Paediatrics Flashcards

1
Q

In X-linked Recessive disease, what are the chances of the a heterozygous female having a female offspring who is a carrier?

A

50% of female - carriers

50% of male- affected

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2
Q

What is Turner syndrome?

A

Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.

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3
Q

Features of Turner syndrome?

A

Physical features: short stature, shield chest, widely spaced nipples, webbed neck, high-arched palate, short fourth metacarpal, cubitus valgus, multiple pigmented naevi

CVD: bicuspid aortic valve (15%), coarctation of the aorta (5-10%)

Sexual function: primary amenorrhoea

Neonatal: cystic Hygroma (often diagnosed prenatally), lymphoedema in neonates (especially feet)

IX: gonadotrophin levels will be elevated
hypothyroidism is much more common in Turner’s
horseshoe kidney: the most common renal abnormality in Turner’s syndrome

ABCD - Amennorhea, below normal height, CHD, Dysmorphism

Additional features: patients are a wide carrying angle, down-sloping eyes with partial ptosis, and low posterior hairline.

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4
Q

What is the frequency of toiletting in children in different age groups

A

Generally frequent of opening bowel ↓ as age increases

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5
Q

Common causes of constipation in kids

A
  • Idiopathic (Majority)
  • Dehydration
  • Low-fibre diet
  • Medications (Eg: Opiates)
  • Anal fissure
  • Over-enthusiastic potty training
  • Hypothyroidism
  • Hirschsprung’s disease
  • Hypercalcaemia
  • Learning disabilities
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6
Q

Red flags of constipation

A

Failure to pass meconium within 24h of life - Hirschsprung disease

Faltering growth / Growth failure- Hypothyroidisim, coeliac disease

Gross abdominal distension- Hirschsprung disease and other GI dysmobility

Abnormal lower limb neurology / deformity (Eg: Talipes / Secondary urinary incontinence) - Lumbosacral pathology

Sacral dimple above natal cleft - Spinal Bifida Occulta
Over the spine there is:
•	Naevus 
•	Hairy patch 
•	Central pit 
•	Discoloured skin

Abnormal appearance / postion / patency of anus
Perianal bruising / multiple fissures - Abnormal anorectal anatomy

Perianal fistulae / abscesses / fissures - Perianal Crohn’s disease

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7
Q

Examination findings of constipated child

A

o Normal growth
o Soft abdomen
o Abdominal distension that is normal for age
o Normal appearance & positions of back and perianal area
o Palpable soft faecal mass (Maybe) - not required fro diagnosis

 DRE SHOULD NOT BE PERFORMED:
o But may sometimes considered by a paediatric specialist to identify:
 Anatomical abnormalities
 Hirschsprung disease

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8
Q

Treatment for constipation

A
  1. Disimpaction/ mild symptom control :
    Movicol (Disimpaction regimen - increase dose every 1-2 wks)
    + senna (if not adequate with just movicol)
  2. Long term laxative therapy - maintenance
    Movicol - 6mths
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9
Q

Asthma treatment in children 5-16y old

A
  1. SABA
  2. SABA + paediatric low dose ICS
  3. SABA+ paediatric low dose ICS+ LTRA
  4. SABA + paediatric low dose ICS + LABA
  5. SABA + switch ICS/LABA for MART
  6. SABA + paediatric moderate dose ICS MART/mixed dose of moderate-dose ICS+ separate LABA
  7. SABA + high dose ICS/ Theophylline/ seek advice from healthcare professional
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10
Q

Asthma treatment in children <5y olds

A
  1. SABA
  2. SABA + 8 week trial of moderate dose inhaled corticosteroid
    If symptoms did not resolve - consider alternate Dx
    If symptoms resolve but reoccur within 4wks stopping ICS - restart ICS at paediatric low dose
    If symptoms resolved but reoccur> 4wks stopping ICS - repeat 8-week trial of paediatric moderate dose of ICS
  3. SABA+ paediatric low dose ICS+ LTRA
  4. Stop LTRA+ reer to paediatric asthma specialist

NO MART USAGE IN <5y OLD!!!!!!!

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11
Q

What is the commonest cause of stridor in children?

A

Croup/ Acute laryngotracheobronchiolitis
• Commonly affect children aged 6mths to 6yrs
Occurs mostly in autumn

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12
Q

How to differentiate croup from other infection such as laryngotracheitis?

A

Similar as acute laryngotracheitis BUT lack usual signs of infection; eg:

Fever
Sore throat
↑WBC

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13
Q

Types of croup and causes

A

Viral croup: Acute laryngotracheitis, spasmodic croup
Causes: parainfluenza virus, Influenza A/B, Measeles, Adenovirus and RSV

Bacterial croup: Laryngeal diphtheria due to Corynebacterium diphtheria

Common secondary bacterial after viral infection inc:
S. aureus (Most commonly cause bacterial tracheitis)

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14
Q

What is the most common DDx for Croup and how do you differentiate?

A

Need to differentiate viral croup & acute epiglottitis

If patients present severely – consider epiglottitis!!! (Respiratory distress usually mild in croup)
Coryzal symtpoms present in croup
Fever not present in croup
cyanosis uncommon in croup
mouth drooling present in epiglottitis
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15
Q

Precautions when examining patients with croup?

A

DON’T examine the throat (Risk of airway obstruction)

 For BOTH croup & acute epiglottitis

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16
Q

How is croup diagnosed?

A

Diagnosed based on History + Examination

Take a careful assessment of severity inc:
 Degree of stridor & subcostal recession
 RR
 HR
 LOC (drowsiness) / Tiredness / Exhaustion
 SpO2

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17
Q

Symptoms of mild croup

A
  • Seal-like barking cough
  • NO stridor
  • No sternal/intercostal recession at rest
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18
Q

General symptoms of croup

A
S&amp;S
o	“Barking” cough (Acute – often in middle of night)
o	Stridor (Usually nosiest when upset)
o	Hoarse voice 
o	Coryzal (For preceding days)

• In spasmodic / recurrent croup (A subgroup of viral croup):
o Usually seen in:
 Older children
 Atopic children
o May have no precipitating respiratory infection

S&S
o “Barking” cough
o Hyperreactive upper airways
o + NO apparent respiratory tract symptoms

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19
Q

Symptoms of moderate croup

A
  • Seal-like barking cough
    • Stridor at rest
    • Sternal recession at rest
  • NO agitation
  • NO lethargy
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20
Q

Symptoms of severe croup

A
  • Seal-like barking cough
    • Stridor at rest
    • Sternal/intercostal recession at rest
    • Agitation / lethargy
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21
Q

Symptoms of croup - Impending Respiratory Failure

A

↑-ing upper airway obstruction - Stridor
+ Sternal/intercostal recession
Degree of recession may ↓ as the child becomes tired
+Asynchronous chest wall & abdominal movement
+ Fatigue
+ Pallor / Cyanosis

***RR > 70breaths/min = Indicative of severe respiratory distress

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22
Q

Hospital admission strategy for croup patients

A

ADMIT:
o Moderate
o Severe
o Impending respiratory failure

CONSIDER ADMISSION:
• For children with RR > 60 breaths / min
• Mild illness but with:
o Chronic lung disease (inc bronchopulmoanry dysplasia)
o Haemodynamically sig congenital heart disease
o Neuromuscular disorders
o Immunodeficiency
o Age <3mths
o Inadequate fluid intake
o Poor carer’s ability
o Longer distance to healthcare in case of deterioration

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23
Q

Management of Croup

A

1) Assess severity
2) Admit?
3) Treat:

Before hospital = Oral dexamethasone/ prednisolone

At hospital = O2 (if sats low); inhaled budenoside / IM dexamethasone if the oral pred not given

Not getting btr = high flow oxygen + Nebulized adrenaline

 Very severe = Intubation

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24
Q

First line treatment for croup

A

CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity

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25
Q

Treatment for acute epiglottitis

A
  • Intubation

* Antibiotics

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26
Q

What is APGAR Score?

A

The Apgar score is a method to quickly summarise the health of newborn children against infant mortality

Appearance, Pulse , Grimace, Activity, Respiration (AGPAR)

Skin colour, pulse rate, reflex irritability grimace, muscle tone, respiratory effort

≥7 Normal

4-6 Fairly low

≤3 Critically low & Need immediate resuscitative efforts

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27
Q

What are the signs of a healthy newborn?

A

A healthy newborn will be pink with good tone and will cry within seconds of being delivered. The heart rate of a healthy newborn infant is 120-150bpm. This infant has poor tone, is gasping for air and a low heart rate. As no changes are noted on reassessment and the heart rate has fallen this warrants compressions.

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28
Q

What is the newborn resuscitation protocol?

A

Newborn resuscitation

  1. Dry baby and maintain temperature
  2. Assess tone, respiratory rate, heart rate
  3. If gasping or not breathing give 5 inflation breaths*
  4. Reassess (chest movements)
  5. If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1

*Inflation breaths are different from ventilation breaths. The aim is to sustain pressure to open the lungs.

Reassess heart after every 30 seconds. If HR is undetectable consider venous access and drugs
•	Assess &amp; reassess every 30s:
o	Tone
o	Breathing rate 
o	HR
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29
Q

Physiology behind hypoxia in new borns

A

Passage thru birth canal causes hypoxia for fetus:
Because significant respiratory exchge at placenta is prevented for 50-75s during each contraction

1) If sufficient hypoxia in utero, fetus ↑ RR
2) If hypoxia continues, fetus loses consciousness
3) Then neural centres controlling breathing cease to fx = Primary apnoea
(Until now, HR remains unchg)
(*In newborn, HR doesn’t ↑ when hypoxic!)

4) HR ↓ to ~half the normal rate
Because myocardium reverts to anaerobic metabolism (also leads to metabolic acidosis)

5) If the hypoxia continues, shuddering initiated by primitive spinal centres:
Shuddering = Whole-body gasps at ~12times/min

6) If shuddering fails to aerate the lungs (eg: Due to fetus still in utero), shuddering stops

7) Fetus enters Secondary / Terminal apnoea
(Until now, circulation is maintained)

8) The metabolic acidosis starts impairing cardiac fx
9) Heart fails

***The whole process takes ~20mins in term newborn human baby

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30
Q

Why Aerating the lungs > important than Circulation?

A

By aerating lungs sufficiently: (Given that circulation is preserved (in most cases))

1) Oxygenated blood from lung to heart
2) HR ↑
3) Perfuse brain with oxygenate blood
4) Neural centres for normal breathing restore
5) Baby recovers

When cardiac fx deteriorated & circulation compromised:
o Chest compression
o Drugs (if chest compression NOT enuf) – Poor prognosis for the infants

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31
Q

Neonatal physiological reaction to asphyxia

A

Neonates react to birth asphyxia by maintaining tissue aerobiosis as long as possible by:

↓ Body temperature
↓ HR & redistribution of circulation (Hence newborn HR doesn’t ↑ during asphyxia!)
↓ RR (Hypoxic hypometabolism)
↓ Blood pH (Acidotic torpidity)

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32
Q

Pathogenesis of osetochondritis dissecans

A
  1. An area of subchondral bone becomes avascular & fragments
  2. The fragments separate from underlying bone
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33
Q

Epidemiology of osetochondritis dissecans

A

Most common age of presentation is between 12 and 19 years2 (age of presentation is decreasing likely due to the decreasing age of children participating in active sports )

• Boys > Girls

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34
Q

Risk factors for osetochondritis dissecans

A
Trauma
Male
Genetic
Iscahemia 
Abnormal epiphyseal ossification
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35
Q

Symptoms of osetochondritis dissecans

A

Patients typically present with a subacute onset of:

Knee pain and swelling, typically after exercise, BUT NO Hx of Acute trauma or Injury

Knee catching, locking and/or giving way - more constant and severe symptoms are associated with the presence of loose bodies - intermittent swelling and locking

Feeling a painful ‘clunk’ when flexing or extending the knee - indicating the involvement of the lateral femoral con

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36
Q

Investigations for osetochondritis dissecans

A

Investigations:

X-ray (anteroposterior, lateral and tunnel views) - may show the subchondral crescent sign or loose bodies

MRI - used to evaluate cartilage, visualise loose bodies, stage and assess the stability of the lesion

CT - may be used in preoperative planning and in cases where MRI is not available or contraindicated

Scintigraphy - may be used to guide treatment as it may show increased uptake in the fragments - a sign of osteoblastic activity

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37
Q

Prognosis of osetochondritis dissecans

A

Risk of articular fracture with separation & loose body formation ↑ if:
↑ Age
Large lesions
At weight-bearing location

Worse prognosis with large lesions in lateral femoral condyle in older children

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38
Q

Common sites affected in osetochondritis dissecans

A
Most commonly affect lateral aspect of medial femoral condyle; but may also occur in other major joints; eg:
o	Elbow (Capitellum) 
o	Lateral condyle of patella (Less common)
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39
Q

Causes of Acute epiglottitis

A

• Haemophilus influenza type b

children between the ages of 2 and 6 years
• Rare now (due to routine HiB immunization)

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40
Q

Typical features of of Acute epiglottitis

A
Features
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
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41
Q

Presentation of Acute epiglottitis

A
  • High fever
  • Child rapidly become unwell
  • Missed immunization for HiB

• Symptoms:
o Dysphagia
o Sore throat

•	Signs:
o	Flushed
o	Drooling
o	Toxic-looking
o	Sitting upright (in tri-pod position)
o	With soft stridor
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42
Q

Management of Acute epiglottitis

A
  1. Endotracheal intubation
  2. Then managed in intensive care unit
  3. Take blood cultures
  4. Start IV antibiotics:
    o 2nd / 3rd generation cephalosporin IV for 7-10d:
     Cefuroxime
     /Ceftriaxone
     /Cefotaxime
  5. Prophylaxis to close contacts:
    o Rifampicin
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43
Q

Risk factors of DDH

A
FH (1:5)
Female > Male (5:1)
Left > Right (1.5:1)
First born child
Racial predilection; ↓ risk in:
	African Americans
	Southern Chinese
Breech presentation 
Oligohydramnios
Birth weight > 5 kg
Congenital calcaneovalgus foot deformity

Fat, female, first born , foot-first and family history

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44
Q

Association of DDH with other conditions

A
o	Torticollis (20%)
o	Metatarsus adductus (10%)
o	Talipes calcaneovalgus
o	Teratologic disolication 
o	Down’s syndrome
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45
Q

Screening for DDH

A

The following infants require a routine ultrasound examination:

  1. First-degree family history of hip problems in early life
  2. Breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
  3. Multiple pregnancy

All infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests

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46
Q

Ix for DDH

A

• US = To confirm the Dx; 6 wks scan for:
o All breech presentation
o +ve Barlow & Ortolani duing newborn screening

If >4.5mth old child with suspected DDH - perform X-ray

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47
Q

management of DDH

A
  • Most unstable hips spontaneously stabilize by 3-6 wks of age!
  • If younger than 4-5 mths = Pavlik harness (Dynamic flexion-abduction orthosis)
  • If older children = Require surgery
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48
Q

Features of Pierre Robin syndrome? And how do you you differentiate it from treacher collins syndrome?

A
  • Micrognathia
  • Posterior displacement of tongue (May result in upper airway obstruction)
  • Cleft palate

 Very similar to Treacher-Collins syndrome
o 1 Key difference = Treacher-Collins syndrome is AD (So usually FH of similar problems!)
o Pierre-Robin usually –ve FH!

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49
Q

Features of Fragile X syndrome

A

X-linked dominant disease - FMR 1 gene

Features in males:

Learning difficulties - very common feature
Large low set ears, long thin face, high arched palate
Macroorchidism
Hypotonia
Autism is more common
Mitral valve prolapse - heart defect

generalised seizures also common

Features in females (who have one fragile chromosome and one normal X chromosome) range from normal to mild

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50
Q

Diagnosis of Fragile X syndrome

A

Can be made antenatally by chorionic villus sampling or amniocentesis
Analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis

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51
Q

A 4-year-old boy is noted to have macrocephaly and learning difficulties. What is the most likely diagnosis?

A

Fragile X syndrome

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52
Q

A 7 month old girl presents with vomiting and diarrhoea. She is crying and drawing her legs up. There is a a sausage shaped mass in the abdomen.

A

Intussusception

Sausage shaped mass (colon shaped) is common in intussusception. The other common sign is red jelly stool.

