Paediatrics Flashcards
(314 cards)
1
Q
Neonate with VSD, overriding aorta and infundibular stenosis
A
Tetralogy of Fallot
2
Q
CXR: reticulonodular shadowing in neonate
A
Bacterial pneumonia
3
Q
Widespread blanching maculopapular rash with spots of different sizes sparing the head and neck
A
Meningococcal sepsis
4
Q
Intermittent high fever
Widespread evanescent salmon-pink rash
Can’t weight bear
A
JIA (systemic arthritis)
5
Q
Quiet systolic murmur best heard at the upper left sternal edge.
The second heart sound is widely split
A
Atrial septal defect
6
Q
Increased pigmentation of the areolar and nipples bilaterally
A
Congenital adrenal hyperplasia
7
Q
Most common cause of failure to pass meconium
A
Meconium Plug Syndrome = transient immaturity of gut –> can’t move a plug of meconium along
-Treatment: anal stimulation with glycerine chip
8
Q
Lactose intolerance caused by deficiency in which enzyme?
A
Lactose dehydrogenase
9
Q
Puffy feet at birth (with widely-spaced nipples and absent femoral pulses)
A
Turner’s Syndrome
10
Q
Caused by deficiency in galactose-1-phosphate uridyl transferase
A
Galactosaemia
11
Q
Ill after drink lactose-containing milks –> recurrent E. coli sepsis and cataracts
Urine-reducing substances in urine
A
Galactosaemia
12
Q
Dizziness, SOB and fainting –> ECG shows delta wave
A
Wolff-Parkinson-White Syndrome (spontaneous re-entry tachycardia/SVT)
13
Q
Brain MRI shows subependymal calcifications and hypointense white matter lesions
A
Tuberous Sclerosis
14
Q
Brain MRI shows many hyperintense, inflammatory white matter lesions
A
MS
15
Q
Sandpaper skin, erythematous rash
Red tongue
A
Scarlet Fever
16
Q
Single transverse palmar crease
Almond-shaped eyes
Protruding tongue
A
Down’s Syndrome
17
Q
Tight Achilles tendon –> clonus
Clasp-knife response (resistance when flex arm, until it suddenly gives way)
A
Spastic Cerebral Palsy
18
Q
Tiptoe walk
A
Unilateral (hemiplegic) Cerebral Palsy
19
Q
Scissoring gait
A
Bilateral (quadriplegic) Cerebral Palsy
20
Q
Formula for mid-parental height
A
Mean of parents height –> +7 for boy/-7 for girl
21
Q
Short legs, normal torso
A
Skeletal Dysplasia (achondroplasia) -->calculate Subischial Leg Length = Total Height - Sitting Height
22
Q
Commonest cause of delayed puberty
A
Constitutional Delay
23
Q
Crescent Sign on Abdo X-Ray
Target Sign on Abdo US
A
Intussusception
24
Q
Appendicitis with generalised guarding
A
Perforation
25
Colicky abdominal pain -- pale around mouth during pain
| Redcurrant jelly stool
Intussusception
26
Gram -ve bacillus which causes mesenteric adenitis
Yersinia enterocolitica
27
Olive-like mass in RUQ
Pyloric Stenosis
28
Constipation then diarrhoea --> pass loose, smelly stools without child realising
"Overflow soiling" in faecal impaction
29
Down Syndrome associated with which large bowel disease?
