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MSRA > Paeds > Flashcards

Paeds Flashcards

1
Q

Describe Fragile X syndrome

A

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

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2
Q

Describe Patau’s syndrome

A

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.

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3
Q

Describe Edward;s syndrome

A

Edward’s syndrome (Trisomy 18) presents with growth retardation, severe intellectual disability, microcephaly, overlapping fingers, rocker-bottom feet, congenital heart disease and other anomalies.

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4
Q

Describe Williams syndrome

A

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

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5
Q

Describe Pierre-Robin syndrome

A

triad of micrognathia (small lower jaw), glossoptosis (downward displacement or retraction of the tongue) and airway obstruction.

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6
Q

Most common causitive agent of bronchiolitis vs croup?

A

Respiratory syncytial virus for bronchiolitis
Parainfluenza virus for croup

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7
Q

What is osgood-schlatters disease?

A

Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle

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8
Q

What is Chondromalacia patellae?

A

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

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9
Q

What is patellar tendonitis?

A

More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination

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10
Q

What is perthes syndrome? Presentation? What does it show on xray? What is the management?

A

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

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11
Q

Describe Noonans syndrome

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
short
ptosis

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12
Q

What differentiates different causes of precocious puberty in boys?

A

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

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13
Q

What is Slipped upper femoral epiphysis typical presentation?

A

10-15 years, obese
Limp

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14
Q

How does transient synovitis present?

A

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

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15
Q

What is patent ductus arteriosus? Presentation? Mx?

A

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

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16
Q

What is HUS? What causes it? Presentation? Mx?

A

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

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17
Q

What causes scarlet fever?

A

Group A haemolytic streptococci (usually Streptococcus pyogenes)

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18
Q

Mx of bow legs in young children?

A

Bow legs in a child < 3 is a normal variant and usually resolves by the age of 4 years

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19
Q

What murmur is associated with Turner’s syndrome?

A

Turner’s syndrome is associated with an ejection systolic murmur due to bicuspid aortic valve

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20
Q

What murmur does VSD cause?

A

Pansystolic murmur.

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21
Q

Use of caffeine in neonates?

A

Helping wean off ventilator - increases RR

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22
Q

What makes a murmur innocent in a child?

A

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

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23
Q

What complication can u get from kawasakis and how do u look for it?

A

Echocardiogram- coronary artery aneurysms

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24
Q

Why are babies offered vit K at birth?

A

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

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25
Q

What can be used to prevent RSV?

A

Palivizumab is a monoclonal antibody which is used to prevent respiratory syncytial virus (RSV) in children who are at increased risk of severe disease.

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26
Q

What are the features of down syndrome?

A

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

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27
Q

Abx for mengitis in kids >3m and <3m

A

< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone)

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27
Q

strabismus vs ambylopia?

A

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

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28
Q

What tests are done to detect strabismus?
Mx of strabismus

A

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

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29
Q

what is Juvenile myoclonic epilepsy

A

Juvenile myoclonic epilepsy is a genetic generalised epilepsy syndrome including absence, myoclonic and generalised tonic-clonic seizures.

30
Q

what is the triad for shaken baby syndrome?

A

Retinal haemorrhages, subdural haematoma and encephalopathy is the triad of the shaken baby syndrome

31
Q

nocturnal enuresis mx?

A

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

32
Q

Limp in a child? main differentials

A

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

33
Q

When should children with glue ear be referred to ENT?

A

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

34
Q

How are capillary haemangiomas treated if requiring intervention eg on eyes/ airway

A

propranolol

35
Q

When is the blood spot screening/ heel prick test done? What does it look for?

A

5th-9th day of life
Looks for sickle cell, CF, hypothyroidism, phenylketonuria (PKU), and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

36
Q

How do you manage CMPA in formula fed babies?

A

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

37
Q

Describe the process for newborn resuscitation?

A

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

38
Q

What is twin-to-twin-syndrome?

A

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

39
Q

When should undescended testis be referred?

A

6 months

40
Q

How do you ix/ what would you see in intussusception?

A

ultrasound is now the investigation of choice and may show a target-like mass

41
Q

What is kallmanns syndrome? How does it present?

A

delayed puberty secondary to hypogonadotropic hypogonadism. X-linked recessive trait. failure of GnRH-secreting neurons to migrate to the hypothalamus.

will have loss of sense of smell

42
Q

Malrotation vs NEC?

A

Malrotation is most common in babies <30 days of age. It tends to present with bilious vomiting. The abdomen is typically soft and non-tender initially, but if not treated, it leads to strangulation of the gut.