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53
Q

A 48 hour old neonate develops increasing abdominal distension. He had a normal delivery but has yet to pass any meconium. Following digital rectal examination liquid stool is released.

A

Hirschsprung disease

Hirschsprungs may present either with features of bowel obstruction in the neonatal period or more insidiously during childhood. After the PR there may be an improvement in symptoms. Diagnosis is by full thickness rectal biopsy.

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54
Q

A 1 month old baby girl presents with bile stained vomiting. She has an exomphalos and a congenital diaphragmatic hernia.

A

Exomphalos and diaphragmatic herniae are commonly associated with malrotation.

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55
Q

What is the commonest abdominal emergency in children?

A

Acute appendicitis

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56
Q

Presentation of acute appendicitis

A

• Periumbilical pain moving to RIF pain:
o Aggravated by movement
o Child may prefer to lie still + knees flexed

• Mild fever (Usually)

• Guarding:
o Due to peritoneal irritation causing involuntary spasm in muscles of the abdominal wall

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57
Q

Diagnosing Acute appendicitis

A
  • Dx of appendicitis = Clinical
  • ‘Classical’ S&S of acute appendicitis seen in 60% of cases

• 30% of children admitted to hospital with abdominal pain have acute appendicitis:
o Only 50-70% of these cases are obvious at initial assessment
o If in doubt, should admit for observation

• Urinalysis:
o Abnormal in ~1/3 children with acute appendicitis
o May have:
 Pyuria
 Bacteriuria (Avoid staring antibiotics due to suspected UTI!!! Unless there are symptoms of dysuria!!!)

• WCC:
o Normal in 10-20% of children with appendicitis

• US = Ix of choice if clinically in doubt!!!
o Accuracy of diagnosing acute appendicitis ~90%

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58
Q

Management of appendicitis

A

• Prompt appendicectomy (Paediatric Surgeon!)

• Antibiotics: Piperacillin/tazobactam? (Taken from adult OCHB) (reduces wound infection)
o Longer course for perforation

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59
Q

What age group is intussusception most common in?

A
  • Usually affect infants btwn 6 – 18 mths of age

* 1/500 children

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60
Q

Aetiology of intussusception?

A

• Viral gastroenteritis (Majority of intussusception!)

• Post-operative:
o In infants
o Typically following nephrectomy

• A polyp / Meckel’s diverticulum:
o Causes pathological lead point

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61
Q

Common sites of intussusception?

A
o	Ileocolic (Commonest!)
o	Ileo-ileal (Involves 2 different parts of ileum)
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62
Q

Features of intussusception?

A

Colicky pain, diarrhoea and vomiting, sausage-shaped mass, red jelly stool.

Child appears ill and dehydrated
Spams of colic - pallor, screaming and drawing up legs
Later states of obstruction- Rectal bleeding (‘Red currant jelly stools)

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63
Q

Examination findings of intussusception?

A
  • Sausage-shaped abdominal mass in RUQ (in 30% of cases)

* Blood on rectal examination

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64
Q

Investigation of intussusception?

A

• AXR:
o Small bowel obstruction
o Occasionally soft tissue mass will be visible

US confirms the diagnosis!!!!
o Target sign (AKA bulls eye)

• Contrast enema:
o Traditional & most reliable way to Dx

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65
Q

Management of intussusception?

A

Surgical:
• 1st line = Reduction by rectal air insufflation (Pneumatic reduction) under radiological control

o CI = Gangrenous intussusception
o Risk:
 Incomplete reduction
 Perforation (Dangerous! May develop tension pneumoperitoneum rapidly!)
So prepare 2 cannula in case need to resuscitate!

• 2nd line = Laparotomy:
o If pneumatic reduction fails / CI
o Gangrenous intussusception should be treated with laparotomy
Also if child has signs of peritonitis

o Method:

  1. Distal bowel gently compressed to reduce intussusception
  2. If fails = Resection of intussusception
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66
Q

What is Meckel’s diverticulum

A

o A persistence of embryonic vitelline duct that normally involutes during late foetal development

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67
Q

Presentation of Meckel’s diverticulum?

A

Majority = Asymptomatic

If symptomatic:
(Most common PC):Rectal bleeding!!!!!!:
	Painless
	Fresh blood 
	Sufficient to cause ↓ Hb

May then followed by:
Intestinal obstruction
/Volvulus
/Intussusception

Abdominal pain (Maybe) -  Sometimes may present similarly to acute appendicitis:
Situated in distal ileum 
So if presence of diverticulitis will lead to periumbilical pain!

Pain- Difficult to distinguish from acute appendicitis!!!!!

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68
Q

DDx for Meckel’s Diverticulum

A

o Appendicitis

o Diverticulitis

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69
Q

Complications of Meckel’s Diverticulum?

A

• Haemorrhage - Presence of gastric and pancreatic mucosa –> secretion of gastric acid –> ulceration –> pain and bleeding (due to perforation)
• Intestinal obstruction
• Diverticulitis -
o Periumbilical tenderness
o Intermittent crampy abdominal pain
o Peritonitis (If perforation)
• Umbilical anomalies
• Neoplasm

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70
Q

Ix for Meckel’s Diverticulum

A

• 99mTc-pertechnetate isotope scan (AKA Meckel’s scan):

o Ix of choice to dx MD

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71
Q

What is the first line treatment if Hirschsprung’s disease is suspected?

A

Anorectal pull through - Surgical technique to remove the affected bowel

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72
Q

Gold standard investigation to confirm diagnosis of Hirschsprung’s disease

A

Full thickness rectal biopsy

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73
Q

First line treatment if Hirschsprung’s disease is suspected but not confirmed?

A

Bowel irrigation and washout to allow the passage of meconium

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74
Q

Pathophysiology of Hirschsprung’s disease

A

Hirschsprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.

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75
Q

What is the presentation of Hirschsprung’s disease

A

Possible presentations
neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension

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76
Q

Risk factors of Hirschsprung’s disease

A

3 times more common in males

Down’s syndrome

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77
Q

What is the most common cause of massive painless bleeding per rectum children?

A

Meckel’s diverticulum is the number one cause of painless massive GI bleeding

requiring a transfusion in children between the ages of 1 and 2 years.

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78
Q

Treatment for Meckel’s diverticulum

A

Removal if narrow neck or symptomatic. Options are between wedge excision or formal small bowel resection and anastomosis.

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79
Q

Which age group is UTI most common in children?

A

> Common in boys until 3 mths of age (Due to > congenital abnormalities)

If > 3mths old: Incidence substantially higher in girls

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80
Q

What are the features of UTI in infants?

A

Presentation in childhood depends on age:

Infants: poor feeding, vomiting, irritability

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81
Q

What are the features of UTI in younger children?

A

Younger children: abdominal pain, fever, dysuria

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82
Q

What are the features of UTI in older children?

A

Older children: dysuria, frequency, haematuria

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83
Q

Features suggestive of upper UTI

A

Features which may suggest an upper UTI include: Temperature > 38ºC, loin pain/tenderness

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84
Q

What are the guidelines for checking urine sample in a child?

A

NICE guidelines for checking urine sample in a child:

  1. If there are any symptoms or signs suggestive or a UTI
  2. With unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
  3. With an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)
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85
Q

What is the method of urine collection in children?

A

Urine collection method:

Clean catch is preferable

If not possible then urine collection pads should be used

Cotton wool balls, gauze and sanitary towels are not suitable

Invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible

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86
Q

Mx of UTI if child is <3mths old?

A

Infants less than 3 months old should be referred immediately to a paediatrician

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87
Q

Mx of UTI if child is >3mths old with suspected upper UTI?

A

Children aged more than 3 months old with an upper UTI should be considered for admission to hospital.

If NOT admitted = Give oral antibiotics for 7-10d; eg:
o Cephalosporin
o /Co-amoxivlac

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88
Q

Mx of UTI if child is >3mths old with suspected lower UTI?

A
Treated with oral antibiotics for 3d according to local guidelines; eg:
o	Trimethorpime
o	/Nitrofurantoin 
o	/Cephalosporin
o	/Amoxicillin

Parents should be asked to bring the children back if they remain unwell after 24-48 hours

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89
Q

When do you give prophylactic antibiotics for UTI?

A

Antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs

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90
Q

By what age do children achieve day and night continence?

A

By age 3-4

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91
Q

What is the definition of enuresis?

A

Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’

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92
Q

Types of nocturnal enuresis?

A

Nocturnal enuresis can be defined as either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)

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93
Q

Supportive management of nocturnal enuresis?

A
  1. Look for possible underlying causes/triggers (e.g. Constipation, diabetes mellitus, UTI if recent onset)
  2. Advise on fluid intake, diet and toileting behaviour
  3. Reward systems (e.g. Star charts). NICE recommend these ‘should be given for agreed behaviour rather than dry nights’ e.g. Using the toilet to pass urine before sleep
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94
Q

Definitive management of nocturnal enuresis in children less than 7 years of age?

A

An enuresis alarm is first-line for children under the age of 7 years

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95
Q

Definitive management of nocturnal enuresis in children over than 7 years of age?

A

Desmopressin may be used first-line for children over the age 7 years, particularly if short-term control is needed or an enuresis alarm has been ineffective/is not acceptable to the family

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96
Q

You are the FY1 on a paediatric ward, one of your patients is a 14-year-old female with anorexia. She is currently refusing to be tube fed. You assess her capacity and deem that she has the capacity to refuse. However, neither of her parents agree with her decision. What do you do?

A

Inform her that she is under 16 and cannot refuse treatment

The family law reform act of 1969 states that ‘those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees’.

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97
Q

What are the guidelines for children to provide consent?

A
  1. At 16 years or older a young person can be treated as an adult and can be presumed to have capacity to decide
  2. Under the age of 16 years children may have capacity to decide, depending on their ability to understand what is involved
  3. Where a competent child refuses treatment, a person with parental responsibility or the court may authorise investigation or treatment which is in the child’s best interests*
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98
Q

What are the Fraser guidelines for provision of contraceptives to patients under 16 years of age?

A

All the requirements needs to be fulfilled:

The young person understands the professional’s advice

The young person cannot be persuaded to inform their parents

The young person is likely to begin, or to continue having, sexual intercourse with or without contraceptive treatment

Unless the young person receives contraceptive treatment, their physical or mental health, or both, are likely to suffer

The young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent

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99
Q

A 16-year-old girl comes to your GP surgery worried that she has not yet started her periods. She is quite short, has a webbed neck, low set ears and widely spaced nipples. A heart murmur is heard on auscultation. What type of murmur are you most likely to hear?

A

Turner syndrome is associated with Biscupid aortic valve and coarctation of the aorta

Biscupid aortic valve –> Aortic stenosis –> Systolic murmur loudest at the aortic valve and can be heard at the carotids

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100
Q

What is the genetic abnormality in turner syndrome?

A

It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.

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101
Q

Features of turner syndrome ?

A

Amennorhea - underdeveloped ovaries
Below normal height
CHD–> bicuspid aortic valve, CoA
Dysmorphism: low set ears, webbed neck, shied chest (widely spaced nipples), high arched palate, short fourth metacarpal, cubitus valgus

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102
Q

Conditions associated with Turner syndrome

A

Increase in autoimmune conditions:
1. Hypothyroidism –> autoimmune thyroiditis

  1. Horse show kidney –> renal function decreases (the most common renal abnormality in Turner’s syndrome)
  2. Crohn’s disease
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103
Q

A newborn is due for her hearing screening test. She was born at 36 weeks with no complications during the pregnancy, via a normal vaginal delivery. Which of the following tests is most appropriate to use in a child of this age?

A

Automated otoacoustic emission test –> A computer generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea

If abnormalities detected —> perform Auditory brainstem response test

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104
Q

Hearing test in 6-9 mth olds?

A

Distraction test - Performed by health visitor, requires two trained staff

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105
Q

Hearing test in 18 mth-2.5y olds?

A

Recognition of familiar objects - Uses familiar objects e.g. teddy, cup. Ask child simple questions - e.g. ‘where is the teddy?’

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106
Q

Hearing test in over 2.5y olds?

A

Performance testing

Speech discrimination tests - Uses similar sounding objects e.g. Kendall Toy test, McCormick Toy Test

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107
Q

Hearing test in over 3y olds?

A

Pure tone audiometry - Done at school entry in most areas of the UK

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108
Q

A 30-year-old man presents with severe pain in the left hip it has been present on and off for many years. He was born at 39 weeks gestation by emergency caesarean section after a long obstructed breech delivery. He was slow to walk and as a child was noted to have an antalgic gait. He was a frequent attender at the primary care centre and the pains dismissed as growing pains. X-rays show almost complete destruction of the femoral head and a narrow acetabulum.

A

Developmental dysplasia of the hip. Usually diagnosed by Barlow and Ortolani tests in early childhood. Most Breech deliveries are also routinely subjected to USS of the hip joint. At this young age an arthrodesis may be preferable to hip replacement.

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109
Q

A 6-year-old boy presents with pain in the hip it is present on activity and has been worsening over the past few weeks. There is no history of trauma. He was born by normal vaginal delivery at 38 weeks gestation On examination he has an antalgic gait and limitation of active and passive movement of the hip joint in all directions. C-reactive protein is mildly elevated at 10 but the white cell count is normal.

A

This is a typical presentation for Perthes disease. X-ray may show flattening of the femoral head or fragmentation in more advanced cases.

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110
Q

An obese 14-year-old boy presents with difficulty running and mild knee and hip pain. There is no antecedent history of trauma. On examination internal rotation is restricted but the knee is normal with full range of passive movement possible and no evidence of effusions. Both the C-reactive protein and white cell count are normal.

A

Slipped upper femoral epiphysis (SUFE) is the commonest adolescent hip disorder. It occurs most commonly in obese males. It may often present as knee pain which is usually referred from the ipsilateral hip. The knee itself is normal. The hip often limits internal rotation. The diagnosis is easily missed. X-rays will show displacement of the femoral epiphysis and the degree of its displacement may be calculated using the Southwick angle. Treatment is directed at preventing further slippage which may result in avascular necrosis of the femoral head.

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111
Q

Pathophysiology behind Perthes disease?

A

Idiopathic osteonecrosis (Avascular necrosis) of femoral head. Impaired blood supply to the femoral head causes bone infarction.

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112
Q

Age group affected by Perthes disesae?

A

4-8 years

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113
Q

Risk factors of Perthes disease?

A
  • Boys > Girls (5:1) !!!!!!!
  • Age 4-10yo
  • <20% bilateral (Usually staged + Asymmetric) !!!!!!!!
  • FH (10%)
  • Low birth weight
  • Children with transient synovitis (4%)
  • Delayed skeletal maturity
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114
Q

Possible aetiologies of Perthes disease?

A

Risk factors/Possible causes:
o Trauma

o Endocrine:
 Hypothyroidism
 Renal disease
 Steroid

o Metabolic

o	Coagulability
	Blood dyscrasia
	Protein C deficiency
	Protein S deficiency 
	Thrombophilia
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115
Q

Associated conditions with Perthes disease?

A

ADHD and short stature

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116
Q

Features of Perthes disease?

A

Painless limp (Classical feature)

IF Hip pain: develops progressively over a few weeks
Mild/intermittent pain in:
 Anterior thigh
 /Groin

Limp

Stiffness and reduced range of hip movement

Knee pain - always suspect hip pathology!!!!!

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117
Q

What is the most important DDx for Perthes disease and how do you differentiate from it?

A

SUFE - Slipped upper femoral epiphysis

To distinguish from SUFE:
• Age!!! (SUFE commonest in 10-15yo)
• Risk factors!!! (Overweight / tall thin)

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118
Q

Signs of Perthes disease

A

Look:

Proximal thigh atrophy: Trendelenburg +ve
Mild short stature 
Limping
Antalgic gait (Common)

Feel:

Effusion (due to synovitis)
Groin/thigh tenderness

Move:

↓ Hip range of movement; esp: Abduction, Internal rotation
Muscle spasm

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119
Q

Classical picture of Perthes disease

A
  • 4-10yo
  • Progressive
  • Pain/Painless limp
  • Limited ROM of hip
  • Short stature
  • ADHD
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120
Q

Investigation for Perthes disease

A

AP & Lateral Pelvic X-ray = 1st line
o Lateral pillar (Herring) classification – For prognosis

Technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist

MRI: (If X-ray NOT conclusive)
o Hlp dx (esp in early stages – Harder to be detected by Xray)

Technetium 99 bone scan:
↓ Uptake in femoral epiphysis due to poor vascular supply

Dynamic arthrography: (Carried out under general anaesthesia)- To delineate hip joint, Plan surgery

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121
Q

Prognosis of perthes disease?

