cystinosis, Oxalosis . Glomerulopathies= Focal segmental glomerulosclerosis. Multisystem disorders=SLE, HSP, Haemolytic-uraemic syndrome. Others=Wilms’ tumour, Renal vascular disease, Unknown
291
hypospadias
A birth defect in which the opening of the urethra is on the underside of the penis instead of at the tip.
292
consequences hypospadias
difficulty urinating while standing and a cosmetic appearance Sexual function is not affected unless chordee, which may cause painful erections, is present
293
mx hypospadias
do not circumcise, surgery
294
vesicoureteral reflux
retrograde flow of urine from the bladder into the upper urinary tract. Grade of VUR: I-V
295
diagnosis vesicoureteral reflux
Micturating cystourethrogram – requires catheter, Indirect cystogram
296
mx vesicoureteral reflux
Prophylactic antibiotics against UTI, surgery 
297
features haemolytic uraemic syndrome
A group of blood disorders characterized by low red blood cells, acute kidney failure, and low platelets. Initial symptoms typically include bloody diarrhoea, fever, vomiting, and weakness. Kidney problems and low platelets then occur as the diarrhoea is improving. Microangiopathic haemolytic anaemia, Thrombocytopenia, Acute kidney failure
298
cause HUS
e.coli
299
phimosis
tigh foreskin
300
nephrotic syndrome
Defined as a combination of: Heavy proteinuria (urinary protein to creatinine ratio >200mg/mmol), Hypoalbuminemia (albumin <25g/L), Oedema, Hyperlipidaemia
301
causes nephrotic syndrome
Primary =Congenital,Infantile. Secondary =Minimal change disease (MCD): commonest, Focal segmental glomerulosclerosis, Membranoproliferative glomerulonephritis, Membranous glomerulonephritis
302
mx nephrotc syndrome
: fluid restriction and prevention of hypovolaemia , Trial of oral steroid therapy to induce remission is also started, Prophylaxis against bacterial infection (particularly pneumococcal)  
303
complications nephrotic syndrome
Predisposition to infection is due to decreased IgG levels, Thrombosis, Hypovolaemia
304
minimal change disease
most common cause of nephrotic syndrome in children (~70%) and is characterised by minimal histological changes in the kidney structure
305
presentation minnimal change disease
facial swelling and are most commonly 1-8 years old. May be asymptomatic
306
mx minimal change disease
Fluid restriction and reduced salt intake, Corticosteroid therapy: prednisolone, Human albumin and furosemide
307
complications minimal change diseas
Spontaneous peritonitis, Thrombosis, Recurrent minimal change disease, Hypertension  
308
nephritic syndrome
Haematuria, Oedema (to a lesser extent compared to nephrotic syndrome), Reduced urine output, Uraemic symptoms (e.g. reduced appetite, fatigue, pruritus, nausea), HTN, mild proteinuria
309
causes neohritic syndrome
Post-infectious = Bacterial: streptococcal commonest, Staphylococcus aureus, Mycoplasma pneumoniae, Salmonella, Virus: herpes viruses (EBV, varicella, CMV), Fungi: candida, aspergillus,Parasites: toxoplasma, malaria, schistosomiasis . Others (less common) = MPGN (membranoproliferative glomerulonephritis), IgA nephropathy, SLE, Subacute bacterial endocarditis, Shunt nephritis
310
mx nephritic syndrome
fluid balance and restrict salt, mx HTN with alpha blocker or CCB
311
features post strep glomerulonephritis
Usually presents 1-2weeks after a URTI and sore throat, treat with antibiotics (penicillin)
312
features HSP
Small vessel vasculitis associated with IgA immune complexes. A triad of arthritis, colicky abdominal pain, and palpable, purpuric rash over buttocks and extensor surfaces of arms and legs.Characteristically affects prepubertal boys. Usually seen in children following an infection. Manage with NSAIDs and corticosteroids
313
features alport syndrome
Sensorineural deafness with progressive nephritis.
314
features SLE
Complex, multisystem AI disorder affecting adolescents. Commoner and more severe in Afro-Caribbean, Hispanic, and Far Eastern girls. The revised ARA criteria for classification of SLE –diagnosed if 4/11 present of: Malar rash, Discoid rash, Photosensitivity, Mouth ulcers, Arthritis (non-erosive), Serositis: pleurisy or pericarditis, Renal disease: persistent proteinuria >0.5g/24hr or cellular casts, Neurological disorder: psychosis or seizures in absence of known precipitants, Haematological abnormality: haemolytic anaemia or leucopoenia, Immunological: raised anti DNA binding antibody, +ve antiphospholipid antibodies, Antinuclear. Management in specialist clinic: avoids sun exposure, ACEi, NSAIDs, hydroxychloroquine, prednisolone
315
features anaohylaxis
Skin: urticaria and angioedema, Respiratory: acute airway obstruction with laryngeal oedema and bronchospasm, swollen tongue/lips, sneezing, wheeze, Gastrointestinal: severe abdominal cramping and diarrhoea, Systemic: tachycardia, hypotension and shock
316
mx anaphylaxis
remove trigger, call for help, A-E assessment, IM adrenaline (150micrograms <6, 300 6-12, 500>12. Also chlorphenamine and hydrocortisone in hospital
317
causes necrotising fascitis
: type 1 is caused by mixed anaerobes and aerobes (often occurs post-surgery in diabetics). type 2 is caused by Streptococcus pyogenes
318
features necrotising fascitis
Acute onset, Pain, swelling, erythema at the affected site-often presents as rapidly worsening cellulitis with pain out of keeping with physical features, extremely tender over infected tissue with hypoaesthesia to light touch, skin necrosis and crepitus/gas gangrene are late signs. Fever and tachycardia may be absent or occur late in the presentation
319
mx necrotising fascitis
Urgent surgical referral debridement, Intravenous antibiotics
320
presentation allergic rhinits
nasal congestion, itching, sneezing, and discharge.
321
ix allergic rhinitis
Skin tests for specific antigens, Specific serum IgE measurements
322
mx allergic rhinitis
Allergen avoidance, Symptom relief=Antihistamines, Montelukast ,Intranasal steroid
323
cause stephens johnson syndrome
usually drug induced with viral infection rarely implicated
324
resentation stephen jonson syndrome
Widespread blisters/ bullae over erythematous, purple macular, or haemorrhage skin, Mucous membranes often affected with haemorrhagic crusting, Rubbing may cause skin separation at epidermodermal junction (= positive Nikolsky sign), Also possible fever, arthralgia, myalgia, prostration, renal failure, pneumonitis, conjunctivitis, corneal ulceration, blindness
325
mx stephen johnson syndrome
Supportive, as for severe burns (e.g. hydration, airway protection), Frequent emollient ointment, Specialist eye care , Systemic corticosteroids or immunoglobulin used in first 2-3 days may be helpful if life-threatening.
326
pathophysiology urticaria
: Adverse stimulus -> mast cell degranulation -> histamine release -> localised vasodilatation and increased capillary permeability.
327
causes urticaria
: Usually idiopathic or triggered by recent viral infection. Often causes include: Allergens (e.g. drugs, foods, inhalants, insect bites), Trauma (physical urticarias) e.g. dermographism due to light skin trauma (commonest), pressure, cold, heat, sunlight. Chronic urticaria (defined as acute urticaria not resolving after 2 mths) is idiopathic in >90%, but may be caused by: Chronic bacterial, fungal (e.g. oral Candida), or parasitic infection
328
presnetaion urticaria
Rapidly developing erythematous eruption with raised central white wheals and occasionally local purpura, Lesions last 4-24hr
329
mx urticaria
Oral antihistamines, Oral prednisolone, short course if severe
330
presentation angiodema
Variant of urticaria with significant swelling of subcutaneous tissues, often involves lips, eyelids, genitals, tongue, or larynx. If severe, may cause acute upper or lower respiratory tract obstruction and may be life-threatening
331
mx angiodema
Give facial oxygen , IM 0.1mL/kg adrenaline 1:10,000, IM/IV hydrocortisone 12-hourly, Nebulised salbutamol
332
presentation staph scalded skin syndrome
Extensive tender erythema with flaccid superficial blisters/bullae (scalded appearance), Erosions and +ve Nikolsky sign, Crusting around eyes and mouth, fever
333
mx staph scalded skin syndrome
: Supportive treatment and analgesia, IV anti-staphylococcal antibiotics, Gentle skin care, emollient ointments
334
presentation infantile seborrheic eczema
Usually appears after a few weeks. Erythema and scaling affects face, neck, behind ears, axillae, scalp, upper trunk, napkin area, and flexures
335
mx infantile seborrheic eczema
Avoid detergents e.g. soap, Use topical emollients, Mild topical steroid/antifungal preparation e.g. 1% hydrocortisone cream
336
cause atopic eczema
: Genetic susceptibility , Impaired epidermal barrier function, Immune dysregulation, Allergen (food and airborne) sensitisation and infection play a lesser role
337
presentation atopic eczema
Acute eczema may be erythematous and weeping, Chronic eczema may be lichenified and dry, These are often 2° changes of excoriation, post-inflammatory hypo/hyperpigmentation and infection, Infant eczema often affects cheeks, elbows, and knees with crawling, Childhood eczema is often flexural, also affects the wrists and ankles, Adolescent and adult eczema is also flexural, but may also affect the head and neck, nipples, palms, and soles
338
mx atopic eczema
General measures: soap avoidance, e.g. soap free bath oil or wash. Limit showers/ baths to 5-10 min in lukewarm water. Moisturise immediately after showering. Wear loose fitting cotton undergarments. Avoid irritants. Mild eczema= A mild potency topical corticosteroid ointment e.g. 1% hydrocortisone, is appropriate daily for anywhere on the body. Mild to moderate eczema=A moderate potency topical corticosteroid ointment e.g. clobetasone butyrate 0.05% is appropriate and safe for daily use on the face and body, but not the groin. Moderate to severe eczema=A potent topical corticosteroid ointment e.g. mometasone furoate, is appropriate daily for the body, but not the face or groin.
339
omplications atopic eczema
Sleep disturbance, Emotional upset, Family dysfunction, Eczema herpeticum (HSV), Staphylococcus aureus infection, Growth delay , Atopic cataracts
340
cause reyers syndrome
aspirin
341
sentation of reyes syndrome
: Abnormal liver function tests, vomiting and encephalopathy (slurred speech, lethargy, coma and potentially death).
342
cavernous haemangioma
Wouldn’t want these near the airway or covering the eye or places where they may get knocked easily and bleed. Contains lots of blood vessels that can bleed easily 90% of them go away by 9 years, leave a tissue-paper scar (thin layer of skin) temmporary
343
capillary haemangioma
permanent Most are just cosmetic nuisance but be cautious of Sturge Weber syndrome A condition that affects the development of certain blood vessels, causing abnormalities in the eyes, skin and brain.
