Paediatrics 1 Flashcards
Respiratory Cardiology Psychiatry Rheumatology & Orthopaedics ENT Genetics Neurology Renal & Urinary
1
Q
Epidemiology + risk factors for development of bronchiolitis
A
< 2 years
Winter
Prematurity
Passive smoking
Underlying disorders: CLD, CHD
2
Q
Diagnostic investigation for bronchiolitis
A
NPA PCR
3
Q
Bronchiolitis presentation
A
Noisy breathing
Cough
Crackles and wheeze
Coryzal
4
Q
Bronchiolitis causative organisms
A
RSV
Rhinovirus, influenza, adenovirus, parainfluenza
5
Q
Part of respiratory tract affected by bronchiolitis
A
LRTI
6
Q
Xray findings severe bronchiolitis
A
Hyperinflation of lungs - flattened diaphragm
Horizontal ribs
7
Q
Bronchiolitis management in hospital
A
Respiratory support:
High flow oxygen therapy
CPAP – HDU admission
Intubation and ventilation – PICU admission
Feeding support:
Small volume frequent sips
NG tube – bolus feeds or continuous feeds
IV fluids
8
Q
Severe adenovirus infection causing bronchiolitis complication
A
Bronchiolitis obliterans
9
Q
Bronchiolitis chest auscultation
A
Fine end-inspiratory crackles
Prolonged expiration
10
Q
Indication for bronchiolitis prophylaxis
A
Immunocompromised
Pavalizumab
11
Q
Causative organism of bronchiolitis obliterans
A
Adenovirus
12
Q
Metabolic abnormality seen in bronchiolitis
A
Hyponatraemia
13
Q
Prompts for bronchiolitis referral to hospital
A
Apnoea (observed or reported)
Child looks seriously unwell
Severe respiratory distress e.g. grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
Central cyanosis
Reduced oral intake by 50-75%
14
Q
Laryngotracheobronchitis
A
Croup
15
Q
Croup clinical manifestations
A
Inspiratory stridor
Barking cough worse at night
Coryzal symptoms
Fever
16
Q
Croup management
A
Oral dexamethasone
Nebulised adrenaline
Oxygenation
17
Q
Croup Xray findings
A
Steeple sign - subglottic narrowing
18
Q
Croup admission indications
A
Audible stridor at rest
< 6 months
Upper airway abnormality known
Severe croup
Uncertain diagnosis
19
Q
Croup bronchoscopy indications
A
Recurrent croup - 5/6x a year
20
Q
Croup epidemiology
A
Autumn
6 months - 6 years
21
Q
Causative organism of epiglottitis
A
HiB
22
Q
3 key symptoms indicating epiglottitis
A
Drooling
Tripod position
Cyanosis
Absence of cough
23
Q
Epiglottitis initial management + antibiotics used
A
Avoid examination
Call anaesthetics
IV antibiotics: e.g. ceftriaxone
24
Q
Antibiotic prophylaxis for epiglotittis
A
Rifampicin
25
Pneumonia: most common causative organism
Strep pneumoniae
26
Diagnostic criteria of pneumonia < 3 years old
>39C (38C if < 3 months)
Chest recession
RR > 50
27
Monophonic wheeze indications
Inhaled foreign body
28
Aspiration pneumonia - most likely area of consolidation?
Right lower lobe of lung
29
Acute asthma management
Oxygen if O2 <92%
Salbutamol (inhaler/nebulised) +/- Ipratropium (nebulised)
Steroids (pred 3 days / dex 1 day)
Escalating:
MgSO4 nebulised
Salbutamol IV
Amino/theophylline
MgSO4 IV
Hydrocortisone IV
30
Viral induced wheeze management
Same as acute asthma management
31
Cystic fibrosis epidemiology: carriers + no of births
1 in 25 are carriers
So 1 in 2500 infants have CF
32
CF pathophysiology
Cl- transport affected – water unable to follow by facilitated diffusion
33
CF gene mutation
Delta F508 on chromosome 7 - encodes CFTR protein
34
Most common causative organism of infections in CF
Pseudomonas aeruginosa
35
3 potential investigations for CF - which is gold standard?
