Paeds Flashcards
Describe Fragile X syndrome
Features of macrocephaly, prominent ears and jaw, learning difficulties and behavioural problems.
It is the most common inherited cause of LD in boys.
X linked inheritance CCG
Describe Patau’s syndrome
Patau syndrome (Trisomy 13) presents with severe congenital malformations including microcephaly (not macrocephaly), cleft lip/palate, polydactyly, cardiac defects and severe intellectual disability. Most affected individuals do not survive beyond infancy due to multiple organ system involvement.
Describe Edward;s syndrome
Edward’s syndrome (Trisomy 18) presents with growth retardation, severe intellectual disability, microcephaly, overlapping fingers, rocker-bottom feet, congenital heart disease and other anomalies.
Describe Williams syndrome
friendly
short
LD
star shaped iris
facial features: small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes.
Supravalvular aortic stenosis
Describe Pierre-Robin syndrome
triad of micrognathia (small lower jaw), glossoptosis (downward displacement or retraction of the tongue) and airway obstruction.
Most common causitive agent of bronchiolitis vs croup?
Respiratory syncytial virus for bronchiolitis
Parainfluenza virus for croup
What is osgood-schlatters disease?
Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
What is 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
What is patellar tendonitis?
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
What is perthes syndrome? Presentation? What does it show on xray? What is the management?
Perthes’ disease is due to avascular necrosis of the femoral head.
Features
typically presents as age 4-8 years. 5 times more common in boys
hip pain: develops progressively over a few weeks; limp; stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
Treatment: keep femoral head within the acetabulum: cast, braces
If <6 years: observation
Older: surgical
Describe Noonans syndrome
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
short
ptosis
What differentiates different causes of precocious puberty in boys?
The testes:
bilateral enlargement = gonadotrophin release from intracranial lesion
unilateral enlargement = gonadal tumour
small testes = adrenal cause (tumour or adrenal hyperplasia) - excess androgens but no LH or FSH produced in this case so tests left alone
What is Slipped upper femoral epiphysis typical presentation?
10-15 years, obese
Limp
hip held in ext roation and there is difficulty with int rotation
How does transient synovitis present?
Limp
Acute onset
Usually accompanies viral infections, but the child is well or has a mild fever
More common in boys, aged 2-12 years
What is patent ductus arteriosus? Presentation? Mx?
connection between the pulmonary trunk and descending aorta
FTT, recurrent infections
left subclavicular thrill
continuous ‘machinery’ murmur
large volume, bounding, collapsing pulse
wide pulse pressure
heaving apex beat
Mx with NSAIDs/ indomethacin - close via reducing PG
What is HUS? What causes it? Presentation? Mx?
haemolytic uraemic syndrome is caused bu Escherichia coli (E. coli) 0157:H7 –> shiga toxins —> damage endothelial cells —> destruction of RBC and consumption of platelets
Presents with: AKI, microangiopathic haemolytic anaemia + thrombocytopenia.
Mx supportive
What causes scarlet fever?
Group A haemolytic streptococci (usually Streptococcus pyogenes)
Mx of bow legs in young children?
Bow legs in a child < 3 is a normal variant and usually resolves by the age of 4 years
What murmur is associated with Turner’s syndrome?
Turner’s syndrome is associated with an ejection systolic murmur due to bicuspid aortic valve
What murmur does VSD cause?
Pansystolic murmur.
Use of caffeine in neonates?
Helping wean off ventilator - increases RR
What makes a murmur innocent in a child?
soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
may vary with posture
localised with no radiation
no diastolic component
no thrill
no added sounds (e.g. clicks)
asymptomatic child
no other abnormality
What complication can u get from kawasakis and how do u look for it?
Echocardiogram- coronary artery aneurysms
Why are babies offered vit K at birth?
Newborn babies are relatively deficient in vitamin K. This may result in impaired production of clotting factors which in turn can lead to haemorrhagic disease of the newborn (HDN). Bleeding may range from minor bruising to intracranial haemorrhages
Breast-fed babies are particularly at risk as breast milk is a poor source of vitamin K. Maternal use of antiepileptics also increases the risk
Because of this, all newborns in the UK are offered vitamin K, either intramuscularly or orally
What can be used to prevent RSV?
