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Paediatrics > PASSMED > Flashcards

PASSMED Flashcards

1
Q

what is kleinfelters syndrome

A

47, XXY

Features
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels

Diagnosis is by chromosomal analysis

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2
Q

kallman syndrome

A

delayed puberty secondary to hypogonadotrophic hypogonadism.

X linked recessive trait
- failure of GnRH

LACK OF SMELL IN BOY W DELAYED PUBERTY

Features
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height

Cleft lip/palate and visual/hearing defects are also seen in some patients

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3
Q

What is androgen insensitivity syndrome

A

x-linked recessive
end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype

Features
‘primary amenorrhoea’
undescended testes causing groin swellings
breast development may occur as a result of conversion of testosterone to oestradiol

Diagnosis
buccal smear or chromosomal analysis to reveal 46XY genotype

Management
counselling - raise child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy

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4
Q

contraindications to MMR

A

12-15 months
3-4 years apart

  • severe immunosuppression
  • allergy to neomycin
  • children who have received another live vaccine by injection within 4 weeks
  • pregnancy should be avoided for at least 1 month following vaccination
  • immunoglobulin therapy within the past 3 months (there may be no immune response to the measles vaccine if antibodies are present)

Adverse effects
malaise, fever and rash may occur after the first dose of MMR. This typically occurs after 5-10 days and lasts around 2-3 days

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5
Q

rotavirus vaccine

A

oral, live attenuated vaccine

  • 2 doses - 2 months then second at 3 months
  • if given after 14w + 6 days 2nd is 23 w +6 d RISK OF INTUSUSSCEPTION
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6
Q

Where to feel pulse in <1 year and >1 year

A

<1 year -> brachial and femoral

> 1 year -> femoral and carotid

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7
Q

common causes of ambiguous genitalia

A

CAH

Male pseudohermaphroditism is a cause of ambiguous genitalia, but a rare one, external genitalia are female or ambiguous and testes usually present.

Cryptorchidism is undescended testes. It is common at birth, occurring in 1-5% of newborns, but the genitalia is not ambiguous.

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8
Q

define caput succedaneum

A

swelling or oedema of infant scalp shortly after delivery - beneath scalp above periosteum

cephalohaematoma - blood pulling below the periosteum

chignon - ventouse suction cap

subaponeurotic haem - bleeding between periosteum and subgaleal

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9
Q

Bow legs

A

1st-2nd yr
increased intercondylar distance
Typically resolves by the age of 4-5 years

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10
Q

knock knees

A

3rd-4th yr
Increased intermalleolar dista1nce
typically resolves spontaneously

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11
Q

features of growing pains

A

never present at the start of the day after the child has woken
no limp
no limitation of physical activity
systemically well
normal physical examination
motor milestones normal
symptoms are often intermittent and worse after a day of vigorous activity

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12
Q

features of chickenpox

A

Fever initially
Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
Systemic upset is usually mild

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13
Q

vaccine

features of measles

A

1st dose –1yr, 2nd dose – 3yrs 4months

Prodrome: irritable, conjunctivitis, fever
Koplik spots: white spots (‘grain of salt’) on buccal mucosa
Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent

isolate 4 days after the rash appears

  • otitis media: the most common complication
  • pneumonia: the most common cause of death
  • encephalitis: typically occurs 1-2 weeks following the onset of the illness)
  • subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
  • febrile convulsions
  • keratoconjunctivitis, corneal ulceration
  • diarrhoea
  • increased incidence of appendicitis
  • myocarditis

Post-exposure prophylaxis can be offered with the MMR vaccine within 3 days of exposure to contacts.