Heel prick
Best: Sweat test / Genetic test - CFTR gene
36
CF features infancy
Meconium ileus
Prolonged jaundice
Failure to thrive
Recurrent chest infections
Malabsorption
37
CF features young child
Bronchiectasis
Rectal prolapse
Nasal polyps
Sinusitis
38
CF features adolescence
Diabetes mellitus
Infertility in males
Pneumothorax or recurrent haemoptysis
Distal intestinal obstruction
39
CF - IRT
Immunoreactive trypsinogen
Raised in heel prick test
40
CF contraindication for lung transplant
Chronic infection with Burkholderia cepacia
41
Vitamin deficiencies in CF
A, D, E, K
Fat soluble, deficiency in pancreatic enzymes
42
Lumacaftor/Ivacaftor
Used in CF
Increases CFTR proteins transported to cell surface
43
False positive causes of sweat test for CF
Skin oedema
Malnutrition
Adrenal insufficiency
G6PD
Nephrogenic diabetes insipidus
44
Chronic infection in CF causative organisms
S aureus
Pseudomonas aeruginosa
Aspergillus
45
CF diet recommendation
High calorie, high fat
Vitamin supplementation
Replacement pancreatic enzymes: CREON
46
PDA treatment
Ibuprofen/indomethacin - inhibits prostaglandin synthesis
47
PDA murmur
Continuous machinery murmur
48
PDA examination findings
Left subclavicular thrill
Active precordium
Wide pulse pressure
Heaving apex beat
Large volume, bounding, collapsing pulse
Continuous machinery murmur
49
Medication to keep PDA patent
Prostaglandin E1
50
Mechanism by which PDA usually closes at birth
Usually closes within first few breaths – due to increased pulmonary flow which enhances prostaglandin clearance
51
Ventricular septal defect murmur
Pansystolic murmur at lower left sternal edge
52
Pathophysiology of pulmonary hypertension in ventricular septal defect
Blood flows from left to right ventricle - increased blood volume so lungs work harder
53
Pathophysiology of R-L shunt in ventricular septal defect
Increased volume of right side of heart due to initial L-R shunt leads to increased pressure so blood flows down pressure gradient
54
Ventricular septal defect Xray findings
Cardiomegaly
Pulmonary oedema
Enlarged pulmonary arteries
55
Most common congenital heart defect
VSD 35%
56
Ventricular septal defect: other conditions associated
Trisomy 13, 18 and 21
Foetal alcohol syndrome
Intrauterine infections
57
Eisenmenger's syndrome
R-L shunt
58
Pathophysiology of atrial septal defect - foramen ovale formation
Septum primum forms, it grows and ostium primum closes
Another opening forms – ostium secundum, and septum secundum forms
It develops opening – foramen ovale
Valve created for blood flow
59
Atrial septal defect: 2 variants + their associations
Ostium secundum failure to close - 90%
Holt-Oram syndrome
Ostium primum failure to close - 10%
25% of Down's
Present earlier
Associated with abnormal valves
60
Atrial septal defect murmur
Ejection systolic murmur - upper left sternal edge, radiates to back
61
Atrial septal defect heart sounds
Fixed split S2
62
Atrial septal defect ECG findings
Ostium secundum - RBBB with RAD
Ostium primum - RBBB with LAD
63
Most common cause of cyanosis in newborn
Tetralogy of fallot
64
Tetralogy of fallot murmur
Ejection systolic
65
4 defects seen in tetralogy of fallot
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy
Ventricular septal defect
66
DiGeorge syndrome cardiovascular malformation association
Tetralogy of Fallot
67
Which defect in tetralogy of fallot is the primary determinant of the severity of symptoms?