Palivizumab is a monoclonal antibody which is used to prevent respiratory syncytial virus (RSV) in children who are at increased risk of severe disease.
What are the features of down syndrome?
Cataracats / congenital heart issues
Hypothyroid/ hypotonia
Increased gap 1st/ 2nd toe (sandal gap)
Leukaemia/ lung infections
Duodenal atresia
Hearing loss/ hirshprungs
Alzheimers/ atrioventricular septal canal defects/ atlantiotaxial instability
Squint/ short/ subfertiility
Palmar crease
Round face
Occiput flat
Brushfield spot (eyes)
Learning disability
Epicanthic folds/ ears low set
Myoclonus
Abx for mengitis in kids >3m and <3m
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone)
strabismus vs ambylopia?
Squint (strabismus) is characterised by misalignment of the visual axes.
Squints may be divided into concomitant (common) and paralytic (rare).
It is important to detect as uncorrected may lead to amblyopia (the brain fails to fully process inputs from one eye and over time favours the other eye). AKA a lazy eye
What tests are done to detect strabismus?
Mx of strabismus
Detecting squint - corneal light reflection test - holding a light source 30cm from the child’s face to see if the light reflects symmetrically on the pupils
The cover test is used to identify the nature of the squint
ask the child to focus on an object –> cover one eye —> observe movement of uncovered eye–>
cover other eye and repeat test
Mx: refer for potential eye patch/ Ix of cause eg SOL
what is Juvenile myoclonic epilepsy
AKA janz syndrome
Juvenile myoclonic epilepsy is a genetic generalised epilepsy syndrome where get triad of absence, myoclonic and generalised tonic-clonic seizures.
what is the triad for shaken baby syndrome?
Retinal haemorrhages, subdural haematoma and encephalopathy is the triad of the shaken baby syndrome
nocturnal enuresis mx? what to r/o?
1st line -conservative: look for possible underlying causes/triggers, lifestyle advice, fluid intake, reward systems for beavious not dry nights
rule out: constipation, diabetes mellitus, UTI i
2nd line- enuresis alarm
3rd line - desmopressin
Limp in a child? main differentials
septic arthiritis
DDH = baby, B+O Test, unequal skinfold / leg length
Transient Synovitis = 2-10y, viral infection, most common
Perthes Disease (P for primary)= fit active 4-8y, AVN of Head
SUFE (S for secondary) = fat 10-15y, hip/knee problems
Juvenile Idiopathic Arthritis = <16y, >3m, â≤4 joints
When should children with glue ear be referred to ENT?
If a child has otitis media with effusion (glue ear) should be observed for 6-12 weeks
referral should be earlier for grommet if:
Symptoms are significantly affecting hearing, development or education
Immediate referral in children with Downs syndrome or cleft palate
How are capillary haemangiomas treated if requiring intervention eg on eyes/ airway
propranolol
When is the blood spot screening/ heel prick test done? What does it look for?
5th-9th day of life
Looks for sickle cell, CF, hypothyroidism, phenylketonuria (PKU), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
How do you manage CMPA in formula fed babies?
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
Describe the process for newborn resuscitation?
Birth: Dry baby, start the clock
Within 30s: assess APGAR - tone, breathing, HR
Within 60s: if gasping/ not breathing give 5 inflation breaths —> if not worked repeat 5 breaths —> chest compressions and consider IV drugs
What is twin-to-twin-syndrome? what to look for in mum?
Occurs in monochorionic pregnancy - share one placenta and therefore blood flow
One baby has more blood and gets overloaded/ polyhydramnios, other gets less and become anaemic/ oligohydramnios
Can cause SOB/ sudden increase in size of abdomen of mother
When should undescended testis be referred?
ectopic vs true?
RF for what?
