Paediatrics

Question 1

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

Answer 1

50% of female - carriers

50% of male- affected

Question 2

What is Turner syndrome?

Answer 2

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.

Question 3

Features of Turner syndrome?

Answer 3

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.

Question 4

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

Answer 4

Generally frequent of opening bowel ↓ as age increases

Question 5

Common causes of constipation in kids

Answer 5

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

Question 6

Red flags of constipation

Answer 6

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

Question 7

Examination findings of constipated child

Answer 7

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

Question 8

Treatment for constipation

Answer 8

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

Question 9

Asthma treatment in children 5-16y old

Answer 9

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

Question 10

Asthma treatment in children <5y olds

Answer 10

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!!!!!!!

Question 11

What is the commonest cause of stridor in children?

Answer 11

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

Question 12

How to differentiate croup from other infection such as laryngotracheitis?

Answer 12

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

Fever
Sore throat
↑WBC

Question 13

Types of croup and causes

Answer 13

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)

Question 14

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

Answer 14

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

Question 15

Precautions when examining patients with croup?

Answer 15

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

 For BOTH croup & acute epiglottitis

Question 16

How is croup diagnosed?

Answer 16

Diagnosed based on History + Examination

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

Question 17

Symptoms of mild croup

Answer 17

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

Question 18

General symptoms of croup

Answer 18

S&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

Question 19

Symptoms of moderate croup

Answer 19

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

Question 20

Symptoms of severe croup

Answer 20

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

Question 21

Symptoms of croup - Impending Respiratory Failure

Answer 21

↑-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

Question 22

Hospital admission strategy for croup patients

Answer 22

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

Question 23

Management of Croup

Answer 23

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

Question 24

First line treatment for croup

Answer 24

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

Question 25

Treatment for acute epiglottitis

Answer 25

* Intubation | * Antibiotics

Question 26

What is APGAR Score?

Answer 26

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

Question 27

What are the signs of a healthy newborn?

Answer 27

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.

Question 28

What is the newborn resuscitation protocol?

Answer 28

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 & reassess every 30s: o Tone o Breathing rate o HR ```

Question 29

Physiology behind hypoxia in new borns

Answer 29

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

Question 30

Why Aerating the lungs > important than Circulation?

Answer 30

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

Question 31

Neonatal physiological reaction to asphyxia

Answer 31

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)

Question 32

Pathogenesis of osetochondritis dissecans

Answer 32

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

Question 33

Epidemiology of osetochondritis dissecans

Answer 33

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

Question 34

Risk factors for osetochondritis dissecans

Answer 34

``` Trauma Male Genetic Iscahemia Abnormal epiphyseal ossification ```

Question 35

Symptoms of osetochondritis dissecans

Answer 35

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

Question 36

Investigations for osetochondritis dissecans

Answer 36

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

Question 37

Prognosis of osetochondritis dissecans

Answer 37

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

Question 38

Common sites affected in osetochondritis dissecans

Answer 38

``` 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) ```

Question 39

Causes of Acute epiglottitis

Answer 39

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

Question 40

Typical features of of Acute epiglottitis

Answer 40

``` Features rapid onset high temperature, generally unwell stridor drooling of saliva ```

Question 41

Presentation of Acute epiglottitis

Answer 41

* 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 ```

Question 42

Management of Acute epiglottitis

Answer 42

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

Question 43

Risk factors of DDH

Answer 43

``` 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

Question 44

Association of DDH with other conditions

Answer 44

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

Question 45

Screening for DDH

Answer 45

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

Question 46

Ix for DDH

Answer 46

• 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

Question 47

management of DDH

Answer 47

* 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

Question 48

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

Answer 48

* 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!

Question 49

Features of Fragile X syndrome

Answer 49

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

Question 50

Diagnosis of Fragile X syndrome

Answer 50

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

Question 51

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

Answer 51

Fragile X syndrome

Question 52

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.

Answer 52

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

Question 53

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.

Answer 53

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.

Question 54

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

Answer 54

Exomphalos and diaphragmatic herniae are commonly associated with malrotation.

Question 55

What is the commonest abdominal emergency in children?

Answer 55

Acute appendicitis

Question 56

Presentation of acute appendicitis

Answer 56

• 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

Question 57

Diagnosing Acute appendicitis

Answer 57

* 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%

Question 58

Management of appendicitis

Answer 58

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

Question 59

What age group is intussusception most common in?

Answer 59

* Usually affect infants btwn 6 – 18 mths of age | * 1/500 children

Question 60

Aetiology of intussusception?

Answer 60

• Viral gastroenteritis (Majority of intussusception!) • Post-operative: o In infants o Typically following nephrectomy • A polyp / Meckel’s diverticulum: o Causes pathological lead point

Question 61

Common sites of intussusception?

