paeds level 3 conditions Flashcards

Question 1

Q

HIV:

two most common ways it’s transmitted to children?
how do infants tend to present?
who should you always suspect HIV in?
how to prevent infection speeding to children?

Answer

A

infants born to infected mothers
adolescents acquiring infections sexually

young children normally present by age age 3 with features of immunodeficiency:

failure to thrive
diarrhoea
candidiasis
hepatosplenomegaly
severe bacterial infection (eg pneumonia, esp pneumocystis)
septicaemia
persistent pulmonary infultrates
TB
systemic candida

SUSPECT in children with a FEVER OF UNKNOWN ORIGIN!

Without intervention 20-30% of babies born to HIV+ mothers will become HIV+ themselves

give HAART through pregnancy and avoid breast-feeding to prevent
infant should also receive prophylactic anti-retrovirals after birth for a few months too

nb that maternal antibodies may still be measurable up to 18 months in uninfected infants, so may obscure the diagnosis

nb some children who have vertical transmission may not present until much later (eg teenage years)
- the earlier you present, the worse the prognosis

Question 2

Q

DDx for fever of unknown origin in children:

infective? 10
non-infective? 6

Answer

A

INFECTIVE

occult abscess (eg dental)
infectious mononucleosis (red pharynx, lymphadenopathy)
pneumonia
TB (weight loss, night sweats)
infective endocarditis (new murmur, clubbing + splinter haemorrhages)
osteomyelitis (painful immobile limb, swelling + redness occur later)
hepatitis (could be autoimmune)
UTI (urinary symptoms often not present when young)
HIV
foreign infection (always ask about foreign travel!)

NON-INFECTIVE

neoplastic disease (solid or blood)
collagen vascular disease (remitting fever, systemic JIA)
kawasaki disease
IBD (bowel symptoms may not be obvious)
dehydration
factitious fever (ie thermometer in mug, no sweating or raised HR)

Question 3

Q

RUBELLA:

describe the rash that occurs when you’re infected? (incl associated symptoms)
what infections often confused with? 3

Answer

A

nb typically less than 5 cases in the UK every year since MMR

prodrome of low grade fever, URTI

usually a mild illness
then maculopapular rash, initially on the face before spreading to whole body (norm fades by day 3-5

also get sub occipital + post-auricular lymphadenopathy

nb complications:
- arthritis
- thrombocytopenia
- encephalitis
- myocarditis
all incredibly rare

generally a very mild disease (much lower chance of complications that measles) except to pregnant women!

DDx

measles
parvovirus B19 (aka slapped cheek or fifth disease)
scarlet fever

Question 4

Q

CONGENITAL RUBELLA SYNDROME:

features?
when is risk highest?

Answer

A

Features of congenital rubella syndrome:

sensorineural deafness
congenital cataracts
congenital heart disease (e.g. patent ductus arteriosus)
growth retardation
hepatosplenomegaly
purpuric skin lesions
‘salt and pepper’ chorioretinitis
microphthalmia
cerebral palsy

can also get miscarriage / still birth

in first 8-10 weeks risk of damage to fetus is as high as 90% (ie when women may not know they’re pregnant)
- damage is rare after 16 weeks

don’t give a women an MMR vaccine if they are pregnant or attempting to become pregnant

as it is a live vaccine so may cause damage
only thing you can do is advise them to keep away from people who may have rubella

Question 5

Q

NEUROBLASTOMA

pathophysiology?
typical age of onset?
typical presentation?
investigation?

Answer

A

arises in neural crest tissue: renal medulla (most common site) + sympathetic nervous system (ie up the sympathetic chain)
- 2nd most common site is retroperitoneum

children under 5

median age is 20 months
95% before age 10

PRESENTATION:

abdominal mass
hepatomegaly
peri-orbital bruising
proptosis
bone pain, limp (from mets)
paraplegia (dt nerve compression)
skin nodules
pallor
weight loss

RAISED URINARY CATECHOLAMINES

calcification may be seen on x-ray
biopsy

prognosis good if not metastasised or present before 18 months
- less good if older or mets