Hirschsprung Disease
30
Main cause of encopresis (soil yourself)
Chronic constipation
31
Cry during defecation
Anal fissure
32
Periumbilical abdo pain – relieved by pooing
Alternate between constipation and diarrhoea
Feeling of incomplete defecation
IBS
33
Epigastric pain wakes them at night and radiates through back
Peptic Ulcers
34
Main diagnostic test for peptic ulcers
Carbon-13 urea breath test (swallow urea labelled with 13C--> wait 30 mins --> detected 13CO2 in breath = shows that H. pylori is present, making urease)
Also do stool antigen for H. pylori
35
Connects right and left atria during pregnancy
Foramen ovale
36
Connects pulmonary artery to aorta during pregnancy
Ductus arteriosus
37
- Ejection systolic murmur at left sternal edge
| - Widely-split S2
Atrial Septal Defect
38
- Pansystolic murmur at left sternal edge
Ventricular Septal Defect
39
- Continuous murmur beneath left clavicle
| - Bounding pulse (pulse pressure increased)
Persistent Ductus Arteriosus
40
- Hypercyanotic spells: severe SOB, pallor, crying
- Clubbing in fingers and toes in older kids
- Harsh ejection systolic murmur at left sternal
Tetralogy of Fallot
41
- Cyanosis from day 2 (ductal closure = less mixing)
- Loud 2nd heart sound
- CXR: narrow upper mediastinum, with “egg on string” appearance of cardiac shadow
Transposition of Great Arteries
42
- Cyanosis at birth --> heart failure at 2 weeks
- Superior axis on ECG
- Common in Down Syndrome
Atrioventricular Septal Defect
43
- Ejection systolic + click at upper left sternal edge
Pulmonary Stenosis
44
- Absent femoral pulses
| - Shock/cyanosis at 2 days when duct closes
Coarctation of Aorta
45
Strawberry tongue
Peeling skin
Cervical lymphadenopathy
Kawasaki Disease
46
Causes testicular torsion
“Clapper Bell” Testis = undescended testis lying transversely
47
Cottage-cheese discharge on penis glans
Smegma
48
Phimosis (pathologically non-retractile foreskin) caused by?
Balanitis Xerotica Obliterans (BSO) = lichen sclerosus in penis!
Treatment: topical betamethasone
49
Dark patch on armpit of diabetic
Acanthosis Nigrans (shows insulin resistance)
50
Commonest cause of congenital hypothyroidism in UK
Maldescent of thyroid
51
Overlapping fingers
“Rocker-bottom” feet (like rocking chair)
Small chin
Edwards Syndrome (Trisomy 18)
52
Clitoral hypertrophy and fusion of labia
Congenital Adrenal Hyperplasia
53
Faltering growth, large tongue and goitre
Congenital hypothyroidism
54
Polydactyly (extra fingers)
Cleft lip and palate
Small eyes
Patau Syndrome (Trisomy 13)
55
Small testicles
Gynaecomastia
Tall and weak
Klinefelter Syndrome (47, XXY)
56
Prader-Willi affects which chromosome?
Chr 15 (imprinting = uniparental disomy)
57
Diagnostic test for Prader-Willi
DNA-methylation testing = absence of paternal PWS region
58
Wide-spaced and down-slanting eyes
Short stature
Pectus excavatum
Noonan Syndrome
59
Heart murmur in Noonan Syndrome
Pulmonary stenosis
60
1. Most common all-cause of death <5yrs
| 2. Most common infectious cause of death <5yrs
1. Prematurity
| 2. Pneumonia
61
When would you use electronic thermometer in axilla?
<4 weeks (use tympanic for older)
62
Causes of early-onset sepsis
Group B Strep and E. coli
63
Bulging fontanelle and opisthotonos (hyperextension of neck/back) in neonate
Neonatal Meningitis
64
Treatment of early-onset sepsis
IV benzylpenicillin + gentamicin
| Add cefotaxime if Gram -ve sepsis
65
Causes of late-onset sepsis
Staph epidermis (coagulase-negative staph)
66
Treatment of late-onset sepsis
Flucloxacillin + gentamicin
| add vancomycin for staph epidermis
67
What is Brudzinski Sign?
In meningitis: child supine – neck flexion causes hip/knees flexion
68
What is Kernig Sign?
In meningitis: child supine and hips/knees flexed – back pain when extend knee
69
Main cause of viral meningitis
90% enterovirus (Coxsackie Group B)
70
Treatment of encephalitis
IV aciclovir
71
Painful white pustules on fingers (esp on broken skin)
Herpetic Whitlow
72
When can kids go back to school after chickenpox
5 days after rash onset (infectious until all lesions dry and crusted)
73
GP gives abx for the fever --> generalised macular rash appears --> he mistakenly thinks it is an allergic reaction
```
Roseola Infantum (Exanthema Subitum) - caused by HHV6
-get rash after fever subsides, it's nothing to do with the abx!