6 months
Testicular descent can be ectopic (not following path of normal descent) or true (following path of normal descent)
Undescended testes = RF for infertility and torsion and ca NOT infection
How do you ix/ what would you see in intussusception?
ultrasound is now the investigation of choice and may show a target-like mass
What is kallmanns syndrome? How does it present?
delayed puberty secondary to hypogonadotropic hypogonadism (so LH and FSH and low). X-linked recessive trait. failure of GnRH-secreting neurons to migrate to the hypothalamus.
will have loss of sense of smell
Malrotation vs NEC?
Malrotation is most common day 3-7 of life, can lead to volvulus, Upper GI contrast study may show DJ flexure is more medially placed, USS may show abnormal orientation of SMA and SMV
Necrotising enterocolitis usually presents in second week of life, premature, bloody stools
X-ray shows dilated bowel loops, pneumatosis intestinalis (intramural gas)
Classifications of squints?
classified as to where the eye deviates toward the nose: esotropia
temporally: exotropia
superiorly: hypertropia
inferiorly: hypotropia
How to mx hernias in babies? umbilical vs inguinal
Inguinal hernia - get IN to surgery
Umbilical hernia - Um maybe I’ll wait (till 3)
What is koshers criteria in child with a limp?
Kocher’s criteria is used to assess the probability of septic arthritis in children using 4 parameters:
Non-weight bearing - 1 point
Fever >38.5ºC - 1 point
WCC >12 * 109/L - 1 point
ESR >40mm/hr - 1point
What does congenital rubella syndrome look like?
classic triad of sensorineural deafness, eye abnormalities and congenital heart disease
How does congenital CMV infection look like?
Antenatal cytomegalovirus infection can cause cerebral calcification, microcephaly and sensorineural deafness.
How does parvovirus B19 affect the fetus?
Parvovirus B19 causes hydrops fetalis (fluid build up in baby’s body) and death.
How does toxoplasmosis affect the fetus?
Toxoplasmosis causes intracranial calcification, hydrocephalus and epilepsy in the affected child.
Presentation of Roseola infantum? cause?
AKA sixth disease. It is a common childhood illness caused by human herpesvirus 6 (HHV-6) or sometimes human herpesvirus 7 (HHV-7). The disease usually presents with a sudden high fever lasting for around three days, followed by a characteristic rash consisting of rose-pink macules and papules that appear once the fever subsides. The rash typically starts on the trunk and may spread to the limbs and face.
How does varicella zoster affect the fetus?
scarring of the skin, limb hypoplasia, microcephaly and eye defects.
What is benign rolandic epilepsy?
most common childhood epilepsy,
Benign rolandic epilepsy is characterised by partial seizures at night, usually start young and stop in teens, can be complex or simple partial seizure
What is the common congenital heart defect in downs syndrome?
Atrioventricular septal defects is the most common congenital cardiac abnormality in Down’s syndrome
What can cause oligohydramnios?
Renal agenesis (Potter sequence) is a cause of oligohydraminos as the amniotic fluid is mainly derived from foetal urine.
What is the pathophysiology of turner’s syndrome?
Turner’s syndrome is denoted as 45,XO or 45,X.
Will have primary amenorrhoea and no secondary sex characteristics
Turner’s syndrome have hypogonadism due to their ovaries failing to produce sex hormones including oestrogen. FSH and LH would be elevated as negative feedback controls their secretion.
What is the pathophysiology of Androgen insensitivity syndrome?
X-linked recessive condition characterised by organs being resistance (is a spectrum) to androgens (testosterone), causing genetically male children (46XY) to have a female phenotype/ feminised male phenotype.
All with have primary amenorrhoea as have no ovaries or uterus. Will have varying levels of masculination/ feminisation depending on level of insensitivity. Eg if complete insensitivty will have no pubic hair, big breasts
Mx is surgical - ensuring testes or removed or descended as otherwise at risk of cancer and HRT.
What is the pathophysiology of Congenital adrenal hyperplasia ?
Causes primary amenorrhoea, there is development of male secondary sexual characteristics in females (such as deep voice and hirsutism, male pattern hair growth).
This is because of impaired cortisol synthesis (not enough corticosteroids) but can still make sex formones –> surplus progesterone which gets converted to testosterone
Also means have low corticosteroids so can have low blood sugar and low BP (like addisons)
duodenal atresia vs meconium ileus?