Pulmonary stenosis
68
Tetralogy of fallot murmur
Ejection systolic at the left upper sternal border due to pulmonic stenosis
and/or
Holosystolic murmur at the left mid sternal border due to VSD
69
Tetralogy of fallot Xray findings
Boot shaped heart
Absence of thymic shadow
70
Tetralogy of fallot risk factors
Diabetic mother
Increased maternal age
Rubella
DiGeorge syndrome
71
Pathophysiology of tet spells
Worsened R to L shunt
Due to increase in pulmonary vascular resistance
Or
Decrease in systemic resistance
E.g. exertion, CO2 is a vasodilator so systemic vasodilation occurs
72
Management of tet spells
Acutely:
Lie baby on back and bend knees
O2
Beta blockers - relax right ventricle, improve flow to pulmonary vessels
IV fluids - increase preload
Morphine - decrease resp drive
Sodium bicarbonate - for metabolic acidosis
Phenylephrine infusion
73
Tetralogy of fallot management and prognosis
Surgical correction
Surgery has 5% mortality rate
74
2 cyanotic heart conditions
Transposition of great arteries
Tetralogy of fallot
75
TGA risk factors
T1DM and T2DM mother
76
TGA pathophysiology
Failure of aorticopulmonary septum to spiral during septation
77
TGA heart sounds + examination findings
Loud single S2
Promiment right ventricular impulse
78
TGA echocardiogram findings
Parallel aorta and pulmonary trunk
79
TGA Xray findings
Egg on side appearance
80
TGA management
Prostaglandin E1 to maintain PDA
Surgical correction
81
What is ebstein's anomaly?
Tricuspid valves have a lower insertion than normal
Leads to right atrial enlargement and ventricle being smaller (atrialisation of ventricle)
82
Ebstein's anomaly risk factor
Lithium exposure in utero
83
ECG findings in Ebstein's anomaly
Arrhythmias
Right atrial enlargement
RBBB
Left axis deviation
84
CXR findings in Ebstein's anomaly
Low insertion of tricuspid valve with right atrial enlargement
Cardiomegaly
85
Best diagnostic investigation for Ebstein's anomaly
Echocardiogram
Also for assessing severity
86
Ebstein's anomaly other associated conditions
Wolff-Parkinson White syndrome
Patent foramen ovale or ASD in 80%
87
Coarctation of aorta clinical manifestations
Weak femoral pulses
Radio-femoral delay
Subclavicular midsystolic murmur
88
Management of weak femoral pulses
Same day discussion with paediatrics
89
Coarctation of aorta other conditions associated
Turner syndrome
Berry aneurysms
Neurofibromatosis
90
4 features of an innocent murmur
Systolic
Soft
Short
Varies with posture
91
Rheumatic fever causative organism
Beta haemolytic group A strep
Most commonly strep pyogenes
92
Rheumatic fever investigations
Throat swab
ASO antibody titres
Echo, CXR, ECG
93
Rheumatic fever pathophysiology
Type 2 hypersensitivity reaction after infection - usually tonsillitis
94
Rheumatic fever management
Penicillin V 10 days
+ prophylactic into adulthood
NSAIDs for joint pain
Aspirin and steroids for carditis
95
Rheumatic fever diagnostic criteria
JONES Criteria
2 major or 1 major + 2 minor
JONES:
Joint arthritis
Organ inflammation
Nodules
Erythema marginatum rash
Sydenham chorea
FEAR:
Fever
ECG
Arthralgia w/o arthritis
Faised inflammatory markers
96
Rheumatic fever complications
Recurrence
Valvular heart disease
Chronic heart failure
97
Rheumatic fever most likely valvular disease
Mitral stenosis
98
ADHD 3 core behaviour problems
Hyperactivity
Impulsivity
Inattention
99
Pharmacological management of ADHD
1st: Methyphenidate
2nd: Lisdexamfetamine, atomofexetine
100
2 side effects of methyphenidate (Ritalin)
Weight loss
Stunted growth
101
Monitoring in ADHD
Growth
Height every 6m
Weight every 3m if < 10
Or
Every 6m if > 10 (except 3 months after starting treatment)
Measure BP and HR before and after every dose change + every 6 months
102
Which area of the brain shows reduced function in ADHD
Frontal lobe
103
Perthe's disease pathophysiology
Avascular necrosis of the femoral head
104
Perthe's disease epidemiology
5M:F
Primary school age
10-15% cases are bilateral
105
Perthe's disease risk factors
Social deprivation
Passive smoking
106
Perthe's disease presentation acutely + late
Limb + limited motion
Referred pain in thigh/knee
Pain improves with rest
Late:
Leg shortening
107
Perthe's disease investigations
Xray frog leg - repeated through treatment
2nd line: MRI
108
Perthe's disease management
If < 6, observation only
Contain hip: plasters/brace etc.