```
74
Lace-like rash on trunk/limbs
Erythema Infectiosum (“Slapped-Cheek Syndrome”) = Human Parvovirus B19
75
- Maculopapular rash: face --> spreads centrifugally across body
- Suboccipital and postauricular lymphadenopathy
- Mild prodrome: fever <39, headache, malaise
Rubella
76
1st-line management of iron-deficiency anaemia
Dietary advice and oral iron
• Sytron (sodium iron edetate) or Niferex (polysaccharide iron complex)
--> continue for 3 months after Hb normal – should rise by 10 a week
77
Genetics of Sickle Cell
Mutation in codon 6 of β-globin gene = glutamate to valine
78
Drug given to kids with recurrent vaso-occlusive crises
Hydroxycarbamide (increases HbF)
79
Easy bruising/bleeding after viral infection
Immune Thrombocytopenic Purpura (ITP)
| --> most self-resolve within 8 weeks
80
Adrenaline doses for anaphylaxis
IM Adrenaline 1:1000
0-6yrs: 0.15mL
6-12yrs: 0.30mL
12+yrs: 0.5mL
81
Lactose intolerance caused by deficiency in which enzyme?
LACTOSE dehydrogenase
82
Commonest cause of viral conjunctivitis
Adenovirus = 80%
83
Conjunctivitis with lots of discharge
Gonorrhoae
84
White pupillary reflex (leukocoria) and squint
Retinoblastoma
85
Mutation associated with retinoblastoma
RB1 mutation (chr 13)
86
Difference between Barlow and Ortolani tests?
o Barlow Test: push hip forward and in--> it dislocates
| o Ortolani Test: pull hip back and out--> it relocates
87
Asymmetrical skin folds around hip
Developmental Dysplasia of the Hip
88
Osteomyelitis is infection of which part of bone?
Metaphysis
89
Knee pain after exercise in sporty adolescent
Osgood-Schlatter Disease = osteochondritis of the patellar tendon’s insertion into knee
90
Persistent knee pain + local tenderness over femoral condyles in very sporty adolescent
Osteochondritis Dissecans = avascular necrosis --> piece of bone and cartilage separates from medial femoral condyle in femur
91
Blue sclera and bones easily break
Oteogenesis imperfecta
92
How to differentiate between transient synovitis and septic arthritis?
```
Kocher Criteria
o Non weight-bearing on affected side
o ESR>40
o Fever >38.5
o WCC>12,000
```
93
Most common cause of joint pain in kids
Reactive Arthritis (Reiter’s Syndrome)
94
Joint pain and salmon-pink macular rash
JIA (Systemic Arthritis)
95
Key diagnostic test for Hypoxic-Ischaemic Encephalopathy
Amplitude-integrated EEG
96
CXR in neonate shows diffuse "ground-glass" appearance
Respiratory Distress Syndrome
97
CXR in neonate shows "widespread opacification"
Bronchopulmonary Dysplasia
98
Antibiotics used in necrotizing enterocolitis
Amoxicillin, gentamicin and metronidazole
99
CXR in neonate shows fluid in horizontal fissure. Baby is term born
Transient Tachypnoea of Newborn (TTN)
100
Central cyanosis in otherwise well baby
Congenital Heart Disease
101
Which type of seizure gives EEG with 3 spike waves per second in all leads?
Absence seizure
102
Epilepsy drug which induces liver enzymes
Carbamazepine
103
Infantile spasms have what EEG appearance?
Hypsarrhythmia = chaotic brain activity
104
Waddling gait, calves very big
Duchenne Muscular Dystrophy (big calves = pseudohypertrophy)
105
What is genetic mechanism underlying Duchenne?