Both present with obstuction
Meconium ileus - Meconium is thick and cannot pass. Associated with CF. Presents first few days of life, Air - fluid levels on AXR
Duodenal atresia -duodenum closed off, presents in first few hrs of life. Double bubble sign on XR
Which congenital heart disease are cyanotic? (5Ts and a P)
Tetrology of Fallot
Trasposition of the Great Arteries
Tricuspid atresia
Truncus arteriosus
Total anomalous pulmonary venous return
Pulmonary stenosis
What are bilateral acoustic neuromas associated with?
Neurofibroma type 2
What is henoch-schonlein purpura?
A IgA vasculitis –> palpable non-blanching rash (buttocks and extensors), follows URTI
abdo pain
arthirtis
IgA nephropathy
Mx = supportive
Intitial mx of hirschprungs disease?
rectal washouts/bowel irrigation
Ages of cut off for precocious puberty?
development of secondary sexual characteristics before 8 years in girls and 9 years in boys
measles v rubella
Measles is characterised by prodromal symptoms, Koplik spots. maculopapular rash starting behind the ears and conjunctivitis
rubella - lymphadenopathy
Do premature babies get their vaccines earlier?
babies who were born prematurely should receive their routine vaccinations according to chronological age; there should be no correcting for gestational age.
What is the most common causitive agents of meningitis in:
neonates- 3m
older than 3m
neonates - 3m:
Group B strep
e.coli
listeria
> 3m
Neisseriameningitidis
Streptococcuspneumoniae
Haemophilus influenzae
Gastroschisis vs exomphalos
Gastroschisis: holr in abdominal wall - intestines come out NOT protected in a sac - needs immediate surgery
Exomphalos (omphalocoele) : Abdominal contents come through abdo wall, covered in amniotic sac - surgery done in stages
What is the mx of hydroceles in the newborn?
refer at 1 yr, usually self-resolve
What is osgood-schlatter disease?
Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
What is patellar tendonitis?
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
what is 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
cystic hygroma vs branchial cyst?
cystic hygroma - congenital lymphatic lesion, left side of neck, present from birth
branchial cyst - oval, mobile cystic mass that develops between the sternocleidomastoid muscle and the pharynx, present early adulthood
Thyroglossal cyst presentation?
More common in patients < 20 years old
Usually midline, between the isthmus of the thyroid and the hyoid bone
Moves upwards with protrusion of the tongue
May be painful if infected
PLS guidelines?
give 5 rescue breaths
check for signs of circulation
infants use brachial or femoral pulse, children use femoral pulse
15 chest compressions:2 rescue breaths (see above)
chest compressions should be 100-120/min for both infants and children
Gross motor milestones?
raise head - 2m
roll over -4m
sit -6m
crawl/ pulls up -9m
walk -12m
squats and picks up- 18m
runs -2yr
kick ball 2.5 yrs
stairs -3yr
hops -4 yrs
Fine motor/ visual milestones
6w- follows objects with eyes
6m - palmar grip, transfer hand to hand
9m- 10m - princer grip
12m- two brick tower
18m - four bricks, scribbles
2 yrs - eight bricks, draws line
3 yrs - draws circle, uses scissors
4 yrs - draws cross,
5yrs - draws triangle, 12 blocks, small beading
Language milestones?
coo - 2 m
haha - 4m
babble - 6m
mama + dada, know name- 9m
1 word, told commands- 12 m
combine 2 words -2 yrs
short sentences -3 yrs
social milestones?
smiles -2m
focus on sound -4m
stranger danger -6m
peek a boo -9m
waves bye , uses cup-12m
use spoon and fork - 3yrs
dresses self, plays with others, has best friend - 4yrs
imaginitive play - 4.5- 5yrs
Barlow vs Ortolani manouvere in DDH?
Galeazzi sign?
Barlow (break) before Ortolani (relocate), B before O
galezzi sign used when 3-6 m, hips and knees flexed to 90 degrees and height compared to see if ?unequal
What is presentation for Osteochondritis dissecan?