Answer 61

``` o Ileocolic (Commonest!) o Ileo-ileal (Involves 2 different parts of ileum) ```

Question 62

Features of intussusception?

Answer 62

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)

Question 63

Examination findings of intussusception?

Answer 63

* Sausage-shaped abdominal mass in RUQ (in 30% of cases) | * Blood on rectal examination

Question 64

Investigation of intussusception?

Answer 64

• 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

Question 65

Management of intussusception?

Answer 65

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

Question 66

What is Meckel's diverticulum

Answer 66

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

Question 67

Presentation of Meckel's diverticulum?

Answer 67

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!!!!!

Question 68

DDx for Meckel's Diverticulum

Answer 68

o Appendicitis | o Diverticulitis

Question 69

Complications of Meckel's Diverticulum?

Answer 69

• 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

Question 70

Ix for Meckel's Diverticulum

Answer 70

• 99mTc-pertechnetate isotope scan (AKA Meckel’s scan): | o Ix of choice to dx MD

Question 71

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

Answer 71

Anorectal pull through - Surgical technique to remove the affected bowel

Question 72

Gold standard investigation to confirm diagnosis of Hirschsprung's disease

Answer 72

Full thickness rectal biopsy

Question 73

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

Answer 73

Bowel irrigation and washout to allow the passage of meconium

Question 74

Pathophysiology of Hirschsprung's disease

Answer 74

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

Question 75

What is the presentation of Hirschsprung's disease

Answer 75

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

Question 76

Risk factors of Hirschsprung's disease

Answer 76

3 times more common in males | Down's syndrome

Question 77

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

Answer 77

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.

Question 78

Treatment for Meckel's diverticulum

Answer 78

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

Question 79

Which age group is UTI most common in children?

Answer 79

> Common in boys until 3 mths of age (Due to > congenital abnormalities) If > 3mths old: Incidence substantially higher in girls

Question 80

What are the features of UTI in infants?

Answer 80

Presentation in childhood depends on age: Infants: poor feeding, vomiting, irritability

Question 81

What are the features of UTI in younger children?

Answer 81

Younger children: abdominal pain, fever, dysuria

Question 82

What are the features of UTI in older children?

Answer 82

Older children: dysuria, frequency, haematuria

Question 83

Features suggestive of upper UTI

Answer 83

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

Question 84

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

Answer 84

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)

Question 85

What is the method of urine collection in children?

Answer 85

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

Question 86

Mx of UTI if child is <3mths old?

Answer 86

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

Question 87

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

Answer 87

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

Question 88

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

Answer 88

``` 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

Question 89

When do you give prophylactic antibiotics for UTI?

Answer 89

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

Question 90

By what age do children achieve day and night continence?

Answer 90

By age 3-4

Question 91

What is the definition of enuresis?

Answer 91

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'

Question 92

Types of nocturnal enuresis?

Answer 92

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)

Question 93

Supportive management of nocturnal enuresis?

Answer 93

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

Question 94

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

Answer 94

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

Question 95

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

Answer 95

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

Question 96

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?

Answer 96

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'.

Question 97

What are the guidelines for children to provide consent?

Answer 97

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*

Question 98

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

Answer 98

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

Question 99

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?

Answer 99

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

Question 100

What is the genetic abnormality in turner syndrome?

Answer 100

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.

Question 101

Features of turner syndrome ?

Answer 101

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

Question 102

Conditions associated with Turner syndrome

Answer 102

Increase in autoimmune conditions: 1. Hypothyroidism --> autoimmune thyroiditis 2. Horse show kidney --> renal function decreases (the most common renal abnormality in Turner's syndrome) 3. Crohn's disease

Question 103

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?

Answer 103

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

Question 104

Hearing test in 6-9 mth olds?

Answer 104

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

Question 105

Hearing test in 18 mth-2.5y olds?

Answer 105

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

Question 106

Hearing test in over 2.5y olds?

Answer 106

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

Question 107

Hearing test in over 3y olds?

Answer 107

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

Question 108

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.

Answer 108

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.

Question 109

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.

Answer 109

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

Question 110

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.

Answer 110

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.

Question 111

Pathophysiology behind Perthes disease?

Answer 111

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

Question 112

Age group affected by Perthes disesae?

Answer 112

4-8 years

Question 113

Risk factors of Perthes disease?

Answer 113

* 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

Question 114

Possible aetiologies of Perthes disease?

Answer 114

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 ```

Question 115

Associated conditions with Perthes disease?

Answer 115

ADHD and short stature

Question 116

Features of Perthes disease?

Answer 116

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!!!!!

Question 117

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

Answer 117

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

Question 118

Signs of Perthes disease

Answer 118

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

Question 119

Classical picture of Perthes disease

Answer 119

* 4-10yo * Progressive * Pain/Painless limp * Limited ROM of hip * Short stature * ADHD

Question 120

Investigation for Perthes disease

Answer 120

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

Question 121

Prognosis of perthes disease?

Answer 121

o Bone age o X-ray appearances Most cases will resolve with conservative management. Early diagnosis improves outcomes.

Question 122

Complications of Perthes disease

Answer 122

Osteoarthritis | premature fusion of the growth plates

Question 123

Names of classification and staging for Perthes disease?