344
a naevi
mole
345
mongolian blue spots
non-caucasian ancestory
346
cafe au lait patch
more than 5=neurofibromatosis II A genetic condition characterised primarily by changes in skin colour and the growth of benign tumours along the nerves of the skin, brain and other parts of the body
347
milia
Sebaceous plugs Nothing to worry about
348
causes od delayed walking
Cerebral palsy, Duchenne muscular dystrophy (DMD), Global neurodevelopmental delay as part of a syndrome or other unidentified cause
349
causes od delayed speech
 Familial: a family history of language delay where parents have been late in developing language skills or have had speech therapy Hearing impairment: chronic otitis media (glue ear) is a common cause for delayed or poor clarity or speech in the pre-school age Environmental: poor social interaction/deprivation Neuropsychological: Global developmental delay, ASD
350
causes of global neurodevelopmental delay
Genetic: Chromosomal disorders e.g. Down syndrome, fragile X, Duchenne muscular dystrophy, Metabolic syndromes e.g. phenylketonuria Congenital brain anomalies e.g. hydrocephalus or microcephaly Prenatal insult: Teratogens e.g. alcohol and drugs, Congenital infections e.g. rubella, CMV, or toxoplasmosis, Hypothyroidism Perinatal insult: Complication of extreme prematurity e.g. intraventricular haemorrhage; periventricular leukomalacia, Birth asphyxia, Metabolic disorder e.g. hypoglycaemia or hyperbilirubinemia Postnatal events: Brain injury: trauma; anoxia e.g. suffocation or drowning, CNS infection: e.g. encephalitis/meningitis, Metabolic: e.g. hypoglycaemia
351
dyspraxia
A disorder of motor planning and/or execution with no significant findings on standard neurological examinations.. A disorder of the higher cortical process and there may be associated problems of perception, use of language and putting thoughts together. Features include problems with: Handwriting, which is typically awkward, messy, slow, irregular and poorly spaced, Dressing (buttons, laces, clothes), Cutting up food, Poorly established laterality , Copying and drawing, Messy eating from difficulty in coordinating biting, chewing and swallowing (oromotor dyspraxia). Dribbling is common. Verbal dyspraxia is where there are more specific difficulties related to speech production in the absence of muscle or nerve damage
352
dyslexia
A disorder of reading skills disproportionate to the child’s IQ. The term is often used when the child’s reading age is more than 2 years behind his/her chronological age
353
newborn gross motor
Flexed arms and legs Equal movements
354
3m gross motor
Lifts head on tummy
355
6m gross motor
Chest up with arm support Rolls Sit unsupported
356
9m gross motor
Pulls to stand
357
1yr+ gross motor
1 year - walking 2 years - walks up stairs 3 years - jumps 4 years - hops 5 years - rides a bike
358
4m fine motor and vision
Grasp an object Uses both hands
359
8m fine motor and f=vision
Takes a cube in each hand
360
1yr+ fine motor and vision
12 months Scribbles with a crayon   18 months Builds a tower of 2 cubes   3 years Tower of 8 cubes
361
speech and language 3m
Laughs and squeals
362
peech and langage 9m
dada, mama
363
speech and langage 1yr
1 word
364
speech and language 2y
2 words sentences, Names body parts but not good at localising pain
365
speech and langiage 3y+
3 years Speech mainly understandable 4 years Knows colours, can count 5 objects 5 years Knows meaning of words e.g. what is a lake?
366
social 6w
Smiles spontaneously
367
ocial 6m
finger feeds
368
social 9m
waves bye
369
social 12m
uses spoon/fork
370
social 2y+
2 years: Takes some clothes off, Feed a doll, Play alongside but not with others 3 years: Play with others, name a friend, Put on a t-shirt 4 years: Dress no help, Play a board game
371
concerninc milestones
Gross motor Not sitting by 1 year Not walking at 18 months   Fine motor Hand preference before 18 months - one side developing really early can indicate a problem with the other side (cerebral palsy)   Speech and language Not smiling by 3 months No clear words by 18 months   Social development No response to carers interactions by 8 weeks Not interested in playing with peers by 3 years - autism?
372
development red flags
Regression Poor health/growth Significant family history Findings on examination e.g. microcephaly, dysmorphic features Safeguarding indicators
373
presentation febrile convulsions
viral infection, brief generalised tonic-clonic seizures.
374
mx febrile convulsion
reduced temp- paracetamol
375
cause reflex anoxic seizures
a precipitating trigger causes over-stimulation of the vagus nerve, which reduces heart rate and cardiac output. This reduces blood flow to the brain
376
resentation reflex anoxic seizures
Pale, falls to floor, rapid recovery
377
resentation breath holding spells
hold their breath during periods of crying to the point that they faint, turning blue and jerking of the limbs, recovers quickly
378
presentation west yndrome
4-8m, Characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by extension of the arms, lasts only 1-2 seconds but may be repeated up to 50 times. Progressive mental handicap. EEG shows hypsarrhythmia in two-thirds of infants CT demonstrates diffuse or localised brain disease sclerosis)
379
mx west syndrome
poor prognosis, Vigabatrin is now considered first-line therapy ACTH is also used
380
presntation absence seizures
4-8y, Duration few-30 secs; no warning, quick recovery; often many per day. EEG: 3Hz generalized, symmetrical
381
mx absenze seizures
Sodium valproate, ethosuximide
382
presentation lennox gastaut syndrome`
1-6yAtypical absences, falls, jerks 90% moderate-severe mental handicap. EEG: slow spike
383
lennox gastaut syndrome
?ketotgenic diet
384
presentation benign rolandic epilepsy
Paraesthesia (e.g. unilateral face), usually on waking up
385
presntation juvenile myoclonic epilspsy
teens, Infrequent generalized seizures, often in morning//following sleep deprivation, Daytime absences Sudden, shock like myoclonic seizure (these may develop before seizures
386
mx juveline myoclonic epilsosy
sodium valproate
387
presentation focal seizures
Frontal=jacksonian march. Temporal=déjà vu, lip smacking. Occipital=hallucinations. Parietal=odd sensations
388
mx focal seizures
valproate, levetiracetam
389
cause impetigo
Staphylococcal aureus or streptococcal skin infection
390
presentation impetigo
: erythematous macules (may progress to be vesicular/bullous) on face, neck or hands
391
mx impetigo
topical (fusidic acid, mupirocin) or systemic (flucloxacillin or clarithromycin)
392
kawasaki disease
an acute systemic vasculitis that affects young children
393
cause kawasaki disease
autoimmune-mediated (medium-sized blood vessel vasculitis
394
presentation kawasaki disease
fever > 5 days, conjunctivitis, polymorphous exanthem, fissuring of lips, strawberry tongue (Figure 4), diffuse erythema of oral and pharyngeal mucosa, periungual desquamation of fingers and toes, erythema of palms and soles Other features: arthralgia, septic meningitis, coronary artery aneurysm, vasculitis and other cardiac conditions (congestive heart failure, myocarditis, arrhythmias, mitral insufficiency, acute MI)
395
ix kawasaki disease
echocardiography (needs follow up 6 weeks later), inflammatory markers (ESR and CRP), alpha-1 antitrypsin
396
mx kawasaki disease
high dose intravenous immunoglobulin, aspirin
397
presentation erythema nodosum
red or violet subcutaneous nodules located pretibially
398
cause erythema nodosum
streptococcal pharyngitis, idiopathic, sarcoidosis, primary tuberculosis, inflammatory bowel disease, drug reactions
399
mx erythema nodosum
usually self-limiting or resolves with the treatment of the underlying disorder
400
cause measles
caused by a morbillivirus of the paramyxovirus family.
401
presentation measles
Appearance: maculopapular rash lasts 6-8 days Associated symptoms: fever, coryza, cough, non-purulent conjunctivitis, Koplik spots Epidemiology: young children with a seasonal peak in late winter/spring
402
mx measles
supportive, can give antibiotics to prevent secondary infection
403
cause eczema herpeticum
type I HSV co-infection with active atopic eczema
404
presentation eczema herpeticum
Primary infection: in pre-school children, presenting with a sore throat, pyrexia, stomatitis, vesicles or ulceration in the oral cavity and face Secondary infection: a cluster of itchy and painful blisters on the face and neck. New blisters have umbilication, old blisters crust and form sores
405
mx eczema herpeticum
oral acyclovir, systemic antibiotics for secondary bacterial infection
406
erythema multiforme
type IV hypersensitivity reaction that presents with a skin rash.
407
cause erythema multiforme
: HSV (90%), mycoplasma pneumonia, medications, autoimmune disease, sarcoidosis
408
resentation erythema multiforme
target-like lesions on the skin. Progresses to erosions of bullae which can involve oral, genital or mucosal areas.
409
mx erythema multiforme
usually self-limiting, aciclovir is used to treat HSV infections. Oral antihistamines and corticosteroids can be used to reduce pruritus.
410
cause glandular fever
Epstein-Barr virus
411
presntation glandular fever
fever, fatigue, sore throat, lymphadenopathy A maculopapular rash can occur due to being treated with penicillin whilst infected with EBV
412
cause hand, foot and mouth disease
coxsackievirus A16 and enterovirus A71
413
rsentation hand, foot and mouth disease
oral vesicles which rupture to form ulcers on tongue and buccal mucosa (enanthem). Macular, maculopapular or vesicular exanthema on hands, feet, buttocks, legs, arms.
414
mx hand foot and mouth disease
supportive, but children with complications may require hospitalization
415
cause fifth disease/erythrma infectiosum
parvovirus B19
416
presentation fitfh disease
begins with fever, coryza, headache, nausea and vomiting Appearance: malar rash with circumoral pallor (slapped cheek rash), then a lace-like rash on trunk and extremities follows
417
cause chicken pox
caused by the varicella-zoster virus (VZV).
418
presentation chicken pox
Appearance: starts on head and trunk, then spreads throughout the body. Red macules -> papules -> pustule-> crusting Epidemiology: between 1 and 6 years, seasonal peaks in winter and spring Associated symptoms: headache, anorexia, upper respiratory tract infection, fever, itching
419
mx chickenpox
antihistamines, paracetamol, acyclovir, VZIG for prophylaxis for contact at-risk individual
420
what is nappy rash
irritant contact dermatitis that occurs in the nappy area Secondary infection with Candida albicans or bacteria (Staphylococcal aureus or streptococcus) can occur.
421
resentation nappy rash
beefy red plaques, satellite papules, superficial pustules
422
mx nappy rash
frequent application of emollients, topical antifungal agent (e.g. nystatin, clotrimazole or ketoconazole)
423
ause scabies
an infestation of the skin by mite Sarcoptes scabiei resulting in a pruritic eruption
424
presentation scabies
small, erythematous papule with haemorrhagic crusts on fingers, elbows, axillary folds, thighs, genitalia, feet
425
mx scabies
hygiene advice, topical permethrin, oral ivermectin
426
cause tinea corporis
Trichophyton tubrum, Microsporum canis, Epidermophyton
427
resentation tinea corporis
pruritic, circular, erythematous scaly patch spreading centrifugally. Central clearing is seen.