A

o Bone age
o X-ray appearances

Most cases will resolve with conservative management. Early diagnosis improves outcomes.

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122
Q

Complications of Perthes disease

A

Osteoarthritis

premature fusion of the growth plates

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123
Q

Names of classification and staging for Perthes disease?

A
Catterall staging
Lateral Pillar (Herring) Classification
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124
Q

What are the X-ray changes in Perthes disease?

A

Early changes include widening of joint space,
Later changes include decreased femoral head size/flattening

Gage’s Sign
 V-shaped radiolucency in lateral portion of epiphysis and/or adjacent metaphysis

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125
Q

Management of Perthes disease?

A

To keep the femoral head within the acetabulum: cast, braces

<6 yo Observation

> 6 yo Surgical Mx (Moderate results)
Operate on severe deformities -• Femoral / Pelvic osteotomies to contain femoral head in acetabulum

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126
Q

Commonest cause of croup

A

Parainfluenza virus

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127
Q

When do you admit croup patients?

A

CKS suggest admitting any child with moderate or severe croup.

Other features which should prompt admission include:
< 6 months of age

Known upper airway abnormalities (e.g. Laryngomalacia, Down’s syndrome)

Uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)

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128
Q

Who is necrotising enterocolitis more common in?

A

Incidence increases with prematurity

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129
Q

Pathogenesis of NEC

A

Bowel of preterm infant –> vulnerable to ischaemic injury –> bacterial invasion

Mesenteric ischaemia leads to bacterial invasion of mucosa –> sepsis

commonly affects : terminal ileum, caecum and distal colo

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130
Q

Risk factors for NEC

A

Ischaemic injury
bacterial invasion
Fed only cow’s milk formula > fed on breast milk

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131
Q

Presentation of NEC

A

Typically presets in the first few weeks of life

Early signs:
Feeding intolerance 
Vomiting (may be bile stained) 
Abdominal distension 
stool contains blood (sometimes)

Infant may rapidly become shocked: require mechanical ventilation due to abdominal distension/ pain

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132
Q

Complications of NEC

A

Bowel perforation - detected using AXR/ Translumination of the abdomen

Long-term sequelae - stricture, malabsorption

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133
Q

Gold standard investigation for diagnosis of NEC

A

Abdominal X-ray

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134
Q

Features of AXR in NEC

A
  1. Dilated bowel loops (often asymmetrical in distribution)
  2. Bowel wall oedema
  3. Pneumatosis intestinalis (intramural gas) !!!!!!!!- important sign
  4. Portal venous gas
  5. Pneumoperitoneum resulting from perforation
  6. Air both inside and outside of the bowel wall (Rigler sign)
  7. Air outlining the falciform ligament (football sign)
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135
Q

Management of NEC

A
  1. Stop Oral feed
  2. Barrier nursing
  3. Broad-spectrum antibiotics (GMC: Gentamicin + metronidazole + ceftriaxone)
  4. Parenteral nutrition - always needed
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136
Q

Prevention of NEC

A

Supplement milk feeds with prebiotics and probiotics

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137
Q

A 2-week-old infant is brought to the emergency department with abdominal distension and tenderness. The parents describe that there has been a small amount of blood in her nappy and some bilious vomit. Over the last couple of days the parents have noticed decreased movement and that she is struggling to feed.

Relevant history is that she was born at 28 weeks following premature rupture of membranes.

Best Investigation for diagnosis?

A

AXR to eliminate NEC

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138
Q

Features of childhood sexual abuse in children

A
  1. Pregnancy
  2. Sexually transmitted infections, recurrent UTIs
  3. Sexually precocious behaviour
  4. Anal fissure, bruising
  5. Reflex anal dilatation
  6. Enuresis and encopresis
  7. Behavioural problems, self-harm
  8. Recurrent symptoms e.g. headaches, abdominal pain
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139
Q

Ages of precocious puberty

A

8 y- females

9y - males

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140
Q

Types of precocious puberty

A
  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
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141
Q

Cyanotic cardiac conditions in children?(3Ts)

A

Tetralogy of Fallot
Transposition of the great arteries (TGA)
Tricuspid atresia

Fallot’s is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot’s generally presenting at around 1-2 months

The presence of cyanosis in pulmonary valve stenosis depends very much on the severity and any other coexistent defects.

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142
Q

Acyanotic cardiac conditions?

A
  1. Ventricular septal defects (VSD) - most common, accounts for 30%
  2. Atrial septal defect (ASD)
  3. Patent ductus arteriosus (PDA)
  4. Coarctation of the aorta
  5. Aortic valve stenosis

VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally presents later.

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143
Q

What is the pathogenesis of reflex anoxic seizure?

A

Reflex anoxic seizure describes a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli. It is thought to be caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes.

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144
Q

Age groups affected by reflex anoxic seizure?

A

6mths - 3 years

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145
Q

Typical features of reflex anoxic seizure?

A

Typical features:

child goes very pale
falls to floor
secondary anoxic seizures are common
rapid recovery

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146
Q

Epidemiology of biliary atresia?

A

Females> males
Asians and africans > Caucasians
common within same family

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147
Q

Types of biliary atresia?

A

Type 1: The proximal ducts are patent, however, the common duct is obliterated

Type 2: There is atresia of the cystic duct and cystic structures are found in the porta hepatis

Type 3: There is atresia of the left and right ducts to the level of the porta hepatis, this occurs in >90% of cases of biliary atresia

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148
Q

Presentation of biliary atresia?

A

Patients typically present in the first few weeks of life with:

Mild jaundice extending beyond the physiological two weeks
Dark urine and pale stools
Normal brith weight and faltering growth
Hepatolmegaly - presents initially
Splenomegaly - due to portal hypertension

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149
Q

Complications of biliary atresia

A

Progressive liver disease

Cirrhosis with eventual hepatocellular carcinoma

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150
Q

Investigations for diagnosing biliary atresia?

A
  1. Serum bilirubin including differentiation into conjugated and total bilirubin: Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
  2. Liver function tests (LFTs) including serum bile acids and aminotransferases are usually raised but cannot differentiate between biliary atresia and other causes of neonatal cholestasis
  3. Fasting Ultrasound of the biliary tree and liver: May show distension and tract abnormalities. - fast for 8-10 hrs - if not gall bladder may be empty

Dx- confirmed using ERCP !!!!

  1. Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
  2. Sweat chloride test: Cystic fibrosis often involves the biliary tract
  3. Percutaneous liver biopsy with intraoperative cholangioscopy
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151
Q

Management of biliary atresia?

A
  1. Kasai hepatoportoentrostomy - loop of jejunum anastomosed
  2. Supportive medications - fat soluble vit supplementation

If Kasai unsuccessful –> liver transplantation

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152
Q

Important thing to do when baby suspected to have jaundice

A

Always check weight less (>10% weight loss from birthweight)

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153
Q

Causes of jaundice in the first 24 hours

A

Jaundice in the first 24 hrs is always pathological

Causes of jaundice in the first 24 hrs

  1. Rhesus haemolytic disease
  2. ABO haemolytic disease
  3. Hereditary spherocytosis
  4. Glucose-6-phosphodehydrogenase deficiency (G6PD)
  5. Pyruvate kinase deficiency
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154
Q

Causes of jaundice in the 2-14 days

A

Jaundice in the neonate from the c. 2-14 days is common (up to 40%) and usually physiological. It is more commonly seen in breast fed babies

  1. Physiological jaundice
  2. Breast milk jaundice
  3. Infection (UTI)
  4. Haemolysis
  5. Bruising
  6. Polycythemia
  7. Criggler-Najjar syndrome
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155
Q

What is prolonged jaundice and how is it diagnosed?

A

Signs of jaundice after 14 days is a prolonged jaundice

Prolonged jaundice screen:
• conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
• direct antiglobulin test (Coombs’ test)
• TFTs
• FBC and blood film
• urine for MC&S and reducing sugars
• U&Es and LFTs

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156
Q

What are at risk groups for underestimating jaundice?

A

Preterm babies
Dark-skin tone

Low threshold to measure SBR for these infants

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157
Q

Causes of prolonged jaundice

A

Unconjugated
• hypothyroidism
• urinary tract infection
• breast milk jaundice

Conjugated
• biliary atresia
• galactosaemia
• congenital infections e.g. CMV, toxoplasmosis

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158
Q

What causes hand, foot and mouth disease?

A

Self-limiting condition affecting children

Caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71)

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159
Q

What is the risk factor for hand, foot and mouth disease?

A

Very contagious and typically occurs in outbreaks at nursery

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160
Q

What are the clinical features of hand, foot and mouth disease?

A

Clinical features

  • mild systemic upset: sore throat, fever
  • oral ulcers
  • followed later by vesicles on the palms and soles of the feet
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161
Q

Management of hand, foot and mouth disease?

A

Symptomatic treatment only: general advice about hydration and analgesia

Children do not need to be excluded from school ***

The HPA recommends that children who are unwell should be kept off school until they feel better
They also advise that you contact them if you suspect that there may be a large outbreak.

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162
Q

Cardiac conditions associate with turner syndrome

A

Turner syndrome (45 XO) is associated with:
Bicuspid aortic valve
Aortic root dilatation
Coarctation of the aorta

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163
Q

What are the prodromal symptoms of measles

A

3 Cs
1. Cough
2. Coryzal
3 Conjunctivitis - non purulent

+ Koplik spots (Before the rash starts)

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164
Q

What are the potential complications associated with measles

A
  1. Otitis media: the most common complication!!
  2. Pneumonia: the most common cause of death!!!!
  3. Encephalitis: typically occurs 1-2 weeks following the onset of the illness)
  4. Subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness!!!
  5. Febrile convulsions
  6. Keratoconjunctivitis, corneal ulceration
  7. Diarrhoea
  8. Increased incidence of appendicitis
  9. Myocarditis
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165
Q

Describe spread of rash in measles

A

Starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent

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166
Q

Investigation for diagnosing measles

A

IgM antibodies - can be detected within a few days of rash onset

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167
Q

A male child from a travelling community is diagnosed with measles. Which one of the following complications is he at risk from in the immediate aftermath of the initial infection?

A

Pneumonia - immediately after infection

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168
Q

What is the infectivity period of measles

A

prodrome - 4 days post-rash

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169
Q

Management of measles

A

supportive and Abx for secondary infections

Vitamin A supplementation - prevent complications such as otitis media, viral pneumonia, encephalitis, or corneal ulceration.

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170
Q

A 7-year-old boy presents to the GP with a 4-day history of a sore throat, fever of 38.1ºC and lymphadenopathy. On examination, the patient’s tongue is very red. The patient also has a rough rash on their skin.

A

Scarlet fever

This patient is most likely presenting with scarlet fever. The rough rash this patient has presented with is said to feel like sandpaper which is a characteristic feature of scarlet fever.

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171
Q

What are the symptoms of scarlet fever

A
fever: typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
'strawberry' tongue
sandpaper rash - torso first
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172
Q

Describe the rash seen in scarlet fever

A

Fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles. Children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures. It is often described as having a rough ‘sandpaper’ texture. Desquamination occurs later in the course of the illness, particularly around the fingers and toes

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173
Q

Causative organism of scarlet fever

A

Group A haemolytic streptococci (usually Streptococcus pyogenes)

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174
Q

Diagnosis and management of scarlet fever?

A

a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results

oral penicillin V for 10 days

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175
Q

Complications of scarlet fever?

A
  1. Otitis media: the most common complication
  2. Rheumatic fever: typically occurs 20 days after infection
  3. Acute glomerulonephritis: typically occurs 10 days after infection
  4. Invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness
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176
Q

Management of scarlet fever?

A
  1. Oral penicillin V for 10 days
  2. Patients who have a penicillin allergy should be given azithromycin
  3. Children can return to school 24 hours after commencing antibiotics
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177
Q

A 4-year-old girl presents to her GP as her mother is concerned about several symptoms. She has been increasingly fatigued and breathless for the last two weeks, and is complaining of severe pain in both knees. On examination, pallor is seen. A purpuric rash is observed on the legs which has been present for a week. The patient is tachycardic and febrile. Full blood count reveals anaemia, neutropaenia and low platelets.

What is the most likely diagnosis?

A

Acute lymphoblastic leukaemia (ALL) is the most likely diagnosis in this scenario due to the combination of clinical presentation and blood results.

Henoch-Schonlein purpura can cause purpuric rash, joint pain and fatigue, but does not cause low platelets or neutropaenia.

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178
Q

Emergency treatment for the management of croup exacerbation?

A

High flow oxygen + nebulised adrenaline

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179
Q

Most common presenting complains of cystic fibrosis patients?

A
  1. Recurrent chest infections - 40%
  2. Malabsorption - 20%
  3. neonatal period- meconium ileum, less prolonged jaundice
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180
Q

Specific physical features associated with cystic fibrosis

A
  1. short stature (due to malabsorption)
  2. Diabetes mellitus
  3. Delayed puberty
  4. Rectal prolapse (due to bulky stools)
  5. Nasal polyps
  6. Male infertility and female subinfertility
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181
Q

You are called to assist in the resuscitation of a neonate who has just been born at 38 +6 weeks but is showing signs of respiratory distress. On auscultation of the precordium you note the heart sounds are absent on the left hand side but can hear tinkling sounds. The infant is also cyanosed

What is the likely diagnosis and immediate management?

A

Congenital Diagphramatic hernia - characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm.

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182
Q

What is the cause of Roseala Infantum

A

HSV-6

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183
Q

What type of inheritance does alport syndrome have? What is its pathophysiology?

A

Mostly- X linked dominant (more severe in males)
can be autosomal dominant or recessive

Defect of Type IV collagen

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184
Q

What are the features of Alport’s syndrome?

A

can’t pee, can’t see, can’t hear a bee!

  1. Microscopic haematuria –> progressive renal failure
  2. Lenticonus: protrusion of the lens surface into the anterior chamber ; Retinitis pigmentosa
  3. Sensorineural deafness
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185
Q

What is the diganostic testing for Alport’s syndrome and what are the finding?

A

• Molecular genetic testing

• Renal biopsy:
characteristic finding is of the longitudinal splitting of the lamina densa of the glomerular basement membrane, resulting in a ‘basket-weave’ appearance

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186
Q

What are the various sources of infection resposible for post-step glomerulonephritis?

A

Prior infection with group A beta-hemolytic streptococci :

  1. Infection of the mouth and pharynx (tonsillitis, pharyngitis)
  2. Soft tissue infections (erysipelas, impetigo)
  3. Osteomyelitis
187
Q

How do you differentiate IgA nephropathy from post-strep nephropathy?

A
  1. post-streptococcal glomerulonephritis is associated with low complement levels
  2. Main symptom in post-streptococcal glomerulonephritis is proteinuria (although haematuria can occur), whereas in IgA nephropathy there is intervals of gross haematuria
  3. Onset interval:
    IgA nephropathy - immediately after infection (1-2days)
    Post -strep - Takes 1-2 weeks
188
Q

What is the treatment for post streptococcal nephritis?

A

penicillin V - 10 days

nitruprusside - encephalopathy

189
Q

Differentiating cystitis and pyelonephritis?

A

Cystitis - may have no fever , just dysuria (vulvitis, balanitis also present similarly)
Pyelonephritis - fever, systemic involvement

190
Q

What is the best way of collecting urine samples?

A

Clean catch = non-invasive

Uretheral catheter - if urgent
Suprapubic aspiration - under US guidance in severely ill infants

191
Q

What is the triad found in haemolytic uraemic syndrome?