Deletion of dystrophin gene (connects cytoskeleton of muscle fibre to surrounding ECM)
106
Newborn born with hypotonia
| Club foot/talipes (feet point down and in, soles face back)
Myotonic Muscular Dystrophy
107
Head trauma --> lose consciousness, have lucid interval, then lose consciousness again
Extradural Haemorrhage
108
Type of brain haemorrhage with retinal haemorrhages
Subdural Haemorrhage
109
LP shows xanthochromia (yellow CSF)
Intraventricular Hamorrhage
110
Setting-Sun Sign (eyes deviate down)
Hydrocephalus
111
Lisch Nodule
Neurofibromatosis Type 1
| Lisch Nodule = haemoatoma of iris
112
Depigmented ash-leaf patches
Tuberous Sclerosis
113
MRI brain shows subependymal calcified nodules
Tuberous Sclerosis
114
Skull X-Ray shows railroad track calcification of gyri
Sturge-Weber Syndrome
115
Neurological disease causing panda eyes
Neuroblastoma
116
CXR shows bowel loops in chest
Diaphragmatic Hernia
117
Important complication of Diaphragmatic Hernia
Pulmonary hypoplasia = herniated abdo organs compress lungs during pregnancy --> lung have not developed
118
Drug class causing cleft lip/palate
Anticonvulsants (phenytoin)
119
Confirmatory diagnostic test of oesophageal atresia
Birth: pass wide-calibre feeding tube --> X-Ray shows it doesn’t reach stomach
120
Down Syndrome associated with which congenital GI abnormality?
Duodenal Atresia
121
Confirmatory diagnostic test of biliary atresia
ERCP: abnormal biliary tree
122
First-line management of biliary atresia
Kasai hepatoportoenterostomy (HPE): attach loop of jejunum to porta hepatis (area of liver from which bile drains)
123
Organism causing UTI in structural abnormality/catheter
Pseudomonas
124
Management of UTI in <3 months/septic
Hospital ASAP
o IV co-amoxiclav for 7 days
o Then oral prophylaxis
125
Periorbital swelling and puffy face on waking
Nephrotic Syndrome (also ask for frothy urine!)
126
What is Alport Syndrome?
Familial Nephritis: X-linked recessive-
1. GBM degeneration --> end-stage renal failure in young men
2. Sensorineural deafness
3. Eye changes
127
Kidney tumour with mixed tissue densities (cystic and solid)
Nephroblastoma
128
Commonest cause of stridor
Croup
129
Main cause of croup
Parainfluenza
130
Dose of oral dexamethasone needed for croup
0.15mg/kg
131
Add-on therapy for asthma in
1. <5yrs
2. >5yrs
1. LTRA
| 2. LABA
132
Dose of prednisolone for acute asthma (and max dose)
1-2mg/kg --> max 40mg
133
Cause of Whooping Cough
Bordetella Pertussis (bacteria)
134
Treatment of Whooping Cough
Clarithromycin (if cough started in last 21 days)
135
What is seen on heel-prick test in CF?
Raised immunoreactive trypsinogen (IRT)
136
Omega-shaped larynx
Laryngomalacia
137
Sore throat --> red goose pimples rash (punctate "pinhead" erythema) --> strawberry tongue
Scarlet Fever (usually strep pyogenes = Group A beta haemolytic strep)
138
Intensely painful throat
Saliva drools down chin (can't swallow or speak)
Inspiratory stridor --> sit forward to maximise airway
Epiglottitis
139
Cause of epiglottitis
Haemophilus influenza type B (HiB)
140
Sore throat with hoarseness
Laryngitis
141
Lateral neck X-ray shows “thumbprint sign”
Epiglottitis
142
Child tugging at ear all the time
Acute Otitis Media (ask this in any infection history!)