Question 6

Q

NEUROBLASTOMA DDx? 4

Answer

A

pheochromocytoma
adrenal adenoma
lymphoma
Wilms tumour

Question 7

Q

THALASSAEMIA:

who affects?
features if Beta heterozygous?
features if Beta homozygous?
management?
features if alpha thalassaemia

Answer

A

Beta is most common + found in:

asians
mediterraneans

asymptomatic if Beta trait (ie heterozygous)

aka thalassaemia minor
will have a microcytic hypochromic anaemia on bloods though
no treatment required

HOMOZYGOUS BETA

aka thalassaemia major
severe haemolytic anaemia
presents in 1st year of life with FAILURE to THRIVE and HEPATOSPLENOMEGALY
compensatory bone marrow hyperplasia -> overgrowth of facial + skull bones (frontal bossing)
need blood transfusion (and sub cut infusion of chelating agents to deal with resulting iron overload!)

ALPHA THALASSAEMIA

severity varies with how many alpha units affects:
1 or 2 then subclinical
3 then relatively sever anaemia with splenomegaly
4 (ie homozygote) then death in utero (hydropower fetalis)

nb Alpha is much rarer than beta!

Question 8

Q

DDx anaemia:

microcytic? 4
other? 5

Answer

A

MICROCYTIC:

IRON DEFCIENCY (ill high milk diet + heavy periods)
thalassamia trait
chronic disease (esp coeliac)
lead poisoning

OTHER:

leukaemia
other malignancies
chronic infection
chronic renal failure
sickle cell anaemia

Question 9

Q

WILMS TUMOUR:

aka?
most common presenting feature?
other possible feature?
management and prognosis?

Answer

A

aka nephroblastoma ie embryonic renal tumour

ABDOMINAL MASS
- is solid + cystic

microscopic haematuria
flank pain
anorexia
fever

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

MANAGEMENT

nephrectomy
chemo
radiotherapy if mets (norm to lung)

very good prognosis (80% cure rate)

nb can be associated with congenital syndromes but normally not

Question 10

Q

INNOCENT MURMUR:

eight features? (all start with the same letter)
what often triggers or exacerbates them?
safety net?

Answer

A

8 S’s

Soft (also quiet)
Short
Systolic
Site - heard over small area (left Sternal edge)
Sitting + standing - Change with movement or position (decreases in intensity when stand)
symptom-free
Signs - none present (incl no FTT and no thrills)
Special tests normal (radiograph, ECG normal)

eg venous hum or flow murmurs

tend to get / exacerbate in:

febrile / intercurrent illness
anaemia

also because heart is small there is just more turbulence
- can be heard in 30% of children at some point

If child is acutely unwell and has a murmur then wait until they are better again to listen for murmur again - normally it’s gone when they’re well again

Question 11

Q

Which congenital heart diseases are:

cyanotic? 4
acyanotic? 2
obstructive? 3

which is left to right shunt and which left to right?

Answer

A

ACYANOTIC
= Left to Right shunt
- VSD
- ASD
- AVSD
- PDA

CYANOTIC
= Right to Left shunt
- tetrology of Fallot
- transposition of great arteries

OBSTRUCTIVE

coarctation of aorta
aortic stenosis
pulmonary stenosis

Question 12

Q

VSD:

shunt? cyanotic or acyanotic?
presentation?
features of murmur?
management?

Answer

A

L to R shunt

acyanotic
presents with breathless and red
harsh systolic murmur
sounds like sawing a block of wood
loudest at lower left sternal edge (LLSE)

small or medium defects often repair themselves - so just need monitoring

large ones may need
surgery to prevent pulmonary vascular disease

can also use ACEi + diuretics etc to control the heart failure

Question 13

Q

ASD

shunt? cyanotic or acyanotic?
presentation?
features of murmur?
management?

Answer

A

L to R shunt
- acyanotic

doesn’t cause symptoms in childhood but get pulmonary hypertension in 2nd and 3rd decades

Systolic murmur on upper left sternal edge (ULSE)
- also get fixed splitting of the 2nd heart sound (nb normally it splits when you inspire but not when you expire)

unlike VSD, don’t tend to close by themselves
- close surgically by school age to prevent late pulmonary hypertension

Question 14

Q

AVSD

describe it?
shunt? cyanotic or acyanotic?
presentation?
what condition associated with?
management?