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14
Q

features of mumps

A

Fever, malaise, muscular pain

Parotitis (‘earache’, ‘pain on eating’): unilateral initially then becomes bilateral in 70%

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15
Q

features of rubella

A
  • Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day
  • Lymphadenopathy: suboccipital and postauricular
  • NOTIFIABLE DISEASE

5 days after rash appears avoid pregnant women
Congenital rubella has a triad of deafness, blindness, congenital heart disease.

thrombocytopenia and encephalitis

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16
Q

erythema infectiosum/slapped cheek

which pts are more at increased risk of complications

A 
Caused by parvovirus B19
- Lethargy
- fever
- headache
'Slapped-cheek' rash spreading to proximal arms and extensor surfaces
	Immunocompromised patients 
	Pregnant women
	Those with haematological conditions eg. 
-	Sickle cell anaemia
-	Thalassaemia
-	Hereditary spherocytosis
-	Haemolytic anaemia
These patients need serology testing for parvovirus to confirm the diagnosis and assess the FBC and reticulocyte for aplastic anaemia.
	Aplastic anaemia
	Encephalitis or meningitis
	Pregnancy complications – including foetal death
	Hepatitis
	Myocarditis
	Nephritis
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17
Q

scarlet fever features

A

be kept off school until 24hrs after starting antibiotics. - NOTIFIABLE DISEASE

Reaction to erythrogenic toxins produced by Group A haemolytic streptococci

  • Fever
  • malaise
  • tonsillitis
  • ‘Strawberry’ tongue
  • Rash - fine punctate erythema sparing the area around the mouth (circumoral pallor) sandpaper skin
  • cervical lymphadenoapthy
  • flushed face

Mx
- phenoxymethylpenicillin (Penicillin V) for 10 days.

complication

  • otitis media
  • develop post-streptococcal glomerulonephritis
  • acute rheumatic fever from the group A strep infection.
  • bacteraemia infection
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18
Q

hand foot and mouth disease

A

Caused by the coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet

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19
Q

roseola infantum

A

features

  • sudden onset of high fever lasting (3-5 days) -> emergence of a maculopapular rash on the 4th day -> following the resolution of the fever
  • nagayama spots - papular enanthem on the uvula and soft palate
  • febrile convulsions
  • diarrhoea and cough

rash starts in trunk and limbs

Human herpes virus 6 + 7 -> complication - encephalitis and febrile fits
aseptic meningitis
hepatitis

incubation period of 5-15 days and typically affects children aged 6 months to 2 years.

The main complication is febrile convulsions which occur due to high temperature. Immunocompromised patients are at higher risk of rarer complications eg. myocarditis, thrombocytopenia and Guillain-Barre syndrome

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20
Q

define precocious puberty

A

‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females

May be classified into:

  1. Gonadotrophin dependent (‘central’, ‘true’)
    due to premature activation of the hypothalamic-pituitary-gonadal axis
    FSH & LH raised
  2. Gonadotrophin independent (‘pseudo’, ‘false’)
    due to excess sex hormones
    FSH & LH low

Males - uncommon and usually has an organic cause

Testes
bilateral enlargement = gonadotrophin release from intracranial lesion
unilateral enlargement = gonadal tumour
small testes = adrenal cause (tumour or adrenal hyperplasia)

21
Q

foetal varicella syndrome

A

skin scarring, eye defects (small eyes, cataracts or chorioretinitis), neurological defects (reduced IQ, abnormal sphincter function, microcephaly)

22
Q

chickenpox

A

infective 4 days before rash, 5 days after the rash first appeared

fever initially
itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
systemic upset is usually mild

Mx
keep cool trim nails
calamine solution

Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).

immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered

NSAIDs may increase this risk
whilst this commonly may manifest as a single infected lesion/small area of cellulitis, in a small number of patients invasive group A streptococcal soft tissue infections may occur resulting in necrotizing fasciitis

rare complications

23
Q

features of eczema

A
  1. in infants the face and trunk are often affected
  2. in younger children eczema often occurs on the extensor surfaces
  3. in older children a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
Mx
- avoid irritants
- simple emollients 10:1 w steroids
topical steroids
- wet wraps and oral ciclosporin
24
Q

acute lymphoblastic leukaemia

A

most common malignancy

2-5
BOYS>GIRLS

anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae

  • bone pain (secondary to bone marrow infiltration)
  • splenomegaly
  • hepatomegaly
  • fever is present in up to 50% of new cases (representing infection or constitutional symptom)
  • testicular swelling
Poor prognostic factors
age < 2 years or > 10 years
WBC > 20 * 109/l at diagnosis
T or B cell surface markers
non-Caucasian
male sex
25
Q

what is achondroplasia

A

AD short stature

short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis

26
Q

what is retinoblastoma

A

AD
diagnosis age 18m

absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems

Mx
enucleation is not the only option
depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation

V.GOOD PROGNOSIS 90% adulthood they go to

27
Q

most common cause of hypothyroidism

A

autoimmune thyroiditis

post total-body irradiation (e.g. in a child previous treated for acute lymphoblastic leukaemia)
iodine deficiency (the most common cause in the developing world)
28
Q

erythema toxicum neonatorum

A
  • Migratory raised erythematous rash concentrated on the trunk.
    • Overlying papules or pustules containing eosinophils.
    • Onset at 2-3 days and resolves spontaneously after 3-5 days.
    • Pathogenesis unclear.
29
Q

atopic dermatitis

A

• Presents with dry, erythematous itchy skin (note skin breakdown from scratching).
• Distribution differs with age:
• Infants: face, neck, scalp and extensor surfaces. Nappy area is mostly spared.
• Childhood: Flexural surfaces (antecubital and popliteal fossae)
Volar aspect of the wrists; neck and ankles.
• Majority of infantile eczema will resolve.
• Eczema more wet and weepy in infants; can be thickened and pigmented in children.

30
Q

what is milia

A
  • Sometimes referred to as ‘milk spots’.
    • White papules present at birth found most commonly on the nose and cheeks.
    • Caused by build up of sebaceous material in skin follicles.
31
Q

Transient neonatal pustular melanosus

A

• Benign idiopathic condition present at birth.
• Distinctive features of vesicles, superficial pustules and pigmented macules.
• Occur on forehead, chin, neck, chest, back and buttocks and less commonly palms
and soles.
• Vesicles rupture easily and resolve within 48 hours leaving macules that persist for
several months.

32
Q

seborrhoeic dermatitis

A

Self-limiting eruption of non-inflammatory erythematous greasy plaques.

• Occurs in early infancy (<1 month) and can last to 12 months.
• Distribution favours the scalp (also called ‘cradle cap’), behind the ear, eyebrows and
nasolabial folds as these are rich in sebaceous glands.
• Can spread to flexures and napkin area.
• In contrast to eczema it is not itchy and infant is not disturbed.

Mx

  1. mild-moderate: baby shampoo and baby oils
  2. severe: mild topical steroids e.g. 1% hydrocortisone
33
Q

what is chronic urticaria

A

duration for at least 6 weeks

Chronic spontaneous urticaria (previously Chronic idiopathic urticaria) – no
identifiable cause.
• Chronic inducible urticaria:
• Physical triggers by cold, delayed pressure, heat contact, solar.
• Other causes: water (aquagenic), sweating (cholinergic), exercise induced

34
Q

what is acute urticaria

Mx

A

hives- rasied papules/ass pruritisu
resolves within 6 weeks

Mx
high dose cetrizine 4x

35
Q

Mx of atopic dermatitis

A

antihistamines - for the itch
at night a sedating one NOT ROUTINE

dermol as soap subsititue

hydromol ointment

mild strength topical steroids

36
Q

mild
moderate
potent
very potent

A

Mild 1% hydrocortisone, 2.5% hydrocortisone, Synalar 1 in 10

Moderate Eumovate, Betnovate RD, Synalar 1 in 4

Potent Betnovate, Metosyn, Synalar

Very potent Dermovate,

37
Q

First sign of puberty in male

A
  • first sign is testicular growth at around 12 years of age (range = 10-15 years)
  • testicular volume > 4 ml indicates onset of puberty
  • maximum height spurt at 14
38
Q