Answer 123

``` Catterall staging Lateral Pillar (Herring) Classification ```

Question 124

What are the X-ray changes in Perthes disease?

Answer 124

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

Question 125

Management of Perthes disease?

Answer 125

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

Question 126

Commonest cause of croup

Answer 126

Parainfluenza virus

Question 127

When do you admit croup patients?

Answer 127

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)

Question 128

Who is necrotising enterocolitis more common in?

Answer 128

Incidence increases with prematurity

Question 129

Pathogenesis of NEC

Answer 129

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

Question 130

Risk factors for NEC

Answer 130

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

Question 131

Presentation of NEC

Answer 131

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

Question 132

Complications of NEC

Answer 132

Bowel perforation - detected using AXR/ Translumination of the abdomen Long-term sequelae - stricture, malabsorption

Question 133

Gold standard investigation for diagnosis of NEC

Answer 133

Abdominal X-ray

Question 134

Features of AXR in NEC

Answer 134

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)

Question 135

Management of NEC

Answer 135

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

Question 136

Prevention of NEC

Answer 136

Supplement milk feeds with prebiotics and probiotics

Question 137

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?

Answer 137

AXR to eliminate NEC

Question 138

Features of childhood sexual abuse in children

Answer 138

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

Question 139

Ages of precocious puberty

Answer 139

8 y- females | 9y - males

Question 140

Types of precocious puberty

Answer 140

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

Question 141

Cyanotic cardiac conditions in children?(3Ts)

Answer 141

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.

Question 142

Acyanotic cardiac conditions?

Answer 142

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.

Question 143

What is the pathogenesis of reflex anoxic seizure?

Answer 143

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.

Question 144

Age groups affected by reflex anoxic seizure?

Answer 144

6mths - 3 years

Question 145

Typical features of reflex anoxic seizure?

Answer 145

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

Question 146

Epidemiology of biliary atresia?

Answer 146

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

Question 147

Types of biliary atresia?

Answer 147

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

Question 148

Presentation of biliary atresia?

Answer 148

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

Question 149

Complications of biliary atresia

Answer 149

Progressive liver disease | Cirrhosis with eventual hepatocellular carcinoma

Question 150

Investigations for diagnosing biliary atresia?

Answer 150

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 !!!! 4. Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis 5. Sweat chloride test: Cystic fibrosis often involves the biliary tract 6. Percutaneous liver biopsy with intraoperative cholangioscopy

Question 151

Management of biliary atresia?

Answer 151

1. Kasai hepatoportoentrostomy - loop of jejunum anastomosed 2. Supportive medications - fat soluble vit supplementation If Kasai unsuccessful --> liver transplantation

Question 152

Important thing to do when baby suspected to have jaundice

Answer 152

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

Question 153

Causes of jaundice in the first 24 hours

Answer 153

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

Question 154

Causes of jaundice in the 2-14 days

Answer 154

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

Question 155

What is prolonged jaundice and how is it diagnosed?

Answer 155

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

Question 156

What are at risk groups for underestimating jaundice?

Answer 156

Preterm babies Dark-skin tone Low threshold to measure SBR for these infants

Question 157

Causes of prolonged jaundice

Answer 157

Unconjugated • hypothyroidism • urinary tract infection • breast milk jaundice Conjugated • biliary atresia • galactosaemia • congenital infections e.g. CMV, toxoplasmosis

Question 158

What causes hand, foot and mouth disease?

Answer 158

Self-limiting condition affecting children | Caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71)

Question 159

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

Answer 159

Very contagious and typically occurs in outbreaks at nursery

Question 160

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

Answer 160

Clinical features * mild systemic upset: sore throat, fever * oral ulcers * followed later by vesicles on the palms and soles of the feet

Question 161

Management of hand, foot and mouth disease?

Answer 161

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.

Question 162

Cardiac conditions associate with turner syndrome

Answer 162

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

Question 163

What are the prodromal symptoms of measles

Answer 163

3 Cs 1. Cough 2. Coryzal 3 Conjunctivitis - non purulent + Koplik spots (Before the rash starts)

Question 164

What are the potential complications associated with measles

Answer 164

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

Question 165

Describe spread of rash in measles

Answer 165

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

Question 166

Investigation for diagnosing measles

Answer 166

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

Question 167

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?

Answer 167

Pneumonia - immediately after infection

Question 168

What is the infectivity period of measles

Answer 168

prodrome - 4 days post-rash

Question 169

Management of measles

Answer 169

supportive and Abx for secondary infections Vitamin A supplementation - prevent complications such as otitis media, viral pneumonia, encephalitis, or corneal ulceration.

Question 170

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.

Answer 170

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.

Question 171

What are the symptoms of scarlet fever

Answer 171

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

Question 172

Describe the rash seen in scarlet fever

Answer 172

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

Question 173

Causative organism of scarlet fever

Answer 173

Group A haemolytic streptococci (usually Streptococcus pyogenes)

Question 174

Diagnosis and management of scarlet fever?

Answer 174

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

Question 175

Complications of scarlet fever?

Answer 175

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

Question 176

Management of scarlet fever?

Answer 176

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

Question 177

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?

Answer 177

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.

Question 178

Emergency treatment for the management of croup exacerbation?

Answer 178

High flow oxygen + nebulised adrenaline

Question 179

Most common presenting complains of cystic fibrosis patients?

Answer 179

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

Question 180

Specific physical features associated with cystic fibrosis

Answer 180

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

Question 181

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?

Answer 181

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

Question 182

What is the cause of Roseala Infantum

Answer 182

HSV-6

Question 183

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

Answer 183

Mostly- X linked dominant (more severe in males) can be autosomal dominant or recessive Defect of Type IV collagen

Question 184

What are the features of Alport's syndrome?

Answer 184

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

Question 185

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

Answer 185

• 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

Question 186

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

Answer 186

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

Question 187

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

Answer 187

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

Question 188

What is the treatment for post streptococcal nephritis?

Answer 188

penicillin V - 10 days | nitruprusside - encephalopathy

Question 189

Differentiating cystitis and pyelonephritis?

Answer 189

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

Question 190

What is the best way of collecting urine samples?

Answer 190

Clean catch = non-invasive Uretheral catheter - if urgent Suprapubic aspiration - under US guidance in severely ill infants

Question 191

What is the triad found in haemolytic uraemic syndrome?

Answer 191

o Microangiopathic haemolytic anaemia - RBCs destroyed squeezing through narrowed blood vessels o Thrombocytopenia - consumption of platelets in small blood vessels o Acute renal failure

Question 192

What is the treatment for haemolytic uraemic syndrome?:

Answer 192

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

Question 193

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

Answer 193

Membranous nephropathy

Question 194

What are the features of Henoch Schönlein pupura

Answer 194

ROJAK Rash - palpable purpura below waist - extensor surfaces of arm and ankle Oedema Joint pain Abdominal pain (bowel vasculitis, intussusception) - colicky pain Kidney - nephritis

Question 195

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

Answer 195

Wilms tumour Chemotherapy - followed by delayed nephrectomy Radiotherapy - restricted to those with more advanced siease

Question 196

Dx of newborn with haematuria

Answer 196

Renal venous thrombosis

Question 197

Why should infants not be fed unmodified cows milk?

Answer 197

It contains low iron content and is poorly absorbed

Question 198

What is the treatment for IDA?

Answer 198

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

Question 199

What are 3 common causes of red cell aplasia?

Answer 199

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

Question 200

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

Answer 200

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

Question 201

What inheritance is hereditary spherocytosis?

Answer 201

Autosomal dominant

Question 202

What are the features of herediatry spherocytosis?

Answer 202

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

Question 203

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

Answer 203

1st line - blood film diagnostic - dye binding assay or osmotic fragility

Question 204

What does the treatment of herediatry spherocytosis involve?

Answer 204

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

Question 205

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

Answer 205

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

Question 206

What are the features of G6PD?

Answer 206

Jaundice, pallor and dark urine Usually neonatal jaundice - first 3 days of life

Question 207

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

Answer 207

Increased reticulocytes - cause falsely increased levelsq

Question 208

What are the features of sickle cell anaemia?

Answer 208

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

Question 209

When is the diagnosis of sickle cell anaemia made?

Answer 209

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

Question 210

What is the prophylaxis to be administered in sickle cell?

Answer 210

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

Question 211

What is the treatment of acute crisis in sickle cell?

Answer 211

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

Question 212

What is the long term treatment for sickle cell?

Answer 212

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

Question 213

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

Answer 213