Answer

A

5 leaflet AV valve with a VSD
- ie the mitral and tricuspid valves are combined into one large valve

Mixing of blood

Can be cyanosed
More likely to be heart failure from overload (ie acyanotic)

Most common cardiac defect in down’s syndrome

surgical management

(also all kids with downs get an echo to screen for this!)§

Question 15

Q

PDA

shunt? cyanotic or acyanotic?
presentation? incl examination findings?
features of murmur?
who most common in?
management?

Answer

A

PATENT / PERSISTENT DUCTUS ARTERIOSIS

acyanotic
- blood flow from aorta through PDA into pulmonary arteries

murmur
heart failure
tachycardia
BOUNDING FEMORAL pulses

MACHINE HUM MURUMUR
- systolic AND diastolic

most common if preterm

can be closed medically = INDOMETHACIN (prostaglandin inhibitor)

may need to be closed surgically!

Question 16

Q

Coarctation of aorta

presentation?
key clinical finding on screening exam?
condition associated with?
management?

Answer

A

Outflow obstruction

If dependant on patent ductus arteriosus

may present shocked a few days after birth when when ductus closes:
grey, breathless, collapsed
hepatomegaly

Weak/absent FEMORAL PULSES

nb if non-duct dependant then may not present like this and collateral circulation may just occur - why it’s SO important to check femoral pulses!

nb don’t really get a murmur - really important to check femoral!

Often get in Turner’s syndrome (have puffy hands and feet)

MANAGAMENT

prostaglandins to reopen ductus
then surgically repair urgently

Question 17

Q

transposition of great arteries

describe it
shunt? cyanotic or acyanotic?
presentation?
features of murmur?
management?

Answer

A

Aorta attached to RV
Pulm artery attached to LV
- Blue blood returns from body and is pumped back around body
- nb there must be some connection (ductus arterioles, VSD, ASD) or is incompatible with life

may or may not be a murmur

NEEDS abnormal connection between left and right to mix blood therefore often are DUCT-DEPENDANT
- So present at a couple of days of life

Need prostaglandins to keep duct open before can have surgery

Heart characteristically looks like “an egg on the side” on x-ray

Question 18

Q

TETROLOGY OF FALLOTS:

four features?
shunt? cyanotic or acyanotic?
presentation?
management?

Answer

A

1) VSD
2) Overriding aorta
3) sub pulmonary stenosis
4) right ventricular hypertrophy (to compensate for other things)

cyanotic
- get ‘tet spells’

norm picked up antenatally

if not then have a murmur and gradually get more blue
may have cyanotic attacks where they just collapse and go blue

tet spell:

child goes blue, squats and then oxygenation improves!
rare now dt earlier diagnosis

get typical ‘boot shaped heart’ on x-ray

treat cyanotic attacks with beta blockers, analgesia and oxygen

surgery in first year of life

Question 19

Q

Key differences in paediatric ECG interpretation? 2

Answer

A

HR is faster (use age-gusted normal ranges)
born with relative right ventricular hypertrophy so have right axis deviation at birth which gradually moves to left

nb there are lots of other slight differences which can be aware of but are complex! - just know that you need to interpret them differently

Question 20

Q

What condition occurs if uncorrected left to right shunt? describe it

Answer

A

EISENMENGER’S SYNDROME

long standing left to right shunt causes pulmonary hypertension and eventual reversal of the shunt to a cyanotic right to left shunt

Question 21

Q

TUBERCULOSIS:

common sites of primary infection? 2 (how normally present in kids?)
features of meningitis caused by TB?
key investigation? (what findings mean)
other possible investigations?
management? 2

Answer

A

PRIMARY INFECTION

lung
gut

primary infections are often aymptomatic in children and may lay dormant for years

though may get septicaemia if it spreads (miliary TB)
normally only picked up ncidentally on a CXR etc

TUBERCULOSIS MENINGITIS

insidious in onset: weight loss, malaise, anorexia and maybe slight fever
later may be convulsions, focal neuro signs and LOC
get LYMPHOCYTOSIS and LOW GLUCOSE on LP (treat this as TB until proven otherwise)