143
Antibiotic used for otitis media
Amoxicillin for 5 days (give if does not improve with analgesia after 3 days)
144
Otoscopy shows dull and retracted ear drum
Otitis Media with Effusion (“Glue Ear”)
145
Red, eczematous ear --> pain worse when tragus/pinna moved
Otitis Externa (“Swimmer’s Ear”)
146
Have a cold --> increase in symptoms after 5 days/persistence after 10 days
Sinusitis
147
Liver US shows echogenic liver
Non-Alcoholic Fatty Liver Disease (echogenic = fat infiltration)
148
Treatment of Wilson's Disease
Penicillamine or trientine = increase urine copper excretion
| Also zinc reduces copper absorption
149
White pimples on nose, cheeks, eyes in newborn
Milia = retention of keratin and sebaceous material in pilosebaceous follicles
150
Nappy rash which spares flexures
Irritant contact dermatitis (differentiates from other types of nappy rash)
151
Nappy rash with satellite lesions
Candida
152
Well-defined erythematous scaly patches on scalp
Seborrheic Dermatitis
153
Cause of seborrheic dermatitis
Malassezia yeast = commensal skin yeast
154
Thick yellow scaly on scalp, eyebrows, behind ears
Seborrheic Dermatitis
155
Pearly skin-coloured lesions with central umbilication
Molluscum Contagiosum
156
Ring-shaped skin lesions, with central sparing
Tinea (ringworm)
157
Separation of nail from nail bed
Onychomycosis (tinea of nail)
158
Diagnostic test for tinea capitis (scalp)
Examine under Wood’s Light (filtered UV) = infected hairs are fluorescent
159
X-Ray shows "champagne glass wrist"
Rickets (cupping/splaying/fraying of metaphysis)
160
Management of malnutrition in alert child with appetite
Ready-To-Use Therapeutic Food (RUTF) = peanut butter mixed with dried skimmed milk and vitamins
161
Nutrition deficiency in baby breastfed for long time
Vitamin D Deficiency = Nutritional Rickets (formula milk supplemented with vitamin D)
162
```
Oedema with distended abdomen
"Flaky-paint" skin rash
Depigmented hair (red in black kids)
```
Kwashiorkor
163
Parietal bones feel like pressing a ping-pong ball
Costochondral junctions palpable
Wrists widened in crawling
Ankles widened in walking
Rickets
164
Can Gillick-competent child refuse treatment by themself?
No - need parental responsibility
165
What age is capacity presumed?
16
166
What age can you refuse treatment?
18
167
Child with limp. X-Ray shows increased density in femoral head
Perthes Disease (disrupted blood supply to femoral head)
168
Delta wave in all QRS complexes
| Slanting upstroke of R wave
Wolff-Parkinson-White Syndrome = re-entry tachycardia due to accessory pathway between atria and ventricles
169
Low-set ears, cleft palate, murmur.
| With hypocalcaemia
Di George syndrome
170
5yo with fever + red tongue, flushed face, "pinhead" erythematous rash with sandpaper texture
(Tongue can have white coating on it)
Scarlet Fever
171
Child screaming in pain, drawing up knees to chest
Intussusception
172
Upslanting palpebral fissures and flat occiput
Down Syndrome
173
Baby who vomits a lot but is still hungry
Pyloric Stenosis
174
Neonate not passed meconium --> PR releases liquid stool
Hirschprung Disease
175
Child with small head, flattened philtrum and thin upper lip
Foetal Alcohol Syndrome
176
Gastroschisis vs Omphalocele
Gastroschisis = defect lateral to the umbilicus Omphalocele = defect in the umbilicus itself
177
Cephalohaematoma vs Caput Succedaneum
Cephalohaematoma = after birth --> do not cross suture lines (blood confined between skull and outer periosteum lining)
Caput Succedaneum = present at birth --> Crosses Suture lines (as blood on top of periosteum)
178
Pneumatosis intestinalis (gas in bowel wall)
Necrotizing Enterocolitis
179
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
William's Syndrome
180
Cry like meowing kitten
Microcephaly and small jaw
Eyes far apart
Cri du Chat Syndrome (chromosome 5p deletion syndrome)
181
Fever, malaise, muscular pain
| Unilateral earache/pain on eating
Mumps (earache = parotitis)
182
"Mum has a new boyfriend"
Child abuse
183
"Pins and needles" in hands
Panic attack
184
Mum unable to let go of your hand when you shake it
Myotonic Dystrophy
185
Hip pain in fat teenager
SUFE
186
Heart appears boot-shaped on CXR
Tetralogy of Fallot
187
Sandal-gap deformity (gap between big toe and 2nd toe)
Down Syndrome
188
Fever which hasn't responded to Calpol/ibuprofen
Think about Kawasaki Disease
189
Rectal bleeding and offensive stools
Meckel Diverticulum
- -> need technetium-99m pertechnetate scan: increased uptake by ectopic gastric mucosa in the bulge
- -> surgical resection if symptomatic
190
Murmur: continuous blowing noise heard below the clavicles
Venous hum (turbulent blood flow in the great veins returning to the heart)
191
Murmur: low-pitched sound heard at the lower left sternal edge
Still' murmur
192
Maculopapular rash, starts on face and then moves to whole body --> gone by 5 days!