428
mx tinea corporis
daily application of topical antifungals. Systemic therapy indicated in patients with failed topical therapy (terbinafine, fluconazole or itraconazole).
429
presntation tinea capitis
well-demarcated scaly lesion, can be “grey patch”, “black dot” and favus
430
mx tinea capitis
: systemic treatment with oral griseofulvin/terbinafine
431
cause molluscum contagiosum
poxvirus
432
presentation molluscum contagiosum
flesh-coloured, dome-shaped papules on the skin Associated symptoms: usually painless and sometimes pruritic
433
mxmolluscum contagiosum
self-resolving after approximately 18 months
434
cause scarlet fever
strep pyogenes
435
presentation scarlet ever
Develops within 48h of acute tonsillopharyngitis, strep throat Rash: scarlet-coloured, pruritic, skin like sandpaper, begins on neck and spreads, pastias lines, after a week the rash fades and desquamates
436
mx scarlet fever
10 oral penicllin V
437
presentation rubella
flu like, post auricular and suboccipital lymphadenopathy, forchheimer spots, maculopapular rash starting behind ears
438
presentation polio
Presentation: asymptomatic, flu like illness, less than 1% develop paralytic polio
439
presnetation diphtheriaa
thick grey-white coating at the back of your throat, temp, nausea, sore throat, headache,
440
mx diphtheria
Antitoxin, Antibiotics – erythromycin or IM penicillin to eradicate
441
presnetation TB
Starts with: Febrile illness, Erythema nodosum ,Phlyctenular conjunctivitis 6-9months: In most cases progressive healing of primary complex, effusion, cavitation, military spread
442
ix TB
Mantoux test, sputum sample=acid fast bacili
443
mx Tb
Isoniazid – SE: burning sensation in feet, Rifampicin – SE: orange/ red urine, Pyrazinamide – SE: joint pains, Ethambutol – SE: visual impairment
444
AIDS defnining illnesses
Lymphocytic interstitial pneumonitis, Pneumocystis carinii (PCP) infection, and Candida oesophagitis are ‘AIDS defining’ in an HIV-positive child, they signify progression to the AIDS phase.
445
diagnosing HIV
Specific antibody response (anti-HIV antibodies): infants infected perinatally have an immune response by 4-6months of age. However, an uninfected infant of a HIV-positive mother can test positive for anti-HIV antibodies for up to 12-18months
446
mx HIV
Prophylaxis against PCP, Avoidance of live oral polio vaccine and BCG, Antiretroviral therapy to suppress viral replication, Social, psychological, and family support
447
chicken pox isolation
until all spots crusted
448
isloation for impetigo
when crusted or 48h after starting abx
449
isolation for measles
4d from start of rash
450
islolation for mumps
5d from onset of swelling
451
isolation for scabies
until after first tx
452
isolation for scarlet fever
24h after starting abx
453
isolation for whooping cough
48h after starting abx
454
not requirijng isolation
conjunctivitis, glandular fever, hand foot and mouth, slapped cheek, head lice, threadowrms, tonsilits
455
vaccines at birth
BCG if high risk
456
vaccines at 8w
6 in 1 (diphtheria, whooping cough, polio, Hib, hep B, tetanus), oral rotavirus, Men B
457
vaccines at 12w
6 in 1 (diphtheria, whooping cough, polio, Hib, hep B, tetanus), oral rotavirus, PCV
458
vaccines at 16 w
6 in 1 (diphtheria, whooping cough, polio, Hib, hep B, tetanus), Men B
459
vaccines at 12-13m
Hib/Men C, MMR, PCV, Men B
460
vaccines 2-4y
4 in 1 (diphtheria, tetanus, whooping cough, polio), MMR
461
vaccines 12-13y
HPV
462
vaccines 13-18y
3 in 1 (tetanus, diphtheria, polio), Men ACWY
463
presentation McCune ALbright syndrome
Characterised by the following triad of clinical features: Skin: hyperpigmented (café au lait) macules, Polyostic fibrous dysplasia, Autonomous endocrine gland hyperfunction (Ovary most commonly affected, Precocious puberty, Hyperthyroidism, Cushing’s)
464
androgen insensitvity syndrome
spectrum of under-virilised phenotypes in the 46XY patient. (Patients who have a male karyotype but not clear male genitalia) X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.
465
features androgen insensitivity syndrome
'primary amennorhoea’, undescended testes causing groin swellings, breast development may occur as a result of conversion of testosterone to oestradiol
466
mx androgen insesnitivity syndrome
counselling - raise child as female, bilateral orchidectomy (increased risk of testicular cancer due to undescended testes), oestrogen therapy
467
categories of undesccended testes
Undescended testes are subdivided into the following: Palpable undescended testes: usually at the external inguinal ring. These testes can be bought down into the scrotum with an orchidopexy performed through an inguinal incision. Impalpable testes: intra-abdominal, inside the inguinal canal, or absent. There is risk of malignant degeneration in an intraabdominal testis, need a Laparoscopy
468
mx undescended testes
When to refer to surgeon: If still undescended at 3-6mths  Treatment: Orchidopexy at 6- 18 months of age.
469
presentation testicualr torsion
Sudden onset severe scrotal pain, often associated with nausea and vomiting, Tender testis, Overlying scrotal skin may be reddened and oedematous.
470
m testicular torsion
Immediate scrotal exploration is mandatory to salvage the testis, which should then be fixed to prevent recurrence.
471
obesity
Obesity implies increased central (abdominal) fat mass, and can be quantified using a number of clinical surrogate markers. BMI is the most convenient indicator of body fat mass. Overweight: BMI >91st centile, wt <98th centile, Obese: BMI >98th centile
472
RF for obesity
Parental/family history of obesity, Afro-Caribbean/Indian-Asian ethnic origins
473
ause of obesity
Causes: ‘idiopathic’ obesity, Genetic predisposition (energy conservation), Increasingly sedentary lifestyle (energy expenditure), Increasing consumption and availability of high energy foods Other underlying pathologies: Hypothyroidism, Cushing’s syndrome/disease, Growth hormone deficiency, Pseudohypoparathyroidism, Polycystic ovarian syndrome, Acquired hypothalamic injury e.g. CNS tumours, Prader-Willi syndrome, Bardet-Biedl syndrome, Myogenic causes: leptin deficiency (rare)
474
complications of obesity
Psychological: low self-esteem, depression. ENT/ respiratory: obstructive sleep apnoea, obesity-hypoventilation syndrome, pulmonary hypertension. Orthopaedic: bowing of legs, slipped femoral epiphysis, osteoarthritis. Metabolic: impaired glucose tolerance/type 2 diabetes, hypertension, dyslipidaemia, PCOS. Hepatic: non-alcoholic steatohepatitis
475
causes congenital hypothyeoidism
Thyroid dysgenesis: usually sporadic, resulting in thyroid aplasia/hypoplasia, ectopic thyroid (lingual/ sublingual). Thyroid hormone biosynthetic defect: hereditary e.g. Pendred’s syndrome. Iodine deficiency.. Congenital TSH deficiency 
476
features congenital hypothyroidism
Umbilical hernia, Prolonged jaundice, Constipation, Hypotonia, Hoarse cry, Poor feeding, Excessive sleepiness, Dry skin, Coarse faecies, Delayed neurodevelopment Without early hormone replacement therapy, complications sequelae may occur: Neurodevelopmental delay and mental retardation, Poor motor coordination, Hypotonia, Ataxia, Poor growth and short stature 
477
mx congenital hypothyrodism
levothyrocine
478
congenital adrenal hyperplasia
A rare family of disorders characterised by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Deficiency of the 21alpha-hydroxylase enzyme is the most common form, accounting for over 90% of cases.
479
presentation congenital adrenal hyperplasia
Classic CAH: includes a severe ‘salt wasting’ form that usually presents with acute adrenal crisis in early infancy (usually males at 7-10 days of life) and a ‘simple virilising’ form in which patients demonstrate masculinisation of the external genitalia (females at birth) or signs of virilisation in early life in males. Non classic (late onset): Presents in females with signs and symptoms of mild androgen excess at or around the time of puberty.
480
ix congenital adrenaal hyperplasia
Elevated plasma 17-hydroxyprogesterone levels, Elevated plasma 21-deoxycortisol levels, Increased urinary adrenocorticosteroid metabolites
481
mx congenital adrenal hyperplasi
glucocorticoid replacement therapy – hydrocortisone. Salt-wasting form – mineralocorticoid therapy – fludrocortisone. Resistance to mineralocorticoid therapy – sodium chloride therapy. Urogenital surgery – performed in infancy in females with significant virilisation of the external genitalia.  
482
precocious ouverty classification
hypothalamic-gonadal axis, FSH and LH raised. Gonadotropin independent=due to excess sex hormones, FSH and LH low
483
causes precocious puberty
Males: uncommon and usually organic cause. Bilateral testicular enlargement=gonadotropin release from intracranial lesion, unilateral testicular enlargement=testicular tumour, small testes=adrenal cause Females: usually idiopathic or familial
484
pathophysiology T1DM
chronic autoimmune condition. Immune tolerance is broken and antibodies against specific beta-cell autoantigens are generated (e.g. anti-islet cell, anti-insulin, anti-GluAD). T-cell activation leads to beta-cell inflammation (‘insulitis’) and to subsequent cell loss through apoptosis
485
presnetation T1DM
: Weight loss, Polyuria, Polydipsia, Nocturia/nocturnal enuresis, Candida infection e.g. oral thrush
486
diagnosis T1DM
Random >11.1mmol/L in a symptomatic child (x2 if asymptomatic) Fasting >7.0mmol/L x2. Diabetes-related autoantibodies: islet cell antibody, anti-insulin antibody, anti-GluAD antibody, anti-IA-. OGTT peak >11.1 (2 hours after 75g oral glucose
487
mx T1DM
: Education of child and family about diabetes, Insulin therapy, Screening for development of associated illness, Screening for diabetes-related microvascular complication Blood glucose monitoring: A minimal testing frequency of 4 times per day should be encouraged
488
presentation hypoglycaemia
Symptoms develop when blood glucose <3.5mmol/L. The frequency of hypoglycaemia is higher with more intensive insulin regimens and in young children. ymptoms and signs include: Feeling of hunger, Sweatiness , Feeling faint/dizzy, ‘wobbly feeling’, Irritability/confusion/misbehaviour, Pallor
489
mx hypoglycaemia
Acute episodes of mild to moderate symptomatic hypoglycaemia can be managed with oral glucose (glucose tablets or sugary drink). Oral glucose gels applied to the buccal mucosa can be used in the child who is unwilling or unable to cooperate to eat. Severe hypoglycaemia can be managed in the home with an IM injection of glucagon (1.0mg). This is available as a specific injection kit
490
pathophysiology DKA
Caused by a decrease in effective circulating insulin associated with elevations in counter-regulatory hormones. This leads to increased glucose production by the liver and kidney and impaired peripheral glucose utilisation with resultant hyperglycaemia and hyperosmolality. Increased lipolysis, with ketone body production causes ketonemia and metabolic acidosis.
