Paeds Flashcards
(164 cards)
1
Q
DDH management?
A
Most unstable will spontaneously stabilise by 3-6 weeks
Pavlik harness (dynamic flexion-abduction orthosis) in those younger than 5 months
Surgery if older
2
Q
DDH RF?
A
female sex: 6 times greater risk breech presentation positive family history firstborn children oligohydramnios birth weight > 5 kg congenital calcaneovalgus foot deformity
3
Q
DDH Ix?
A
Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head
US to confirm diagnosis
4
Q
Features of pataus
A
Trisomy 13 Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions
5
Q
Features of Edwards
A
Trisomy 18 Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers
6
Q
Features of fragile x
A
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism Hypotonia Autism Mitral valve prolapse
7
Q
Features of noonans
A
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
8
Q
Features of Pierre-robin syndrome
A
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
9
Q
Features of prader Willi
A
Hypotonia
Hypogonadism
Obesity
10
Q
Features of william’s syndrome
A
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
11
Q
A 6-year-old girl presents with her mother who notices that her daughter often gets out of breath when climbing the stairs at home. She explains that she has been developing well through her childhood but is concerned as she is unable to keep up with her friends. On examination, small multiple bruises, of varying ages are seen on both her lower legs. She is afebrile and otherwise fit and well. Cardiac examination reveals a soft systolic murmur heard on the left sternal edge. Examination of her abdomen reveals a palpable mass in the left and right hypochondriac regions.
Diagnosis?
A
ALL
12
Q
A 9-month-old baby is seen on the ward after arriving into the emergency department last night with seizures. The parents show you a video of the contractions which appear very similar to colic. They also report a change in her development and are concerned she is struggling. You arrange an EEG which shows hypsarrhythmia and a MRI head which is abnormal. What is the most likely diagnosis?
A
West syndrome
13
Q
West syndrome usual age?
Features?
Ix?
Mx?
A
4-8 months
‘Salaam attacks’ - flexion of the head, trunk and arms -> extension of the arms [last 1-2 sections but repeat many times]
-progressive mental handicap
EEG - shows hypsarrythmia
CT- diffuse / localised brain disease Eg Tuberous sclerosis
Mx
Poor prognosis
Vigabatrin / ACTH can be used
14
Q
First sign of puberty in boys
A
Increased testicular volume
15
Q
Children age of urinary continence
A
3-4 yrs
16
Q
Mx of nocturnal enuresis ? In >7/<7?
A
Look for triggers - constipation, diabetes, UTI
Fluid intake
Diet and toileting behaviour
Reward systems
Enuresis alarm is first line in >7
Desmopressin in <7
17
Q
Usual age of wilms tumour? Features? Associations? Mx? Histological features/
A
<5 - usual age of 3
Abdo mass - 95% unilateral Painless haematuria Flank pain Anorexia / fever Mets in 20% (usually lung)
Associations
WAGR syndrome - aniridia, GU malformations, mental Retardation
Loss of WT1 gene
MX
Nephrectomy
Chemo
Radiotherapy if advance
Epithelial tubules, immature glomerular structures, stroma with spindle cells, small cell blastomatous tissue
18
Q
3 month milestones
A
Reaches for object
Hods rattle briefly
Visually alert
Fixes and follows
19
Q
6 month milestones
A
Hold in palmar grasp
Pass objects between hands
Looks in every direction
20
Q
9 months
Motor
A
Points with finger
Early pincer
21
Q
12 months motor
A
Good pincer grip
Bangs toys together
22
Q
Brick milestones
A
15 months - tower of 2
18 - 3
2yrs - 6
3yrs - 9
23
Q
Drawing milestones
A
18months - circular scribble 2- copies vertical line 3- copies circle 4- copies cross 5- copies square and triangle
24
Q
Book milestones
A
15months - looks at book / pats page
18months - turns page several at a time
2 - turns page 1 at a time
25
Is hand preference before 12 months normal?
No and may indicate cerebral palsy
26
First line in all babies with jaundice in first 24hours of life?
Measure and record serum bilirubin
27
What do you do if jaundice present after 2 weeks of birth?
```
Jaundice screen
conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
direct antiglobulin test (Coombs' test)
TFTs
FBC and blood film
urine for MC&S and reducing sugars
U&Es and LFTs
```
28
What does the Coombs test test for?
Autoimmune haemolytic anaemia
29
Features of chondromalacia patellae
Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
30
Features of osteochondritis dissecans
Pain after exercise
| Intermittent swelling and locking
31
Features of patella tendinitis
Athletic teen age boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
32
When is the neonatal blood spot screening test done? What conditions are screened for?