Surgery
109
Perthe's disease stages
Initial necrosis
Fragmentation
Reossification
Healed
110
Kocker's criteria
3/4 for septic arthritis
T > 38.5
ESR > 40
WCC > 12
Cannot weight bear
111
Limp indications for assessment
Urgent assessment if:
<3 with acute limp
Or
< 3 with temp >38C
112
What is DDH?
Abnormal relationship between femoral head and acetabulum
113
DDH screening test
Barlow - dislocatable
Ortolani - reducible
114
DDH risk factors
Female
First born
Feet first (breech)
First degree family history
Fluid (oligohydramnios)
Fat (macrosomia)
115
DDH epidemiology
8F:M
Left hip more common
116
DDH investigations
NIPE screening
Ultrasound at 6 weeks
Xray if > 4.5 months
Galeazzi test
117
DDH management
Pavlik harness
Surgical reduction
118
DDH: indications for 6 week ultrasound
Breech
Multiple pregnancy
1st degree relative
119
Transient synovitis pathophysiology
Post viral infection, inflammation of joint
120
Rickets pathophysiology
Vitamin D deficiency leading to failure to mineralise new bone
121
3 causes of vitamin D deficiency leading to rickets
Maternal vitamin D deficiency
Lack of sunlight exposure
Lack of vitamin D in diet
122
Rickets Xray findings
Cupping and splaying
Bowed femurs
Widened epiphyseal plates
123
Rickets clinical manifestations
Limb deformity - bowed legs
Limping
Rachitic rosary
Widening of joints
Metaphyseal swelling
Hypotonia
Fractures
Motor delay
124
SUFE epidemiology
Obese male
Secondary school age
125
SUFE % bilateral cases
20%
126
SUFE pathophysiology
Femoral head slips through zone of hypertrophy of epiphyseal cartilage
127
SUFE clinical manifestations
Loss of internal rotation
Waddling gait
Vague thigh/groin pain
128
SUFE investigations + findings
AP and lateral views of both legs - Xray
- Widened growth plate, short displaced epiphysis
129
SUFE management
Surgical pinning on hip - internal fixation
130
Muscular dystrophy mode of inheritance
X-linked recessive
131
Muscular dystrophy aetiology
Mutation of gene encoding dystrophin on Xp21
132
Duchenne muscular dystrophy features
Calf pseudohypertrophy
Progressive muscle weakness from 5y >
Gower sign
133
Duchenne muscular dystrophy investigations
Genetic testing is gold standard
Raised CK and proximal muscle biopsy can also be done
134
Difference in gene mutation between Duchenne and Becker dystrophy
Duchenne: frameshift mutation
Becker: Non-frameshift mutation
135
JIA types
Oligoarticular
Polyarticular
Psoriatic
Enthesitis related
Systemic onset (Still's disease)
136
Macrophage activation syndrome
Associated with systemic onset JIA (Still's disease)
DIC, anaemia, thrombocytopenia, non-blanching rash
LOW ESR!