A

o Microangiopathic haemolytic anaemia - RBCs destroyed squeezing through narrowed blood vessels

o Thrombocytopenia - consumption of platelets in small blood vessels

o Acute renal failure

192
Q

What is the treatment for haemolytic uraemic syndrome?:

A
  1. Treatment is supportive e.g. Fluids, blood transfusion and dialysis if required
  2. There is no role for antibiotics, despite the preceding diarrhoeal illness in many patients
  3. The indications for plasma exchange in HUS are complicated. As a general rule plasma exchange is reserved for severe cases of HUS not associated with diarrhoea
    eculizumab (a C5 inhibitor monoclonal antibody) has evidence of greater efficiency than plasma exchange alone in the treatment of adult atypical HUS
193
Q

Child with periorbital oedema and proteinuria is found is have Hep B. What is his diagnosis?

A

Membranous nephropathy

194
Q

What are the features of Henoch Schönlein pupura

A

ROJAK

Rash - palpable purpura below waist - extensor surfaces of arm and ankle

Oedema

Joint pain

Abdominal pain (bowel vasculitis, intussusception) - colicky pain

Kidney - nephritis

195
Q

Dx of Young child with rapidly growing abdo mass and haematuria? How is it managed

A

Wilms tumour

Chemotherapy - followed by delayed nephrectomy

Radiotherapy - restricted to those with more advanced siease

196
Q

Dx of newborn with haematuria

A

Renal venous thrombosis

197
Q

Why should infants not be fed unmodified cows milk?

A

It contains low iron content and is poorly absorbed

198
Q

What is the treatment for IDA?

A

Oral iron - 6mg/kg/day replacement
Sytron - Sodium iron edetate
Niferex - Polysaccharide iron complex

Continue for min of 3mths after resolution to replenish iron stores

199
Q

What are 3 common causes of red cell aplasia?

A

Congenital (Diamond-Blackfan anaemia) –> Gene mutation in ribosomal proteins

Transient erythroblastopenia of childhood –> Triggered by viral infections. Always recovers

Parvovirus B19 infection –> Only in those with haemolytic anaemia

Rare: fanconi anaemia, aplastic anaemia

200
Q

How do you differentiate between Diamond-blackfan anaemia and transient erythroblastopenia?

A

Transient erythoblastopenia usually recovers within several weeks and there is no family history of ribosomal protein gene mutations.

DBA - congenital anomalies - short stature, abnormal thumbs
Tx- oral steroids; monthly red blood cell transfusions - children who are steroid unresponsive

201
Q

What inheritance is hereditary spherocytosis?

A

Autosomal dominant

202
Q

What are the features of herediatry spherocytosis?

A

Intermittent jaundice - Haemolytic jaundice in 1st day of life

Mild anaemia

Mild/moderate splenomegaly - depends on rate of haemolysis

Aplastic crisis - Uncommon, transient. Due to previous B19 infection

Gallstones - Due to increased bilirubin excretion

203
Q

What is the initial investigation for suspected hereditary spherocytosis? and what is the diagnostic test?

A

1st line - blood film

diagnostic - dye binding assay or osmotic fragility

204
Q

What does the treatment of herediatry spherocytosis involve?

A

Mild chronic haemolytic anaemia - PO folic acid to increase RBC production

Severe - Splenectomy

  1. Done after 7 yrs old due to risk of post-splenectomy sepsis
  2. Before procedure, vaccinate against HiB, Meningitis C, Strep Pneumonia
  3. Lifelong daily oral penicillin prophylaxis

Aplastic crisis
From parvovirus B19 infection
1-2 blood transfusion over 3-4wks
Due to no RBC production

205
Q

What type of inheritance does G6PD have and what are the triggers?

A

X-linked inheritance

Triggers of acute haemolysis –> infection, drugs (chloroquine, Co-trimaxazole, ciprofloxacin, Nitrofurantoin), chemicals (Fava beans, mothballs)

206
Q

What are the features of G6PD?

A

Jaundice, pallor and dark urine

Usually neonatal jaundice - first 3 days of life

207
Q

Why can glucose-6-phosphate dehydrogenase measurement be high in G6PD?

A

Increased reticulocytes - cause falsely increased levelsq

208
Q

What are the features of sickle cell anaemia?

A

Anaemia
Infection - microinfarctions in the spleen
Painful crises - vaso-occusive crises (Cold, dehydration, excessive exercise/stress) - acute chest syndrome, avascular necrosis of the femoral head

Acute anaemia - haemolytic crises, aplastic crises, sequestration crises

Priapsim

splenomegaly

209
Q

When is the diagnosis of sickle cell anaemia made?

A

Antenatal - Chorionic villus sampling at the end of the first trimester
Postnatal - Blood spot test (Guthrie test)

210
Q

What is the prophylaxis to be administered in sickle cell?

A

Full childhood immunisation
Daily oral penicillin throughout childhood
Daily oral folic acid - Haemolytic anaemia increases folic acid demand
Minimise triggers

211
Q

What is the treatment of acute crisis in sickle cell?

A
High flow oxygen
Analgesia
Antibiotics (cefotaxime, clarithromycin)
Fluids
Exchange transfusion  For acute chest syndrome, stroke and priapism
212
Q

What is the long term treatment for sickle cell?

A

Hydroxycarbamide/hydroxyurea - Increase HbF producction to help against further crisis
SE: Neutropenia
Teratogenic

Bone marrow transplant

213
Q

What is the characteristic features of fanconi anaemia? And how is it diagnosed?

A
o Short stature
o Abnormal radii &amp; thumbs
o Renal malformations
o Microphthalmia (Small eyes) 
o Pigmented skin lesions
(Children may present with 1/more of these anomalies)
o Signs of bone marrow failure

Dx = ↑ Chromosomal breakage of peripheral blood lymphocytes (used in antenatal diagnosis and prenatal diagnosis)

214
Q

What is increased in Haemophilia?

A

aPTT

215
Q

What is the treatment of haemophilia?

A

Avoid IM injections, NSAIDs, Aspirin

Bleeding episode -
Haemophilia A - IV recombinant VIII concentrate
Haemophilia B - IV recombinant IX concentrate

Chronic -
Prophylactic factor VIII for haemophilia A - Starts 2-3 yrs, 2-3 times a week
Desmopressin (DDAVP) infusion for haemophilia A - Stimulates factor VIII release and Von Willebrand factor

216
Q

How is Beta -thalassaemia treated and what are the associated complications of it?

A

Blood transfusions

Complicatiosn - iron deposition - subcutaenous desferrioxamine or oral iron chelator - deferasirox

217
Q

What is the other thing that is affected in VWF deficiency?

A

Patients with VWFD are also deficient for factor 8, as it is the carrier protein for factor 8

218
Q

How is VWF deficiency treated?

A

Less severe - desmopressin

219
Q

What cardiac abnormalities are caused by rubella infection?

A

Peripheral pulmonary stenosis, PDA

220
Q

What cardiac abnormalities are caused by SLE?

A

complete heart block

221
Q

What cardiac abnormalities are caused by warfarin therpay?

A

Pulmonary valve stenosis, PDA

222
Q

What cardiac abnormalities are caused by foetal alcohol syndrome?

A

ASD, VSD, ToF

223
Q

What cardiac abnormalities are caused by Down syndrome?

A

Atrioventricular septal defect, VSD

224
Q

What cardiac abnormalities are caused by Turner syndrome?

A

Coarctation of the aorta and Aortic valve stenosis

225
Q

What cardiac abnormalities are caused by di george syndrome?

A

Aortic arch anomalies, tetralogy of fallot, common arterial trunk

226
Q

What cardiac abnormalities are caused by williams syndrome (7q11.23 micro-deletion) ?

A

Supravalvular aortic stenosis, peripheral pulmonary artery stenosis

227
Q

What cardiac abnormalities are caused by Noonan syndrome (7q11.23 micro-deletion) ?

A

HOCM, ASD and pulmonary valve stenosis

228
Q

What are the features of an innocent murmur?

A
aSymptomatic 
soft blowing murmur
systolic murmur only, not diatsolic 
left sternal edge 
may vary with posture

Also:
normal heart sounds with no added sounds
no parasternal thrill
no radiation

229
Q

What can cause innocent murmurs?

A

anaemia or febrile illness

Venous hums - Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles

Still’s murmur - low pitched murmur at the left lower sternal edge

230
Q

Causes of heart failure in neonates?

A
  1. Hypoplastic left heart syndrome
  2. Aortic valve stenosis
  3. Severe CoA
  4. Interruption of the aortic arch
231
Q

Causes of heart failure in infants?

A
  1. VSD
  2. AVSD
  3. Large persistent ductus arterosus
232
Q

Causes of heart failure in older children?

A

Eisenmenger sydnrome
Rheumatic heart disease
cardiomyopathy

233
Q

What is the first line Ix for CHD?

Gold standard?

When do you refer to specialist?

A

First line- CXR and ECG

Gold standard - Echocardiography + Doppler US

Refer to specialist if:

  1. Haemodynamically unstable
  2. Heart failure
  3. cyanosis
  4. Oxygen sats <94%
  5. reduced volume pulses
234
Q

Nada, a 5 month old female infant has a fever and runny nose for 2 days. On examination she has a fever of 38.3° C and a runny nose. Her tongue is pink. Her breathing is normal. Pulse is 160 beats/min. Her heart sounds are normal but she has a soft systolic murmur at the left sternal edge. Pulses are normal.

A

Normal

Innocent murmurs can often be heard in children. It is obviously important to be able to distinguish an innocent murmur from a pathological one. During a febrile illness or anaemia, innocent or flow murmurs are often heard because of increased cardiac output.

235
Q

Azam, a 5-year-old boy, presents with frequent chest infections. On examination of the chest there are bilateral crackles at the bases. His heart sounds can be heard throughout the praecordium but are louder on the right. His apex beat is palpable on the right.

A

Dextrocardia with situs inversus

Dextrocardia - associated with primary ciliary dyskinesia (Kartagener syndrome), which is likely to be responsible for his frequent respiratory infections.

Cilia are required to decide the polarity of an embryo. Without adequate ciliary function, the lateralization of organs occurs randomly and therefore approximately half of children will have dextrocardia with situs inversus (stomach on the right and liver on the left).

Isolated dextrocardia with situs solitus (with the stomach and liver in their normal positions) is not a ciliary problem.

236
Q

Jane, a previously fit and well 18-month-old girl, presents with frequent respiratory tract infections and wheeze. On examination there is a fixed and widely split second heart sound, an ejection systolic murmur best heard at the upper left sternal edge.

A

Atrial septal defect

Atrial septal defect - presents with ejection systolic murmur best heard at the upper sternal edge

Increased flow across the pulmonary valve because of the left-to-right shunt.

Fixed and widely split second heart sound is due to the right ventricular stroke volume being equal in both inspiration and expiration

237
Q

Jack is 24 hours old and his mother notices when he is about to breastfeed that he is blue around the mouth. On examination, his tongue looks blue and there is peripheral cyanosis. His respiratory rate is 65 breaths/min. On auscultation of the chest there is no murmur. Pulses in all four limbs can be palpated and
are equal in volume. He is watching you and moving his arms and legs vigorously whilst you examine him.

A

transposition of great arteries

ToF classically presents later in life at 2mth and usually has hypercyanotic spells

238
Q

What antibodies do the children build in DM?

A

o Glutamic acid decarboxylase
o Islet cells
o Insulin

239
Q

Who do you suspect Type 1 DM in?

A

Symptomatic
+ ↑ Random blood glucose (>11.1 mmol/L by current WHO definition)
+ Glycosuria
+ Ketosis

• Other helpful Ix:
o Fasting blood glucose (>7 mmol/L)
o HbA1c

240
Q

Who do you suspect Type 2 DM in?

A

o FH
o Severely obese children + Signs of insulin resistance; eg:
 Acanthosis nigricans – Velvety dark skin on neck / armpits
 Skin tags
 PCOS in teenage girls

241
Q

What are the types of human insulin analogues?

A

Rapid acting - Faster onset (Insulin lispro- Humanlog, Insulin Glulisine - Apidra, Insulin aspart - Novorapid)

Very long acting - Insulin determir (Levemir) and Glargine (lantus)

242
Q

What are the types of short acting soluble human regular insulin?

A
  • Onset of action = 30-60 mins
  • Peak = 2-4 hrs

o Actrapid©
o Humulin S©

243
Q

What are the types of intermediate acting human regular insulin?

A
  • Onset = 1-2 hrs
  • Peak = 4-12 hrs

Isophane insulin = Insulin with protamine; eg:
o Insulatard©
o Humulin I©

244
Q

What is the overview of steps in DKA management?

A
  1. IV Fluids - If mild - no bolus, If severe - 0.9% saline (10ml/kg)

Maintenance fluids - 0.9% saline + 40 mmol/KCL -12hrs

  1. Insulin - IV (1 hr after IV fluids are started) -0.1 units/kg/h + 5% glucose if blood glucose drops <15
  2. Potassium - after you urinate
  3. Do not stop IV insulin until after 1 hr after the subcutaenous insulin is given
245
Q

What is the maintenance fluid in DKA?

A

First 12h- 0.9% saline + 40 mmol/KCL
(If blood glucose <14mmol/L = Add 5% glucose)

After 12h- If plasma Na+ lvl stable:
0.45% saline + 5% glucose + 40mmol/L KCL

246
Q

What are the things to monitor in DKA and how often?

A

o Blood glucose (hourly)
o Blood ketones (1-2 hourly)
o Electrolytes, creatinine, acid base status - 2-4 hrs

Until Potassium levels are stable:
o Continuous cardiac monitoring
o Plasma K+ measurement (2-4 hourly)

247
Q

What does FBC show in DKA?

A

Neutrophilia with no fever

248
Q

What is the definition of DKA?

A
o	Hyperglycaemia (Blood glucose >11.1 mmol/L)
o	+ Acidosis (pH<7.3 +// Bicarbonate <15 mmol/L)
o	+ Blood ketone > 3mmol/L
o	+ Clinically:
	Dehydrated 
	Vomiting 
	Drowsy
	Acidotic
249
Q

What is the treatment of hypoglycaemia?

A

Form of easily absorbed glucose - glucose tablets or Lucozade

Oral glucose gels (Eg: Glucogel)

Glucagon injection kit (1.0mg):

250
Q

What are the congenital causes of hypothyroidism?

A

Maldescent of the thyroid
Dyshormonogenesis
Iodine deficiency
Hypothyroidism - TSH deficiency - not picked up on guthrie test

251
Q

What is the cause of acquired hypothyroidism?

A

Autoimmune thyroiditis - increased risk in down syndrome and turner syndrome

increased risk of developing other auto-immune disorders - vitiligo, rheumatoid arthritis, DM

252
Q

What is the deficiency in CAH?

A

21-hydroxylase

253
Q

What is the hormonal problem in CAH?

A

The cholestrol is not converted into aldosterone and cortisol. Thus, it leads to a build of progesterone and 17-alpha progesterone which are converted into androgens

Low levels of cortisol → lack of negative feedback to the pituitary → increased ACTH → adrenal hyperplasia and increased synthesis of adrenal precursor steroids

254
Q

what are the biochemical findings of CAH?

A

Low plasma sodium
High plasma pottasium
Metabolic acidosis
Hypoglycaemia

255
Q

what should parents do when child is suspected to have recurrent febrile seizure?

A

Try teaching parents how to use rectal diazepam or buccal midazolam.

Parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes

256
Q

What are the risk factors of children with febrile seizure developing epilepsey?

A
  1. Family history of epilepsy
  2. Having complex febrile seizures
  3. Background of neurodevelopmental disorder
257
Q

An 18-month-old girl is brought to the general practitioner as her father noticed her limping on the left side for two days. Her father confirms there has been no recent trauma, but she has suffered with coryzal symptoms for the past 10 days. On examination, the patient has a temperature of 38.9ºC, is unable to weight bear on her left side and has focal erythema and tenderness over the left hip.

What is the most appropriate next step in this patients management?

A

Urgent assessment in paediatric assessment unit should be arranged for a child < 3 years presenting with an acute limp

258
Q

What is the treatment for non-bullous impetigo?

A

Hydrogen peroxide 1% cream (apply two or three times daily for 5 days) for people who are not systemically unwell or at a high risk of complications

Only if this is ‘unsuitable’, should you consider topical antibiotics (first line is fusidic acid 2%, with mupirocin 2% as second line if fusidic acid resistance is suspected or confirmed).

The child must not return to school for either 48 hours after commencing antibiotic treatment or until the lesions are crusted and healed.

259
Q

When are immunisations given for premature babies and how are developmental stages calculated for them?