5-9 days of life
congenital hypothyroidism
cystic fibrosis
sickle cell disease
```
phenylketonuria
medium chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
```
33
Vaccines at birth ?
BCG / hepB if risk factors
34
Vaccines at 2 months
6 in 1 - (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Oral rotavirus vaccine
PCV
Men B
35
Vaccines at 3 months
'6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Oral rotavirus vaccine
36
Vaccine at 4 months
'6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
PCV
Men B
37
Vaccine at 1 year
H ib/Men C
MMR
PCV
Men B
38
Vaccine at 3-4 yrs?
'4-in-1 pre-school booster' (diphtheria, tetanus, whooping cough and polio)
MMR
39
Vaccine between 12-18
HPV - girls
3 in 1 teenage booster - tetanus, diphtheria and polio
Men ACWY
40
Main changes to vaccination schedule
Men C no longer given at 12 weeks
41
A mother brings her 2-year-old son to surgery. For the past two weeks he has been complaining of an itchy bottom. He is otherwise well and clinical examination including that of the perianal area is unremarkable. What is the most appropriate management?
Hygiene measures + single dose of mebendazole for the family
42
RF for sudden infant death syndrome?
```
prematurity
parental smoking
hyperthermia (e.g. over-wrapping)
putting the baby to sleep prone
male sex
multiple births
bottle feeding
social classes IV and V
maternal drug use
incidence increases in winter
```
43
Primary secondary tertiary prevention of accidents
1- speed limits, teaching road saftey
2- wearing seatbelts
3- teaching first aid
44
Mx of intussusseption ?
the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema
if this fails, or the child has signs of peritonitis, surgery is performed
45
What scoring system used to asses health of a newborn baby
Apgar score
Pulse, resp effort, colour, muscle tone, reflex irritability
0-3 - very low
4-6 moderate
7-10 good
46
Diagnostic ix in RSV bronciolitis? Mx?
I mmunofluorescence of nasopharyngeal secretions may show RSV
humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%
nasogastric feeding may be need if children cannot take enough fluid/feed by mouth
suction is sometimes used for excessive upper airway secretions
47
Diagnosis of fragile x?
CVS / amniocentesis
Analysis of CTG repeats using restriction endonuclease digestion and southern blot analysis
48
How do you resuscitate a newborn?
newborn compression:ventilation ratio?
1. Dry baby and maintain temperature
2. Assess tone, respiratory rate, heart rate
3. If gasping or not breathing give 5 ventilation breaths
4. Reassess (chest movements)
5. If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1
49
What SaO2 before you give O2
<92%
50
Mx of eczema ?
| Severe?
Avoid irritants
Topical emollients - large amounts
-topical steroids can be added and used 30 mins after emoillent
Severe - wet wraps and oral cyclosporin
51
Causes of obesity in children
```
growth hormone deficiency
hypothyroidism
Down's syndrome
Cushing's syndrome
Prader-Willi syndrome
```
52
Consequences of obesity in children
orthopaedic problems: slipped upper femoral epiphyses, Blount's disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
psychological consequences: poor self-esteem, bullying
sleep apnoea
benign intracranial hypertension
long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
53
Squint called if eye points to? Nose
Temporally
Superior
Inferior
the nose: esotropia
temporally: exotropia
superiorly: hypertropia
inferiorly: hypotropia
54
Two types of strabismus? Which is rare?
Diagnosis of squint?
Mx?
Concomitant
Due to imbalance of extraocular muscles
Usually convergent, some divergent
Paralytic (rare)
Corneal light reflection test - hold light source 30cm away and see if light reflects symmetrically
Cover test - identify nature of squint
Mx
Eye patches — prevent amblyopia
Referral to secondary care
55
A 2-month-old boy is brought to the afternoon surgery by his mother. Since the morning he has been taking reduced feeds and has been 'not his usual self'. On examination the baby appears well but has a temperature of 38.7ºC. What is the most appropriate management?
Admit to hospital
| Temp >38 is a ‘red’ feature in <3months
56
Cause of hand foot and mouth? Mx?
Coxsackie
Hydration and analgesia
Reassure no link to disease in cattle
Do NOT need to be excluded from school (unless they feel unwell obvs)
57
When should you offer pharmacological therapy to infants with GORD? What should you give?
```
H2RA or PPI
Those who do not respond to alginates / thickened feed and have
-feeding difficulties
-distressed behaviour
-faltering growth
```
58
Why would you not try metoclopramide without specialist advice in GORD infants
Side effects including dystocia
59
How do you diagnosis VUR?