137
Oligoarticular JIA features + antibodies + management
< 4 joints affected
Asymmetrical
Anterior uveitis
Large joints
ANA +ve
RF -ve
Steroid joint injections
138
Polyarticular JIA features
> 4 joints affected
Symmetrical
Small joints
139
Psoriatic JIA
Salmon-pink rash
Nail pitting
Onycholysis
Dactylitis
Enthesitis
140
Still's disease
Fever > 5 days
Joint pain
Salmon-pink rash
141
JIA management options
1 NSAIDs
2 Methotrexate
3 Systemic steroids
Steroid joint injections 1st line for oligoarticular
142
3 non-infective differentials for child with fever > 5 days
Still's disease
Kawasaki disease
Rheumatic fever
Leukaemia
143
Osteogenesis imperfecta mode of inheritance
Autosomal dominant
144
Osteogenesis imperfecta pathophysiology
Defect in type 1 collagen due to COL1A1 or COL1A2 gene mutation
145
Osteogenesis imperfecta features
Bone fragility and deformity - rickets, scoliosis
Recurrent fractures
Blue/grey sclera
Hypermobility
Deafness
Hernias
Valve prolapse
146
Osteogenesis imperfecta management
Bisphosphonate therapy
Vitamin D supplementation
147
Management of unexplained bone pain or swelling
Urgent 48 hour Xray
Specialist Xray within 48 hours if Xray has suggestive signs
148
Osteosarcoma Xray findings
Sunburst appearance
Fluffy
New bony growth and periosteal reaction
149
Most common primary malignancy of bone in children
Osteosarcoma
150
Ewing's sarcoma presentation
Usually metastatic
Infection, fever
151
Ewing’s sarcoma Xray findings
Diaphysis of long bones
Lamellated periosteal reaction (onion skinning)
152
Ewing’s sarcoma MRI findings
Necrosis
153
Ewing’s sarcoma appearance on histology
Small, blue, round cells with clear cytoplasm
154
Chondromalacia patellae
Softening of cartilage of patella
Teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
155
Osgood-Schlatter disease
Sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
AKA tibial apophysitis
156
Osteochondritis dissecans
Pain after exercise
Intermittent swelling and locking
157
Patellar subluxation
Medial knee pain due to lateral subluxation of patella
Knee may give way
158
Patellar tendonitis
Athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
159
Otitis media appearance on otoscopy
Bulging tympanic membrane
Loss of light reflex
160
Acute suppurative otitis media appearance on otoscopy
Mucopurulent discharge
161
Otitis media with effusion appearance on otoscopy
Grey tympanic membrane
Loss of light reflex
Visible fluid behind tympanic membrane
162
Otitis media: criteria for ENT referral
> 6 episodes in 1 year
Persistent OM with effusion > 3 months bilaterally OR > 6 months unilaterally
163
Otitis media: indications for antibiotics
Symptoms ≥ 4 days
Systemically unwell
Immunocompromise
<2 years old with bilateral otitis media
AOM with perforation or discharge
164
Otitis media: which antibiotics are used?
1st: Amoxicillin
2nd: Clarithromycin
165
Otitis media complications
Mastoiditis
Tympanic membrane perforation
Meningitis
Abscess
166
Glue ear
Otitis media with effusion
167
Grommet mechanism
Keeps middle ear aerated and prevents fluid accumulation
168
Risk factors for otitis media + effusion
Older sibling
Male
Nursery attendance
Parental smoking
Allergies
169
Mastoiditis management
IV antibiotics
170
Newborn Hearing Screening Programme + 2nd line
Otoacoustic emission test
Auditory Brainstem Response test
171
School entry hearing test
Pure tone audiometry
172
Centor criteria
Likelihood of strep infection in tonsillitis
Tonsillar exudate
Cervical lymphadenopathy
Fever > 38
Abscence of cough
3/4
173
FeverPAIN score
Likelihood of strep infection
Fever over 38°C.
Purulence (pharyngeal/tonsillar exudate)
Attend rapidly (3 days or less)
Severely Inflamed tonsils
No cough or coryza
4/5 to give Abx
174
Tonsillitis most common causative organisms
Group A Strep
E.g. Pyogenes
Streptococcus pneumoniae
Haemophilus influenzae
Morazella catarrhalis
Staphylococcus aureus
175
Tonsillitis: which antibiotics are used?
1st: Phenoxymethylpenicillin 5-10 days
Clarithromycin/erythromycin
176
Indications for tonsillectomy
≥ 7 episodes in 1 year
≥ 5 episodes/year over 2 years
≥ 3 episodes/year over 3 years
OR
OSA or sleep-deprived breathing
177
Tonsillitis complications
Recurrent Tonsillitis
Retropharyngeal Abscess
Peritonsillar Abscess (Quinsy)
Lemierre's syndrome
178
Lemierre's syndrome presentation + management
Inflammation within the internal jugular vein and septic emboli
High dose benzylpenicillin and debridement
179
Peritonsillar abscess management
Antibiotics + aspiration
180
Sinusitis: which antibiotics are used?