A

Immunisations - Give normally, based on the child’s chronological age (Ie don’t correct for prematurity)

Developmental milstones - Expected Age + (40 - gestational age at birth)
[Example for social smile: Usually expected at 6 weeks for a normal child. But would be expected by 14 weeks for a child born at 32 weeks. 6 + (40-32) = 14]

260
Q

What is the commonest cause of hypothyroidism in the UK?

A

Autoimmune thyroiditis

261
Q

What are the CXR and ECG findings of TOF? And murmur?

A

CXR- Boot shaped heart due to the RV hypertrophy
ECG - RV hypertrophy

Ejection systolic murmur loudest at the left sternal edge - from the pulmonary stenosis (VSD too large for mumur)

262
Q

How are the hypercyanotic spells in TOF treated?

A

Typically self-limiting

If longer than 15min:

  1. sedation and pain relief (morphine)(
  2. IV propanolol - peripheral vasoconstrictor and relieves the subpulmonary muscular obstruction that
  3. IV volume administration
  4. Bicarbonate
263
Q

Where does eczema manifest in different age groups?

A

Infants - the face and trunk are often affected

Younger children - eczema often occurs on the extensor surfaces

Older children - a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck

264
Q

What is the management of eczema?

A
  1. Avoid irritants
  2. Simple emollients +/- topical steroids

If a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid. Creams soak into the skin faster than ointments. Emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers)

  1. Severe cases wet wraps and oral ciclosporin may be used
265
Q

What are the features of kawasaki’s disease?

A

Crash and Burn

Conjunctivitis - bilateral injection, non-exudative
Rash - nonvesicular, non-bullae
Adenopathy - cervical and unilateral
Strawberry tongue - redness of oral mucosa, or lips,
Hand - swelling and erythema of the hand

Burn - fever - atleast 5 days

266
Q

What is the most important complication of kawasaki’s diease?

A

Coronary artery aneruysm - perform echo if suspected

Also start on high dose aspirin - prophylaxis

267
Q

What is the management of Kawasaki’s disease?

A
  1. High-dose aspirin- Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally
    (Contraindicated in children)
  2. IV immunoglobulin
  3. Echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
268
Q

What is the mumur heard in an ASD?

A

midsystolic murmur and a widely split, fixed S2 heart sound best heard over the pulmonary valve

269
Q

3 hour old term baby
No antenatal concerns and the mother had not been on any medication antenatally, and is keen to breastfeed

midwife was concerned because the baby appeared lethargic and had not latched to the breast as yet

Glucose 2.3 mmol/L (4.0-5.9)

OE baby was easily rousable and appeared to be rooting. He had a good suck and handled well. Not jittery. What is the Mx?

A

Contact breast feeding support team to assist mum

Transient hypoglycaemia in the first hours after birth is common

If asymptomatic -
Encourage normal feeding (breast or bottle)
Monitor blood glucose

If symptomatic -
Admit to the neonatal unit
Intravenous infusion of 10% dextrose

270
Q

Commonest fractures associated with child abuse?

A
  • Radial
  • Humeral
  • Femoral
271
Q

What are the varying severities of Alpha-thalassaemia

?

A

If 1 or 2 alpha globulin alleles are affected then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal

If are 3 alpha globulin alleles are affected results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease

If all 4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart’s hydrops)

272
Q

What are the features of Diamond blackfann anaemia?

A

Type of pure red cell aplasia

Rapid onset of macrocytic (non-megaloblastic) anaemia in infancy (usually diagnosed within the first year of life)

Physical abnormalities:

  • Short stature, webbed neck
  • triphalangeal thumbs
  • Microcephaly, micrognathia
  • Hypertelorism, flat nasal bridge, cleft palate
273
Q

What are the features of fanconi anaemia?

A

Its a type of aplastic anaemia

Increased risk of acute myeloid leukaemia and myelodysplastic syndromes

Pancytopenia - mucocutaneous bleeding, recurrent infections, and anemia (normocytic or macrocytic)

Skeletal and organ abnormalities:

  • short stature
  • hypo- and hyperpigmentation
  • cafe-au-lait spots !!
  • microcephaly
  • developmental delay
  • thumb and forearm malformations
  • kidney
  • GI
  • heart
  • eye, and ear abnormalities
274
Q

What are the drugs that can cause aplastic anaemia?

A

carbamazepine, methimazole, NSAIDs, cytostatic drugs, propylthiouracil, and chloramphenicol

275
Q

What is the complication of SCD when pt presents with tender, swollen, red ankle and fever. What is its aetiology?

A

Osteomyelitis - caused by salmonella enterica

276
Q

Differentiating DIC from HUS?

A

DIC and HUS have similar features of fever, haemolytic anaemia and low platelets.

However, DIC causes consumption of the clotting factors while HUS doesn’t

277
Q

What are the drugs that can trigger G6PD?

A

Antimalarial - primaquine, quinine, chloroquine

Antibiotics - sulphonamide (co-triamoxazole), Quinolones (ciprofloxacin) , nitrofurantoin

278
Q

What are the risk factors for sudden infant death syndrome?

A
  • putting the baby to sleep prone
  • exposure to nicotine during preganancy and after birth
  • prematurity
  • hyperthermia
  • bed sharing

Other RFs:

  • male sex
  • multiple births
  • social classes IV and V
  • maternal drug use
  • incidence increases in winter
279
Q

What are the protective factors for sudden infant death syndrome?

A
  • breastfeeding
  • room sharing (but not bed sharing, which is a significant risk factor)
  • the use of dummies (pacifiers)
280
Q

What is the pathophysiology in PKU?

A
  • the decreased conversion of phenylalanine to tyrosine –> accumulation of phenylalanine
  • caused due to the lack of liver enzyme phenylalanine hydroxylase (PAH)
  • excess phenylalanine is converted into phenylalanine metabolites –> excreted in the urine
  • tyrosine deficiency –> decreased neurotransmitter, melanin
281
Q

what are the features of PKU?

A

symptoms in the first few months of life

Blue eyes, light, pale hair - due to lack of melanin

  • Learning difficulties - 6mths developmental delay
  • Seizures, typically infantile spasms
  • Microcephaly
  • ‘musty’ odour to urine and sweat - release of phenyketone
282
Q

How is PKU diagnosed?

A

Guthrie test: the ‘heel-prick’ test done at 5-9 days of life - also looks for other biochemical disorders such as

hypothyroidism
hyperphenylalaninaemia
phenylpyruvic acid in urine

283
Q

What is the pathophysiology in homocystinuria?

A

Methionine synthase (homocysteine methyltransferase) deficiency → impaired conversion of homocysteine into methionine (usually uses vitamin B6 as a cofactor)

Cystathionine synthase deficiency → impaired conversion of homocysteine into cystathionine

284
Q

what are the features of homocystinuria?

A

Nonspecific features in infancy: failure to thrive, developmental delay
• Marfanoid appearance - arachnodactyly
• Learning difficulties
• Lens dislocation - downwards dislocation of the lens
• Osteoporosis
• Thromboembolism
• Neurological patients may have learning difficulties, seizures

285
Q

What is the diagnostic test and management of homocystinuria?

A

Diagnostic test - cyanide-nitroprusside test, which is also positive in cystinuria.

Low protein diet
\+
Pyridoxine
\+
Folic acid
286
Q

What is the pathophysiology of maple syrup urine?

A

absent or deficient branched-chain alpha-ketoacid dehydrogenase → impaired degradation of BCAA (valine, leucine, isoleucine) → elevated α-ketoacid formation

287
Q

what are the features of maple syrup urine?

A
  • Vomiting, lethargy, poor feeding
  • Sweet-smelling urine (maple syrup or burnt sugar odor)
  • Intellectual disability
  • Dystonia
  • Damage to the CNS can be severe (elevated leucine level leads to brain injury)
288
Q

What is the treatment of maple syrup urine?

A

Low protein diet

289
Q

What is the pathophysiology of Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)?

A

A condition characterized by a defect in the breakdown of medium-chain fatty acids, which renders fatty acids an unusable alternative energy source in case of carbohydrate deficiency.

Defective breakdown of medium-chain fatty acids into acetyl-CoA → elevated concentrations of fatty acyl-CoA in the blood → hypoketotic hypoglycemia

290
Q

What are the features of MCAD deficiency?

A

Onset: within the first years of life

Symptoms are usually triggered by the following:

  • Prolonged fasting
  • States of increased metabolic demand (e.g., infection, exercise)
  • Dehydration, poor feeding
    -Vomiting
  • CNS:
    Lethargy
    Seizures
    Coma
    Hypotonia
291
Q

What are the causes of increased unconjugated bilirubin?

A

Gilbert’s syndrome

Crigler-Najjar syndrome

292
Q

What are the causes of increased conjugated bilirubin?

A

Dubin-Johnson syndrome

Rotor syndrome

293
Q

What are the features of Gilberts syndrome? inheritance and diagnostic test results?

A

Autosomal recessive inheritance - Mild deficiency of UDP-glucuronyl transferase

  • Asymptomatic or unspecific symptoms such as fatigue and loss of appetite
  • Jaundice triggered by stress, fasting periods and alcohol consumption

LFT - normal and minor increase in bilirubin
investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid

294
Q

What are the features of Criggler-najjar syndrome syndrome? inheritance and diagnostic test results?

A

Autosomal recessive inheritance - Complete deficiency of UDP-glucuronyl transferase

Excessive, persistent neonatal jaundice
Kernicterus: neurological symptoms (onset during infancy or later in childhood)

LFT - increased bilirubin , normal enzymes
Type 1 - do not survive to adulthood
Type 2 - may improve with phenobarbital (leads to induction of UDP-glucuronosyltransferase)

295
Q

What are the features of dubin-johnson syndrome?

A

Autosomal recessive - Impaired excretion of conjugated bilirubin from the hepatocytes into the bile canaliculi

Mutation in the canalicular multidrug resistance protein 2 (MRP2)

Direct hyperbilirubinemia
Liver biopsy: dark, granular pigmentation

296
Q

A 2 yr old reports with 1 week history of yellow discolouration of skin, loss of appetite and 3 episodes of vomiting. Scratching her abdo and arms excessively. Born at 38weeks gestation after pregnancy and delivery. Emigrated from Japan 8 years ago. Vital signs are normal. Examinations normal other than mass on RUQ . Biilirubin increased and GGt increased, AST,ALT normal. What is the management?

A

Choledochal cysts -more common in asians (japan and china)

usually present after their first year of life
Triad (rare)
o	Intermittent abdominal pain
o	Jaundice
o	RUQ abdominal mass

mx- excision of the cyst + formation of roux-en-Y

297
Q

How does rotavirus present differently from norovirus?

A
  • URTI signs (Common in rotavirus!)

* Vomiting (Predominates with Norovirus!)

298
Q

What type of inheritance is androgen insensitivity syndrome? What are the characteristic feattures? mX?

A

X-linked recessive mutation of the gene encoding the androgen receptor (Often male with receptor insensitivity to androgens)

Features:

  • Female external genitalia and physique
  • Amenorrhoea
  • Absent uterus
  • Presence of rudimentary testes

Diagnostic: buccal smear or chromosomal analysis to reveal 46XY genotype

Mx: remove the testes due to possible malignant change
oestrogen replacement therapy

299
Q

What are the complications of undescended testes?

A
  • Infertility
  • Torsion
  • Testicular cancer
  • Psychological
300
Q

By when is it expected for the testes to descend?

A

congenital undescended testis is one that has failed to reach the bottom of the scrotum by 3 months of age

301
Q

How is a unilateral undescended testes managed?

A

Referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age

Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age

302
Q

How is a bilateral undescended testes managed?

A

Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

303
Q

What are the characteristic features of Kleinfleters syndrome?

A

Karyotype 47, XXY

  • Often taller than average
  • Lack of secondary sexual characteristics
  • Small, firm testes
  • Infertile
  • Gynaecomastia - increased incidence of breast cancer
  • Elevated gonadotrophin levels
304
Q

What are the characteristic features of Kallman syndrome?

A

X- linked recessive - Hypogonadotrophic hypogondism associated with anosmia or hyposmia (failure of the GnRH-secreting neurons to migrate to the hypothalamus)

  • ‘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

305
Q

What are the types of precocious puberty?

A

Puberty before 8 in girls and 9 in boys

Gonadotrophin dependent (central)

  • Due to premature activation of the hypothalamic-pituitary-gonadal axis
  • FSH & LH raised (impt difference between central and peripheral)
  • testes enlarged

Gonadotrophin independent (peripheral)

  • due to excess sex hormones
  • FSH & LH low
  • testes might be small - adrenal tumour or hyperplasia
306
Q

What are the causes of bilateral testes enlargement? Unilateral enlargerment? small testes?

A

bilateral enlargement = gonadotrophin release from intracranial lesion

unilateral enlargement = gonadal tumour

Small testes =adrenal cause (tumour or adrenal hyperplasia)

307
Q

What are the features of Mcune Albright syndrome?

A

3 P’s:

  1. Polyostotic fibrous dysplasia - fibrous replacement of skeletal tissue
  2. Pigmentation (cafe au lait spots)
  3. Precocious puberty
308
Q

How are prader willi and angelman’s syndrome different in pathophysiology?

A

Both are imprinting related diseases

Prader willi - deletion of Paternal gene on chromosome 15 or maternal uniparental disomy

Angelman’s - deletion of maternal gene on chromosome 15 or paternal uniparental disomy

309
Q

What are the typical features of prader-willi syndrome?

A
  • muscular Hypotonia and poor feeding (poor suckling)-during infancy
  • Increased appetite and obesity in childhood
  • short stature (GH deficiency)
  • crypto-orchidism and infertility
  • facial dysmorphism - almond eyes and thin upper lip
  • Premature adrenarche with early development of pubic/axillary hair
310
Q

What are the typical features of Angelman syndrome?

A
  • Delayed mental development
  • 80% - epileptic seizures
  • Microcephaly
  • ataxia
  • Characteristic happy demeanor with frequent laughing (inappropriate laughter)
  • Hyperexcitability, short attention span
311
Q

What heart defect is common with fragile x syndrome?

A

Mitral valve prolapse

312
Q

What is the genetic defect in Williams syndrome? What re the characteristic featrues?

A

A microdeletion on chromosome 7

  • Elfin-like facies : midfacial hypoplasia, short palpebral fissure, wide forehead, flattened nasal bridge, anteverted nostrils, long philtrum, hypodontia
  • Hypersociability (e.g., comfort with strangers
  • supravalvular aortic stenosis
  • Transient neonatal Hypercalcemia (due to increased sensitivity to vitamin D)
  • Hyperacusis

William-syndrome, think: William takes ICEcream from strangers (Intellectual disabilities, Cardiovascular malformations, Elfin-like facial features, comfort with strangers).

313
Q

What is the pathophysiology of Noonan syndrome and its clinical features?

A

AKA male turner syndrome

Autosomal dominant -Mutation in PTPN11 gene on chromosome 12q

  • Proportionate short stature (often developing only after birth)
  • Turner syndorme like - webbed neck, widely-spaced nipples, short stature, pectus carinatum and excavatum
  • ptosis
  • triangular-shaped face
  • Cardiac - pulmonary valve stenosis
  • Coagulation problems - factor XI deficiency
314
Q

What is the hormonal test results for kleinfelters?

A

testerone is low
Thus FSH and LH are high (negative feedback is intact)

It is a hypergonadratrophic hypogonadism

315
Q

What are the features of di-george syndrome?

A
  • Short stature
  • Parathyroid aplasia / hypoplasia - Leading to hypocalcaemia
  • Thymus aplasia - Leading to T-cell deficiency
  • Cardiac defects: Usually involves aortic arch
  • Dysmorphism - Wide & prominent nasal bridge, small mouth and down slanting eyes
A = Aplasia (Parathyroid &amp; Thymus) 
B = Below average height (Short stature)
C = Cardiac defects 
D = Dysmorphism
316
Q

What are the cardiac abnormalities associated with marfan’s syndrome? what is the gene abnormality?

A

mitral valve prolapse, aortic aneurysm, and dissection

• Mutation of FBN1 gene on chromosome 15q

317
Q

How do you differentiate marfans syndrome from Homocystinuria based on clincial features?