What is the investigation of choice to look for renal scarring in a child with vesicoureteric reflux?
Micturating cystourethrogram
Radionuclide scan using dimercaptosuccinic acid (DMSA)
60
VUR pathophysiology
Laterally displaced ureters - more perpendicular angle
->shortened inramural course of ureter
Vesicouretic junction cannot function adequately
61
Grades of VUR
I Reflux into the ureter only, no dilatation
II Reflux into the renal pelvis on micturition, no dilatation
III Mild/moderate dilatation of the ureter, renal pelvis and calyces
IV Dilation of the renal pelvis and calyces with moderate ureteral
tortuosity
V Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity
62
Sx of NEC?
| Seen on abdo X-ray of NEC?
feeding intolerance
abdominal distension
bloody stools
-> quickly progress to abdominal discolouration, perforation and peritonitis.
dilated bowel loops (often asymmetrical in distribution)
bowel wall oedema
pneumatosis intestinalis (intramural gas)
portal venous gas
pneumoperitoneum resulting from perforation
air both inside and outside of the bowel wall (Rigler sign)
air outlining the falciform ligament (football sign)
63
What is a cephalohematoma? Complication? How long dies it take to resolve?
Swelling on newborns head usually in parietal region
-develops several hours after delivery
Jaundice
Up to 3 months
64
What is a caput succedaneum ? Where is common? How long to resolve?
Swelling on head of newborn
Present AT birth
Usually forms over vertex and crosses suture lines
Resolves within days
65
Gross motor milestones
3 months Little or no head lag on being pulled to sit
Lying on abdomen, good head control
Held sitting, lumbar curve
```
6 months Lying on abdomen, arms extended
Lying on back, lifts and grasps feet
Pulls self to sitting
Held sitting, back straight
Rolls front to back
```
7-8 months Sits without support (Refer at 12 months)
9 months Pulls to standing
Crawls
12 months Cruises
Walks with one hand held
13-15 months Walks unsupported (Refer at 18 months)
18 months Squats to pick up a toy
2 years Runs
Walks upstairs and downstairs holding on to rail
3 years Rides a tricycle using pedals
Walks up stairs without holding on to rail
4 years Hops on one leg
66
A 3-year-old boy is brought into the emergency department with cough and noisy breathing following a 3-day history of coryzal symptoms. On examination, he is afebrile but has harsh vibrating noise on inspiration, intercostal recession and a cough. He is systemically well.
What is the most likely causative organism?
Parainfluenza
[The harsh vibrating noise on inspiration is a classic description of stridor. A history of stridor and cough should point towards a diagnosis of croup. The fact that the child is systemically well almost rules out epiglottis.]
67
When would you admit a child with croup?
Moderate - severe or
<6 months of age
known upper airway abnormalities (e.g. Laryngomalacia, Down's syndrome)
uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
68
Mx of croup? Emergency treatment?
Management
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
prednisolone is an alternative if dexamethasone is not available
Emergency treatment
high-flow oxygen
nebulised adrenaline
69
Name of meningitis B vaccination? When are the doses? Who else can receive?
Baxsero
2month, 4month, 1yr
High risk of meningococcal disease
- aspenia
- splenic dysfunction
- complement disorder
70
What would indicate that further add on therapy is required for asthma with use of a SABA ?
Need to use it more than 3 times per week
71
Asthma pathway in kids
1- low dose of inhaled corticosteroid and SABA
2
<5 Add Leukotrine receptor antagonist
>5 add LABA
3
<5 - refer
>5
-no response to LABA - stop LABA and increase dose of ICS to low-dose
-response to LABA - continue LABA and increase ICS to low-dose. OR add LRA
4
Increase ICS OR add 4th drug eg theophylline
And refer
72
A 15-year-old boy from Germany presents with chronic diarrhoea for the past 9 months. He also reports foul smelling stools. He has a past medical history of recurrent chest infections from a young age and diabetes mellitus.
What is the most likely diagnosis? Why?
CF -> pancreatic insufficiency -> steatorrhoea from fat malabsorption
73
Presentation of CF ? Other features
neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
malabsorption (30%): steatorrhoea, failure to thrive
other features (10%): liver disease
```
short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility
```
74
A 10-year-old boy is found to have haemophilia A following investigation for a haemoarthrosis. Which one of his relatives is most likely to have the condition?
Mothers brother
X-linked recessive
-only seen in males
-male to male transmission not seen
75
Features of cows milk intolerance ? Ix?