491
presentation DKA
Hyperglycaemia and acidosis result in osmotic diuresis, dehydration, and obligate loss of electrolytes. Ketoacid accumulation also induces an ileus, resulting in nausea and vomiting and an exacerbation of the dehydration.
492
mx DKA
Fluid, Insulin - one hour after fluid (reduce risk of cerebral oedema), Monitor glucose hourly, Monitor electrolytes, especially K+ ketones and ketones - 2 hourly, Hourly neuro observations Watch out for: Cerebral oedema, Shock - extremely dehydration, Hypokalaemia, Aspiration - if DKA patient is vomiting make sure you put NG tube down and NBM, Thrombus
493
Maturity onset diabetes of young (MODY
A clinical heterogenous group of disorders characterised by an autosomal dominant mode of inheritance, onset usually before the age of 25yrs, and non-ketotic diabetes at presentation. The condition is due a primary defect in beta-cell function and insulin seceretion.
494
guthrie screening test
9 things: CF, SC disease, congenital hypothyroidism, phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), homocystinuria (pyridoxine unresponsive) (HCU)
495
features suggesting dehydration
Appears unwell/deteriorating*, Altered responsiveness (irritable, lethargic)*, Sunken eyes*, Tachycardia*, Tachypnoea*, Reduced skin turgor*, Dry mucous membranes (not reliable if the child is mouth breathing or just after a drink), Decreased urine output
496
features suggesting shock
Decreased level of consciousness, Pale or mottled skin, Cold extremities, Pronounced tachycardia, Pronounced tachypnoea, Weak peripheral pulses, Prolonged capillary refill time, Hypotension
497
maintenance fluids for child >28d
: isotonic crystalloids + 5% glucose (e.g. 0.9% sodium chloride + 5% glucose). 100 ml/kg/day for the first 10kg of weight, 50 ml/kg/day for the next 10kg of weight, 20 ml/kg/day for weight over 20kg
498
maintenance fluids for neonate
The choice of fluid depends on the clinical situation: No critical illness=10% dextrose +/- additives, Critical illness (e.g. infantile respiratory distress syndrome, meconium aspiration)=seek expert advice (use fluids with no/minimal sodium initially). Birth to day 1: 50-60 ml/kg/day, Day 2: 70-80 mL/kg/day, Day 3: 80-100 mL/kg/day, Day 4: 100-120 mL/kg/day, Days 5-28: 120-150 mL/kg/day
499
eplacement fluids
Use isotonic crystalloid that contains sodium with added glucose (e.g. 0.9% sodium chloride + 5% glucose). If there are ongoing losses (e.g. diarrhoea, vomiting) supplement with potassium (e.g. 10 mmol/L) Calculate percentage dehydration: (well wt-current wt)/well wt x100 Fluid deficit (mL) = % dehydration x weight (kg) x 10 Total fluid requirement (mL) = maintenance fluids (mL) + fluid deficit (mL)
500
resuscitation fluids
Glucose-free balanced crystalloids (e.g. Hartmann’s solution) are recommended as initial resuscitation fluids. The standard fluid for resuscitation is 0.9% sodium chloride with no additives via intravenous (IV) or intraosseous (IO) access (if IV access is not possible) in a standard bolus of 10 mL/kg over <10 minutes.1 Exceptions to this rule in which smaller boluses may need to be used: Neonatal period (<28 days of age), Diabetic ketoacidosis, Septic shock, Trauma, Cardiac pathology (e.g. heart failure) After the bolus has been administered, the volume status should be re-assessed (e.g. heart rate, respiratory rate, capillary refill time). If the patient is still shocked urgent senior advice should be sought. Maintenance fluids after resuscitation: There is no need to subtract the resuscitation boluses from the total 24-hour fluid requirements. For a shocked child, we assume 10% dehydration based on body weight.
501
anaemia
Hb level below the normal range. The normal range varies with age, so anaemia can be defined as: Neonate=Hb less than 140g/L, 1 -12 months=Hb less than 100g/L, 1-12 years=Hb less than 110g/L
502
auses microcytic anaemia
low MCV): Iron deficiency anaemia, B-thalassaemia trait (usually children of Asian/ Arabic / Med origin), Anaemia of chronic disease e.g. CKD
503
RF iron deficiency anaemia
Preterm, LBW infants, multiple births, Adolescent females (growth spurt and menstruation), Low iron-containing diet due to poverty, fad diets, or strict vegans
504
presentation iron deficiency anaemia
Most children asymptomatic until the Hb drops below 60g/L -70g/L., As anaemia worsens – children tire easily, young infants feed slower, Ask about blood loss, Ask about signs/symptoms relating to malabsorption, May appear pale – pallor unreliable sign unless pallor of the conjunctivae, tongue or palmar creases, ‘pica’ – inappropriate eating of non-food materials e.g. soil: evidence ID anaemia may be detrimental to behaviour and intellectual function.
505
mx iron deficiency anaemia
Dietary advice and supplementation with oral iron, Iron supplements should be continued until Hb is normal + min. 3 months to replenish iron stores.
506
causes vit B12 deficeincy
Vegans/ vegetarians are at risk. Alternatively, can have defective absorption due to intrinsic factor deficiency, defective B12 transport, intestinal disease causing malabsorption (ileal resection, IBD, coeliac disease), or bacterial over-growth in small bowel.
507
causes folate deficiency
Malnutrition (marasmus, kwashiorkor), goat’s milk feeding. Malabsorption, e.g. coeliac disease, IBD. Increased requirements e.g. rapid growth, chronic haemolytic anaemias. Drugs e.g. phenytoin, valproate, trimethoprim, nitrofurantoin. Disorders of folate metabolism
508
presentation anaemia due to B12/folate defieincy
Insidious onset of pallor, fatigue, anorexia, glossitis, developmental delay and hypotonia, In severe cases, subacute combined degeneration of cord (rare in children): paraesthesia of hands/feet, ataxic gait, loss of vibration sense
509
mx B12/folate defieicny
Improve diet, B12 deficiency: IM hydroxocobalamin, Folate deficiency: daily oral folic acid
510
membrnaopathies
Autosomal dominant conditions which result in an abnormally shaped red cell. Deficiency of red cell membrane proteins caused by a variety of genetic lesions
511
Hereditary spherocytosis
Autosomal dominant , Shortage of red blood cells , Less deformable spherical RBCs, so trapped in spleen -> extravascular haemolysis. Signs: Splenomegaly, Jaundice
512
Hereditary elliptocytosis
Autosomal dominant, Abnormally large number of the erythrocytes are elliptical. Mostly asymptomatic
513
Glucose-6-phosphate dehydrogenase (G6PD) deficiency:
X-linked recessive, Most are asymptomatic, Lack of enzyme that maintains protective protein against oxidant injury. In attacks – rapid anaemia and jaundice. Precipitants – drugs, exposure to broad beans, illness, henna, Drugs = primaquine, sulphonamides, quinolones, dapsone, nitrofurantoin. Tests=Enzyme assay, Film
514
Pyruvate kinase deficienc
Autosomal recessive, Decreased ATP production causes decreased RBC survival. Clinical features=Variable chronic haemolysis, Prone to aplastic crisis in Parvovirus B19 infection.
515
B thalassaemia types
Characterised by a severe reduction in the production of B-globin. Disease severity depends on the amount of residual HbA and HbF production. Beta-Thalassaemia major – most severe form. HbA cannot be produced. Beta-Thalassaemia minor - A carrier state that is usually asymptomatic. Beta-Thalassaemia intermedia – milder and variable severity
516
presentation B thalassaemia
Severe anaemia which is transfusion dependent 3-6months, Jaundice , Faltering growth/ growth failure, Failure to feed, Extramedullary haemopoiesis – develop hepatosplenomegaly and bone marrow expansion (leads to maxillary overgrowth and skull bossing).
517
mx B thalassaemia
regular blood transfusions, Iron chelation – SC desferrioxamine or an iron chelator drug e.g. deferasirox, Bone marrow transplant – only cure.
518
alpha thalassaemia types
If all 4 genes are deleted, death is in utero – Bart’s hydrops. If 3 genes are deleted (--/-), HbH disease occurs – moderate anaemia and features of haemolysis – hepatosplenomegaly, leg ulcers, jaundice. If 2 genes are deleted (--/) – asymptomatic carrier state – decreased MCV. If one gene is deleted – normal clinical state. 
519
sickle cell anaemia forms
Sickle cell anaemia (HbSS) – homozygous HbS = mutation in both beta-globin genes, HbSC disease (HbSC) – HbS and HbC = no normal (HbA) beta-globin genes, Sickle beta-thalassaemia – HbS and beta-thalassaemia , Carriers (sickle trait) – HbS and one normal beta-globin gene.
520
pathogenessi SC anaemia
deform the red cells into a sickle shape. These have a reduced lifespan and may be trapped in microcirculation resulting in vaso-occlusion = ischaemia in an organ or bone.
521
features SC anaemia
Asymptomatic, Anaemia + clinically detectable jaundice, Increased susceptibility to infection, Painful (vaso-occlusive) crises – occlusions causing pain with varying frequency and severity, Priapism (persistent and painful erection of the penis), Splenomegaly
522
long term problems in SC anaemia
Short stature and delayed puberty, Stroke and cognitive problems, Adenotonsillar hypertrophy, Cardiac enlargement, Heart failure, Renal dysfunction, Pigment gallstones, Leg ulcers, Psychosocial problems – education and behaviour
523
mx acute SC crises
Analgesia, Antibiotics: broad spectrum cephalosporin, after blood culture if fever >38°C, Oxygen, Blood: transfusion for aplastic crisis, sequestration or anaemia.
524
mx SC
vaccinations and oral penicillin should be given daily throughout childhood. OD oral folic acid. Avoid exposure to cold, dehydration, excessive exercise, undue stress, hypoxia (precipitating factors). Bone marrow transplant is the only cure.Treatment of chronic problems – hydroxycarbamide, which increases HbF production and helps protect against further crise
525
Rh disease
occurs when a maternal antibody response is mounted against foetal red cells. These immunoglobulin (IgG) antibodies cross the placenta and cause foetal red blood cell destruction. The ensuing anaemia, if severe, precipitates foetal hydrops, which is often referred to as immune hydrops.