A

Both have tall stature and Arachnodactyly, scoliosis and rib cage deformities

Marfans - autosomal dominant , no intellectual disability, CHD , upward and outward lens displacement

Homocystinuria - autosomal recessive, intellectual disability common, thrombosis , downward lens displacement

318
Q

What type of inheritance is duchenne muscular dystrophy?and the prominent clinical features?

A

X-linked recessive

  • progressive proximal muscle weakness from 5 years
  • calf pseudohypertrophy
  • Gower’s sign: child uses arms to stand up from a squatted position
  • associated with dilated cardiomyopathy
    30% of patients have intellectual impairment

Inability to walk by approx. 12 years of age

319
Q

What is the cardiac abnormality associated with duchenne muscular dystrophy?

A

Dilated cardiomyopathy - common cause of death

320
Q

What is the diagnostic test available for CF?

A

Heel prick test (Guthrie): ↑ Immumoreactive trypsinogen (IRT)

Sweat test = Usually after +ve for heel prick test: (Increased levels in CF patients)

321
Q

What are the causes of false positive sweat test?

A
	Malnutrition
	Adrenal insufficiency
	Glycogen storage diseases
	Nephrogenic DI 
	Hypothyrodism 
	Hypoparathyroidism 
	G6PD
	Ectodermal dysplasia

Most common reason for false -ve = Skin oedema
Usually due to hypoalbuminaemia / hypoproteinaemia 2o to insufficiency pancreatic exocrine

322
Q

What are the organisms that can cause recurrent infections in CF?

A

o Staphylococcus aureus
o Pseudomonas aeruginosa
o Burkholderia cepacian
o Aspergillus

323
Q

What diet is recommended for CF?

A

High calorie + high fat

324
Q

What are the conditions tested for in the heel prick test?

A
  1. congenital hypothyroidism
  2. cystic fibrosis
  3. sickle cell disease
  4. phenylketonuria
  5. medium chain acyl-CoA dehydrogenase deficiency (MCADD)
  6. maple syrup urine disease (MSUD)
  7. isovaleric acidaemia (IVA)
  8. glutaric aciduria type 1 (GA1)
  9. homocystinuria (pyridoxine unresponsive) (HCU)
325
Q

What is the genetic anomaly in edwards syndrome? which gender affected more?

A

Trisomy 18

Female

326
Q

What are the features of edwards syndrome?

A

Facial anomalies:

  • prominent occiput
  • microcephaly
  • broad nose
  • low set ears
  • micrognathia
  • cleft lip
  • clenched hands with overlapping fingers
  • Rocker bottom feet - convex deformity of the plantar
  • CHD - VSD, ASD and TOF
  • Diaphragmatic hernia
  • Malformations of internal organs: diaphragmatic hernia, ureter, and kidneys (horseshoe kidneys)
327
Q

what are the features of patau syndrome?

A
Microcephaly, holoprosencephaly
cleft lip and Palate 
Polydactyly
Pump disease (congenital heart disease)
Polycystic kidney disease
cutis aPlasia - congenital absence of the skin in the scalp
328
Q

How do you differentiate patau and edwards from downs in the triple/quadriple test?

A

↓↓ PAPP-A, ↑ nuchal translucency - in edwards and patau

↓ PAPP-A, ↑ nuchal translucency - in Downs

329
Q

What are the ocular features in down’s syndrome?

A
  • Upward slanting of the eyelids, epicanthal folds, hypertelorism
  • Brushfield spots (aggregation of connective tissue in periphery of iris, visible as white or grayish-brown spots)
  • Refractive errors (e.g., short-sightedness, astigmatism)
  • strabismus
  • Cataracts (congenital, infantile, or juvenile)
330
Q

What are the skeletal features in down’s syndrome?

A

Extremities-
o Single transverse palmar crease: crease across the palm, which runs along the metacarpophalangeal joints perpendicular to the fingers

o Sandal gap: large space between the first and second toe
o Clinodactyly, camptodactyly, brachydactyly

Soft tissue: connective tissue deficiency → ↑ increased risk of umbilical and inguinal hernias; marked hyperextension of joints may occur
Atlantoaxial instability

331
Q

What are the cardiac and GI features of down’s syndrome?

A

CHD - AVSD, VSD, ASD, TOF

GI - 
o  duodenal atresia/stenosis
o  annular pancreas,
o  Hirschsprung disease 
o imperforate anus
o enlargement of the colon
o rectal prolapse
332
Q

What are the ENT, endocrine, haematological and neurological features of down’s syndrome?

A

Endocrine - Hypothyroidism

ENT - Hearing loss due to recurrent otitis media

Haematological -
↑ risk of leukemia (acute lymphoblastic leukemia, acute myeloid leukemia),

Neurology:
↑ risk of early-onset of Alzheimer disease (75% of individuals affected by age of 40 years), ↑ risk of developing epilepsy

333
Q

What is the mutation affected in marfan’s syndrome?

A

Defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1
AD inheritance

334
Q

A 3-year-old boy is brought to the physician for a follow-up examination. He has suffered from seizures since the age of 8 months. His mother has noticed he often has unprovoked bouts of laughter and loves playing with water. She describes him as having a happy, excitable demeanor. He can stand without support but cannot walk. His responses are rarely verbal, and when they are, he uses single words only. His only medication is sodium valproate. He is at the 2nd percentile for head circumference, 30th percentile for height, and 60th percentile for weight. Examination shows a wide-based stance and mandibular prognathism. Tongue thrusting and difficulty standing is present. Muscle tone is increased in all extremities. Deep tendon reflexes are 4+ bilaterally. Which of the following is the diagnosis?

A

Angel man syndrome - Microdeletion of maternal 15q11-q13

335
Q

What is the causative organism for rubella? and what is the mode of infectivity?

A

Togavirus -Airborne droplets or transplacental

336
Q

What are the characteristic features of rubella infection?

A
  • Prodrome - 14-21 days of low grade fever
  • Maculopapular rash - initially on the face before spreading to the whole body, usually fades by the 3-5 day
  • lymphadenopathy: suboccipital and postauricular
337
Q

What are the complications of rubella infection?

A

arthritis
thrombocytopaenia
encephalitis
myocarditis

338
Q

What are the features of congenital rubella syndrome?

A

triad of sensorineural deafness, congenital cataracts and congenital heart disease (e.g. patent ductus arteriosus)

  • growth retardation
  • hepatosplenomegaly
  • purpuric skin lesions - blueberry muffin rash
  • ‘salt and pepper’ chorioretinitis
  • microphthalmia
  • cerebral palsy
339
Q

A 6-year-old boy is brought to the GP by his mother. He has been experiencing coryza accompanied by a fever of 37.8C for the last 3 days. This morning his mother noticed a red rash on both cheeks and pallor surrounding his mouth. Which one of the following is the most likely causative organism?

A

Parvovirus B19

340
Q

What are the feature of Erythema infectiosum ?

A

Prodrome - 7d after exposure:
o Low-grade fever
o Headache
o Coryza

Rash - Slapped cheek appearance- bright red amcule and perioral pallor –> spreads to limbs
Lace like rash on trunk and limbs

Can also cause aplastic crisis in those with hereditary spherocytosis or sickle cell disease

Can also cause foetal hydrops in maternal infection

341
Q

What is the triad seen in infectious mononucleosis? and additional features too

A

Exudative pharyngitis/ tonsillitis
Bilateral cervical lymphadenopathy (generalised and tender)
Spenomegaly – fever, fatigue malaise (splenic rupture)

  • Hepatomegaly - jaundice
  • A maculopapular, pruritic rash develops in around 99% of patients who take ampicillin/amoxicillin whilst they have infectious mononucleosis
342
Q

What is the diagnostic test for infectious mononucleosis? What are results expected in other blood tests?

A

Heterophil antibody test (Monospot test) - NICE guidelines suggest FBC and Monospot in the 2nd week of the illness to confirm a diagnosis of glandular fever

Bloods: Triad

  • Lymphocytosis (80-90% of WBC)
  • ≥ Atypical lymphocytes on peripheral blood film
  • +ve serology for EBV
343
Q

What is the management of infectious mononucleosis?

A
  • Rest during the early stages, drink plenty of fluid, avoid alcohol
  • Simple analgesia for any aches or pains
  • Consensus guidance in the UK is to avoid playing contact sports for 8 weeks after having glandular fever to reduce the risk of splenic rupture
344
Q

What is the cause of rosela infantum? and what are the characteristic features?

A

Human herpes virus 6

  • High spiking fever - upto 41 degrees for upto 4 days
  • Fever typically stops once rash appears
  • Maculopapular rash - rose coloured - beginning on trunk and spread peripherally
  • Nagayama spots (Papular enanthem on uvula & soft palate
345
Q

What is the most common complication of rosela infantum?

A

Febrile convulsions

346
Q

What are the causative organisms of impetigo? And what are the features of it?

A

Staph. aureus and pyogenes

‘golden’, crusted skin lesions typically found around the mouth

347
Q

What is the management of impetigo? school exlusion?

A

Localised disease -
1st line- hydrogen peroxide 1% cream - people who are not systemically unwell or at a high risk of complications

2nd line- topical antibiotics (fusidic acid cream)

Topical mupirocin should be used if fusidic acid resistance is suspected

MRSA - mupirocin

Extensive disease -
1st line - Flucloxacillin
2nd line - erythromycin - if penicillin allergic

children should be excluded from school until the lesions are crusted and healed or 48 hours after commencing antibiotic treatment

348
Q

What is the management of chickenpox?

A

Fever - antipyretics
Itching - topical calamine lotion and oral antihistamine

Acyclovir used in:

  • severe varicella
  • encephalitis
  • pneumonia
  • babies
  • immunosuppressed patients - steroids, chemotherapy

If pregnant mother is suspected to have come into contact with chicken pox patient

  • check for antibodies
  • if not give VZIG
349
Q

What are the complications of chicken pox?

A

Secondary bacterial infection - commonly caused by NSAIDS - 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

Other complications:

  • Pneumonia
  • Encephalitis
  • Disseminated haemorrhagic chickenpox
350
Q

What is the organism that causes whooping cough? What are the diagnostic features?

A

Gram-negative bacterium Bordetella pertussis

Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:

  • Paroxysmal cough.
  • Inspiratory whoop.
  • Post-tussive vomiting.
  • Undiagnosed apnoeic attacks in young infants.
351
Q

How is whooping cough diagnosed and managed?

A

Diagnosis

  • Nasal swab culture for Bordetella pertussis - may take several days or weeks to come back
  • PCR and serology - most sensitive

Management:

  • Infants under 6 months with suspect pertussis should be admitted
  • Macrolide - calrithromycin, azithromycin and erythromycin can be used if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread

1st line in 1mth old - azithromycin
2nd line in 1mth old - trimethoprim/sulfamethazole
Pregnant women - erythromycin

  • household contacts should be offered antibiotic prophylaxis
352
Q

What is the causative organism of diphtheria and how does it present?

A

gram positive - Corynebacterium diphtheriae

Presentation:

  • Travel history recent visitors to Eastern Europe/Russia/Asia
  • sore throat with a ‘diphtheric membrane’ - grayish white pseudomembrane
  • bulky cervical lymphadenopathy - bull neck
  • neuritis e.g. cranial nerves
  • heart block - myocarditis
353
Q

What are the ways to reduce the risk of vertical transmission of HIV in pregnancy?

A
  • Maternal antiretroviral therapy
  • Mode of delivery (caesarean section) + zidovudine infusion 4 hrs before c-section
  • Neonatal antiretroviral therapy - oral zidovudine if mother’s viral load is <50copies/ml. If not start triple ART
    Therapy should be continued for 4-6 weeks.
  • Infant feeding (bottle feeding)
354
Q

How do you differentiate stevens-johnson syndrome from scalded skin syndrome?

A

Both have diffuse erythema with ruptured blisters and positive Nikolsky sign . Stevens-johnson syndrome affects the mucosal membranes, whereas scalded skin syndorme doesn’t

While scalded skin syndrome is caused by staph.aureus, steven-johnson syndrome is mostly caused by drugs, CMV/herpes infection

On skin biopsy - The split is intradermal in the case of SSSS, while the split appears to be subepidermal in the case of TEN and SJS.

SSSS typically affects children less than 6 years of age due to impaired renal clearance of the exfoliative toxins and a lack of circulating antitoxins.

355
Q

What are the drugs that can induce steven johnson syndrome?

A
  • Antibiotics: sulfonamides (e.g., TMP/SMX), aminopenicillins, rifampicin
  • Corticosteroids
  • Antiretroviral drugs (e.g., nevirapine)
  • Antiepileptics: phenytoin, phenobarbital, lamotrigine, valproic acid, carbamazepine, ethosuximide
    Oxicam NSAIDs (e.g., piroxicam)
  • Allopurinol
  • Sulfasalazine
356
Q

A previously healthy 2-year-old girl is brought to the physician by her mother after she noticed multiple painless, nonpruritic papules on her abdomen. The child attends daycare three times per week, and this past week one child was reported to have similar lesions. Her immunizations are up-to-date. Her brother had chickenpox one month ago. She is at the 50th percentile for height and the 60th percentile for weight. Vital signs are within normal limits. Examination shows several skin-colored, nontender, pearly papules with central umbilication on the abdomen and extremities. The remainder of the examination shows no abnormalities. Which of the following is the most likely diagnosis?

A

Molluscum contagiosum

Caused by the Poxvirus and associated with children who have atopic eczema

Typical features:

  • characteristic pinkish or pearly white papules with a central umbilication
  • lesions are commonly seen on the trunk and in flexures, but anogenital lesions may also occur

Tx- it is self-limiting, can take upto 18mths

357
Q

A 4-year-old boy is brought to the physician by his mother because of a rash on his hands and feet for the past two weeks. It is intensely pruritic, especially at night. He has not had fever, headache, or diarrhea. His mother has a history of eczema. The child was due for an appointment later in the week to follow up on any potentially missing vaccinations. His temperature is 37.8°C (100.1°F). Examination shows a maculopapular rash with linear patterns affecting the interdigital spaces of the fingers and toes. The remainder of the examination shows no abnormalities. Which of the following is the most effective intervention for this patient’s skin lesion?

A

The patient has scabies

Tx include -
Topical permethrin 5% is first-line
Topical malathion 0.5% is second-line

Features of disease:
- widespread pruritus (worst at night and after a shower)
- linear burrows on the side of fingers, interdigital webs and flexor aspects of the wrist
- in infants, the face and scalp may also be affected
secondary features are seen due to scratching: excoriation, infection

Other recommendations:

  • Avoid close physical contact with others until treatment is complete
  • All household and close physical contacts should be treated at the same time, even if asymptomatic
  • Launder, iron or tumble dry clothing, bedding, towels, etc., on the first day of treatment to kill off mites.
358
Q

What is the typical presentation of eczema?

A

In infants the face and trunk are often affected

In younger children eczema often occurs on the extensor surfaces

In older children a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck

359
Q

What is the management of moderate eczema and severe eczema?

A

Moderate - simple emollients

Severe - wet wraps and oral ciclosporin may be used

360
Q

What are the features of lyme diease? also latent features?

A

Local - erythema migrans

systemic symptoms: malaise, fever, arthralgia

Later features:
CVS: heart block, myocarditis
Neurological: cranial nerve palsies, meningitis
Polyarthritis

361
Q

What causes lyme disease and how is it managed?

A

Borrelia burgdorferi - spirochete

Doxycycline if early disease. Amoxicillin is an alternative if doxycycline is contraindicated (e.g. pregnancy)
- People with erythema migrans should be commenced on antibiotic without the need for further tests

Ceftriaxone if disseminated disease

362
Q

A 9-month-old infant is brought to the physician because of a generalized nonpruritic rash for 2 days. The rash began on her trunk and spread to her extremities. Five days ago, she was taken to the emergency department for fever of 40.5°C (104.9°F) and a 1-minute generalized tonic-clonic seizure. She was born at term and has no history of serious illness. Her immunizations are up-to-date. Current medications include acetaminophen. Her temperature is 37.2°C (99.0°F) and pulse is 120/min. Examination shows a maculopapular rash that blanches on pressure. A photograph of the rash is shown. Posterior auricular lymphadenopathy is present. Which of the following is the most likely diagnosis?

A

Roseala infantum

Very high fever –> Fever resolves –> rash appears

363
Q

What is the aetiology of respiratory distress syndrome?