```
egurgitation and vomiting
diarrhoea
urticaria, atopic eczema
'colic' symptoms: irritability, crying
wheeze, chronic cough
rarely angioedema and anaphylaxis may occur
```
Often clinical - improvement with cows milk protein elimination
Skin prick test
Total IgE and specific IgE (RAST) for cows milk protein
76
Management of cows milk protein intolerance if failure to thrive? Formulas fed? Breast fed? Usual prognosis?
Refer
Management if formula-fed
extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
around 10% of infants are also intolerant to soya milk
Management if breast-fed
continue breastfeeding
eliminate cow's milk protein from maternal diet
use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
Usually resolves by age 1-2
77
What is meant by rocker bottom feet? Seen in?
Bottom of feet look like bottom of a rocking chair
Edwards trisomy 18
78
Most common cause of constipation in children? Others?
Idiopathic
```
Dehydration
Low fibre
Medications - opiates
Anal fissure
Over enthusiastic potty training
Hypothyroid
Hirschprungs
Hypercalcaemia
Learning difficulties
```
79
Constipation red flags ? Amber?
```
Reported from birth or within first few weeks
Passage of meconium >48hrs after birth
‘Ribbon stools’
Weakness in legs / locomotor delay
Distension
```
Faltering growth
Evidence which may suggest maltreatment
80
What do you need to do before commencing constipation treatment? Signs?
Assess for signs of faecal impactation
- sx of severe constipation
- overflow spoiling
- palpable mass in abdo
81
Management of faecal impactation
1- Movicol (osmotic laxative) using an escalating dose [or lactulose]
2- add a stimulant laxative if no disimpactation in 2 weeks Eg senna
Inform patients that treatment may cause an initial increase in Sx of soiling and abdo pain
82
Maintenance therapy of constipation?
1- movicol paediatric plain
2- add a stimulant if no response
Continue medication for several weeks after improvement and reduce dose slowly
83
Mx of constipation in infants if breast fed? Bottle fed? Being weaned?
Breast - constipation is unusual -> consider organic cause
Bottle - give extra water between feeds, abdo massage and bicycling infants legs
Weaned - extra water, diluted fruit juice and fruits
-could add lactulose
84
Features suggestive of hypernatraemic dehydration ?
```
Jittery movements
Increased muscle tone
Hypperreflexia
Convulsions
Drowsiness / coma
```
85
What signs would lead you to think a patient was dehydrated -> shock ?
Decreased consciousness
Cold extremities
Pale / mottled skin
```
Tachycardia
Tachypnea
Weak peripheral pulses
Prolonged cap refil
Hypotension
```
86
RFS for dehydration
```
Under 1yr
Low birth weight
6 or more diarrhoeal in past 24hrs
3 or more vomiting in past 24 hrs
Stopped feeding
Signs of malnutrition
```
87
Indications to do a stool sample in diarrhoea ?
Recent foreign travel
Not improved by day 7
Uncertain diagnosis
Suspect septicaemia
Blood/mucus in stool
Immunocompromised
88
Mx of diarrhoea ? If dehydration suspected? If shock suspected?
Continue feeding
Encourage fluid intake
Discourage frui juice / carbonated
Dehydration
- 50ml/kg of ORS over 4 hours
- continue breast feeding
- supplement normal feeds with fluids
Shock -> admit for IV. Rehydration
89
A 14-month-old child presents to you in primary care after a convulsion. The parents are very distressed as an uncle has epilepsy and they are concerned their daughter may have it. The child appears alert with a temperature of 38.4C, something which the parents believe she has had for four days. Previously, calpol has helped bring this down from a high of 40.7ºC. You also note a pink, maculopapular rash on the chest with minimal spread to the limbs, something which mum says she noticed this morning. The child has been feeding but has had some diarrhoea and you feel some enlarged glands on the back of her head. There is no rash in the mouth.
```
name of bug?
name of disease?
incubation period?
usual age?
usual features?
complications
```
Herpes virus 6 causing
roseola infantum
5-15 days
6months-2years
Features
high fever: lasting a few days, followed by a
maculopapular rash
febrile convulsions occur in around 10-15%
diarrhoea and cough are also commonly seen
Other possible consequences of HHV6 infection
aseptic meningitis
hepatitis
90
what causes 'slapped cheek' syndrome? other features?
parovirus b19
Lethargy, fever, headache
'Slapped-cheek' rash spreading to proximal arms and extensor surfaces
91
A 2-year-old boy is seen by his GP with an enlarging neck swelling that has been present for the past year. On examination you note a smooth midline lesion which is round and located just below the hyoid bone. It measures 2.5 cm x 2 cm and rises on protrusion of the tongue.