1st: Penicillin V (phenoxymethylpenicillin)
2nd: Clarithromycin
3rd: Doxycycline (not if < 12)
Systemically very unwell: co-amoxiclav
181
Sinusitis complications
Periorbital sinusitis
182
Periorbital cellulitis features
URTI followed by painful swollen eye
Proptosis
Red colour vision loss
183
Periorbital cellulitis investigation + management
CT orbit
IV antibiotics, drainage of abscess
184
Most common cause of stridor in neonates
Laryngomalacia
185
Laryngomalacia management
Monitoring - usually self corrects at 12-18 months
Otherwise supraglottoplasty can be done
186
Laryngomalacia appearance
Shorter aryepiglottic folds create omega shaped epiglottis
187
Branchial cyst features
Anechoic USS
Transilluminable
Originate from 2nd branchial cleft
Lateral
188
2 midline neck masses
Thyroglossal cyst
Dermoid
189
Thyroglossal cyst features
Below hyoid
Anechoic USS
Moves with tongue protrusion
190
Down syndrome features
Short stature
Low set ears
Brushfield spots on iris
Sandal toe gap
Uploping eyes
Flat ears
Large tongue
Flat nasal bridge
CHD
Hypotonia
Single palmar crease
191
Down syndrome antenatal testing results
Combined: HCG up, PAPP-A down, thickened nuchal translucency
Triple/quadruple: inhibin A up, oestriol down, HCG up, AFP down
192
Aetiology of Down syndrome
Trisomy 21
Genetic mutations:
Non-disjunction
Translocation (Robertsonian)
Mosaicism
193
Down syndrome: gastrointestinal disorders associated
Duodenal atresia
Hirschsprung's disease
194
Down syndrome: check ups
Regular thyroid checks
Echocardiogram
Regular audiometry
Regular eye checks
195
Patau syndrome aetiology
Trisomy 13
196
Patau syndrome features
Polydactyly
Cleft Palate
MicroPhthalmia
Micrognathia
197
Edward syndrome aetiology
Trisomy 18
198
Edward syndrome features
Micrognathia
Rocker bottom feet
Overlapping of fingers
CHD
Microcephaly
Low-set ears
199
Pierre-Robin sequence features
Micrognathia
Posterior displacement of tongue
Cleft palate
200
Pierre-Robin sequence aetiology + syndromic associations
SOX9 gene mutation
Stickler syndrome / campomelic dysplasia
201
Turner syndrome karyotypes + aetiology
Monosomy X0
Also possibly for 46 XY - Mosaic Turner syndrome
SHOX gene affected
202
Turner syndrome features
Lymphoedema in neonates
Delayed puberty
Short stature
Recurrent otitis media
Webbed neck
Low posterior hairline
Bicuspid aortic valve
Low set ears
Spoon shaped nails
203
Turner syndrome investigation results
Increased FSH, LH
Decreased oestrogen
204
Turner syndrome management
Oestradiol for amenorrhoea
GH for short stature
205
Noonan syndrome mode of inheritance
Autosomal dominant
206
Noonan syndrome associated cardiovascular malformations + other features
Pulmonary stenosis
Hypertrophic cardiomyopathy
ASD
VSD
Pectus carinatum + excavatum
Short stature
Low set ears
Webbed neck + widely spaced nipples
Cryptorchidism
207
Diagnosis of constitutional delay
Xray hand
208
Kallman syndrome aetiology
Hypogonadotropic hypogonadism
Secondary gonadal failure
Due to failure of GnRH secreting neurons to migrate to hypothalamus, leading to congenital deficiency of GnRH
209
Kallman syndrome features
Delayed puberty