526
mx Rh diseease
Close antenatal supervision +/- intrauterine blood transfusion. If treatment required, oral folic acid 250mcg/kg/day for 6 months
527
causes aplastic anaemia
Autoimmune, Drugs, Viruses – parvovirus, hepatitis, Irradiation, Inherited – Fanconi anaemia
528
fanconi anaemia
Autosomal recessive in FANC genes. This rare condition leads to progressive bone marrow failure affecting all 3 haemopoietic cell precursors
529
presentation fanconi anaemia
4-10yrs, bruising and purpura or insidious onset anaemia. Congenital abnormalities – short stature, abnormal radii and thumbs, renal malformations, microphthalmia, pigmented skin lesions
530
mx fanconi anaaemia
Supportive e.g. RBC transfusion, hearing aids, orthopaedic. Immunosuppression with corticosteroids and androgens (oxymetholone). Bone marrow transplantation  
531
haemophilia
Haemophilia A = FVIII deficiency. Haemophilia B = FIX deficiency.
532
presentation haemophilia
Recurrent spontaneous bleeding into joints and muscles – can lead to crippling arthritis. Intracranial bleeds – usually follows minor head trauma.
533
mx haemophilia
Haemophilia A Management: Avoid NSAIDs and IM injections (including vitamin K at birth). Prophylaxis: alternate day IV FVIII concentrates to prevent spontaneous bleeds. Desmopressin raises factor VIII levels Haemophilia B: Treat with recombinant factor IX.
534
von willebrnad disease
An inherited bleeding tendency caused by a quantitative or qualitative deficiency of vWF. Inheritance is usually autosomal dominant. Type 1 is most common and usually mild.
535
presentation von willebrand disease
Bruising, Excessive, prolonged bleeding after surgery, Mucosal bleeding such as epistaxis and menorrhagia.
536
diagnosis von willebrand disease
: APTT is usually increased, vWF antigen levels reduced and function decreased
537
mx von willebrna ddisease
Type 1 – usually treated with DDAVP, which causes secretion of FVIII and vWF into plasma. More severe types – plasma-derived FVIII concentrate.
538
immune thrombocytopeniea
caused by IgG autoimmune antibody to platelet cell membrane antigens leading to platelet destruction in the spleen and liver.
539
ntation ITP
Most present between 2-5yrs, but can occur at any age, Many have preceding viral infection e.g. URTI, Bruising, petechiae, purpura. Mucosal bleeding e.g. bleeding from gums, Major haemorrhage uncommon, Physical examination otherwise usually normal – no splenomegaly
540
mx ITP
only if symptoms are severe. oral prednisolone, IV anti-D or IV immunoglobulin. These all have significant side effects
541
chronic ITP
platelet count remains low after 6mths = chronic. Treatment: mainly supportive. Children with chronic persistent bleeding are rare and require specialist car
542
classification of CNS tumours
nfratentorial tumours (>50%): present with raised ICP, headaches and vomiting, and cerebellar ataxia. Supratentorial tumours: present with raised ICP, focal neurology, hypothalamic/pituitary dysfunction, and visual impairment. Primary spinal tumours (rare): differential diagnosis includes astrocytomas and ependymomas.
543
sentation brain tumour
cord compression. CNS metastases: of extracranial tumours (Rare)
544
mx brain tumur
Initial management: Diagnostic imaging = CT and MRI Raised intracranial pressure: high dose steroids (usually dexamethasone), CSF drainage: initial surgery may involve CSF diversion only, biopsy, or complete resection, depending on location and likely diagnosis. Treatment: excision and craniospinal radiotherapy. Additional chemotherapy
545
craniopharyngioma
Slow-growing midline epithelial tumours in the suprasellar area from ‘Rathke’s pouch’
546
presentation retinoblastoma
absent or abnormal light reflex (leukocoria), squint, or visual deterioration Sporadic or familial (40%) forms that are unilateral or bilateral (30%) on presentation Peak incidence: unilateral disease, 2-3yrs; bilateral disease, 0-12 months
547
mx retinoblastoma
surgery, chemotherapy, and focal therapy
548
wilms tumour
embryonal tumour of the kidney
549
presentation wilms tumour
Mostly as a visible or palpable abdominal mass. Usually painless. Haematuria and hypertension may also be seen
550
mx wilms tumour
Surgical excision required, Chemotherapy is used for all tumours.
551
hepatoblastoma mx
Chemotherapy including platinum drugs and anthracyclines for HBL. Good surgical result is critical for long-term survival.  
552
neuroblastoma
A malignant embryonal tumour derived from neural crest tissue with a wide spectrum of behaviour
553
presetnation neuroblastoma
Non-specific and variable. Palpable mass (may be painless), Compression of nerves (e.g. Horner’s, spinal cord), airway, veins, bowel, Bone: pain and/or limp, Lymphadenopathy and signs of pancytopenia , Sweating, pallor, water diarrhoea, and hypertension
554
ix neuroblastoma
: Urine catecholamine (VMA or homovanillic acid (HVA)) to creatinine ratio,131I-MIBG uptake scan: usually +ve
555
mx neuroblastoma
Biological factors, such as MYCN amplification and 17q gain. Completely resected localised neuroblastoma may need no further treatment
556
osteosarcoma presetnation
Localised pain and swelling, Pathological fracture, Rarely – erythema. Most affect the long bones around the knee and humorous. The metaphysis is a more common site than mid-shift..
557
mx osteosarcoma
Chemotherapy -> surgery -> chemotherapy.  
558
presentation ewings sarcoma
Localised pain and swelling, Sometimes pathological fracture, Diaphysis of long bones is more commonly affected than metaphysis. The axial skeleton is involved more often than in OS with the pelvis the most common site
559
mx ewingd ssarcoma
Chemotherapy -> surgery -> chemotherapy.
560
presentation rhabdomyosarcoma
Mass, pain and obstruction of: Bladder, Pelvis, Nasopharynx, Parameningeal, Paratestis, Extremity, Orbit, Intrathoracic. Lymph node involvement is common
561
mx rhabdomyosarcoma
Chemotherapy (6-9 courses) with ifosfamide or cyclophosphamide, actinomycin, vincristine, anthracyclines. Surgery is reserved for accessible sites (paratesticular, peripheral) after 3-6 courses of chemotherapy). Radiotherapy after surgery for residual tumour and alveolar histology.  
562
ALL
This is the most common malignancy in childhood. It arises from malignant proliferation of ‘pre-B’ (common ALL) or T-cell lymphoid precursors
563
presentation ALL
Typically with a short history (days or weeks), and with symptoms and signs reflecting pancytopenia, bone marrow expansion, and lymphadenopathy. Petechiae, Bruising, Pallor, Tiredness, Bone/joint pain/swelling , Limp, Lymphadenopathy, Airway obstruction, Pleural effusion
564
ix ALL
Bone marrow, CSF for cytospin, Characteristic blast cells on blood film and bone marrow. WCC usually high, CXR and CT scan to look for mediastinal and abdominal lymphadenopathy, Lumbar puncture should be performed to look for CNS involvement
565
ALL
Induction (4wks), Consolidation CNS-directed therapy, Maintenance (2y for F, 3 M). Involves chemo and steroids
566
poor prognostic factors ALL
Male gender, Age <2yrs or >10yrs, High WCC at diagnosis, Philadelphia chromosome -t(9;22), MLL gene rearrangements (e.g. t(4;11) etc. poor response to induction and failure to remit by day 28.
567
AML
from malignant proliferation of myeloid cell precursors
568
presentation AML
Symptoms and signs of bone marrow replacement (Pallor, Tiredness, Breathlessness, Frequent infections, Having a high temp, sweating a lot) Gum hypertrophy, Splenomegaly, Lymphadenopathy less prominent than ALL, Intrathoracic extramedullary disease less common than ALL, Solid deposits (chloroma) occasionally seen.
569
ix AML
WCC is often increased, Bone marrow biopsy – AML differentiated from ALL by Auer rods.Immunophenotyping
570
genetic conditions predisposing to AML
Fanconi syndrome, Blood syndrome, Ataxia telangiectasia, Kostmann’s syndrome, Diamond-Blackfan syndrome, Klinefelter’s, Turner’s syndrome, Neurofibromatosis, Incontinentia pigmenti
571
mx AML
4 courses intensive myeloablative chemotherapy. Supportive measures: Blood/platelet transfusion, IV fluids, Hickman line for IV access. Bone marrow transplant
572
CML
Classically associated with Philadelphia chromosome +ve disease t(9;22). Rare
573
lymphoma
A malignant growth of white blood cells – predominantly the lymph nodes but also found in the blood, bone marrow, liver and spleen. M > F
574
ix hodgkins lumphoma
Histology shows characteristic cells with mirror-image nuclei are found, called Reed-Sternberg. Lymph node excision biopsy if possible. CXR, CT/PET of neck, chest, abdo and pelvis
575
presentation hodgkins lymohoma
Enlarged, non-tender, rubbery superficial lymph nodes. Constitutional upset – fever, weight loss, night sweats, pruritus, lethargy. Alcohol-induced lymph pain, Lymphadenopathy (abnormal lymph nodes, Cachexia (weakness and wasting of the body due to severe chronic illness, Anaemia, Spleno/hepatomegaly
576
staging hodgkins lymphoma
Staging – Ann-Arbor I. Confined to single lymph node region II. Involvement of two or more nodal areas on the same side of the diaphragm III. Involvement of nodes on both sides of the diaphragm IVSpread beyond the lymph nodes on both sides of the diaphragm  Each stage is either ‘A’ (no systemic symptoms) or ‘B’ (presence of B symptoms) – weight loss, unexplained fever, night sweats. B indicates worse disease.
577
mx hodgkins lymphoma
chemotherapy. Stages IA-IIA: radiotherapy + short courses of chemotherapy. Stages IIA-IVB (with >3 areas involved): longer courses of chemotherapy
578
causes NHL
: Immunodeficiency-Drugs, HIV . Infection -Infection from EBV transform cells, Helicobacter pylori
579
classifciation NHL
: Lymphoblastic , Mature B cell (Burkitt or Burkitt-like), Large cell lymphoma NHL staging – St Jude system
580
staging NHL
NHL staging – St Jude system Stage I: single site or nodal area (not abdomen or mediastinum) Stage II: regional nodes, abdominal disease Stage III: disease on both sides of the diaphragm Stage IV: bone marrow or CNS disease
581
presentation NHL
Superficial lymphadenopathy , Extra-nodal disease, Gut - Gastric MALT (caused by H.pylori)=Dyspepsia , Weight loss, Dysphagia . Small bowel lymphomas=Diarrhoea, Vomiting , Abdominal pain , Oropharynx = Waldeyer’s ring lymphoma causes obstructed breathing. Systemic features=Fever, Night sweats , Weight loss, Pancytopenia from marrow involvement (anaemia, bleeding)
582
mx NHL
Low-grade lymphomas (indolent)=often incurable, radio, chemo, rituximab. High-grade lymphomas (aggressive)= ‘R-CHOP’ chemotherapy regimen: rituximab, cyclophosphamide, hydroxydaunorubicin, oncovin, prednisolone.  