Suboccipital and postauricular lymphadenopathy
Rubella
193
X-Ray shows flattening of femoral head
Perthes Disease
194
Knee pain after exercise -- can have intermittent swelling and locking of knee
Osteochondritis Dissecans
195
Continuous machinery murmur at the left upper sternal edge
Persistent Ductus Arteriosus
196
Systolic murmur below left clavicle and left scapula
Coarctation of Aorta
197
Murmur which varies with position
Innocent murmur
198
Bounding and collapsing pulse
Persistent Ductus Arteriosus
199
Severe coughing fits that make child blue
Whooping Cough
200
Posterior displacement of tongue
| Cleft palate
Pierre-Robin syndrome
201
Short palpebral fissure (opening of eyes)
Smooth philtrum (bump in the middle above upper lip)
Hypoplastic thin upper lip
Epicanthic fold (folds in medial corners of eyes)
Foetal Alcohol Syndrome
202
Fever, then blanching macular rash appears a few days later
| Rash starts on trunk and moves outward
Roseola Infantum (HHV6)
203
Symptoms start after switching to formula
Cow's Milk Protein Allergy
| -->need to switch to Extensive Hydrolysed Formula
204
Vomit after coughing fit
Whooping Cough (bordetella pertussis)
205
Most common childhood malignancy
ALL
206
Baby with cataract, deafness, cardiac abnormalities
Congenital Rubella Syndrome
207
Baby with saddle-shaped nose, notched incisors and deafness (sensorineural hearing loss)
Maternal Syphillis infection
208
Virus --> low platelets --> self-resolves in 12 weeks
Idiopathic Thrombocytopenic Purpura (ITP)
| -Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex.
209
When are AGPAR scores measured?
1, 5, 10mins
210
Lack of smell (anosmia) in a boy with delayed puberty
Kallman's syndrome = hypogonadotrophic hypogonadism (X-linked recessive)
211
Girl with delayed puberty (including primary amenorrhoea) and bilateral "marble-sized" groin swellings
Androgen Insensitivity = genetically male (46XY) but phenotypically female, as end-organs are resistant to testosterone
- undescended testes are the groin swellings!
- Treatment: remove testes and oestrogen therapy
212
Tricuspid valve leaflets are attached to the walls and septum of the right ventricle
Ebstein's anomaly = lithium in pregnancy
| --> tricuspid regurg and Wolff-Parkinson-White in 50%
213
Infectious rash which starts behind ears, but then spreads down body
Measles
214
Measles:
1. Most common complication
2. Most common cause of death
1. Otitis media
| 2. Pneumonia
215
Fixed split S2 sound
ASD (increased venous return overloading the right ventricle during inspiration and delaying closure of the pulmonary valve)
216
Pansystolic murmur
VSD
217
"Continuous murmur", heard loudest under left clavicle
PDA
218
Hip pain in hyperactive and short child
Perthes Disease
219
Neonate with concave abdomen and heart sounds displaced medially
Congenital diaphragmatic hernia
220
Multiloculated and heterogeneous cyst, above hyoid bone
Dermoid cyst
221
Compression: ventilation ratio in neonates
3:1
222
Right ventricle looks like right atrium
Ebstein's anomaly
223
Itchy bum, worse at night
Threadworm
224
Cut-off for complete recovery after febrile seizure (any longer and it is a complex seizure)
1 hour
225
Precocious puberty with both testes enlarged
Brain lesions releasing gonadotrophins
226
Precocious puberty with one testis enlarged
Gonadal tumour (e.g. sex cord-gonadal stromal tumour)
227
Precocious puberty with small testes
Adrenal cause (e.g. adrenal hyperplasia)
228
DDH more common in which gender?
Female
229
What do you use to screen for coronary aneurysm in Kawasaki - echo or coronary angiogram?