```
What is the most likely diagnosis?
What is this from?
complications?
sx?
Ix?
```
thyroglossal cyst
remnant of the thyroglossal duct (fills with fluid)
infection of respt tract can infect cyst
- >bigger
- >burst
thyroid gland may not migrate to position properly and remain in cyst
sx
painless swelling in neck
-moves up when stick out tongue
-pain if infected
Ix
- us / ct and confirmed with needle biopsy
- TFT
Mx
- surgical removal
- abx if infections
92
type of vaccine is rotavirus?
When do you get it?
When do you need the first dose / second dose by and why?
oral, live attenuated
2 doses - 8, 12 weeks
first dose before 14+6wks
second by 23+6
due to risk of intussusception
93
You are an F1 doctor working in the dermatology department when a 9-year-old boy arrives with his parents one morning for an elective procedure to remove a large mole on his back. The mole itself is harmless but his parents would like it to be removed for cosmetic purposes. In the notes, the consultant who recommended the procedure a couple of weeks ago noted that the parents consented to the procedure and the child appeared willing to have the mole removed as well. Today, a nurse informs you the child appears distressed and says he does not want to have the operation as the mole does not bother him, you see the patient yourself who confirms what the nurse has told you. What is the best immediate action?
inform your consultant and recommend that they cancel the procedure
94
```
Mx of UTI in...
Infant?
>3months with upper UTI?
>3months with lower UTI?
When would you give antibiotic prophylaxis?
```
infant - refer
>3/12 upper
consider admission OR
oral Abx eg co-amoxiclav / cephlasporin for 7-10 days
lower
oral abx for 3 days eg rimethoprim, nitrofurantoin, cephalosporin or amoxicillin
-bring back if unwell after 48 hrs
prophylaxis in recurrent UTIs
95
Autosomal dominant conditions tend to be? recessive? exceptions?>
Autosomal recessive conditions are 'metabolic' - exceptions: inherited ataxias
Autosomal dominant conditions are 'structural' - exceptions: Gilbert's, hyperlipidaemia type II
96
Child life support algorithm
```
unresponsive?
shout for help
open airway
look, listen, feel for breathing
give 5 rescue breaths
check for signs of circulation
15 chest compressions:2 rescue breaths (see above)
```
97
You see a 6 week-old baby boy for his routine baby check and note a small, soft, umbilical hernia on examination. What should you do?
Watch and wait
[Small umbilical hernias are common in babies and tend to resolve by 12 months of age. Parents should be reassured no treatment is usually required but to be aware of the signs of obstruction or strangulation such as vomiting, pain and being unable to push the hernia in - this is rare in infants. Advise the parents to present the child at around 2 years of age if the hernia is still present to arrange referral to a surgeon. Attempts to treat the hernia by strapping or taping things over the area are not helpful and can irritate the skin]
98
most common causes of conductive hearing impairment in children?
sensorineural?
Conductive
secretory otitis media
Down's syndrome*
```
Sensorineural
congenital infection e.g. rubella
acquired - meningitis, head injury
cerebral palsy
perinatal insult
```
99
ADHD characteristic sx?
extreme restlessness
poor concentration
uncontrolled activity
impulsiveness
100
ADHD mx?
specialist assessment
Dont need to change food unless there is a shown link
Methylphenidate
Amoxetine
101
Side effects of ritalin? what should be monitored?
abdo pain
nausea
dyspepsia
Growth, BP / pulse every 6 months
102
A male infant is born prematurely at 34 weeks gestation by emergency cesarean section. He initially appears to be stable. However, over the ensuing 24 hours he develops worsening neurological function. What is most likely to have occurred?
complications?
intraventricular hemorrhage
blood may clot and occlude CSF flow -> hydrocephalus
103
Developmental referral points
Doesnt smile at 10 weeks
Cant sit unsupported at 12 months
cant walk at 18 months
104
You are called to the post natal ward to review an 8 hour old baby born by elective caesarian section at 39 weeks gestation. After reading the case notes you discover the use of maternal labetalol for high blood pressure. On examination the baby appears jittery and hypotonic.
Likely diagnosis?
What is the most appropriate next step?
What are the risk factors for this?