TUBERCULIN SKIN TEST (aka mantou)

inject tuberculin and leave for 2-3 days
immunised children have some reaction
active TB have large reaction

OTHER INVESTIGATIONS

CXR
PCR (eg of CSF sample)
bacterial culture (slow - several weeks)
TB blood tests (increasing in usefulness)

MANAGEMENT:

6 months of abx combination treatment
notification to public health

Question 22

Q

PERTUSSIS:

aka?
three stages? (incl presentation at each stage)
incl difference in presentation with infants and older children
investigations? (incl characteristic fiding in FBC)
management? 2

Answer

A

BORDELLA PERTUSSIS TOXIN

Catarrhal (1-2wks) - Infectious; non-specific: mild Sx with fever, cough and coryza
Paroxysmal (2-6wks):
- severe paroxysmal cough, followed by inspiratory whoop/wheeze and vomiting
- infants may have apnoeic spells
Convalescent/Resolution (2-4wks);
- lessening Sx that may take a whole month to resolve
- ‘100 day cough’ - cough and whooping last a long time after no longer infectious

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

PCR and serology are now increasingly used as their availability becomes more widespread

get significant LYMPHOCYTOSIS in pertussis - so do FBC as others the longer to come back

give macrolides (norm ERYTHROMYCIN) to reduce transmission to other people - has little effect on child’s symptoms

NOTIFIABLE DISEASE
- school exclusion for 48hrs after give abx

Question 23

Q

HIRSCHPRUNGS DISEASE:

what is it?
what congenital syndrome associated with?
classical presentation? 2
initial management?
definiteive investigation?
definitive management?

Answer

A

absence of parasympathetic ganglion cells in bowel wall nerve plexus

more common in down’s syndrome

PRESENTATION

1) delayed passage of meconium (>48hrs)
2) abdominal distension

nb can be missed and present as constipation and distension in older child
- so always ask about meconium!!!

initially do a PR under anaesthetic will have explosive evacuation of faeces

RECTAL BIOPSY

management = surical resection of affected bowel!

Question 24

Q

DDx hypertension in children? 4

Answer

A

coarctation of aorta
congenital adrenal hyperplasia
renal parencyhmal disease
renal vascular disease

Question 25

Q

BILIARY ATRESIA:

what is it?
how does it present?
who should you always suspect it in?
management?

Answer

A

absence of intra or extra-hepatic bile ducts -> prtogressive CONJUGATED HYPERBILIRUBINAEMIA

PRESENTATION:

progressive jaundice in neonate (conjugated)
pale stools and dark urine

always suspect in neonates still jaundiced after 2 WEEKS

need KASAI PROCEDURE (aka hepatoportoenterostomy) within first 6 weeks (earlier the better)
- then most will need a transplant later in life!

Question 26

Q

Most common cause of jaundice in older children?

other rarer causes? 4

Answer

A

HEPATITIS A INFECTION = most common cause

RARER CAUSES:

hereditary spherocytosis
G6PD defieiciency
^both dt chronic haemolysis
autoimmune chronic hepatitis
Reye syndrome (dt ingestion of aspirin)

Question 27

Q

HEPATITIS A INFECTION:

how spread?
features of prodrome and condition?
management?

Answer

A

faecal oral rout of spread

PRODROME (WEEK 1)

anorexia, malaise
nausea / abdo pain

JAUNDICE (WEEKS 2-3)

tender hepatomegaly
pale stools, dark urine
raised urine urobilinogen + bile
raised serum bilirubin (conjugated + unconjugated)
rasied AST + ALT

nb often a milder infection in children than in adults

if one child in family gets it then others likely to get it too

bed rest

complications are rare
will normally recover in a couple of weeks (though jaundice may very ocassionally persist for months)

Question 28

Q

INFLAMMATORY BOWEL DISEASE:

symptoms / signs in children which could indicate IBD? 4 (ie IBD should always be in differential if present with any of these)
what important question to ask if any of these signs/symptoms?
what % of IBD cases present in childhood?