``` o Short stature o Abnormal radii & 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)

Question 214

What is increased in Haemophilia?

Answer 214

aPTT

Question 215

What is the treatment of haemophilia?

Answer 215

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

Question 216

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

Answer 216

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

Question 217

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

Answer 217

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

Question 218

How is VWF deficiency treated?

Answer 218

Less severe - desmopressin

Question 219

What cardiac abnormalities are caused by rubella infection?

Answer 219

Peripheral pulmonary stenosis, PDA

Question 220

What cardiac abnormalities are caused by SLE?

Answer 220

complete heart block

Question 221

What cardiac abnormalities are caused by warfarin therpay?

Answer 221

Pulmonary valve stenosis, PDA

Question 222

What cardiac abnormalities are caused by foetal alcohol syndrome?

Answer 222

ASD, VSD, ToF

Question 223

What cardiac abnormalities are caused by Down syndrome?

Answer 223

Atrioventricular septal defect, VSD

Question 224

What cardiac abnormalities are caused by Turner syndrome?

Answer 224

Coarctation of the aorta and Aortic valve stenosis

Question 225

What cardiac abnormalities are caused by di george syndrome?

Answer 225

Aortic arch anomalies, tetralogy of fallot, common arterial trunk

Question 226

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

Answer 226

Supravalvular aortic stenosis, peripheral pulmonary artery stenosis

Question 227

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

Answer 227

HOCM, ASD and pulmonary valve stenosis

Question 228

What are the features of an innocent murmur?

