PASSMED

Question 1

what is kleinfelters syndrome

Answer 1

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

Question 2

kallman syndrome

Answer 2

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

Question 3

What is androgen insensitivity syndrome

Answer 3

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

Question 4

contraindications to MMR

Answer 4

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

Question 5

rotavirus vaccine

Answer 5

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

Question 6

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

Answer 6

<1 year -> brachial and femoral

> 1 year -> femoral and carotid

Question 7

common causes of ambiguous genitalia

Answer 7

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.

Question 8

define caput succedaneum

Answer 8

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

Question 9

Bow legs

Answer 9

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

Question 10

knock knees

Answer 10

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

Question 11

features of growing pains

Answer 11

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

Question 12

features of chickenpox

Answer 12

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

Question 13

vaccine

features of measles

Answer 13

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.

Question 14

features of mumps

Answer 14

Fever, malaise, muscular pain

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

Question 15

features of rubella

Answer 15

• 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

Question 16

erythema infectiosum/slapped cheek

which pts are more at increased risk of complications

Answer 16

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

Question 17

scarlet fever features

Answer 17

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

Question 18

hand foot and mouth disease

Answer 18

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

Question 19

roseola infantum

Answer 19

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

Question 20

define precocious puberty

Answer 20

‘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)

Question 21

foetal varicella syndrome

Answer 21

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

Question 22

chickenpox

Answer 22

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

Question 23

features of eczema

Answer 23

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

Question 24

acute lymphoblastic leukaemia

Answer 24

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

Question 25

what is achondroplasia

Answer 25

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

Question 26

what is retinoblastoma

Answer 26

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

Question 27

most common cause of hypothyroidism

Answer 27

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) ```

Question 28

erythema toxicum neonatorum

Answer 28

- 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.

Question 29

atopic dermatitis

Answer 29

• 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.

Question 30

what is milia

Answer 30

- 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.

Question 31

Transient neonatal pustular melanosus

Answer 31

• 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.

Question 32

seborrhoeic dermatitis

Answer 32

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

Question 33

what is chronic urticaria

Answer 33

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

Question 34

what is acute urticaria Mx

Answer 34

hives- rasied papules/ass pruritisu resolves within 6 weeks Mx high dose cetrizine 4x

Question 35

Mx of atopic dermatitis

Answer 35

antihistamines - for the itch at night a sedating one NOT ROUTINE dermol as soap subsititue hydromol ointment mild strength topical steroids

Question 36

mild moderate potent very potent

Answer 36

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,

Question 37

First sign of puberty in male

Answer 37

- 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

Question 38

first sign of puberty in females

Answer 38

- 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

Question 39

what is plaigocephaly

Answer 39

skull deformity producing unilateral occipital flattening, which pushes the ipsilateral forehead ear forwards producing a 'parallelogram' appearance imorove by 3-5 age

Question 40

hypotonia in infants

Answer 40

``` downs prader willi cerebral palsy acutely unwell child hypothyroidism ```

Question 41

typical sites of NAI

Answer 41

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.

Question 42

RFs of NAI

Answer 42

Child a. failure to meet parental expectations and aspirations, e.g. disabled, ‘wrong’ gender, ‘difficult’ child. b. born after forced, coercive, or commercial sex. 2. 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.

Question 43

Ix for child abuse

Answer 43

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

Question 44

which fractures make NAI highly likely

Answer 44

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

Question 45

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

Answer 45

``` 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

Question 46

what steps should be taken for NAI cases

Answer 46

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

Question 47

what is IVH

Answer 47

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

Question 48

what is Bartter's syndrome

Answer 48

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

Question 49

causes of HTN in children

Answer 49

- 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)