Cryptorchidism
Anosmia - 75%
210
Klinefelter's syndrome karyotype
47XXY
211
Klinefelter's syndrome aetiology + presentation
Hypergonadotropic hypogonadism
Tall
Small, firm testicles < 5ml
Infertile
Gynaecomastia
Reduced pubic hair
212
William's syndrome aetiology
Microdeletion on chromosome 7
213
William's syndrome features
Elfin-like facies
Friendly
Short stature
Strabismus
Learning difficulties
Transient neonatal hypercalcaemia
Elongated philtrum
Supravalvular aortic stenosis
214
William's syndrome associated cardiac malformation
Supravalvular aortic stenosis
215
Fragile X syndrome mode of inheritance + gene affected
X linked dominant
CGG repeat in FMR-1 on chromosome X
216
Fragile X syndrome features
Males more affected due to 1 X chromosome
Learning difficulties
Large low set ears
Long thin face
High arched palate
Hypotonia
Macrocephaly
Autism
Macroorchidism
217
Fragile X syndrome associated cardiac malformation
Mitral valve prolapse
218
Angelman syndrome aetiology
Genomic imprinting
Maternal gene deleted
219
Prader Willi syndrome aetiology
Genomic imprinting
Paternal gene deleted
220
McCune-Albright syndrome aetiology
Random, somatic mutation in GNAS gene
221
McCune-Albright syndrome features
Precocious puberty
Cafe au lait spots
Short stature
Polyostotic fibrous dysplasia
222
Tay-Sachs disease aetiology
Autosomal recessive
Fault in HEXA gene
223
Tay-Sachs disease features
"Cherry-red" spots in eyes
Progressive macrocephaly
Seizures
Vision & hearing loss
224
DiGeorge syndrome aetiology
Microdeletion of q arm of chromosome 22
Loss of TBX1/COMT gene
225
DiGeorge syndrome features
Interrupted aortic arch
VSD
Cleft palate
226
4 types of cerebral palsy
Spastic
Dyskinetic
Ataxic
Mixed
227
Cerebral palsy + primitive and postural reflexes
Persistent primitive reflexes
Lack of development of postural reflexes
Due to UMN abnormality
228
Primitive reflexes
Moro
Grasp
Galant
229
Postural reflexes
Positive support
Landau
Lateral propping
Parachute
230
Delayed motor milestones examples
Not sitting by 8 months
Not walking by 18 months
Early assymetry of hand function before 1 year
231
Medications to treat spasticity in cerebral palsy
Diazepam
Baclofen
232
ALL features
Pallor
Lethargy
Splenomegaly
Petechiae
233
ALL investigations
Blood film - blast cells
Bone marrow aspiration
Lumbar puncture
Anaemia
Thrombocytopenia
Leukocytosis
234
3 poor prognostic factors of ALL
Male
Non-Caucasian
Age < 2 or > 10
T or B cell surface markers
235
Brain tumour symptoms
Persistent headaches - worse in mornings
Signs of raised ICP - HTN or bradycardia
Seizure in older child without fever or history of seizures
236
Indications to admit for febrile seizure
< 18 months
Uncertain cause
Features of complex febrile seizure
Recent antibiotics
1st seizure
Focal neurological deficit
Decreased level of consciousness prior to seizure
Parent/carer anxiety
237
Febrile seizure clinical presentation
Tonic-clonic seizures
Usually brief < 5 minutes
238
Absence seizure EEG findings
3 Hz spike and wave
239
Absence seizure management
Ethosuxumide > Sodium valproate
240
How can an absence seizure be precipitated?