Echo
230
Broad-spectrum antibiotic used in <3 months
Cefotaxime
231
Tumour suppressor gene associated with Wilm's Tumour
WT1
232
Tumour suppressor gene associated with Burkitt Lymphoma
c-Myc
233
Bicuspid aortic valve in which genetic disease?
Turner Syndrome (causes aortic stenosis)
234
Girl with haemophilia, what other condition do they have?
Turner Syndrome - because haemophilia is X-linked recessive, so should only occur in males ... but can happen in Turner as just have one X chromosome!!
235
Treatment of pneumonia and influenza simultaneously
Co-amoxiclav
236
Genetic condition causing neonatal hypotonia
Prader-Willi
Neonatal hypotonia also:
- Sepsis
- Hypothyroidism
- Spinal Muscular Atrophy
237
Mode of inheritance of Prader-Willi
Inprinting (absence of paternal copy of PWS region on chromosome 15q11-13)
238
Hereditary condition associated with glomerulonephritis and hearing loss
Alport Syndrome
239
Muscle weakness after GI infection, which starts in legs and ascends
Guillain-Barre Syndrome (GI infection = campylobacter)
240
Scaphoid abdomen and bilious vomiting in newborn
Intestinal malrotation/volvulus (scaphoid = sucked in)
241
Calculation for corrected age of premature
Age - number of weeks born before 40
| -- use this for milestones up til 2yrs
242
Born before 28 weeks -- what special thing should you do with their vaccinations?
First set at hospital (apnoea risk)
243
Cause of mitral stenosis
Rheumatic Fever = vanishingly rare in UK
244
Indications for antibiotics in bacterial gastroenteritis
Sepsis
Extra-intestinal spread
Salmonella in under 6 months
245
Boy with hip/knee pain and limp -- also have groin pain, which is worse after exercise
Perthes Disease
246
First-line imaging in septic arthritis
Ultrasound (because X-Ray normal initially)
247
DDH more common in males or females?
6x more common in females! Also more common in left hip
248
Fever and resp rate >50 in child under 3
Pneumonia (normal resp rate 25-40)
249
Brushfield's spots
Spots on iris in Down's Syndrome
250
X-linked recessive disease with many CGG trinucleotide repeats on X chromosome
Fragile X Syndrome
251
GI infection --> swollen joints
Reactive Arthritis
252
ASO titres indicate what?
Streptococcal infection (ASO = anti-streptolysin O)
253
IBD + asymmetrical oligoarthritis
Enteropathic Arthritis
254
Jaundice with low birth weight, small heads, seizures (encephalitis)
```
Toxoplasmosis
Other (syphillis)
Rubella
CMV
Herpes simplex
```
255
Newborn with limb hypoplasia, microcephaly, cataracts and skin scarring
Foetal Varicella Syndrome
256
Haematuria after start COCP
Acute Intermittent Porphyria (AIP)
257
Haematuria after surgery
Rhabdomyolysis (long period of inertia, with pressure on muscles)
258
Treatment of meconium ileus
Gastrograffin Enema (diagnostic and therapeutic)
259
Newborn with microcytic anaemia, hepatosplenomegaly and failure to thrive
Beta thalassaemia (hepatosplenomegaly = intramedullary haematopoiesis)
260
Blood pressure higher in arm vs leg
Coarctation of Aorta
261
Shocked neonate -- can't palpate radial, brachial or femoral pulses
Critical aortic stenosis
262
Baby with lots of hiccups (also vomiting, failure to thrive)
GORD
263
Scrotal swelling that feels like "bag of worms"
Varicocele
264
Acute scrotal pain --> elevating testes relieves the pain
Epididymo-Orchitis
265
Sore throat with grey coating on tonsils/pharynx
Diphtheria
266
Sore throat --> GP prescribes amoxicillin --> widespread maculopapular rash
Infectious Mononucleosis
267
Flu-like illness --> acute-onet flaccid paralysis in a single limb
Polio
268
Febrile illness with "painful purple rash on legs"
Erythema nodosum in TB
269
Widespread painless lymphadenopathy
Lymphoma
270
Autoantibodies against this in ITP
IIb/IIIa glycoprotein on platelets
271
How much dehydration (% weight loss) needed to get dry mucous membranes and reduced urine?