A
  • Premature birth
  • C-section - lower levels of fetal glucocorticoids than vaginal delivery
  • Maternal diabetes : leads to ↑ fetal insulin, which inhibits surfactant synthesis
  • Hydrops fetalis
  • Multifetal pregnancies
364
Q

What’s the difference between caput’s seccundum and cephalohematoma?

A

Caput succedaneum:

  • benign oedema of the scalp tissue that extends across the cranial suture lines
  • Present at birth on normal vaginal delivery
  • Mechanical pressure during delivery results in stasis of the blood and lymphatic vessels with subsequent swelling.)
  • Btwn skin & aponeurosis
  • Skin ecchymotic
  • resolves within a few days

Cephalohematoma:

  • subperiosteal hematoma that is limited to cranial suture lines
  • Injury to vessels between the skull and periosteum
  • May only present after a few days of normal vaginal delivery
  • Complications of a cephalohematoma include calcification of the hematoma, infection, and hyperbilirubinemia
365
Q

Five weeks after delivery, a 1350-g (3-lb 0-oz) male newborn has respiratory distress. He was born at 26 weeks’ gestation. He required intubation and mechanical ventilation for a month following delivery and has been on noninvasive pressure ventilation for 5 days. His temperature is 36.8°C (98.2°F), pulse is 148/min, respirations are 63/min, and blood pressure is 60/32 mm Hg. Pulse oximetry on 40% oxygen shows an oxygen saturation of 91%. Examination shows moderate intercostal and subcostal retractions. Scattered crackles are heard in the thorax. An x-ray of the chest shows diffuse granular densities and basal atelectasis. Which of the following is the most likely diagnosis?

A

Bronchopulmonary dysplasia

Things to note - X-ray findings - diffuse densities and basal atelectasis

366
Q

Who is at risk of TTN? What is the finding on CXR? What is the Mx?

A

RF: Term babies born using C-section (fluid not squeezed out)

Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure

mx: supplementary oxygen to maintain sats
- it is self-limiting and resolves by 1-2days

367
Q

What are the cutoffs for the APGAR SCORE

A

Appearance, Pulse, Grimace, activity, respirations

Reassuring: 7–10
Moderately abnormal: 4–6
Low: 0–3

368
Q

Twenty minutes after delivery by lower segment cesarean section at 38 weeks’ gestation, a 4630-g (10-lb 3-oz) male newborn has respiratory distress. Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Pregnancy was complicated by gestational diabetes mellitus. His temperature is 36.9°C (98.4°F), pulse is 155/min and respirations are 72/min. Pulse oximetry on room air shows an oxygen saturation of 88%. Grunting and moderate intercostal and subcostal retractions are present. Diffuse crackles are heard on auscultation of the chest. An x-ray of the chest shows increased lung volume and fluid within the interlobar fissures. Which of the following is the most appropriate next step in management?

A

Supportive care - diagnosis - TTN

369
Q

What are the X-ray features of RDS?

A

diffuse, fine, reticulogranular (ground-glass) densities with low lung volumes and air bronchograms

370
Q

Why are all neonates given vitamin K?

A

Newborns have low vitamin K values, partially due to a lack of gut colonization from vitamin K-producing bacteria, limited liver storage capacity, and poor placental passage of vitamin K, all of which increase their risk of bleeding.

Breast-fed babies are particularly at risk as breast milk

Haemorrhagic disease of the newborn (HDN). Bleeding may range from minor brushing to intracranial haemorrhages

371
Q

What are the steps of management for RDS?

A
  1. Clear the airway
  2. O2
  3. Continuous positive airway pressure (CPAP) / High-flow nasal cannula therapy
  4. Mechanical ventilation
372
Q

What are the Abx to start on if early onset (<48hrs) of neonatal sepsis?

A

Benzylpenicillin/ Amoxicillin + Gentamicin

373
Q

What are the Abx to start on if late onset (>48hrs) of neonatal sepsis?

A

Flucloxacillin + Gentamicin

374
Q

What does congenital parvovirus B19 infection present as? what is the management?

A

It affects foetal haemoatopoetic stem cells - causes severe anaemia and possibly foetal hydrops

Stillbirth and miscarriage

Dx- serologic assay for IgM and IgG against parvovirus B19

Mx- Intrauterine fetal blood transfusion in cases of severe fetal anemia

375
Q

What does congenital lisetriosis infection present as? what is the management?

A

Contaminated food: especially raw milk products

Presentation:

  • Increased risk of premature birth and spontaneous abortion
  • granulomatosis infantiseptica - systemic disseminated abscess in any organ system
  • respiratory distress and skin lesions
  • Signs of meningitis

Dx= Culture from blood or CSF samples

Mx - Ampicillin + gentamicin (for both mother and baby)

376
Q

What does congenital HSV infection present as? what is the management?

A
  • Fetal demise, preterm birth, very low birth weight
  • Vesicular skin lesions
  • Microcephaly, hydrocephalus, and other CNS defects
  • Keratoconjunctivitis leading to cataracts, chorioretinitis
  • Vesicular lesions of oropharynx
  • neonatal meningitis - seizures, bulging fontanelle

Mx -

  • IV acicylovir
  • Elective caesarean section at term is advised if a primary attack of herpes occurs during pregnancy at greater than 28 weeks gestation
377
Q

Differentiate ABO incompatibility from rhesus incompatibility

A

ABO incompatibility: Presence of non-self antigen

  • Usually blood group O; newborn with blood group A or B
  • Can cause mild anaemia and jaundice
  • Coombs test - weakly positive or negative
  • Usually occurs in the first pregnancy

Rh incompatibility: when mum is rh-ve and baby is rh+ve

  • Can cause foetal hydrops , jaundice anaemia , kernicterus
  • Usually occurs in the second pregnancy
  • coombs test - positive
378
Q

What are the signs of neonatal meningitis and how do you manage it?

A

Generic sepsis symptoms - Fever, respiratory distress, lethargy, drowsiness, vomiting, poor feeding

o Tense / Bulging fontanelle
o Head retraction + Hyperextension of neck & back (Opisthotonos)
o Seizures

Mx-
o 3rd generation cephalosporin - cefotaxime
+ ampicillin/ penicillin - for listeria

379
Q

What are the diagnostic tests required for neonatal jaundice?

A

• Serum bilirubin level (SBR – total & conjugated):
o Within 2h (if within first 24h of birth)
o Within 6h (if >24h old)

• FBC (Hb):
o Haemolysis shows anemia with increased MCHC (Due to increased corpuscular volume of reticulocytes)

• DAT

Trancutaenous bilirubin can be used before SBR if:
- Born >35 wks gestation
+ >24h old

380
Q

What is the guidelines for phototherapy in neonatal jaundice?

A
  • Within 50μmol/L/hr below exchg transfusion line = Continuous multiple phototherapy
  • NOT within 50μmol/L/hr below exchg transfusion line = Single phototherapy
  • Only stop phototherapy if 50μmol/l/hr below phototherapy line
381
Q

What does congenital taxoplasmosis infection present as? mode of transmission? complications? what is the management?

A

Transmission - cat faeces, undercooked meat , unpasteurised goat milk

Presentation:

  • increased risk of premature birth and spontaneous abortion
  • Triad 4Cs - Chorioretinitis (posterior uveitis) , diffuse Cerebral calcifications, hydroCephalus (also macroCephaly)
  • Blueberry muffin rash, fever, jaundice, seizures

Complications:

  • Epilepsy
  • Intellectual disability
  • Visual disabilities
  • Sensorineural hearing loss

Mother: immediate administration of spiramycin to prevent fetal toxoplasmosis
Fetus: When confirmed or highly suspected, switch to pyrimethamine, sulfadiazine, and folinic acid.
Newborn: pyrimethamine, sulfadiazine, and folinic acid

382
Q

What does congenital CMV infection present as? what is the management?

A

Transmission to mother - through CMV infected blood, saliva or urine
Transmission to baby - transplacental, breastfeeding or vaginal birth

Presentation:

  • increased risk of premature birth and spontaneous abortion
  • CNS - hydrocephalus, microcephaly - periventricular calcifications
  • Blueberry muffin rash, fever, jaundice, seizures

Complications:

  • Hearing loss, vision impairment
  • Dental abnormalities
  • Psychomotor retardation, intellectual disability

Mx:
anaemia - intrauterine blood transfusions
newborn supportive treatment

383
Q

What does congenital syphilis infection present as? what is the management?

A

Transmission - transplacental or vaginal birth

Early onset (<2y age) - usually present mths after birth

  • Hepatomegaly and jaundice
  • Rhinorrhoea with white or bloody nasal discharge
  • Maculopapular rash on palms and soles
  • Nontender lymphadenopathy
Late onset (>2y)
- Typical facial features: saddle nose, frontal bossing, short maxilla
- Hutchinson's teeth (notched, widely spaced teeth)
mulberry molars (poorly developed first molars)
- Saber shins - anterior bowing of the tibia
Hutchinson triad: interstitial keratitis, sensorineural hearing loss, Hutchinson teeth

Testing - VDLR

Mx-
10 days of IV penicillin G for both pregnant women and newborns

384
Q

What does congenital varicella infection present as? what is the management?

A
  • Hypertrophic scars (cicatricial skin lesions)
  • Limb defects - hypoplasia
  • Ocular defects - chorioretinitis, cataracts
  • CNS - seizure and hydrocephalus

Mx:

  • pregnant women or newborns with (severe) infection: acyclovir
  • postexposure prophylaxis in newborns if mother displays symptoms of varicella < 5 days before delivery: IgG antibodies (varicella-zoster immune globulin, VZIG)
  • continue breast feeding
385
Q

How do you differentiate Congenital CMV infection from Congenital taxoplasmosis?

A

Premature delivery, low birth weight, seizures, jaundice, hearing loss, chorioretinitis, and purpuric rash may all be seen in both

Intracranial calcifications are limited to the periventricular region
Diffuse calcifications present in congenital taxoplasmosis

386
Q

How are gastroschisis and examphalos managed differently?

A

Gastroschisis:

  • vaginal delivery may be attempted
  • newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours (Abdomen covered with clear occlusive wrap:)

Examphalos:

  • elective caesarean section (37 weeks) is indicated to reduce the risk of sac rupture
  • a staged repair may be undertaken as primary closure –>difficult due to lack of space/high intra-abdominal pressure
387
Q

What are the features of a child with foetal alcohol syndrome?

A

Microcephaly, flat philtrum, short palpebral fissures, hypertelorism, depressed nasal bridge, and micrognathia.

Hyperactivity and inattention and intellectual disability

388
Q

What are the risk factors for cleft lip deformities?

A

Events in pregnancy:

  • Maternal antiepileptic use ↑ risk
  • Smoking
  • BDZ use
  • Rubella infection
389
Q

What are the problems associated with cleft lip deformities?

A
  • Feeding (Orthodontic devices may be useful)
  • Speech (75% of children develop normal speech with speech therapy)

↑ Risk of acute secretory otitis media for cleft palate babies

390
Q

When are cleft lip deformities to be fixed?

A
  • Cleft lip is repaired earlier than clef palate - Btwn 1st week of life to 3 months
  • Cleft palates usually repaired btwn 6-12 mths of age
391
Q

What is the presentation of neonatal hyperthyroidism? How is it tx?

A

Irritability, restlessness, tachycardia, diaphoresis, hyperphagia, poor weight gain, diffuse goiter (can cause tracheal compression), microcephaly (due to craniosynostosis)

May arise directly after birth or delayed up to 10 days later as a result of transplacental maternal antithyroid medication (including propylthiouracil or carbimazole)

Tx: Graves disease - resolves in 1–3 months
Infants with symptomatic hyperthyroidism - methimazole and propanolol

392
Q

What is ambylopia? What causes it?

A

Potential permanent reduction of visual acuity in an eye that has not received a clear image in the sensitive period of visual development

Caused by a squint, refractive error and cataract

393
Q

How is ambylopia managed?

A

• Regular orthoptic monitoring

+ Ongoing correction of refractive error in the ‘lazy’/weaker eye:

o Glasses (Correct refractive error)
o Eye patching the ‘good eyes’ for specific periods of the day
o Eye surgery

Early treatment needed!! (If >7 yo unlikely to have improvement)

394
Q

What are the indications to refer a squint to an ophthalmologist?

A
  • Divergent
  • Paralytic (Non-concomitant)
  • Persisting > 3 mths old
395
Q

What is the Mx of status epilepticus?

A
  1. Check airway secure, check glucose, high-flow O2
  2. If vascular access available - Lorazepam IV/IO in 5 mins
  3. Not controlled after 15mins - Lorazepam IV/IO
  4. if still uncontrolled - senior help + Phenytoin IV/Io or Phenobarbitone
  5. Rapid sequence induction of anaesthesia
396
Q

What are the features of benign rolandic epilepsy? What is seen on EEG?

A

M>F

  • Usually occurs during sleep
  • Facial twitching or numbness, hypersalivation, and speech arrest (during and frequently even after the event)
  • Paraesthesia (e.g. unilateral face), usually on waking up - can involve the arms or even entire side of body

EEG: centrotemporal spikes or sharp waves in

  • Often occurs in bursts
  • Often bilateral, in which case activity in one hemisphere may be independent of the other

Usually resolves by puberty

397
Q

How do children with absence seizures present and what is the treatment?

A

Absence seizures - 5–10 seconds up to 100x/day

  • Brief unresponsiveness without convulsions
  • Amnestic during seizures; children appear to be staring or daydreaming
  • Lip smacking, eye fluttering or head nodding are common
  • No Post-ictal phase

EEG: 3Hz generalized, symmetrical

1st line - ethosuxamide
2nd line - sodium valproate
3rd line - lamotrigine

398
Q

How do children with juvenile myoclonic seizures (Janz syndrome) present and what is the treatment?

A

onset: teens; F:M = 2:1

Typical onset in the teens, more common in girls

  • Bilateral symmetrical myoclonic jerks, primarily after awakening, without impaired consciousness
  • Generalised tonic-clonic seizures
  • Absence seizures with impaired consciousness

Triggers: sleep deprivation, alcohol consumption, flickering lights

Treatment- sodium valproate

399
Q

What are the features of infantile spasms/ west syndrome? what are the causes? What is the treatment?

A

Between 3-7 mths.

Caused by -

  • Perinatal infections
  • Hypoxic-ischemic injury
  • PKU
  • Tuberous sclerosis complex

Features:

  • Sudden symmetric, synchronous spasms, usually in clusters of 5–10
  • Flexion of head, trunk, limbs → extension of arms (Salaam attack); last 1-2 secs
  • Progressive mental handicap
  • Hysarrhythmia on interictal EEG - high-voltage delta waves with irregular multifocal spikes and slow waves

Poor prognosis - Neurodevelopmental delay, regression of psychomotor abilities in > 85% of cases

vigabatrin/steroids (Vigabatrin is administered particularly in patients with tuberous sclerosis.)

400
Q

What are the features of Lennox-Gastaut syndrome? what are the causes? What is the treatment?

A

1–5 years

  • May be extension of infantile spasms (50% have hx)
  • Structural brain damage - tuberous sclerosis, meningitis, hypoxic-ischemic injuries, head injuries

Features:
- Multiple types of seizures: myoclonic, tonic, atonic, absences
- Developmental delays
90% moderate-severe mental handicap
- Frequently periods of status epilepticus

EEG: slow spike pattern, Multifocal sharp and slow waves

Tx:

  • ketogenic diet
  • Attempt anti-convulsive therapy
401
Q

What are the features of neonatal seizures? how is it treated? what causes it?

A

Secondary to hypoglycaemia, meningitis, head trauma

pyridoxine dependency (AR, IV B6)
benign familial neonatal seizures (AD)
benign neonatal convulsions (5th day)

treatment- give Vitamin B6

402
Q

What are the 2 most important risk factors of cerebral palsy? Some less common ones too

A

2 most common : preterm birth and low birth weight

Other RFs:
Antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)

Intrapartum (10%): birth asphyxia/trauma

Postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma

403
Q

What is the management of cerebral palsy?

A

Spasticity- oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy

Anticonvulsants, analgesia as required

404
Q

What are the causes of otitis externa? what are the features?