Necrotising enterocolitis usually presents in neonates with abdominal pain, swelling, diarrhoea with bloody stool, green/yellow vomit, lethargy, refusal to eat, and lack of weight gain. It is more common in premature babies and tends to have a more insidious course, rather than presenting in an acutely unwell and dehydrated neonate.

43
Q

Classifications of squints?

A

classified as to where the eye deviates toward the nose: esotropia
temporally: exotropia
superiorly: hypertropia
inferiorly: hypotropia

44
Q

How to mx hernias in babies? umbilical vs inguinal

A

Inguinal hernia - get IN to surgery
Umbilical hernia - Um maybe I’ll wait (till 3)

45
Q

What is koshers criteria in child with a limp?

A

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

46
Q

What does congenital rubella syndrome look like?

A

classic triad of sensorineural deafness, eye abnormalities and congenital heart disease

47
Q

How does congenital CMV infection look like?

A

Antenatal cytomegalovirus infection can cause cerebral calcification, microcephaly and sensorineural deafness.

48
Q

How does parvovirus B19 affect the fetus?

A

Parvovirus B19 causes hydrops fetalis and death.

49
Q

How does toxoplasmosis affect the fetus?

A

Toxoplasmosis causes intracranial calcification, hydrocephalus and epilepsy in the affected child.

50
Q

Presentation of Roseola infantum?

A

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.

51
Q

How does varicella zoster affect the fetus?

A

scarring of the skin, limb hypoplasia, microcephaly and eye defects.

52
Q

What is benign rolandic epilepsy?

A

Benign rolandic epilepsy is characterised by partial seizures at night

53
Q

What is the common congenital heart defect in downs syndrome?

A

Atrioventricular septal defects are the most common congenital cardiac abnormality in Down’s syndrome

54
Q

What can cause oligohydramnios?

A

Renal agenesis (Potter sequence) is a cause of oligohydraminos as the amniotic fluid is mainly derived from foetal urine.

55
Q

What is the pathophysiology of turner’s syndrome?

A

Will have primary amenorrhoea and not 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. Patients with Turner’s syndrome have little to no sex hormones including estradiol, meaning negative feedback is not exerted on FSH and LH. T

56
Q

What is the pathophysiology of Androgen insensitivity syndrome?

A

Causes primary amenorrhoea and little/ no secondary sex characteristics. Will have undescended testes

X-linked recessive condition characterised by end-organ resistance to testosterone, causing genetically male children (46XY) to have a female phenotype.

57
Q

What is the pathophysiology of Congenital adrenal hyperplasia ?

A

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 leading to surplus progesterone which is converted to extra testosterone to reduce the levels of progesterone.

58
Q

duodenal atresia vs meconium ileus?

A

Both present with obstuction

Meconium ileus - Meconium is thick and cannot pass. Associated with CF. Presents first few days of life

Duodenal atresia -duodenum closed off, presents in first few hrs of life. Double bubble sign on XR

59
Q

Which congenital heart disease are cyanotic? (5Ts and a P)

A

Tetrology of Fallot
Trasposition of the Great Arteries
Tricuspid atresia
Truncus arteriosus
Total anomalous pulmonary venous return

Pulmonary stenosis

60
Q

What are bilateral acoustic neuromas associated with?

A

Neurofibroma type 2

61
Q

What is henoch-schonlein purpura?

A

A IgA vasculitis –> palpable non-blanching rash (buttocks and extensors), follows URTI
abdo pain
arthirtis
IgA nephropathy

Mx = supportive

62
Q

Intitial mx of hirschprungs disease?

A

rectal washouts/bowel irrigation

63
Q

Ages of cut off for precocious puberty?

A

development of secondary sexual characteristics before 8 years in girls and 9 years in boys

64
Q

measles v rubella

A

Measles is characterised by prodromal symptoms, Koplik spots. maculopapular rash starting behind the ears and conjunctivitis

rubella - lymphadenopathy

65
Q

Do premature babies get their vaccines earlier?

A

babies who were born prematurely should receive their routine vaccinations according to chronological age; there should be no correcting for gestational age.

66
Q

What is the most common causitive agents of meningitis in:
neonates- 3m
older than 3m

A

neonates - 3m:
Group B strep
e.coli
listeria

> 3m
Neisseriameningitidis
Streptococcuspneumoniae
Haemophilus influenzae

67
Q

Gastroschisis vs exomphalos

A

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

68
Q

What is the mx of hydroceles in the newborn?

A

refer at 1 yr, usually self-resolve

69
Q

What is osgood-schlatter disease?

A

Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle

70
Q

What is patellar tendonitis?

A

More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination

71
Q

what is Chondromalacia patellae?

A

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

72
Q

cystic hygroma vs branchial cyst?

A

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

73
Q

Thyroglossal cyst presentation?

A

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

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