Answer 228

``` 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

Question 229

What can cause innocent murmurs?

Answer 229

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

Question 230

Causes of heart failure in neonates?

Answer 230

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

Question 231

Causes of heart failure in infants?

Answer 231

1. VSD 2. AVSD 3. Large persistent ductus arterosus

Question 232

Causes of heart failure in older children?

Answer 232

Eisenmenger sydnrome Rheumatic heart disease cardiomyopathy

Question 233

What is the first line Ix for CHD? Gold standard? When do you refer to specialist?

Answer 233

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

Question 234

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.

Answer 234

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.

Question 235

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.

Answer 235

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.

Question 236

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.

Answer 236

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

Question 237

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.

Answer 237

transposition of great arteries ToF classically presents later in life at 2mth and usually has hypercyanotic spells

Question 238

What antibodies do the children build in DM?

Answer 238

o Glutamic acid decarboxylase o Islet cells o Insulin

Question 239

Who do you suspect Type 1 DM in?

Answer 239

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

Question 240

Who do you suspect Type 2 DM in?

Answer 240

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

Question 241

What are the types of human insulin analogues?

Answer 241

Rapid acting - Faster onset (Insulin lispro- Humanlog, Insulin Glulisine - Apidra, Insulin aspart - Novorapid) Very long acting - Insulin determir (Levemir) and Glargine (lantus)

Question 242

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

Answer 242

* Onset of action = 30-60 mins * Peak = 2-4 hrs o Actrapid© o Humulin S©

Question 243

What are the types of intermediate acting human regular insulin?

Answer 243

* Onset = 1-2 hrs * Peak = 4-12 hrs Isophane insulin = Insulin with protamine; eg: o Insulatard© o Humulin I©

Question 244

What is the overview of steps in DKA management?

Answer 244

1. IV Fluids - If mild - no bolus, If severe - 0.9% saline (10ml/kg) Maintenance fluids - 0.9% saline + 40 mmol/KCL -12hrs 2. Insulin - IV (1 hr after IV fluids are started) -0.1 units/kg/h + 5% glucose if blood glucose drops <15 3. Potassium - after you urinate 4. Do not stop IV insulin until after 1 hr after the subcutaenous insulin is given

Question 245

What is the maintenance fluid in DKA?

Answer 245

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

Question 246

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

Answer 246

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)

Question 247

What does FBC show in DKA?

Answer 247

Neutrophilia with no fever

Question 248

What is the definition of DKA?

Answer 248

``` 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 ```

Question 249

What is the treatment of hypoglycaemia?

Answer 249

Form of easily absorbed glucose - glucose tablets or Lucozade Oral glucose gels (Eg: Glucogel) Glucagon injection kit (1.0mg):

Question 250

What are the congenital causes of hypothyroidism?

Answer 250

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

Question 251

What is the cause of acquired hypothyroidism?

Answer 251

Autoimmune thyroiditis - increased risk in down syndrome and turner syndrome increased risk of developing other auto-immune disorders - vitiligo, rheumatoid arthritis, DM

Question 252

What is the deficiency in CAH?

Answer 252

21-hydroxylase

Question 253

What is the hormonal problem in CAH?

Answer 253

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

Question 254

what are the biochemical findings of CAH?

Answer 254

Low plasma sodium High plasma pottasium Metabolic acidosis Hypoglycaemia

Question 255

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

Answer 255

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

Question 256

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

Answer 256

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

Question 257

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?

Answer 257

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

Question 258

What is the treatment for non-bullous impetigo?

Answer 258

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.

Question 259

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

Answer 259

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]

Question 260

What is the commonest cause of hypothyroidism in the UK?

Answer 260

Autoimmune thyroiditis

Question 261

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

Answer 261

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)

Question 262

How are the hypercyanotic spells in TOF treated?

Answer 262

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

Question 263

Where does eczema manifest in different age groups?

Answer 263

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

Question 264

What is the management of eczema?

Answer 264

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) 3. Severe cases wet wraps and oral ciclosporin may be used

Question 265

What are the features of kawasaki's disease?

Answer 265

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

Question 266

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

Answer 266

Coronary artery aneruysm - perform echo if suspected Also start on high dose aspirin - prophylaxis

Question 267

What is the management of Kawasaki's disease?

Answer 267

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

Question 268

What is the mumur heard in an ASD?

Answer 268

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

Question 269

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?

Answer 269

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

Question 270

Commonest fractures associated with child abuse?

Answer 270

- Radial - Humeral - Femoral

Question 271

What are the varying severities of Alpha-thalassaemia | ?

Answer 271

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)

Question 272

What are the features of Diamond blackfann anaemia?

Answer 272

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

Question 273

What are the features of fanconi anaemia?

Answer 273

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

Question 274

What are the drugs that can cause aplastic anaemia?

Answer 274

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

Question 275

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

Answer 275

Osteomyelitis - caused by salmonella enterica

Question 276

Differentiating DIC from HUS?

Answer 276

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

Question 277

What are the drugs that can trigger G6PD?

Answer 277

Antimalarial - primaquine, quinine, chloroquine | Antibiotics - sulphonamide (co-triamoxazole), Quinolones (ciprofloxacin) , nitrofurantoin

Question 278

What are the risk factors for sudden infant death syndrome?