Answer

A

SIGNS THAT COULD INDICATE IBD

abdominal pain (acute or chronic)
diarrhoea (esp if mucusy)
rectal bleeding
growth failure (either short stature or weight loss)

nb can rarely present with no GI symptoms

ask if FAMILY HISTORY of crohns or ulcerative colitis

over 25% of IBD initially presents in childhood

nb in infants colitis is usually due to cow’s milk intolerance and responds to the exclusion of cow’s milk

Question 29

Q

TODDLERS DIARRHOEA:

what is it? describe presentation
main red flags? 3
common DDx? 3

Answer

A

in toddlers is quite common to have frequent loose stools at this age without any pathology

is due to rapid bowel transit time
undigested food is often seen in the stool within a few hours of being eaten

suggest another cause if:

blood in stools
failure to thrive / weight loss
vomiting as well (esp if bilious)

COMMON DDx:

cow’s milk intolerance / allergy
coeliac disease
post-gastroenteritis lactose intolerance

Question 30

Q

MALROTATION WITH VOLVULUS:

pathophysiology?
presentation?
investigation?
management?

Answer

A

incomplate rotation during embryogenesis -_ abnormal fixation of small bowel mesentery making it prone to twisting

presents usually 3-7 days after birth with volvulus:

haemodynamic instability
peritoneal signs (TENSE ABDO)
bilious vomiting

infant is CLINICALLY UNWELL!!! dt bowel ischaemia

over 50% present in first month of life but can present later!

UPPER GI CONTRAST STUDY
- get corkscrew appearance

surgical emergency, risk of bowel infarction

Question 31

Q

DDx for bilious vomiting in neonates?

first line investigatioon for bilious vomiting in the neonate?

incl how to tell difference and norm age

Answer

A

DDx of BILIOUS VOMITING IN NEONATES

1) DUODENAL ATRESIA
- few hours after borth
- clinically well (but may have scaphoid abdo)
- AXR shows ‘double bubble sign’

2) MALROTATION WITH VOLVULUS
- norm 3-7 days after birth
- clinically unwell: peritoneal signs, haemodynamic instability dt bowel ischaemia
- upper GI contrast study shows ‘corkscrew’ appearance

3) JEJUNAL / ILEAL ATRESIA
- usually within 24hrs of birth
- AXR will show air-fluid levels

4) MECONIUM ILEUS
- first 2 days of life
- abdo distension
- failure to pass meconium
- 15-20% of babies with CF (very rare otherwise)
- air fluid levels on AXR
- sweat test to confirm CF

5) NECROTISING ENTEROCOLITIS
- usually 2nd week of life
- increased risk if premature or inter-current illness
- Abdo x-ray shows thickening of intestinal wall, then air in bowel wall (pneumotosis intestinalis)
- supportive measures for non-perforated cases, laparotomy + resection if not improving

ABDO X-RAY IS FIRST LINE INVESTIGATION

nb all of these, except nec enterocolitis need surgical management

nb gastrointestinal malformations present in the foetus or neonate - after infancy, inguinal hernia is the most common cause of bowel obstruction!

Question 32

Q

DUCHENNE MUSCULAR DYSTROPHY:

genetics?
presentation?
clinical sign?
first line investigation + finding
prognosis?

Answer

A

X-linked recessive

presents aged 1-6 in boys:

difficulty walking
abnormal waddling gait
difficulty climbing stairs
calf pseudohypertrophy

POSITIVE GOWER’S SIGN

ask to stand from sitting
turn over onto all fours and then ‘climb up’ their own legs

SIGNIFICANTLY RAISED CREATININE KINASE (in the 1000s)

physio
OT support
genetic counselling

ability to walk is lost at about age 10, death occurs in early adulthood dt pneumonia or myocardial impairment

nb 30% also have intellectual impairment

Question 33

Q

SPINA BIFIDA:

pathophysiology?
three types and features of each?