583
karyotype klinefelters
47 XXY
584
presentation klinefelters
hypergonadotrophic hypogonadism with decreased testosterone production. Tall and may develop feminine body build. Testes are small and men are generally infertile (azoospermia). Gynaecomastia develops at puberty, Reduced secondary sexual hair
585
problems associated with klinefelters
Type 2 diabetes, osteoporosis, Cardiovascular disease and blood clots, AI disorders such as lupus, hypothyroidism, Anxiety, learning difficulties and depression, Male breast cancer 
586
mx klinefelters
Testosterone replacement therapy once puberty starts
587
karyotype for turners syndrome
45 XO
588
presentation turners syndrome
At birth oedema of dorsa of hands, feet and loose skinfolds at the nape of the neck, Webbing of neck, low posterior hairline, small mandible, prominent ears, epicanthal folds, high ached palate, broad chest, cubitus valgus, hyperconvex fingernails, Hypergonadotrophic hypogonadism, streak gonads, Recurrent otitis media, Ptosis, Low set ears, Wide carrying angle at elbows, Widely spaced hypoplastic nipples, Low posterior hairline, Excessive pigmented naevi, Hypothyroidism, Puffiness of the hands and feet is a common neonatal finding
589
provlems asssociated with turners
CHD (esp. CoA and VSD) Bicuspid aortic valve, coarctation of the aorta, Structural renal abnormalities e.g. horseshoe kidney, Hypoplastic ovaries (1° amenorrhoea and infertility)
590
mx turners syndrome
Daily SC injections of high dose recombinant human growth hormone, oestrogen
591
karyotype down syndrome
Trisomy 21 = due to non-disjunction during maternal oogenesis, Robertsonian translocation, mosaicism
592
presentation down syndrome
Generalised hypotonia and marked head lag – FLOPPY BABY, small low-set ears, up-slanting eyes, prominent epicanthic folds, a flat facial profile , protruding tongue, Brushfield’s spots apparent in the iris (whitish spots), Flat occiput (brachycephaly) and short neck, Short broad hands (brachydactyly), short incurved little fingers (clinodactyly), single transverse palmar crease, and a wide ‘sandal’ gap between the first and second toes, Mildly short stature, Intellectual impairment
593
problems associated with down syndrome
Congenital heart disease – ASD, AVSD, VSD, ToF, GI problems – duodenal atresia, anal atresia, HSD, Increased risk of infection, Developmental hip dysplasia, Eczema, Deafness: both sensorineural and conductive, Cataracts, Leukaemia, Acquired hypothyroidism
594
mx down syndrome
Routinely test TFT annually, Refer for audiology and ophthalmic assessment 1-2 yearly, monitor for alzhemiers
595
karyotype edwards syndrome
trisomy 18
596
presentation edwards syndrome
Babies are usually SGA, Congenital heart disease – VSD +/- valve dysplasia, Short sternum, Overriding fingers, ‘rocker-bottom’ feet Median life expectancy is 4 days
597
karyotype pataues syndrome
trisomy 13
598
presentation pataus syndrome
Holoprosencephaly, SGA, Microcephalic, Microphthalmia, Cleft lip/palate, Congenital heart disease e.g. ASD or VSD, Renal anomalies e.g. fused kidneys, Postaxial polydactyly Majority die within first yr
599
heritance kallmans
X-linked recessive
600
presentation kallmans
hypogonadotropic hypogonadism: 'Delayed puberty’, cryptorchidism, Anosmia, Sex hormone levels are low, LH, FSH levels are inappropriately low/normal, normal or above average height
601
heritance fragil X syndrome
Full expansion CGG repeats, more M
602
eatures fragil X
A large forehead or ears, with a prominent jaw , An elongated face, Protruding ears, forehead, and chin, Loose or flexible joints, Flat feet, Developmental delays, stutter intellectual and learning disabilities,
603
oblems associated with fragile X
ASD, Impulsiveness, Attention difficulties, hyperactivity, Mitral valve prolapse
604
inheritance angelmans syndrome
impaired or absent function of the maternally imprinted UBE3A gene on chromosome 15q11.13
605
atures angelmans
Unprovoked laughing/clapping, microcephaly, seizures, ataxia, mental retardation, fascination with water
606
heritance praderwilli
disruption to the paternally derived imprinted domain on 15q11-13
607
presentation praderwilli
Floppy baby, rapid wt gain 1-6y, An excessive appetite and overeating, Restricted growth (children are much shorter than average), hypotonia, Learning difficulties, Lack of sexual development, Behavioural problems,
608
problems assocaited with prader willi
Type 2 diabetes, Heart failure, Respiratory difficulties
609
inheritance noonans
autosomal dominant
610
presentation noonans
Short stature, hypertelorism, ptosis, ear abnormalities, broad neck, Congenital heart disease (esp. pulmonary stenosis), Cardiomyopathy , pectus carinatum superiorly and pectus excavatum inferiorly, Mild developmental delay, Undescended testes
611
nheritance williams sndrome
microdeletion on chromosome 7q11 – elastin gene
612
preesntation wiiliams syndrome
cardiac defect – supravalvular aortic stenosis, Peri-orbital features, Full cheeks, Anteverted nares, Wide mouth with full lips, Small widely spaced teeth, mild mental retardation, over-friendliness, short attention span, anxiety Some infants may have hypercalcaemia
613
oblems associated with williams syndrome
Avoid taking extra calcium and vitamin D - Calcium deposits can cause kidney problems and narrowed blood vessels can cause heart failure.  
614
nheritance marfan syndrome
variable austosomal dominant
615
presentation marfans syndrome
Ghent criteria (no family history) = 2 major and 1 minor: Major criteria can include: An enlarged aorta , A tear in the aorta, Dislocation of the lens of the eye, A family history, At least 4 skeletal problems, such as flat feet or a curved spine (scoliosis), Enlargement of the lining that surrounds part of the spinal cord (dural ectasia)  Minor criteria can include: Short-sightedness (myopia), Unexplained stretch marks , Loose joints, A long, thin face , A high, arched palate
616
causes of limp 0-5y
discitis, DDH, Transient synovitis, Septic arthritis, osteomyelitis, septic arthritis
617
causes oflimp 5-10y
discitis, Transient synovitis, Septic arthritis, Perthes’ disease, osteomyelitis, Discoid meniscus, septic arthritis, Kohler’s disease, Freiberg’s disease, Tarsal coalition, Verruca
618
causes of limp 10-15y
discitis, Slipped upper femoral epiphysis, Septic arthritis, osteomyelitis, Osgood-Schlatter’s disease, Osteochondritis dessicans, Patellofemoral pain syndrome, Chondromalacia patella, Sever’s disease, Tarsal coalition, Verruca, Ingrowing toenail
619
causes septic arthritis
75% are in the lower limb. Knee > hip > ankle. 25% upper limb.. <12mths: Staph. Aureus, group B streptococcus, gram -ve bacilli, Candida albicans. 1-5yrs: Staph aureus, haemophilus influenza, Group A strep, Strep. Pneumoniae, Neisseria gonorrhoeae (child abuse). 5-12yrs: Staph aureus, Group A strep. 12-18yrs: Staph aureus, Neisseria gonorrhoeae (sexually active)
620
preseentation septic arthritis
Decreased range of movements or pseudo paralysis, Pain on passive motion, Hot, warm, swollen joints, Inability to weight bear, Systemic symptoms of infection
621
ix septic arthritis
blood cultures, X-ray of joint= joint space narrowing and erosive changes = later signs, Joint aspiration 
622
mx septic arthritis
IV abx, after aspirate taken, for up to 3wks, followed by oral abx for 4-6wks. irrigation and debridement of affected joint, splint in position of function 
623
cause osteomyelitis
Staphylococcus aureus is most common in children in all age groups. Neonates: group B streptococcus and Gram -ve enteric bacilli, <2yrs: Haemophilus influenzae (rare), >2yrs: Gram +ve cocci, Pseudomonas aeruginosia. Adolescents: Neisseria gonorrhoea
624
presentation osteomyelitis
Pain, Limping , Refusal to walk/weight bear, Fever, Malaise , Flu-like symptoms, Overlying bone may be tender, with/without swelling. Long bones principally affected: Tibia > femur > humerus
625
ix osteomyeliti
blood cultures, XR, MRI, aspiration
626
mx osteomyelitis
IV abx for a min. of 2wks, followed by oral abx for 4wks. Usually flucloxacillin. Drainage and debridement may be needed
627
RF DDH
: Family history, Female, Racial predilection, Breech presentation
628
screening for DDH
Ortolani’s test=If hip is dislocation, gently elevate and abduct the dislocated hip to reduce it (clunk of reduction), Barlow’s test= If hip isn’t dislocated, can it be – gently adduct and depress femur – vulnerable hip dislocates.
629
mx DDH
: Age <6 months: Pavlik harness (maintain hip in flexed position with some hip abduction), Age 6-18 months: manipulation and closed reduction + hip spica plaster cast
630
complications DDH
redislocation, residual acetabular dysplasia; avascular necrosis, early osteoarthritis changes
631
perthes disease
avascular necrosis occurs.
632
RF perthes disease
Boys, 4-10 years, Family history, Low birth weight, Delayed skeletal maturity
633
sx perthes disease
Mild/intermittent anterior thigh/groin/referred knee pain with limp, Classical ‘painless limp’, decreased hip ROM
634
ix perthes disease
XR, Technetium 99 bone scan
635
mx perthes disease
T<6 years: Supportive (NSAIDs, physiotherapy) surgical >6y
636
disease associated with slipped upper femoral epiphysis (slipped capital femoral epiphysis)
Associated with: hypothyroidism, hypogonadism, renal osteodystrophy, retroversion of femoral neck or vertical growth plate, Down syndrome, radiotherapy/ chemotherapy
637
sx slipped upper femoral epiphysis
Groin, thigh, or knee pain, Antalgic gait, Limited hip flexion and abduction, flexion into external rotation and thigh atrophy, obese, 10-15y
638
ix slipped upper femoral epiphysis
XR AP and lateral (typically frog-leg) views are diagnostic 
639
mx slipped upper frmoral epiphysis
pin, internal fixation
640
genu valgum
knock knees
641
causes genu valgum
Causes: physiological, rickets, congenital dislocation of patella, myelodysplasia
642
ix genu valgum
AP and lateral full-length X-rays
643
mx genu valgum
none, surgery if severe. Usually resolves 
644
genu varum
bowed knees
645
causes genu varum
physiological (curled up in utero), osteogenesis imperfecta, vitamin D/calcium deficiency, metaphyseal dysplasia, achondroplasia, physeal injury, osteochondromas
646
ix genu varum
weight bearing X-ray AP and lateral lower leg views
647
mx genu varum
: if severe – treat by guided growth using staples or eight plates, usually resolves
648
osteochondroses
a spectrum of conditions primarily affecting the epiphyses, but may also involve cartilage and bone. Not always due to inflammation, and may be due to trauma or over-usage, vascular irregularities or may be a normal variation.