Answer 278

- 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

Question 279

What are the protective factors for sudden infant death syndrome?

Answer 279

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

Question 280

What is the pathophysiology in PKU?

Answer 280

- 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

Question 281

what are the features of PKU?

Answer 281

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

Question 282

How is PKU diagnosed?

Answer 282

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

Question 283

What is the pathophysiology in homocystinuria?

Answer 283

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

Question 284

what are the features of homocystinuria?

Answer 284

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

Question 285

What is the diagnostic test and management of homocystinuria?

Answer 285

Diagnostic test - cyanide-nitroprusside test, which is also positive in cystinuria. ``` Low protein diet + Pyridoxine + Folic acid ```

Question 286

What is the pathophysiology of maple syrup urine?

Answer 286

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

Question 287

what are the features of maple syrup urine?

Answer 287

- 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)

Question 288

What is the treatment of maple syrup urine?

Answer 288

Low protein diet

Question 289

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

Answer 289

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

Question 290

What are the features of MCAD deficiency?

Answer 290

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

Question 291

What are the causes of increased unconjugated bilirubin?

Answer 291

Gilbert's syndrome | Crigler-Najjar syndrome

Question 292

What are the causes of increased conjugated bilirubin?

Answer 292

Dubin-Johnson syndrome | Rotor syndrome

Question 293

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

Answer 293

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

Question 294

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

Answer 294

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)

Question 295

What are the features of dubin-johnson syndrome?

Answer 295

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

Question 296

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?

Answer 296

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

Question 297

How does rotavirus present differently from norovirus?

Answer 297

* URTI signs (Common in rotavirus!) | * Vomiting (Predominates with Norovirus!)

Question 298

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

Answer 298

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

Question 299

What are the complications of undescended testes?

Answer 299

- Infertility - Torsion - Testicular cancer - Psychological

Question 300

By when is it expected for the testes to descend?

Answer 300

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

Question 301

How is a unilateral undescended testes managed?

Answer 301

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

Question 302

How is a bilateral undescended testes managed?

Answer 302

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

Question 303

What are the characteristic features of Kleinfleters syndrome?

Answer 303

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

Question 304

What are the characteristic features of Kallman syndrome?

Answer 304

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

Question 305

What are the types of precocious puberty?

Answer 305

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

Question 306

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

Answer 306

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

Question 307

What are the features of Mcune Albright syndrome?

Answer 307

3 P's: 1. Polyostotic fibrous dysplasia - fibrous replacement of skeletal tissue 2. Pigmentation (cafe au lait spots) 3. Precocious puberty

Question 308

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

Answer 308

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

Question 309

What are the typical features of prader-willi syndrome?

Answer 309

- 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

Question 310

What are the typical features of Angelman syndrome?

Answer 310

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

Question 311

What heart defect is common with fragile x syndrome?

Answer 311

Mitral valve prolapse

Question 312

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

Answer 312

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).

Question 313

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

Answer 313

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

Question 314

What is the hormonal test results for kleinfelters?

Answer 314

testerone is low Thus FSH and LH are high (negative feedback is intact) It is a hypergonadratrophic hypogonadism

Question 315

What are the features of di-george syndrome?

Answer 315

* 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 & Thymus) B = Below average height (Short stature) C = Cardiac defects D = Dysmorphism ```

Question 316

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

Answer 316

mitral valve prolapse, aortic aneurysm, and dissection • Mutation of FBN1 gene on chromosome 15q

Question 317

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

Answer 317

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

Question 318

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

Answer 318

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

Question 319

What is the cardiac abnormality associated with duchenne muscular dystrophy?

Answer 319

Dilated cardiomyopathy - common cause of death

Question 320

What is the diagnostic test available for CF?

Answer 320

Heel prick test (Guthrie): ↑ Immumoreactive trypsinogen (IRT) Sweat test = Usually after +ve for heel prick test: (Increased levels in CF patients)

Question 321

What are the causes of false positive sweat test?

Answer 321

```  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

Question 322

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

Answer 322

o Staphylococcus aureus o Pseudomonas aeruginosa o Burkholderia cepacian o Aspergillus

Question 323

What diet is recommended for CF?

Answer 323

High calorie + high fat

Question 324

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

Answer 324

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)

Question 325

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

Answer 325

Trisomy 18 | Female

Question 326

What are the features of edwards syndrome?

Answer 326

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)

Question 327

what are the features of patau syndrome?

Answer 327

``` 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 ```

Question 328

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

Answer 328

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

Question 329

What are the ocular features in down's syndrome?

Answer 329

- 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)

Question 330

What are the skeletal features in down's syndrome?

Answer 330

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

Question 331

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

Answer 331

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 ```

Question 332

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

Answer 332

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

Question 333

What is the mutation affected in marfan's syndrome?

Answer 333

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

Question 334

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?

Answer 334

Angel man syndrome - Microdeletion of maternal 15q11-q13

Question 335

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

Answer 335

Togavirus -Airborne droplets or transplacental

Question 336

What are the characteristic features of rubella infection?

Answer 336

- 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

Question 337

What are the complications of rubella infection?