Hypoglycaemia
measure blood glucose
```
Causes
maternal diabetes mellitus
prematurity
IUGR
hypothermia
neonatal sepsis
inborn errors of metabolism
nesidioblastosis
Beckwith-Wiedemann syndrome
```
105
Features of growing pains
```
Not present at start of day
No limp
no limitation of activity
systemically well
normal physical exam
normal motor milestones
intermittent Sx which can be worse on vigorous activity
```
106
Li-fraumeni syndrome inheritance? Gene affected? common features? Diagnosis?
Autosomal dominant
Consists of germline mutations to p53 tumour suppressor gene
High incidence of malignancies particularly sarcomas and leukaemias
Diagnosed when:
* Individual develops sarcoma under 45 years
* First degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age
107
BRCA1/2 chromosome? cancer risk where?
Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)
Linked to developing breast cancer (60%) risk.
Associated risk of developing ovarian cancer (55% with BRCA 1 and 25% with BRCA 2).
108
lynch syndrome inheritance? risk of? What criteria can be used?
Autosomal dominant
colonic cancer and endometrial cancer at young age
High risk individuals may be identified using the Amsterdam criteria
Amsterdam criteria
Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two.
Two successive affected generations.
One or more colon cancers diagnosed under age 50 years.
Familial adenomatous polyposis (FAP) has been excluded.
109
3 features for diagnosis of autism
global impairment of language and communication
impairment of social relationships
ritualistic and compulsive phenomena
110
```
Whooping cough
incubation period ?
features?
diagnosis?
Mx?
Complications?
```
10-15 days
Features
2-3 days of coryzal
->Coghing bouts which may end in vomiting
-inspiratory whoop
-persitent coughing may -> subconjuctival haemorhhage
lymphocytosis
Diagnosis
Per nala swab f
PCR and serology
Mx
Oral macrolide Eg erythromycin if onset of cough is within 21 days
```
Complications
subconjunctival haemorrhage
pneumona
bronchiectasis
seizures
```
111
features of mesenteric adenitis? mx?
URTI and central abdo pain
conservative
can give Abx
112
Features of malrotation? seen in?
what can complicate it?
diagnosis?
treatment?
high caecum at midline
exophalos, diapharmatic hernia, duodenal atresia
volvulus -> bile stained vomiting
diagnosis
upper GI contrast study and USS
Mx
Laparotomy
volvulus -> ladds procedure
113
presentation of oesophageal atresia? association?
chocking and cyanotic spells
VACTERL
vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities
114
Mx of meconium ileus?
1- PR contrast may dislodge
2- NG acetylcysteine
3- surgery
115
Presentation of biliary atresia ? type of bilirubin?
| mx? Aim of MX?
jaundice >14 days
Conjugated bilirubin
Kasai procedure (Roux-en-Y portojejunostomy )
Aim is to avoid liver transplant but most will end up with one
116
usual location for hypospadias? Mx? What else to remember before MX?
distal ventral surface of penis
surgical correction before 2
No circumcision as foreskin may be used during procedure
117
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febrile convulsion recurrence risk?
When do they usually occur?
how long?
Type of seizure?
Risk of epilepsy ?
```
30%
Occur in viral infection as temp rises quickly
Usually brief - <5mins
may be generalised tonic / tonic-clonic
1% risk of developing epilepsy
118
complications of undescended testi?
Intervention when?
infertility
torsion
testicular Ca
Psychological
Referral from 3 months and see a surgeon by 6 months for orchidopexy (usually around 1yr)
119
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Retinoblastoma is the most common ocular malignancy in children.
Gene responsible?
features?
Mx?
prognosis?
```
loss of retinoblastoma supressor gene on chromosome 13
```
features
Absent red reflex - white pupil
Strabismus
Visual problems
Mx
Enucleation
-OR external beam radiation / chemo / photocoagulation
```
90% survive into adulthood
120
How to escalate asthma attack management in hospital? What are these guidelines called?
SIGN guidelines
1. Oxygen
2. Salbutamol nebulisers
3. Ipratropium bromide nebulisers
4. Hydrocortisone IV OR Oral Prednisolone
5. Magnesium Sulfate IV
6. Aminophylline/ IV salbutamol
121
MMR CIs? How long after MMR could you try for pregnancy
severe immunosuppression
allergy to neomycin
children who have received another live vaccine by injection within 4 weeks
pregnancy should be avoided for at least 1 month following vaccination
immunoglobulin therapy within the past 3 months (there may be no immune response to the measles vaccine if antibodies are present)
122
Most common headache in children? Diagnosis?
migrane without aura
```
>5 headaches fulfilling
A) lasts 4-72 hours
B) at least 2 of
-bilateral or unilateral frontal / temporal
-pulsating
-mosterate to severe intensity
-aggravated by routine / physical activity
C) 1 of these accompanies
-Nausea / vomiting
- photophobia / phonobobia
```
123
Acute mx of migrane in kids ?