649
osgood slatters disease
Tibial tubercle traction apophysitis
650
sx osgood slatters
Boys (age 12-14yrs) > girls (aged 10-12yrs), Presents with painful swelling over a prominent tibial tubercle (usually unilateral), associated with running/jumping. Often presents in sporty teenagers.
651
ix osgood slatters
An irregular fragmented tibial tubercle may be seen on XR
652
mx osgood slatters
usually self limiting. activity modification, rest, ice, knee brace, NSAIDs, surgery
653
sx discoid meniscus
asymptomatic, instability, clicking, pain 
654
iagnosis discoid meniscus
MRI, arthroscopy
655
mxdiscoid meniscus
none if asx, meniscectomy
656
transient synovitis
inflammation in the hip. It occurs when a viral infection, such as an upper respiratory infection, moves to and settles in the hip joint
657
sx transietn synovitis
Unilateral hip or groin pain is the most common symptom reported, Recent history of an upper respiratory tract infection, pharyngitis, bronchitis, or otitis media, pain on movement, reduced abduction and internal rotation
658
mx transietn synovitisq
Bedrest for 7-10 days, no weight bearing on the affected limb. Apply heat and massage.NSAIDs – ibuprofen/ naproxen, for pain relief
659
classification JIA
Systemic arthritis, Oligoarthritis (most common), Polyarthritis (RF +ve), Polyarthritis (RF -ve), Psoriatic arthritis , Enthesitis-related arthritis , Undifferentiated arthritis
660
sx JIA
Limp, stiffness and loss of function, pain or malaise, Gradual onset, Inflammatory symptoms worse after rest or inactivity, Associated rash, fever, weight loss, Sore throat, URTI, antecedent infections, and travel, FHx of arthritis, psoriasis, colitis, rheumatic fever or acute iritis
661
oligoarticular JIA
<4 joints
662
psoriatic JIA
psoraissia nd arhtritisq
663
Enthesitis related arthritis:
Typically presents as plantar fasciitis
664
systemic JIA
Present very unwell, Rashes (worse during fever), Wide spread lymphadenopathy, Hepatosplenomegaly, Build up fluids - pleural effusions, ascites
665
ix JIA
FBC may show mild anaemia and thrombocytosis, Neutrophilia suggests sepsis or systemic JIA, ESR/CRP usually normal or mildly elevated. Rheumatoid factor: non-specific test, but significant in polyarthritis, ANA: non-specific. In oligoarticular JIA limited prognostic determinant for iritis. 
666
mx JIA
physio, NSAIDS, steroids, immunotherapy (methotrexate, TNF-a inhibitors)
667
complications JIA
flexion contractures (requiring physio and splints), joint destruction (requiring prostheses at young ages), growth failure (from steroids and chronic disease) and chronic anterior uveitis (causing visual impairment).
668
back pain reed flags
Several weeks of symptoms, Night pain, Increasing symptoms, Abnormal neurology, Recurrent onset of scoliosis, Night sweats
669
discitis
Inflammation of the disc space:
670
ntation discitis
: fever, irritability, unwilling to walk, back pain, abdo pain, mainly infants and children
671
ix discitisi
bloods – raised ESR/CRP, MRI, bone scan
672
mx discitis
abx
673
kyphosis
increased curvature of the spine in the sagittal plane, visible from the side
674
presentation kyphosis
hyperextension – stand, bend forwards, bend backwards, associated lumbar lordosis, limited straight leg raising Postural kyphosis: Flexible, usually painless, onset <10 years. Usually tall, flat footed. Congenital kyphosis: Rigid, occasionally painful, onset <10 years.
675
ix kyphosis
PA and lateral standing X-rays of entire spine
676
mx kyphosis
Postural kyphosis: physiotherapy Congenital kyphosis: brace, if progression fusion to prevent paraplegia
677
RF scoliosis
FHx – daughters of affected mothers are more likely to be affected, Marfans, Neurofibromatosis
678
classification scoliossi
True idiopathic scoliosis: Painless, convex to the right in the thoracic spine, not associated with any neurological changes. Treatment – observation -> manipulation + casting -> surgery Congenital scoliosis: Abnormal vertebral development in the first trimester, Often needs surgery Scoliosis secondary to neuromuscular disorders: Progresses more rapidly and may continue after maturity
679
osteogenessi imperfecta
an inherited condition affecting collagen maturation and organisation. It is due to a mutation in type I collagen gene  . Autosomal dominant inheritance
680
featurs osteogenesisi imperfecta
Low birth weight/length for gestational age, Short stature, 50% scoliosis, Joints: ligamentous laxity resulting in hyperextensible joints, Fractures following minor trauma, Blue sclera, Deafness secondary to otosclerosis, Dental imperfections are common
681
osteogenessi imperfecta
Adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta
682
mx osteogenesisi imperfecta
physio, surgery, oral calcium, bisphosphonates
683
rickets
a metabolic bone disease characterised by inadequate mineralisation of bone and epiphyseal cartilage in the growing skeleton of children.
684
causes of rickets
Calcium deficiency which is usually due to vitamin D deficiency or nutrition
685
presentation rickets
Metaphyseal swellings, Bowing deformities , Slowing of linear growth, Motor delay, Hypotonia, Fractures, Respiratory distress
686
ix rickets
nvestigations: Bone biopsies: incomplete mineralisation, mildly reduced calcium levels, loss of cortical bone, Imaging: osteopenia – multiple stress factors are common Biochemical disturbances: Low PO4 (fasting), Serum calcium variable, Raised serum alkaline phosphatase
687
mx rickets
Vitamin D + calcium (possibly IV)
688
neonatal resuscitation
1. Dry the baby, Remove any wet towels and cover , Start the clock or note the time 2. Assess (tone), breathing and heart rate 3. If gasping or not breathing: Open the airway, Give 5 inflation breaths, Consider SpO2 monitoring 4. Re-assess If no increase in heart rate look for chest movement 5. If chest not moving: Recheck head position, Consider 2-person airway control and other airway maneouvres , Repeat inflation breaths, Consider SpO2 monitoring, Look for a response 6. If no increase in heart rate look for chest movement 7. When the chest is moving: If heart rate is not detectable or slow (<60/min), Start chest compressions, 3 compressions to each breath 8. Re-assess heart rate every 30s, If heart rate is not detectable or slow (<60/min), Consider venous access and drugs
689
respiratory distress syndrome
RDS refers to lung disease caused by surfactant deficiency. The disease is largely seen in preterm infants. Rare >32wks gestation. Surfactant is made from around 26 weeks gestation, although adequate levels are not achieved until about 35 weeks. This means that premature babies do not have enough surfactant.
690
who is at increased risk RDS
is associated with: CS delivery, Hypothermia, Perinatal hypoxia, Meconium aspiration, Congenital pneumonia, Maternal diabetes mellitus, Past family history
691
sx RDS
Cyanosis ,Tachypnoea, Chest in drawing, Grunting within 4hr of birth, If untreated, the disease worsens over 48-72hr and then (depending on severity) resolves over 5-7 days
692
ix RDS
Investigations CXR: bilateral, diffuse ‘ground-glass’ appearance (generalised atelectasis), airway bronchograms, reduced lung volume. SpO2 monitoring and blood gases
693
mx RDS
resuscitation.. May need O2, nasal CPAP or ventilation. Surfactant Given as bolus down ETT, penicillin and gentamicin, until congenital pneumonia has been excluded, as it can mimic or coexist with RDS
694
prevention RDS
: Corticosteroids (betamethasone/dexamethasone, 2 doses, 12-hourly) given to mother 1-7 days before birth  
695
bronchiopulmonary dysplasia
oxygen requirement at 36/40 corrected gestational age
696
RF bronchiopulmonary dysplasia
Gestational immaturity , Low birth weight, Males , Caucasian heritage, IUGR, Family history of asthma, History of chorioamnionitis
697
sx bronchiopulmonary dysplasia
Rapid breathing, Laboured breathing , Wheezing, The need for continued oxygen therapy after the gestational age of 36 weeks, Difficulty feeding
698
mx bronciopulmonary dysplasia
Oxygen, Monthly RSV injections during RSV season  
699
evention bronchipulmonary dysplasia
Caffeine citrate for apnoea of prematurity in infants <1250g, Vitamin A supplementation for infants <1000g
700
sx meconium aspiration
respiratory distress soon after birth. Associated with pulmonary air leaks and PPHN (persistent pulmonary hypertension of the newborn).
701
diagnosis meconium aspiation
CXR – generalised lung over inflation with patchy collapse/ consolidation +/- air leaks.
702
mx meconium aspiration
visualise the larynx and suck out any meconium from larynx/ trachea. supplemental O2, intermittent positive pressure ventilation, surfactant, antibiotics, treat any PPHN.
703
complications mecoinum aspiration
Airway obstruction/collapse, Surfactant dysfunction, Pulmonary vasoconstriction, Chemical pneumonitis, Aspiration pneumonia
704
hypoxic oschaemic encephalopathy
Clinical syndrome of brain injury secondary to a hypoxic-ischaemic insult.
705
causes HIE
Lowered umbilical blood flow e.g. cord prolapse, Low placental gas exchange e.g. placental abruption, Low maternal placental perfusion, Maternal hypoxia from whatever cause, Inadequate postnatal cardiopulmonary circulation
706
presentation HIE
altered: Level of consciousness, Muscle tone , Posture, Tendon reflexes, Suck, Heart rate, CNS homeostasis. Respiratory depression at birth, resuscitation, then encephalopathy within 24hr of birth. Moderate to severe acidosis soon after birth pH <7.0 with a base excess worse than -12.
707
diagnosis HIE
EEG monitoring.
708
mx HIE
Resuscitate at birth, Assess eligibility for therapeutic hypothermia (33-34°C within 6hr of insult, maintained for 72h before gradual rewarming), Monitor and maintain homeostasis, Mild fluid restriction initially as there may be oliguria.
709
neonatal hepatitis syndrome
inflammation of the liver that occurs only in early infancy, usually between one and two months after birth
710
causes neonatal hepatitis syndrome
cytomegalovirus, rubella (measles) and hepatitis A, B or C viruses.