Answer

A

non-fusion of the vertebral arches during embryonic development
- results in LOWER motor neurone signs (as opposed to cerebral palsy = UMN signs)

MENINGOMYELOCELE

aka myelocele
= most severe form: all elements of spinal cord + nerve roots involved
norm occurs in lumbar region
baby born with raw swelling over the spine
legs: paralysis w sensory loss below level of the lesion (also hip dislocation + club foot
head: hydrocephalus with learning problems
bladder: neuropathic bladder w incontinence, recurrent UTIs, renal damage
anus: faecal incontinence

MENINGOCELE

rare + less serious
swelling over the lower back is covered by skin + contains no neural tissue, is just meninges
surgery done to correct
norm no long term damage

SPINA BIFIDA OCCULTA

very common + often goes unnoticed
1 or more veretbrae don’t form correctly, but gap in spine is norm very small
doesn’t usually cause any problems but if there are external ‘markers’ in the lumbar region (hairy tuft, naevus, lipoma) then may be more likely
hence why look for neuro signs if recurrent UTIs etc

Question 34

Q

GLOMERULONEPHRITIS:

most common cause in children?
other causes?

Answer

A

POST-STREPTOCOCCAL = most common cause

OTHER CAUSES

IgA nephropathy
alport syndrome (have hearing probs too)
goodpasture syndrome (often present w haemoptysis as well)

Question 35

Q

POST-STREPTOCOCCAL GLOMERULONEPHRITIS:

describe classical presentation
what found on urineanalysis?
other specific investigation to do?
what two tests for severity?
management?

Answer

A

occurs 1-2 weeks after a strep throat infection (or skin infection)

may have malaise, loin pain + headache or be asymptomatic

may be mild peri-orbital oedema
mild oligouria
gross haematuria
granular + red cell casts
sometimes mild proteinuria

‘COCOA COLA URINE’

may be low C3 complement level (will be normal in nephrotic syndrome)
- can also do throat swab for streptococcus

mild disease for most kids but can have AKI

U+Es (for AKI)
BP (will be raised if severe)

penicillin may be used - but no evidence that improves

management is supportive

strict monitoring of fluid balance + Mrenal funciton monitoring
may need salt + water restriction
dialysis may rarely be needed

Question 36

Q

HYPOSPADIAS

what is it? describe
what may it be associated with?
management?

Answer

A

congenital abnormality where urethral opening is on ventral surface of the penis

may have chordee (ventral curvature of penis) in more severe forms
may also be meatal stenosis

normally an isolated abnormality but can be associated with urological abnormalities, undescended testes (cryptorchidism being the most common)

corrective surgery performed before 2 years of age

do NOT circumcise, as foreskin may be needed for reconstructive surgery

in boys with very distal disease no treatment may be needed

Question 37

Q

name the viruses that causes:

hand, foot + mouth?
slapped cheek / fifth disease?

Answer

A

hand foot + mouth
= Cocksackie A

slapped cheek / fifth
= Parvovirus B19

Question 38

Q

VULVOVAGINITIS

cause
describe typical presentation, incl norm age
investigation, if concerned?
management?
red flags? 5
DDx? 3

Answer

A

thin skin dt lack of oestrogen as prepubertal

high moisture (eg tight jeans, wearing pants at night)
also obesity can contribute

fairly common condition

esp age 3 to 10 years
disappears at puberty
itching
redness
swelling
may be burning / stinging when pass urine

do SWAB if concerned
- incl testing for STIs

MANAGEMENT

loose weight
don’t wear pants at night
wipe front to back
avoid soaps + irritants

nb may recur but reassure will settle at puberty

DDx

thread worms (if itch a lot, especially at night)
UTI
sexual abuse

RED FLAGS

any blood
culture chlamydia or gonorrhoea (sexual abuse)
skin changes that may indicate a different skin condition
fever
pain when passing urine

Question 39

Q

ERYTHEMA NODOSUM:

describe apperance and features
possible causes? 7 (which is most common)

Answer

A

tiny red lumps (1-3cm)
may be extremely tender
distributed symetrically over front of shin (can occur elsewhere)
initially purple + painful, gradually subside + look like old bruises
may occur at intervals in crops

thought to be a hypersensitivity reaction

CAUSES

streptococcal infection
TB
drug reaction
IBD
lupus
sarcoidosis
IDIOPATHIC (most common)

Question 40

Q

SCABIES

classical rash (incl distribution)
when should you always consider scabies
diagnosis?
management? 3