first sign of puberty in females

A
  • first sign is breast development at around 11.5 years of age (range = 9-13 years)
  • height spurt reaches its maximum early in puberty (at 12) , before menarche
  • menarche at 13 (11-15)
    there is an increase of only about 4% of height following menarche
39
Q

what is plaigocephaly

A

skull deformity producing unilateral occipital flattening, which pushes the ipsilateral forehead ear forwards producing a ‘parallelogram’ appearance

imorove by 3-5 age

40
Q

hypotonia in infants

A 
downs
prader willi
cerebral palsy
acutely unwell child
hypothyroidism
41
Q

typical sites of NAI

A

a. Head/neck: Ears – especially pinch marks involving both sides of ear.
Black eyes, especially if bilateral.
Soft tissues of cheeks.
Intra-oral injuries.
b. Torso: The [triangle of safety’: ears, side of face and neck, top of shoulders.
Back and side of trunk except over the bony spine.
Chest and abdomen.
Any groin or genital injury.
c. Limbs: Forearms – when raised to protect self.
. Inner aspects of arms or thigh.
Soles of feet.

42
Q

RFs of NAI

A

Child
a. failure to meet parental expectations and aspirations, e.g. disabled, ‘wrong’ gender,
‘difficult’ child.
b. born after forced, coercive, or commercial sex.

  1. Parent/carer
    a. mental health problems
    b. parental indifference, intolerance, or over-anxiousness

c. alcohol, drug abuse.
3. Family
a. step-parents
b. domestic violence.
c. multiple/closely spaced births.
d. social isolation or lack of social support.
e. young parental age.
f. poverty, poor housing.

43
Q

Ix for child abuse

A

bloods

  • clotting screen
  • FBC and film - thrombocytopenia/haemotological malignancies acute lymphocytic leukaemia
  • factor VIIIc haemophilia A
  • VWF - most common inherited bleeding condition
44
Q

which fractures make NAI highly likely

A

spiral fracutres
femoral and humeral

metaphyseal corner fractures - bucket handle fractures - result of shaking

Rib fractures
• especially posterior ribs.
• may have no overlying bruising

  • Skull fractures: suspicious features include:
  • non-parietal skull fracture (a parietal fracture is more suggestive of accidental injury)
  • involves multiple bones
  • crosses sutures; sutural diastasis (widening)
  • depressed fracture
45
Q

Which of the following investigations are considered first-line in a child who presents with a
fracture due to suspected NAI?

A 
calcium
phosphate
ALP
is important to
exclude any underlying metabolic bone disease as a cause for fractures such as Paget’s
disease, hyperparathyroidism

Osteogenesis imperfecta -> blue sclera and skeletal survey - osteoporosis/wormian bones

FBC malabsorption disorders

skeletal survey

46
Q

what steps should be taken for NAI cases

A

A Careful and thorough documentation
B Inform on-call consultant paediatrician
C Inform parents of safeguarding concerns and need to involve partner agencies
D Involvement of police
E Referral to social services

47
Q

what is IVH

A

ventricular system of the brain

  • ass w spontaneity
  • blood may clot and occlude CSF flow, hydrocephalus may result.
  • occurs first 72 hours of birth
  • birth trauma - cellular hypoxia
48
Q

what is Bartter’s syndrome

A

inherited cause - recessive -> severe hypokalaemia - ascending loop of Henle
- normotension

features

  • usually presents in childhood, e.g. Failure to thrive
  • polyuria, polydipsia
  • hypokalaemia
  • normotension
  • weakness
49
Q

causes of HTN in children

A
  • renal parenchymal disease
  • renal vascular disease
  • coarctation of the aorta
  • phaeochromocytoma
  • congenital adrenal hyperplasia
  • essential or primary hypertension (becomes more common as children become older)

Paediatrics (13 decks)

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