Answer 337

arthritis thrombocytopaenia encephalitis myocarditis

Question 338

What are the features of congenital rubella syndrome?

Answer 338

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

Question 339

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?

Answer 339

Parvovirus B19

Question 340

What are the feature of Erythema infectiosum ?

Answer 340

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

Question 341

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

Answer 341

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

Question 342

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

Answer 342

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

Question 343

What is the management of infectious mononucleosis?

Answer 343

- 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

Question 344

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

Answer 344

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

Question 345

What is the most common complication of rosela infantum?

Answer 345

Febrile convulsions

Question 346

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

Answer 346

Staph. aureus and pyogenes 'golden', crusted skin lesions typically found around the mouth

Question 347

What is the management of impetigo? school exlusion?

Answer 347

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

Question 348

What is the management of chickenpox?

Answer 348

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

Question 349

What are the complications of chicken pox?

Answer 349

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

Question 350

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

Answer 350

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.

Question 351

How is whooping cough diagnosed and managed?

Answer 351

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

Question 352

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

Answer 352

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

Question 353

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

Answer 353

- 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)

Question 354

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

Answer 354

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.

Question 355

What are the drugs that can induce steven johnson syndrome?

Answer 355

- 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

Question 356

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?

Answer 356

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

Question 357

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?

Answer 357

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.

Question 358

What is the typical presentation of eczema?

Answer 358

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

Question 359

What is the management of moderate eczema and severe eczema?

Answer 359

Moderate - simple emollients Severe - wet wraps and oral ciclosporin may be used

Question 360

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

Answer 360

Local - erythema migrans systemic symptoms: malaise, fever, arthralgia Later features: CVS: heart block, myocarditis Neurological: cranial nerve palsies, meningitis Polyarthritis

Question 361

What causes lyme disease and how is it managed?

Answer 361

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

Question 362

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?

Answer 362

Roseala infantum Very high fever --> Fever resolves --> rash appears

Question 363

What is the aetiology of respiratory distress syndrome?

Answer 363

- 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

Question 364

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

Answer 364

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

Question 365

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?

Answer 365

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

Question 366

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

Answer 366

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

Question 367

What are the cutoffs for the APGAR SCORE

Answer 367

Appearance, Pulse, Grimace, activity, respirations Reassuring: 7–10 Moderately abnormal: 4–6 Low: 0–3

Question 368

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?

Answer 368

Supportive care - diagnosis - TTN

Question 369

What are the X-ray features of RDS?

Answer 369

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

Question 370

Why are all neonates given vitamin K?

Answer 370

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

Question 371

What are the steps of management for RDS?

Answer 371

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

Question 372

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

Answer 372

Benzylpenicillin/ Amoxicillin + Gentamicin

Question 373

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

Answer 373

Flucloxacillin + Gentamicin

Question 374

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

Answer 374

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

Question 375

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

Answer 375

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)

Question 376

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

Answer 376

- 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

Question 377

Differentiate ABO incompatibility from rhesus incompatibility

Answer 377

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

Question 378

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

Answer 378

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

Question 379

What are the diagnostic tests required for neonatal jaundice?

Answer 379

• 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

Question 380

What is the guidelines for phototherapy in neonatal jaundice?

Answer 380

- 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

Question 381

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

Answer 381

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

Question 382

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

Answer 382

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

Question 383

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

Answer 383

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

Question 384

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

Answer 384

- 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

Question 385

How do you differentiate Congenital CMV infection from Congenital taxoplasmosis?

Answer 385

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

Question 386

How are gastroschisis and examphalos managed differently?

Answer 386

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

Question 387

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

Answer 387

Microcephaly, flat philtrum, short palpebral fissures, hypertelorism, depressed nasal bridge, and micrognathia. Hyperactivity and inattention and intellectual disability

Question 388

What are the risk factors for cleft lip deformities?

Answer 388

Events in pregnancy: - Maternal antiepileptic use ↑ risk - Smoking - BDZ use - Rubella infection

Question 389

What are the problems associated with cleft lip deformities?

Answer 389

* 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

Question 390

When are cleft lip deformities to be fixed?

Answer 390

* 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

Question 391

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

Answer 391

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

Question 392

What is ambylopia? What causes it?

Answer 392

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

Question 393

How is ambylopia managed?

Answer 393

• 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)

Question 394

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

Answer 394

* Divergent * Paralytic (Non-concomitant) * Persisting > 3 mths old

Question 395

What is the Mx of status epilepticus?

Answer 395

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

Question 396

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

Answer 396

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

Question 397

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

Answer 397

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

Question 398

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

Answer 398

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

Question 399

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

Answer 399

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.)

Question 400

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

Answer 400

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

Question 401

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

Answer 401

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

Question 402

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

Answer 402

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

Question 403

What is the management of cerebral palsy?

Answer 403

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

Question 404

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

Answer 404

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%

Question 405

What are the tympanometery findings of otitis media?

Answer 405

bulging and red

Question 406

When are antibiotics prescribed in otitis media?

Answer 406

- 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

Question 407

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

Answer 407

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

Question 408

What are the complications of acute tonsillitis?