A

Bacterial infections - pseudomonas aurigenosa (swimmers ear), staph auerus
Fungal infections - aspergillusus

Severe pain
Chronic discharge from affected ear
hearing loss

Tx:

  • Suction clearance
  • Combined topical antibiotic + Hydrocortisone 1% + gentamicin 0.3%
405
Q

What are the tympanometery findings of otitis media?

A

bulging and red

406
Q

When are antibiotics prescribed in otitis media?

A
  • Symptoms lasting more than 4 days or not improving
  • Systemically unwell but not requiring admission
  • Immunocompromise or high risk of complications secondary to significant heart, lung, kidney, liver, or neuromuscular disease
  • Younger than 2 years with bilateral otitis media
    Otitis media with perforation and/or discharge in the canal

5-day course of amoxicillin is first-line!!
Alternative - erythromycin or clarithromycin

407
Q

What is the cause of tonsilitis? how is it treated?

A

Streptococcus pyogenes

Tx- penicillin V- phenoxymethylpenicillin 10days / if allergic erythromycin or clarithromycin 5days

Use Centor criteria:

  • Presence of tonsillar exudate
  • Tender anterior cervical lymphadenopathy or lymphadenitis
  • History of fever
  • Absence of cough

Score 0,1- no need for antibiotics
scores 2,3 - rapid strep test or culture
Score 3,4 - treat with antibiotics

408
Q

What are the complications of acute tonsillitis?

A
  • otitis media
  • quinsy - peritonsillar abscess
  • Rheumatic fever and glomerulonephritis very rarely
409
Q

What are the indications for tonsillectomy?

A

Meet all of the following criteria:

  • Sore throats are due to tonsillitis (i.e. not recurrent upper respiratory tract infections)
  • The person has five or more episodes of sore throat per year
  • Symptoms have been occurring for at least a year
  • Episodes of sore throat are disabling and prevent normal functioning

Other indications include
- Recurrent febrile convulsions
- Obstructive sleep apnoea (adenoids will be removed as well)
1 sided tonsillar pathology

410
Q

What is the otoscopy finding of glue ear?

A

dull and retracted ear drum with visible fluid level

411
Q

What is the given to close the PDA?

A

Indomethicin or Ibuprofen - NSAIDs

412
Q

How are headlice diagnosed? How is treated?

A

Diagnosis: Fine-toothed combing of wet or dry hair

Treatment:
Tx only indicated if living lice are found
- Malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone

no school exclusion

413
Q

What are the CI for lumbar puncture?

A

Any signs of rasied ICP:

  • Focal neurological signs
  • Papilloedema
  • Significant bulging of the fontanelle
  • Disseminated intravascular coagulation
  • Signs of cerebral herniation

Meningococcal septicaemia - LP is CI - blood culture and PCR for meningococcus should be obtained.

414
Q

What is the treatment for meningitis?

A

Neonates:
<3years old: Cefotaxime + amoxicillin/ampicillin
>3 years old: Cefotaxime

Steroids:
- Do not give steroids under the age of 3 mths

Fluids - treat shock with colloid

Cerebral monitoring - mechanical ventilation if respiratory impairment

Ciprofloxacin for contacts

415
Q

What are the hearing tests done routinely?

A

Otoacoustic emission test - done before discharge
Auditory brainstem response test - if otoacoustic test is abnormal

Distraction test - performed at 6-9mths

416
Q

What are the 5 most common causes of nappy rash?

A

Irritant dermatitis - irritant effect of urinary ammonia and faeces; erythematous with sparing of the flexures

Candida dermatitis - erythematous rash which involve the flexures and has characteristic satellite lesions

Seborrhoeic dermatitis - Erythematous rash with flakes. May be coexistent scalp rash

Psoriasis - characterised by an erythematous scaly rash also present elsewhere on the skin (less common)

Atopic eczema - other areas of the skin are affected

417
Q

What is the general management of nappy rash?

A
  • Disposable nappies are preferable to towel nappies
  • Expose napkin area to air when possible
  • Apply barrier cream (e.g. Zinc and castor oil)
  • Mild steroid cream (e.g. 1% hydrocortisone) in severe cases
  • Management of suspected candidal nappy rash is with a topical imidazole. Cease the use of a barrier cream until the candida has settled
418
Q

What is the management of phimosis?

A

Do not intervene if <2y old and no other problems - review in 6mths

If problem persists >2y and has balanoposthitis or urinary tract infection - surgery can be considered

419
Q

How do you differentiate testicular torsion and torsion of morgani?

A

Torsion of morgani has similar symptoms as testicular torsion but the symptoms are less severe

There is a blue dot

420
Q

What are the triggers of idiopathic thrombocytopenic purpura (ITP)? What are the antibodies?

A

After an infection or vaccine

Antibodies against glycoprotein IIb/IIIa or Ib-V-IX complex.

421
Q

A 2-year-old boy is presented with multiple petechiae and excessive bruising on his shins. He was previously fit and well apart from a an illness two weeks ago which was diagnosed by the general practitioner as a viral upper respiratory tract infection and for which he was only given paracetamol. His symptoms today were only noticed by his mother half an hour ago. He is apyrexial. Investigations including blood smears reveal thrombocytopaenia with all other parameters reported as normal.

Which of the following is the most likely diagnosis?

A

ITP

422
Q

What is the order in which puberty develops in male and females?

A

female - boobs, pubes, grow, flow

Male - Grapes (testicles), drapes (hair), grow, flow (ejaculation)

423
Q

What is the diagnostic test and management of SUFE?

A

AP and lateral (typically frog-leg) views are diagnostic

Treatment - internal fixation

424
Q

What is the management of gastro-oesophageal reflux in infants?

A

Conservative:

  • Advise regarding position during feeds - 30 degree head-up
  • Ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds
  • A trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum)

G - Gaviscon - do not use the same time as thick formula
O - Omeprazole
R - Ranitidine
D - Dunno so refer them to get Metoclopromide

Ranitidine or Omeprazole should be trialled if not responsive to gaviscon and:
1. feeding difficulties, 2. distressed behaviour or 3. faltering growth

425
Q

What are the features of achondroplasia?

A

Autosomal dominant disease - impaired bone ossification and longitudinal bone growth

  • 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
426
Q

What is the main risk of achondroplasia?

A

Paternal age at the time of conception

427
Q

What is the triad in autism?

A

Impairment in social interaction - asocial
Impairment in communication
Restricted, stereotyped interests and behaviours - behaviour restricted

428
Q

What are the features of osteogenesis imprerfecta?

A

Autosomal dominant - impaired bone matrix formation

Type 1- more common and mild

  • Skeletal deformities, brittle bones
  • Bowing of bones and saber shins
  • Blue sclerae - choroidal vein
  • deafness secondary to otosclerosis

Type 2 - severe

  • lethal perinatally or within the first year
  • Multiple intrauterine and/or perinatal fractures
  • underdeveloped lungs

In osteogenesis imperfecta, patients cannot BITE: Bones (recurrent fractures), I for “eye” (blue sclerae), Teeth (dental abnormalities), Ears (hearing loss).

429
Q

When do you intervene for obesity in children?

A

Consider tailored clinical intervention if BMI at 91st centile or above.

Consider assessing for comorbidities if BMI at 98th centile or above

430
Q

List some causes of obesity in children?

A
  • Growth hormone deficiency
  • Hypothyroidism
  • Down’s syndrome
  • Cushing’s syndrome
  • Prader-Willi syndrome
431
Q

List come consequences of obesity in children?

A
  • Orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
  • Psychological consequences: poor self-esteem, bullying
  • sleep apnoea
  • Benign intracranial hypertension
  • Long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
432
Q

What is the typical age of onset of autism?

A

Usually before the age of 3

after the age of 3 - usually atypical autism

433
Q

What is the diagnostic criteria for autism?

A

A. Presence of abnormal or impaired development before the age of three.
B. Qualitative abnormalities in social interaction.
C. Qualitative abnormalities in communication.
D. Restrictive, repetitive and stereotyped patterns of behaviour, interests and activities.
E. The clinical picture is not attributable to other varieties of pervasive developmental disorder.

434
Q

Whats the difference between Asperger syndrome and autism?

A

Differs from other ASDs by relatively normal:
o Language
o Intelligence

social interaction and restricted, stereotyped, repetitive interests and behaviours as seen in autism

NO delay in language 
•	BUT may have weakness in nonliteral language; eg:
o	Humour
o	Irony
o	Teasing 
o	Sarcasm
435
Q

What are the features of Rett’s syndrome?

A

X-linked disorder with progressive loss of intelligence and cognitive abilities such as language, locomotion, and fine motor skills

Affects mostly female - males die

The progression is normal until 7-24mths and then it regresses-

  • Loss of targeted hand movements with characteristic hand wringing
  • Truncal ataxia, apraxia, choreatic movements
  • Intellectual and verbal disability
  • seizures and growth difficulties
436
Q

What’s the triad seen in ADHD?

A
  • Inattention
  • Hyperactivity
  • Impulsivity
437
Q

What is the diagnostic criteria for ADHD?

A

A. Demonstrable abnormality of attention, activity and impulsivity at home, for the age and developmental level of the child.
B. Demonstrable abnormality of attention and activity at school or nursery (if applicable), for the age and developmental level of the child.
C. Directly observed abnormality of attention or activity. This must be excessive for the child’s age and developmental level.
D. Does not meet criteria for a pervasive developmental disorder, mania, depressive or anxiety disorder.
E. Onset before the age of 7 years.
F. Duration of at least 6 months.
G. IQ above 50.

438
Q

What does the treatment of ADHD involve?

A

1) After presentation: 10-week ‘Watch and wait period’
2) If symptoms persist = Referral to secondary care; paediatrician with special interest or CAMHS

Parents attending education and training programmes - useful for mild/moderate symptoms

Pharmacotherapy - if not responding to non-pharmacological Rx/ severe symptoms (Only available for those >5 y)

Children:
1st line - Methylphenidate
2nd line - lisdexamfetamine
3rd line - dexamfetamine - for those who can benefit from lisdexamfetamine but can’t tolerate SEs

Adults:
1st line- Methyphenidate/ lisdexamfetamine

439
Q

What do you monitor after prescribing methylphenidate?

A

Monitor weight & height every 6 mths

Can also be cardiotoxic:

  • Baseline ECG before starting treatment
  • Refer to cardiologist if significant PMH/FH
440
Q

Which cephalosporin is CI in meningitis <3mths old?

A

Ceftriaxone is contraindicated in babies <3 months because it displaces bilirubin from albumin binding sites, resulting in higher levels of bilirubin that accumulate in the tissues.

441
Q

What is the prophylaxis for meningitis

A

ciprofloxacin

442
Q

What is the difference between the presentation of gastroschisis and omaphocele?

A

Gastroschisis and omphalocele present similarly, but gastroschisis refers to a defect lateral to the umbilicus whereas omphalocele refers to a defect in the umbilicus itself.

443
Q

What are the common haemorrhages in children?

A

Premature infants - Interventricualr haemorrhage

Shaken baby syndrome - subdural haemorrhage (triad of retinal haemorrhages, subdural haematoma, and encephalopathy)

444
Q

What are the poor prognostic factors in ALL?

A
  • Age < 2 years or > 10 years
  • WBC > 20 * 109/l at diagnosis
  • T or B cell surface markers
  • Non-Caucasian
  • Male sex
445
Q

What are the features of atypical UTI?

A
  • Seriously ill
  • Poor urine flow
  • Abdominal or bladder mass
  • Raised creatinine
  • Septicaemia
  • Failure to respond to treatment with suitable antibiotics within 48 hours
  • Infection with non-E. coli organisms
446
Q

What is the definition of recurrent UTI?

A
  • 2 or more upper UTI or pyelonephritis
  • 1 upper UTI and 1 lower UTI
  • 3 or more lower UTI
447
Q

How do you follow up with imaging in UTI in <6mth old?

A
  • Simple UTI (responding to abx within 48hrs) ->outpatient USS within 6weeks->if abnormal->MCUG
  • Atypical or recurrent UTI -> USS inpatient during acute infection + DMSA (within 4-6mths) + MCUG

If child has non-E.coli infection and responding to Abx - USS within 6wks

448
Q

How do you follow up with imaging in UTI in 6mth-3y old?

A
  • Simple UTI (responding to abx within 48hrs) - no follow up
  • Atypical -> USS inpatient during acute infection + DMSA (within 4-6mths) +/- MCUG (only perform if:
  • Dilatation on USS
  • Poor urine flow
  • Non E.coli infection
  • FH of reflux)

• Recurrent -> USS inpatient within 6 weeks + DMSA (within 4-6mths)+/- MCUG

If child has non-E.coli infection and responding to Abx - USS within 6wks

449
Q

How do you follow up with imaging in UTI in >3y old?

A
  • Simple UTI (responding to abx within 48hrs) - no follow up
  • Atypical UTI -> USS inpatient during infection (Ultrasound in toilet-trained children should be performed with a full bladder with an estimate of bladder volume before and after micturition.)
  • Recurrent UTI ->USS within 6 weeks + DMSA (within 4-6mths)
450
Q

What causes peri-orbital and orbital cellulitis?

A

Commonly preceded by bacterial sinus infection

451
Q

How are peri-orbital and orbital cellulitis different clinically?

A

Both conditions can present with oedema and erythema around the eyelids.

Both conditions are most commonly unilateral; bilateral swelling around the eyes should raise suspicion for nephrotic syndrome.

Key to distinguishing between preseptal and orbital cellulitis clinically is through examination of eye movements. Preseptal cellulitis does not limit eye movement, but as orbital cellulitis involves deeper structures, eye movements are limited and there might be double vision, reduced visual acuity and proptosis.

452
Q

What is the diagnostic investigation and management if orbital cellulitis is suspected?

A

CT orbit scan should be performed

Aggressive management with admission for IV antibiotics and a low threshold for surgical decompression. This is to avoid serious complications such as meningitis (from infection back tracking into the CNS), abscess formation, or cavernous sinus thrombosis

453
Q

What is the management of periorbittal cellulitis?

A

Managed with oral antibiotics, with a low threshold for IV therapy to prevent the progression to orbital cellulitis

454
Q

Which CHD is the most associated in infants with diabetic mothers

A

TGA

455
Q

What is the kocher criteria?

A
  • T >38.5
  • ESR>40
  • White blood cells >12000 on aspirate
  • Inability of weight bear

Used to differentiate septic arthritis from transient synovitis in teh child with a painful hip.

Over 3 - highly likely to be septic arthritis

456
Q

What is the main criteria for all JIA?

A

A prerequisite for the diagnosis of all forms of JIA is that arthritic symptoms begin before the age of 16 and last ≥ 6 weeks.

457
Q

What are the markers found in different JIAs?

A

Oligoarticular - ESR +ve, RhF-ve, ANA +ve
Polyarticular - ESR +ve, RhF+ve/-ve (seronegative, seropositive)
Still’s disease - ESR+ve, Rhf-ve, ANA+ve

458
Q

What are the features of retinoblastoma? And how is it managed?

A
  • Absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
  • Strabismus
  • Visual problems

Treatment

  • Enucleation is not the only option
  • Depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
459
Q

what are conditions which are inherited through a mitochondrial mode?

A
  1. leber’s optic atrophy
  2. MELAS syndrome - mitochondrial encephalomyopathy lactic acidosis and stroke like episodes
  3. MERRF - myoclonus epilepsy with raggedd-red fibres
  4. kearn’s-sayre syndrome - onset in patients < 20yrs, extenal ophthalmoplegia, retinitis pigmentosa
  5. sensorineural hearing loss
460
Q

what drugs increase of necrotising fasciitis in patients with chicken pox?

A

NSAIDS - ibuprofen

461
Q

what are the findings of lumbar puncture that dexamethasone considered in? ((in meningitis)

A
  1. frankly purulent CSF
  2. CSF white blood cell > 1000 microlitre
  3. raised CSF white blood cell count with protein concentration greater than 1g/litre
  4. bacteria on gram stain
462
Q

when do you check for urine sample in children?

A
  • if there are any symptoms or signs suggestive or a UTI
  • with unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
  • with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)
463
Q

what are the organisms that affect the mortality and morbidity of cystic fibrosis patients?

A

Burkholderia cepacia

Pseudomonas aeruginosa

464
Q

what is the treatment for pyloric stenosis?

A

ramstedt pyloromyotomy