Ibuprofen
triptans may be used in >12yrs
-sumatriptan nasal spray
(oral not liscenced for <18)
124
Diagnosis of Tension type headache in kids
A At least 10 previous headache episodes fulfilling features B to D
B Headache lasting from 30 minutes to 7 days
C At least two of the following pain characteristics:
pressing/tightening (non/pulsating) quality
mild or moderate intensity (may inhibit but does not prohibit activity)
bilateral location
no aggravation by routine physical activity
D Both of the following:
no nausea or vomiting
photophobia and phonophobia, or one, but not the other is present
125
Where is .a branchial cyst usually located?
| usual consistency?
anterior to SCM - near angle of mandible
Similar consistency to water -> anechoic on USS
[unless infected]
126
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minimal change disease pathophysiology?
features?
seen on electron microscopy ?
management?
prognosis?
```
T cell mediated damage to GBM -> anion loss -> electrostatic change -> increased glomerular permeability to albumin
nephrotic syndrome
Normotension
selective proteinuria (albumin)
fusion of podocytes on electron microscopy
80% respond to steroids
cyclophosphamide for resistant cases
1/3 - 1 episode
1/3 have infrequent relapses
1/3 have frequent relapses
127
What features may indicate a upper UTI over a lower?
termp >38
| Loin pain / tenderness
128
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Usual cause of bronchiolitis?
Why don't newborns usually get it?
When would it be more serious?
Ix?
Mx?
```
RSV
Maternal IgG
Premature - bronchopulmonary displasia
CHD
Cystic fibrosis
Immunflourescnce of nasopharyngeal secretions may show RSV
Supportive
- O2 if SaO2 is <92%
- NG feeding if too little taken by mouth
- suction for upper airway secretions
129
Traid of shaken baby syndrome?
retinal haemorrhages
subdural haematoma
encephalopathy
130
A 36-year-old female, who is otherwise well, undergoes a planned cesarean section due to fetal macrosomia. An infant weighing 4.4kg is born who has a noticeably large tongue which obstructs his airway. Shortly after intervention, he becomes hypoglycemic
Diagnosis?
Beckwith-Wiedemann syndrome
| is characterised by fetal macrosomia, a large tongue (macroglossia) and the infant becoming hypoglycemic.
131
Presentation of congenital hypothyroidism
large tongue
hypotonia
umbilical hernia
132
Complications of measles ?
What may occur 1-2 weeks after?
5-10 years after?
```
D+V ->dehydration
Otitis media
conjuntivitis
laryngitis
pneumonia
febrile seizures
```
encephalitis
Subacute sclerosing panencephalitis
133
```
Conjunctivitis
Fifth disease
Roseola
Infectious mononucleosis
Head lice
Threadworms
```
School exclusion?
none
134
scarlet fever exclusion?
24hrs after abx
135
Measles school exclusion?
4 days from onset of rash
136
Mumps school exclusion?
5 days from onset of swollen glands
137
whooping cough school exclusion?
5 days after commensing abx
138
rubella school exclusion?
6 days from onset of rash
139
chickenpox / iimpetigo school exclusion?
until lesions crusted oer
140
scabies school exclusion?
until treated
141
influenza school exclusion?
until recovered
142
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
diagnosis?
patellar tendonitis
143
Medial knee pain due to lateral subluxation of the patella
Knee may give way
diagnosis ?
patellar subluxation
144
pain after exercise
intermittent swelling and locking
diagnosis?
osteochondritis dissecans
145
A 1-year-old child is brought into your surgery for a routine examination. His parents are worried that he is too small for his age. On further questioning his parents explain he is difficult to feed, and eats a milk and soft food based diet. He is otherwise asymptomatic.
On general examination he looks healthy but is on the 3rd centile for weight. Cardiac examination reveals a systolic murmur in the pulmonary area and a fixed splitting to the second heart sound. Pulses are all palpable and within normal range
What is the most likely diagnosis?
ASD
146
A 10-month-old boy is brought to surgery as his mother has noticed some noisy breathing. For the past 2-3 days he has had a runny nose and has felt hot. There is no past medical history of note and he is currently feeding satisfactorily. On examination temperature is 37.6ºC, respiratory rate is 36 / min and there is no intercostal recession noted. Chest auscultation reveals a mild expiratory wheeze bilaterally with the occasional fine crackle. What is the most appropriate management?