Answer 408

- otitis media - quinsy - peritonsillar abscess - Rheumatic fever and glomerulonephritis very rarely

Question 409

What are the indications for tonsillectomy?

Answer 409

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

Question 410

What is the otoscopy finding of glue ear?

Answer 410

dull and retracted ear drum with visible fluid level

Question 411

What is the given to close the PDA?

Answer 411

Indomethicin or Ibuprofen - NSAIDs

Question 412

How are headlice diagnosed? How is treated?

Answer 412

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

Question 413

What are the CI for lumbar puncture?

Answer 413

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.

Question 414

What is the treatment for meningitis?

Answer 414

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

Question 415

What are the hearing tests done routinely?

Answer 415

Otoacoustic emission test - done before discharge Auditory brainstem response test - if otoacoustic test is abnormal Distraction test - performed at 6-9mths

Question 416

What are the 5 most common causes of nappy rash?

Answer 416

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

Question 417

What is the general management of nappy rash?

Answer 417

- 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

Question 418

What is the management of phimosis?

Answer 418

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

Question 419

How do you differentiate testicular torsion and torsion of morgani?

Answer 419

Torsion of morgani has similar symptoms as testicular torsion but the symptoms are less severe There is a blue dot

Question 420

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

Answer 420

After an infection or vaccine Antibodies against glycoprotein IIb/IIIa or Ib-V-IX complex.

Question 421

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?

Answer 421

ITP

Question 422

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

Answer 422

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

Question 423

What is the diagnostic test and management of SUFE?

Answer 423

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

Question 424

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

Answer 424

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

Question 425

What are the features of achondroplasia?

Answer 425

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

Question 426

What is the main risk of achondroplasia?

Answer 426

Paternal age at the time of conception

Question 427

What is the triad in autism?

Answer 427

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

Question 428

What are the features of osteogenesis imprerfecta?

Answer 428

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).

Question 429

When do you intervene for obesity in children?

Answer 429

Consider tailored clinical intervention if BMI at 91st centile or above. Consider assessing for comorbidities if BMI at 98th centile or above

Question 430

List some causes of obesity in children?

Answer 430

- Growth hormone deficiency - Hypothyroidism - Down's syndrome - Cushing's syndrome - Prader-Willi syndrome

Question 431

List come consequences of obesity in children?

Answer 431

- 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

Question 432

What is the typical age of onset of autism?

Answer 432

Usually before the age of 3 | after the age of 3 - usually atypical autism

Question 433

What is the diagnostic criteria for autism?

Answer 433

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.

Question 434

Whats the difference between Asperger syndrome and autism?

Answer 434

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 ```

Question 435

What are the features of Rett's syndrome?

Answer 435

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

Question 436

What's the triad seen in ADHD?

Answer 436

- Inattention - Hyperactivity - Impulsivity

Question 437

What is the diagnostic criteria for ADHD?

Answer 437

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.

Question 438

What does the treatment of ADHD involve?

Answer 438

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

Question 439

What do you monitor after prescribing methylphenidate?

Answer 439

Monitor weight & height every 6 mths Can also be cardiotoxic: - Baseline ECG before starting treatment - Refer to cardiologist if significant PMH/FH

Question 440

Which cephalosporin is CI in meningitis <3mths old?

Answer 440

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.

Question 441

What is the prophylaxis for meningitis

Answer 441

ciprofloxacin

Question 442

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

Answer 442

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.

Question 443

What are the common haemorrhages in children?

Answer 443

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

Question 444

What are the poor prognostic factors in ALL?

Answer 444

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

Question 445

What are the features of atypical UTI?

Answer 445

- 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

Question 446

What is the definition of recurrent UTI?

Answer 446

- 2 or more upper UTI or pyelonephritis - 1 upper UTI and 1 lower UTI - 3 or more lower UTI

Question 447

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

Answer 447

* 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

Question 448

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

Answer 448

* 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

Question 449

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

Answer 449

* 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)

Question 450

What causes peri-orbital and orbital cellulitis?

Answer 450

Commonly preceded by bacterial sinus infection

Question 451

How are peri-orbital and orbital cellulitis different clinically?

Answer 451

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.

Question 452

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

Answer 452

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

Question 453

What is the management of periorbittal cellulitis?

Answer 453

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

Question 454

Which CHD is the most associated in infants with diabetic mothers

Answer 454

TGA

Question 455

What is the kocher criteria?

Answer 455

- 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

Question 456

What is the main criteria for all JIA?

Answer 456

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

Question 457

What are the markers found in different JIAs?

Answer 457

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

Question 458

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

Answer 458

- 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

Question 459

what are conditions which are inherited through a mitochondrial mode?

Answer 459

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

Question 460

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

Answer 460

NSAIDS - ibuprofen

Question 461

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

Answer 461

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

Question 462

when do you check for urine sample in children?

Answer 462

- 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)

Question 463

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

Answer 463

Burkholderia cepacia | Pseudomonas aeruginosa

Question 464

what is the treatment for pyloric stenosis?

Answer 464

ramstedt pyloromyotomy