Fragment of bone detaches due to poor blood supply so fragment and cartilage move around in joint –> locks
Pain after exercise
Intermittent swelling and locking
exclusion criteria for different childhood illnesses?
No exclusion for hand, foot and mouth
24 hours after commencing antibiotics for diagnosis of scarlet fever.
2 days after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics) is instead appropriate for a diagnosis of whooping cough.
4 days from onset of rash is appropriate for a diagnosis of measles.
5 days from onset of rash is appropriate for a diagnosis of rubella.
All lesions crusted over is appropriate for a diagnosis of chickenpox.
5 days from onset of swollen glands is inppropriate for a diagnosis of mumps.
Until symptoms have settled for 48 hours is appropriate for a diagnosis of infectious gastroenteritis.
Until lesions are crusted and healed, or 48 hours after commencing antibiotic treatment is appropriate for a diagnosis of impetigo.
Neurfibroma 1 vs 2
NF1- Cafe au lait spots, Axillary/inguinal freckling, optic glioma, Pheochromocytoma, neurofribromas, lisch nodules on eyes
NF2- cafe au lait spots, Bilateral vestibular schwannoma, Meningioma, Ependymoma (spinal tumour), Bilateral cataracts, schwanommas (skin nodules)
Digeorge syndrome?
CATCH-22 acronym: Cardiac anomalies, Anomalous face, Thymus aplasia/hypoplasia, Cleft palate, Hypocalcemia, affected chromosome 22.
may cause immune deficiency
Prader-willi syndrome?
floppy
short
insatiable appetite
hypogonadism
ID
What is west syndrome?
spasms between 3-8m
Draw up knees and flex arms, head and neck
progressive LD
WHat is charcot-marie-tooth?
A group of progressive hereditary nerve disorders (typically autosomal dominant). Usually caused by defects in proteins involved in the function and structure of axons and/or the myelin sheath. Typical manifestations include distal muscle weakness and atrophy, sensory deficits, and foot deformities (e.g., high arches, hammer toes, inverse champagne bottle legs)
Duchenne vs beckers muscular dystrophy?
Duchenne is more severe and presents earlier than beckers - wont be able to walk by age 12 in duchennes
Both have muscle wasting, raised CK, at risk of cardiomyopathy + arrthymias
Who is albinism more common in white or black ppl?
black ppl
WHat is considered pathological jaundice?
Jaundice in the first 24 hrs of life or after 2 weeks in term babies and 3 weeks in pre-term babies
What are thw causes of neonate jaundice?
normal - breast fed babies, physiological jaundice (will cause unconjugated bilirubin)
pre-hepatic- Haemolysis eg rhesus/ ABO incompatibility or blood disorder eg G6PD def; metabolic disorder eg hypothyroid, alpha anti 1 trypsin def
hepatic - sepsis, Gilbert’s syndrome and Crigler-Najjar syndrome
post-hepatic - biliary atresia
Transient tachyponea of the newborn vs respiratory distress syndrome?
transient tachyponea of the newborn - delay in clearance of foetal fluid - more common in term neonates delivered by c-section (fluid not squeezed out like in PV delivery)
Respiratory distress syndrome - from being <34 weeks birth as dont have enough surfactant –> respiratory distres syndrome
cause of bilateral purulent discharge and lid swelliing in <5 days old?
gonococcal conjuncitivits- pick up during delivery, needs prompt trestment
features of ewings sarcoma?
osteolysis and onion skin appearance
2nd most common bone tumour in children 5-15
systemic features eg fever
What sign is seen on lateral neck x-ray in epiglottitis?
thumbprint
What are the features of myotonic dystrophy
Myotonic dystrophy = cataracts, frontal balding and muscle weakness, AD inheritance, presents when young, has anticipation in inheritance
Kawasakis vs scarlet fever? mx of both?
kawasaki - fever over 5 days, conjunctivitis, crackles lips, swollen hands/ feet. Mx with IV IG and high dose aspirin
Scarlet fever: sandpaper rash. Mx with Pen V 10 days