Paracetamol + review
This is bronchiolitis
147
What is west syndrome also called?
infantile spams
148
Difference between chest Xray of RDS and transient tachypnea of the newborn?
RDS - diffuse ground glass lungs with low volumes and a bell shaped thorax
TTN - Heart failure type pattern Eg interstitial odema and pleural effusions
149
Difference between TTN and CHD on xray? Other way of distinguishing
TTN - normal heart size
rapid resolution of failure type pattern within days
150
RDS RF
neonante
50% of infants born at 26-28 weeks
25% of infants born at 30-31 weeks
Male sex
diabetic mothers
C section
second born of premature twins
151
Usual location of eczema in infants?
Younger children?
Older children ?
in infants the face and trunk are often affected
in younger children eczema often occurs on the extensor surfaces
in older children a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
152
You see a worried mum with her 6 month old baby boy. She is concerned that his skull shape is not normal. His development and birth have been normal and there are no conditions in the family. On examination his head circumference is at the 40th centile with his height and weight at the 30th centile. His occiput is flattened on the left, his left ear mildly protruding forward and his left forehead more prominent than the right. No other abnormality is detected.
Diagnosis?
What is the most appropriate management?
plagiocephaly
reassurance
[Plagiocephaly is more common since there have been campaigns to encourage babies to sleep on their back to reduce the risk of sudden infant death syndrome (SIDS). Plagiocephaly is a skull deformity producing unilateral occipital flattening, which pushes the ipsilateral forehead ear forwards producing a 'parrallelogram' appearance. The vast majority improve by age 3-5 due to the adoption of a more upright posture. Helmets are not usually recommended as there was no significant difference between groups in a randomised controlled trial. Turning the cot around may help the child look the other way and take the pressure off the one side. Other simple methods include giving the baby time on their tummy during the day, supervised supported sitting during the day, and moving toys/ mobiles around in the cot to change the focus of attention. Ensure all advice is in line with prevention of SIDS.]
153
```
What gene in CF?
Type of channel?
Which locus affected usually?
Carrier rate?
Common organisms affecting?
```
CFTR gene -> codes for cAMP regulated chloride channel
delta F508 on chromosome 7
1/25
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia*
Aspergillus
154
A baby is born by normal vaginal delivery at 39 weeks gestation. Initially all appears well and then the clinical staff become concerned because the baby develops recurrent episodes of cyanosis. These are worse during feeding and improve dramatically when the baby cries. The most likely underlying diagnosis is:
What is this condition?
Common features?
Mx?
Choanal atresia
posterior nasal airway occluded by soft tissue or bone
often obligate nasal breathers
Cyanosis which is often the worst with feeding
Fenestration procedures to restore patency
155
Cause of headlice?
diagnosis?
Mx?
pediculus capitis
fine toothed combing of wet hair
Mx
Only needed if living lice are found
-malathion / wet combing / dimeticone / isopropyl myrisate / cyclomethicone
156
Causes of jaundice in first 24 hours?
Rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
G6PD deficiency
157
The mother of a 4-year-old boy comes to surgery as she is concerned he is still wetting the bed at night. This is in contrast to his older brother who was dry at night by the age of 3 years. She is wondering if there is any treatment you can offer. What is the most appropriate management?
Reassure
| advice on fluid intake, diet and toiletting behaviour
158
Eg of a antenatal, intra partum and postnatal cause of cerebral palsy ?
antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
intrapartum (10%): birth asphyxia/trauma
postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
159
Usual type of cerebral palsy?
Classification
spastic (70%): hemiplegia, diplegia or quadriplegia
dyskinetic
ataxic
mixed
160
Mx of cerebral palsy ? Treatment for spasticity?
MDT - Physio, SALT, OT
oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
Anti convulsants and analgesia as required
161
Cause of chicken pox?
Incubation period?
Infectivity?
varicella zoster
10-21 days
4 days before rash until 5 days after rash appeared
OR
can be caught by someone with shingles
162
Features of chicken pox
Initial fever
itchy rash starting on head/trunk then spreads
Starts as a macular rath then papular then vesicular
163
MX of chicken pox?
Mx if newborn / immunocompromised?
keep cool, trim nails
Calamine lotion
Exclude from school until all vesicles have crusted over
varicella zoster immunoglobulin (VZIG)
If chicken pox develops -> acyclovir
164
Most common complication of chicken pox?
| Others?
bacterial infxtion of lesions
Pneumonia
encephalitis
disseminated haemorhhagic chicken pox
Arthritis, nephritis and pancreatitis may rarely be seen
