paeds level 3 conditions Flashcards
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?
- 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
DDx for fever of unknown origin in children:
- infective? 10
- non-infective? 6
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)
RUBELLA:
- describe the rash that occurs when you’re infected? (incl associated symptoms)
- what infections often confused with? 3
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
CONGENITAL RUBELLA SYNDROME:
- features?
- when is risk highest?
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
NEUROBLASTOMA
- pathophysiology?
- typical age of onset?
- typical presentation?
- investigation?
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
NEUROBLASTOMA DDx? 4
- pheochromocytoma
- adrenal adenoma
- lymphoma
- Wilms tumour
THALASSAEMIA:
- who affects?
- features if Beta heterozygous?
- features if Beta homozygous?
- management?
- features if alpha thalassaemia
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!
DDx anaemia:
- microcytic? 4
- other? 5
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
WILMS TUMOUR:
- aka?
- most common presenting feature?
- other possible feature?
- management and prognosis?
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
INNOCENT MURMUR:
- eight features? (all start with the same letter)
- what often triggers or exacerbates them?
- safety net?
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
Which congenital heart diseases are:
- cyanotic? 4
- acyanotic? 2
- obstructive? 3
which is left to right shunt and which left to right?
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
VSD:
- shunt? cyanotic or acyanotic?
- presentation?
- features of murmur?
- management?
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
ASD
- shunt? cyanotic or acyanotic?
- presentation?
- features of murmur?
- management?
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
AVSD
- describe it?
- shunt? cyanotic or acyanotic?
- presentation?
- what condition associated with?
- management?
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!)§
PDA
- shunt? cyanotic or acyanotic?
- presentation? incl examination findings?
- features of murmur?
- who most common in?
- management?
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!
Coarctation of aorta
- presentation?
- key clinical finding on screening exam?
- condition associated with?
- management?
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
transposition of great arteries
- describe it
- shunt? cyanotic or acyanotic?
- presentation?
- features of murmur?
- management?
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
TETROLOGY OF FALLOTS:
- four features?
- shunt? cyanotic or acyanotic?
- presentation?
- management?
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
Key differences in paediatric ECG interpretation? 2
- 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
What condition occurs if uncorrected left to right shunt? describe it
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
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
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
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
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
HIRSCHPRUNGS DISEASE:
- what is it?
- what congenital syndrome associated with?
- classical presentation? 2
- initial management?
- definiteive investigation?
- definitive management?
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!
DDx hypertension in children? 4
- coarctation of aorta
- congenital adrenal hyperplasia
- renal parencyhmal disease
- renal vascular disease
BILIARY ATRESIA:
- what is it?
- how does it present?
- who should you always suspect it in?
- management?
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!
Most common cause of jaundice in older children?
other rarer causes? 4
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)
HEPATITIS A INFECTION:
- how spread?
- features of prodrome and condition?
- management?
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)
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?
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
TODDLERS DIARRHOEA:
- what is it? describe presentation
- main red flags? 3
- common DDx? 3
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
MALROTATION WITH VOLVULUS:
- pathophysiology?
- presentation?
- investigation?
- management?
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
DDx for bilious vomiting in neonates?
first line investigatioon for bilious vomiting in the neonate?
incl how to tell difference and norm age
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!
DUCHENNE MUSCULAR DYSTROPHY:
- genetics?
- presentation?
- clinical sign?
- first line investigation + finding
- prognosis?
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
SPINA BIFIDA:
- pathophysiology?
- three types and features of each?
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
GLOMERULONEPHRITIS:
- most common cause in children?
- other causes?
POST-STREPTOCOCCAL = most common cause
OTHER CAUSES
- IgA nephropathy
- alport syndrome (have hearing probs too)
- goodpasture syndrome (often present w haemoptysis as well)
POST-STREPTOCOCCAL GLOMERULONEPHRITIS:
- describe classical presentation
- what found on urineanalysis?
- other specific investigation to do?
- what two tests for severity?
- management?
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
HYPOSPADIAS
- what is it? describe
- what may it be associated with?
- management?
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
name the viruses that causes:
- hand, foot + mouth?
- slapped cheek / fifth disease?
hand foot + mouth
= Cocksackie A
slapped cheek / fifth
= Parvovirus B19
VULVOVAGINITIS
- cause
- describe typical presentation, incl norm age
- investigation, if concerned?
- management?
- red flags? 5
- DDx? 3
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
ERYTHEMA NODOSUM:
- describe apperance and features
- possible causes? 7 (which is most common)
- 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)
SCABIES
- classical rash (incl distribution)
- when should you always consider scabies
- diagnosis?
- management? 3
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
PERTHE’S DISEASE:
- what is it?
- peak age group?
- presentation? (incl findings on exam)
- imaging? finding on imaging?
- management
- complications? 2
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
SLIPPED UPPER FEMORAL EPIPHYSIS (SUFE):
- what is it?
- presentation?
- typical age group? (and other risk factors? 2)
- findings on exam?
- imaging?
- management?
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
FRAGILE X SYNDROME:
- genetics?
- physical features? 5
- other features? 2
- who should you always suspect it in?
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
DI-GEORGE SYNDROME:
- genetics?
- features? (incl acronym)
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
CONDUCT DISORDER:
- describe features
- diagnosis
- risk factors
- common DDx? 5
- 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