Hyperventilation
241
Reflex anoxic seizure features + pathophysiology
Benign
Associated with precipitating trigger e.g. sudden pain or vomiting
Due to overstimulation of vagus nerve
242
Benign rolandic epilepsy features
3-10 years
Partial seizures at night - paraesthesia on waking up
Outgrow around puberty
243
Benign rolandic epilepsy EEG findings
Centro-temporal spikes
244
Febrile seizures management
Reassure + safety net
Admission if:
1st febrile seizure
< 18 months old
Has taken antibiotics
Complex febrile seizure
Focal neurological deficit
No fever
Uncertain diagnosis
LOC before seizure
245
Features of complex febrile seizure
Partial or focal seizures
> 15 minutes
Occur multiple times during illness / within 24 hours
Doesn't fully recover within 1 hour
246
Janz syndrome
Juvenile myoclonic epilepsy
247
Juvenile myoclonic epilepsy features
10-14, F>M
Generalised seizures in morning leading to sleep deprivation
Daytime abscences, clumsiness
Sudden shock-like myoclonic seizures
248
Juvenile myoclonic epilepsy management
SV > lev
249
Lennox-Gastaut syndrome EEG findings
Slow spike and wave
250
Lennox-Gastaut syndrome features
Drop attacks
Learning difficulties – severe & worsen over time
251
Benign myoclonic epilepsy features
Infancy
Myoclonic jerks in sleep
252
Infantile spasm features
Poor prognosis
Salaam attacks / jack-knife spasms
253
Infantile spasms EEG findings
Hypsarrhythmia
254
Retinoblastoma gene mutation
RB1 tumour suppressor gene mutation on chromosome 13
255
Retinoblastoma examination findings
Absence of red reflex
Leukocoria (white pupil)
Strabismus (squint)
Visual problems
Swollen/shrunken eye
256
Erb's palsy features
"Waiter's tip" position - adduction and internal rotation of arm
Pronation of forearm
257
Hydrocephalus investigation
Cranial ultrasound - through anterior fontanelle
258
Hydrocephalus causes
Obstructive: tumour, acute haemorrhage, developmental abnormalities
Non-obstructive: choroid plexus tumour, meningitis
259
Hydrocephalus features
Impaired upward gaze
Bulging anterior fontanelle
Enlarged head circumference
Distension of veins across scalp
260
UTI investigations
USS
MCUG - VUR
DMSA - scarring
261
Indications for hospital admission with UTI
< 3 months
No response within 24-48 hours of treatment
262
Antibiotics for UTI
1st: trimethoprim / nitrofurantoin
2nd: amoxicillin / cefalexin
If < 3 months: IV cefotaxime / ceftriaxone + amoxicillin
263
Imaging for recurrent UTI
USS during acute infection if < 6 months
USS within 6 weeks if > 6 months
DMSA scan 4-6 months after UTI
264
Imaging for atypical UTI
USS during acute infection
DMSA scan 4-6 months later if < 3 years old
265
Indication for imaging with USS of UTI during acute infection
Non-E. coli infection
Failure to respond to Abx after 48 hours
Abdominal mass
Poor urine flow
Recurrent UTI < 6 months old
266
Indication + timing for imaging with DMSA scan for UTI
4-6 months later
< 3 years old with atypical UTI
Anyone with recurrent UTI
267
Haemolytic uraemic syndrome features
Haemolytic uraemia
Thrombocytopenia
AKI
268
Haemolytic uraemic syndrome investigations + results
FBC: anaemia, thrombocytopaenia, fragmented blood film, decreased haptoglobin
U&E: AKI
Stool culture
Looking for evidence of STEC infection
PCR for shiga toxins
(pls fix)
269
Antibiotics for pyelonephritis
Cephalosporin / co-amoxiclav 7-10 days
270
Most common childhood malignancy
ALL
271
Wilm's tumour features
Abdominal mass
Haematuria
Abdominal/flank pain
272
Management of unexplained abdominal mass
Paediatric review within 48 hours
273
What % of UTI cases does vesicoureteric reflux account for?
30%
274
Minimal change disease management
1st: steroids
2nd: ciclosporin
275
Minimal change disease triad
Proteinuria
Hypoalbuminia
Oedema
276
Complications associated with nephrotic syndrome
DVT/PE
Pleural effusion
Increased risk of infection due to Ig loss in urine
Chronic kidney disease
Hypocalcaemia
Hyperlipidaemia (increased risk of stroke/MI)
277
3 causes of nephritic syndrome
IgA nephropathy
Post streptococcal glomerulonephritis
Alport syndrome
278
Alport syndrome aetiology + mode of inheritance
Defective gene coding for type IV collagen - producing abnormal GBM
X-linked dominant
279
Alport syndrome features
Microscopic haematuria
Progressive renal failure
Bilateral sensorineural deafness
280
Management of nocturnal enuresus + age
Age > 5
1: enuresis alarm
2: desmopressin
281
Hypospadias most likely location
Distal ventral
282
Management of hypospadias
Corrective surgery around 12 months
Avoid circumcision before surgery
283
Phimosis management
Most resolve by 2 years old
Circumcision
284
Testicular torsion features
Absent cremaster reflex
Elevation of testis does not ease pain (-ve Prehn's sign)
285
Epididymitis features
Present cremaster reflex
Elevation of testis eases pain (+ve Prehn's sign)