711
sx neoatal hepatitis syndrome
Has Jaundice, failure to thrive, hepatosplenomegaly
712
diagnosiss neonatal hepatits syndrome
viral screen, liver biopsy
713
neonatal hepatitis syndrome
vitamins and supplements, liver transplant
714
apgar score
appearance: 0=blue/pale, 1=pink body blue extremeties, 2=pink pulse: 0=absent, 1=<100, 2=>100 grimace reflex: 0=floppy, 1=minimal response to stimulation, 2=prompt response to stimulation activity/muscle tone: 0=absent, 1=flexed arms and legs, 2=active respiration: 0=absent, 1=slow and irregular, 2=vigorous cry
715
TORCH infection
TORCH infection T – Toxoplasma gondii O – Others (Listeria, Varicella, parvovirus B19, Syphilis) R – Rubella virus C – Cytomegalovirus (CMV) H – Herpes simplex virus  
716
features congenital toxoplasmosis
Triad: chorioretinitis, hydrocephalus, intracranial calcifications (ring enhancing lesions). Petechiae and purpura
717
mx congenital toxoplasmosis
Pyrimethamine, sulfadiazine and folinic acid. Give spiramycin to fetus in maternal infection
718
prevwention congenital toxoplasmosis
Avoid uncooked meat, cat feces
719
featurs congenital syphilis
Jaundice and hepatosplenomegaly, lymphadenopathy, nasal discharge, maculopapular rash, skeletal abnormalities. Late onset: frontal bossing, Hutchinson triad (saddle nose, Hutchinson teeth, mulberry molars), sensorineural deafness, saber shins
720
mx congenital syphilis
Penicillin
721
prevention congenital syphilis
Penicillin to mother in early pregnancy
722
featurs congenital listeriosis
Spontaneous abortion and premature birth, meningitis, sepsis, vesicular and pustular skin lesions
723
mx congenital listeriosis
Ampicillin and gentamicin
724
prevention congenital listeriosis
Avoid unpasteurised dairy products, avoid cold deli meats
725
features congenital VZV
IUGR, premature, chorioretinitis, cataract, encephalitis, pneumonia, CNS abnormalities, hypoplastic limbs
726
mx cpngenital VZV
VZIG, acyclovir
727
evention congenital VZV
Immunise mother before pregnant, VZIG
728
featurs congenital parvovirus B19
Aplastic anaemia, fetal hydrops
729
mx congenital parvovirus B19
Intrauterine fetal blood transfusion
730
features congenital rubella
Petechiae and purpura. Congenital rubella syndrome: IUGR, sensorineural deafness, cataracts, heart defects, PDA, CNS abnormalities, hepatitis
731
featurs congenital CMV
Jaundice, hepatosplenomegaly, IUGR, chorioretinitis, sensorineural deafness, periventricular calcifications, petechiae and purpura, microcephaly, seizures
732
mx congenital CMV
Ganciclovir and valganciclovir
733
features congenital HSV
Premature, IUGR, skin/eyes and mouth=vesicular lesions, keratoconjunctivits, meningitis, sepsis
734
mx congenital HSV
Acyclovir
735
prevention congenital HSV
CS if lesions
736
physiological jaundice
Appears after 24hr, usually resolves by 14 days. Due to immaturity of hepatic bilirubin conjugation, but poor feeding (particularly in breast-fed infants) can also contribute
737
causes of elevated bilirubin
Exaggerated physiological jaundice e.g. preterm, bruising, Sepsis, Haemolytic disorders, Hepatic disease
738
treatement of elevated biluribin
tart ‘blue light’ phototherapy (converts bilirubin to water-soluble form that can then be excreted in urine) if chart requires, exchange transfusion if very high 
739
causes of jaundice in the first 24 hrs
: Assume it is pathological. . Causes: haemolysis, red cell enzyme defects, red cell membrane defects, sepsis, severe bruising.
740
causes of prolonged jaundice
14 days if full term, >21 days if pre-term): Causes: breastfeeding, enclosed bleeding, prematurity, haemolysis, sepsis, hypothyroidism, conjugated jaundice, hepatic enzyme disorders. Investigations: SBR, U&E, FBC, DCT, blood group, thyroid function test, LFTs, glucose
741
causes of conjugated jaundice
sepsis, TPN, biliary tract obstruction (e.g. biliary atresia, choledochal cyst), viral hepatitis, TORCH infections, alpha1-antitrypsin deficiency, cystic fibrosis and others
742
kernicterus
A clinical syndrome resulting from the development of excessive neurotoxic unconjugated bilirubin levels.
743
presentation kernicterus
Lethargy progressing to hypertonia then hypotonia, Poor feeding, Fever, High-pitched cry, Opisthotonos (spasm of the muscles causing backward arching of the head, neck, and spine), Seizures and coma
744
mx kernicterus
intensive care, intensive phototherapy and exchange transfusion, Give IV immunoglobulin
745
complicatios kernicterus
high risk of athetoid cerebral palsy, deafness and low IQ
746
necrotising enterocolitis
bowel of premature infants becomes ischaemic and infected.
747
RF necrotising enterocolitis
Prematurity, IUGR, Hypoxia, Polycythaemia, Exchange transfusion, Hyperosmolar milk feeds
748
presentation necrotising enterocolitis
: Most common in the second week after birth. vomiting (which may be bile streaked) and rectal bleeding (fresh blood in stool), Abdominal distension. Late = Additional abdominal tenderness, Blood, mucus, or tissue in stools, Bowel perforation , Shock , DIC; multi-organ failure.
749
ix necrotising enterocolitis
AXR shows intestinal distension, Pneumatosis intestinalis , Hepatic portal venous gas, Signs of intestinal perforation e.g. free peritoneal gas or gas outlining of falciform ligament (‘football sign’)
750
mx necrotising enterocolitis
Prophylaxis=antenatal steroids and breast milk. Stop milk feeds for 10-14 days. IV broad-spectrum antibiotics for 10-14 days e.g. benzylpenicillin, gentamicin, and metronidazole, parenteral nutrition, may need surgery
751
ause cleft lip and palat
orofacial clefts are due to failure of fusion of maxillary and pre-maxillary processes.
752
presentation cleft lip and palate
: A cleft lip is immediately apparent, A cleft palate will interfere with breastfeeding as it precludes generation of suction.
753
mx cleft lio and palate
Lip repair: at around 3 months of age., Palate repair: at around 6 months of age, Follow-up: long-term because of problems with speech, dentistry, and hearing.
754
gastroschisis
defect in the abdominal wall to the right of the umbilicus. The bowel is eviscerated and not covered by a sac.
755
mx gastroschisis
cover the exposed bowel with Clingfilm, total parenteral nutrition, surgery ASAP-may need to be staged
756
exomphalos
Abdominal contents protrude through abdo wall but covered by amniotic sac Associated with Down’s syndrome
757
mx exomphalos
CS to reduce risk of rupture, surgery-staged repair
758
sophageal atresia
blind-ending oesophagus. It is more common in trisomies – Downs/Pataus/Edwards
759
resentation oesophageal atresia
: polyhydramnios and a mucousy baby, Excess mucous, Choking and cyanosis on feeding, VACTERL association (Vertebral anomalies (fused vertebrae, hemivertebrae), Anorectal anomalies (imperforate anus), Cardiac anomalies, Trachea-oesophageal fistula, Renal abnormalities, Limb abnormalities (radial ray anomalies, e.g. hypoplastic thumbs))
760
diagnosis oesophageal atresia
Pass a 10F NGT before feeding the baby, CXR: the tube stops in the upper thorax. Air in the stomach indicates a fistula between the trachea and the distal oesophagus  
761
mx oesophageal atresia
warm, IV fluids, surgery
762
causes neonatal hypoglycaemia
: Endocrine (Hyperinsulinism, Hypopituitarism, Growth hormone deficiency, Hypothyroidism, Congenital adrenal hyperplasia) Metabolic (Glycogen storage disease, Galactosaemia, Organic acidaemia, Ketonic hypoglycaemia, Carnitine deficiency, Acyl CoA dehydrogenase deficiency) Toxic, Hepatic (Hepatitis, Cirrhosis, Reye syndrome) Systemic (Starvation, Malnutrition, Sepsis, Malabsorption )
763
mx neonatal hyooglycaemia
Asymptomatic child= Oral glucose drink or gel. Symptomatic child=Glucose: 10% 5-10mL/kg, or 25% 2-4mL/kg IV, Followed by: continuous infusion of salt solution with 5-10% glucose (6-8mg/kg/min), e.g. 0.45% saline and 5% glucose.
764
diagnosis neonatal hypoglycaemia
blood glucose value <2.2-2.6mmol/L.
765
definition neonatal early onset sepssi
<72h
766
causes neonatal early onset sepsis
)Group B streptococcus, Listeria, Toxoplasma, Rubella, CMV
767
causes neonatal late onset sepsis
Staphylococcus aureus = commonest, Staph epidermidis, E. coli, Pseudomonas, Klebsiella
768
GBS
Strep agalactiae
769
RF GBS
: Premature birth, Water breaks 18 hours or more before you deliver, Have an infection of the amniotic fluid or placenta, Previous case , Fever during labour
770
sx GBS infection
Fever, Fast, slow or strained breathing, Trouble eating, Extreme fatigue, Irritability, Blue colour to the skin
771
mplications GBS infection
Pneumonia, Meningitis, Sepsis
772
mx GBS infection
IV benzylpenicillin to be given intrapartum for women at risk/ with a positive group B strep swab.
773
sx HSV encephalitis
Focal neurology may or may not be present, Focal or generalised seizures, Depressed level of consciousness
774
mx HSV encephalitis
LP
775
mx HSV encephalitis
acyclovir (IV 10mg/kg, tds for 10-14 days).
776
green traffic light features
Normal colour of skin, lips, and tongue. Responding normally to social cues. Content and smiling. Stays awake or awakens quickly. Strong normal cry or not crying. Normal skin turgor and eyes. Moist mucous membranes.
777
amber traffic light features
Pallor of skin, lips, or tongue reported by parent or carer. Not responding normally to social cues. Waking only with prolonged stimulation. Decreased activity. Not smiling. Nasal flaring. Tachypnoea: 6–12 months of age RR* > 50 breaths per minute; > 12 months of age RR* > 40 breaths per minute. Oxygen saturation ≤ 95% in air. Crackles on chest auscultation. Poor feeding in infants. Dry mucous membranes. Capillary refill time of 3 seconds or more. Reduced urine output (in infants ask about wet nappies). Tachycardia: >160 beats/minute under 1 year of age; >150 beats/minute 1–2 years of age; >140 beats/minute 2–5 years of age. Fever for 5 days or more. Rigors. Temperature ≥ 39°C in children 3–6 months of age Swelling of limb or joint. Non weight-bearing or not using a limb.
778
red traffic light featues
Pale, mottled, ashen, or blue skin, lips, or tongue. No response to social cues. Appears ill to a healthcare professional. Unable to rouse, or if roused does not stay awake. Weak, high-pitched, or continuous crying. Grunting. Tachypnoea: RR* 60 breaths per minute or more. Moderate or severe chest indrawing. Reduced skin turgor Temperature ≥ 38°C in infants 0–3 months of age non-blanching rash Bulging fontanelle†. Neck stiffness†. Focal neurological signs†. Focal seizures. Status epilepticus‡.