Answer

A

VERY itchy papulo-vesicular rash

interdigital spaces, wrist flexures + anterior axillary folds (in older children)
in infants, distribution can be anywhere

can often present with secondary infections (eg impetigo) and often have excoriation marks from scratching

always consider scabies if ITCHY RASH that does NOT respond to steroids
- esp if another family member affected

norm a clinical diagnosis (but can do microscopy of mite from burrows)

MANAGEMENT:

1) PERMETHRIN cream (5%)
- 12-hour topical application then repeat a week later
- do for child + ALL household + close contacts

2) Launder all linen and clothing
3) Antihistamines for itch

nb also treat secondary infection if present

Question 41

Q

PERTHE’S DISEASE:

what is it?
peak age group?
presentation? (incl findings on exam)
imaging? finding on imaging?
management
complications? 2

Answer

A

avascular necrosis of the femoral head

peak age 4-8

“perthes in primary school”
much more common in boys (5:1)
limp
hip pain (often referred to the knee) which develops progressively over a few weeks
leg length discrepancy
restriction of INTERNAL ROTATION of the hip

nb 10% are bilateral

nb may follow transient synovitis and be asymptomatic initially

X-RAY

joint space widened early on
collapse + deformity of the femoral head later
if no abnormalities present but symptoms persist, do MRI

MANAGEMENT:

use casts + braces to keep femoral head in acetbulum
observe if less than 6 - is self-limiting and normally get good results
surgery often needed if older

COMPLICATIONS

premature fusion of the growth plates
early osteoarthritis

Question 42

Q

SLIPPED UPPER FEMORAL EPIPHYSIS (SUFE):

what is it?
presentation?
typical age group? (and other risk factors? 2)
findings on exam?
imaging?
management?

Answer

A

femoral epiphysis is displaced backward
- split through the growth plate of an immature hip

may present acutely following trauma or, more commonly, with chronic, persistent symptoms

hip, groin, medial thigh or, most commonly, KNEE PAIN
loss of INTERNAL ROTATION of hip
may be discrepancy in leg length
bilateral in 20%

RISK FACTORS

age 10-15
boys
obese

INVESTIGATION
- hip x-ray (AP + frog leg)

MANAGEMENT

all cases admitted
INTERNAL FIXATION: typically a single screw

70% will resolve with normal range of motion

Question 43

Q

FRAGILE X SYNDROME:

genetics?
physical features? 5
other features? 2
who should you always suspect it in?

Answer

A

X-linked dominant TRINUCLEOTIDE REPEAT DISORDER
- ie girls can get too if heterozygous but is a milder form

PHYSICAL:
- large, low set ears
- long, thin face
- high arched palate
- macroorchidism
- hypotonia
(- mitral valve prolapse)

OTHER

learning difficulties
autism

always suspect in boys with unexplained learning difficulties

nb features in girls vary from normal to mild learning difficulty

nb diagnosis can be made antenatally by chorionic villus sampling or amniocentesis
- analysis of no of CGG repeats by southern blot analysis

Question 44

Q

DI-GEORGE SYNDROME:

genetics?
features? (incl acronym)

Answer

A

microdeletion on chromosome 22

CATCH 22

C = Cardiac abnormalities = TOF

A = Abnormal face

small mouth / lips
eyes wide apart (hypertelorism)
tubular nose
malar (cheek) flattening
thickened, rounded folds of ear cartilage

T = Thymic hyperplasia = altered T cell function

C = Cleft palate

H = Hypocalcaemia (absent parathyroid)

22 = chromosome 22 microdeletion

Question 45

Q

CONDUCT DISORDER:

describe features
diagnosis
risk factors
common DDx? 5

Answer

A

serious aggressive behaviour + disregard for others
pushing, hitting + biting in childhood
bullying, cruelty + violence in adolescence
property damage
theft / arson
truancy / running away

must be present for at least 6 months + result in functional difficulties

RISK FACTORS

biological or adoptive parent or sibling with conduct disorder
biological parent with ADHD, alcohol abuse, depression, bipolar or schizophrenia
children who’ve experienced abuse, neglect or inconsistent parenting (also neighborhood violence, peer delinquency etc)

DDx

ADHD
depression
bipolar
schizophrenia
PTSD

Brainscape's Knowledge GenomeTM

paeds level 3 conditions Flashcards

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