6-9%
| >10% = haemodynamically compromised
272
Isolated hyponatraemia in pneumonia
SIADH
273
Type of JIA with ANA +ve and anterior uveitis
Oligoarthritis
274
Type of JIA with Rheumatoid Factor +ve
Polyarticular (seen in older kids)
275
Type of JIA with nail changes = dystrophy (thickened), pitting and onycholysis
Psoriatic
276
Normal growth until 1yr, then rapidly fall off
| -associated with doll-like face and neonatal hypoglycaemia/jaundice
Growth Hormone Deficiency
277
Ejection systolic murmur that radiates to back
Pulmonary Stenosis
278
First-line investigation in delayed puberty in a girl
Gonadotrophins
279
Delayed puberty and can't smell
Kallman Syndrome = decreased gonadotrophin-releasing hormone
280
If child already on phenytoin for epilepsy, what should be used instead in status epilepticus?
Phenobarbitone
281
Testicular pain -- "blue dot" on scrotum when transilluminated
Torsion of the hydatid of Morgagni (blue dot = torted hydatid)
282
- Daily seizures, with recurrent status epilepticus
| - EEG: slow spike-waves with many abnormalities
Lennox-Gastaut Epilepsy
283
- Twitching on one side of face (at night)
| - EEG: high-amplitude spikes in left centrotemporal region
Rolandic seizures
284
Sore throat --> scaly papules on torso and limbs
Guttate Psoriasis
285
Sore throat --> red rash that feels like goose-pimples
Scarlet Fever
286
Imaging of choice in brain tumours
MRI
287
Most common cause of erythema multiforme
Herpes Simplex
288
Red nodules on legs = symmetrical, tender, hot
Erythema Nodosum = Group A Strep, COCP, IBD
289
Anticonvulsant causing hair loss
Sodium Valproate
290
Anticonvulsant which induces hepatic enzymes
Carbamazepine
291
Child with bone pain/limp -- always look out for...
Leukaemia
292
Undergoing leukaemia treatment --> hyperkalaemia, high phosphate, gout, raised U&Es...
Tumour Lysis Syndrome (cancer cells break down)
| -->need hydration and allopurinol
293
"Prominent forehead" and jaundice
Beta thalassaemia
294
- High arched palate
- Arm span > height
- Myopia/lens dislocation
Marfan's Syndrome
295
"Bamboo-spine" on X-Ray
Enthesitis-related arthritis
296
Bounding peripheral pulses
PDA
297
Newborn with retinitis and periventricular calcifications on CT
CMV
298
Newborn with chorioretinitis, hydrocephalus and tram-like calcifications on CT
Toxoplasmosis
299
Congenital infection causing hydrops fetalis
Parvovirus
300
"Blistering rash" in newborn (with jaundice and hepatomegaly)
Herpes Simplex
301
Treatment of Scarlet Fever
10 days penicillin
302
Mode of inheritance in retinoblastoma
Autosomal dominant (chr 13)
303
Type of Polycystic Kidney Disease which presents in newborns vs in teens
Newborns: autosomal recessive (oligohydramnios, pulmonary hypoplasia)
Teens: autosomal dominant (Berry aneurysm, mitral prolapse)
304
Mechanism of cleft lip
Medial nasal and maxillary processes do not fuse during development
305
Infection causing acute demyelinating encephalitis
Measles
306
Violaceous rash on eyelids
| Red papules on finger joints
Dermatomyositis
- Violaceous = heliotrope rash
- Red papules = Gottron's papules
307
Defect in alpha-ketoacid dehydrogenase
Maple Syrup Urine Disease
308
Itching on palms/soles -- see burrows in finger webs
Scabies (sarcoptes scabei)
309
Treatment of scabies
Permethrin
310
Transilluminating cyst, found in posterior triangle
Cystic hygroma
311
Non-transilluminating cyst, found in anterior triangle
Brachial cyst
312
Abnormal opening of urethra on ventral surface of penis
Hypospadias
313
Total fluid requirement calculation
Maintenance + deficit + ongoing losses
314
Fluid deficit calculation
% dehydration x weight x 10
