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Phase 3A (HV) > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

What routine immunisations are given to children 2 months old?

A

Ratovirus
6 in 1
Men B

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2
Q

What routine immunisations are given to children 3 months old?

A

6 in 1
Rotavirus
Pneumococcal

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3
Q

What routine immunisations are given to children 4 months old

A

6 in 1
Men B

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4
Q

What routine immunisations are given to children between the ages of 12-13 months?

A

Haemophilius influenzae type B/Men C
MMR
Men B
Pneumococcal

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5
Q

What routine immunisations can be given to children every year from the age of 2+ years, how is it administered?

A

Annual influenza- given via both nostrils

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6
Q

What routine immunisations are given to children between 3 years and 4 months - 5 years?

A

4 in 1 (diphtheria, polio, pertussis, tetanus)
MMR

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7
Q

What immunisations are given to children from the ages of 12-14 years age?

A

12-13 yrs- boys and girls offered the HPV

14- tetanus, diphtheria, polio (3 in 1) and Men ACWY

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8
Q

What is the prophylaxis medication for bronchiolitis?

A

Palivizumab- only administered in high risk patients (premature infants, CHD)

Given as a monthly injection)

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9
Q

What is a major complication of bronchiolitis?

A

Bronchiolitis obliterans- (aka popcorn lung) permanent obstruction of bronchioles due to chronic inflammation and resultant scar tissue formation.

Diagnosis is via CT scans, measure of lung function (significantly reduced FEV1)

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10
Q

Name 3 RF and 5 Sx of bronchiolitis?

A

Rf- prematurity, winter months, CHD

Sx- Coryzal Sx and mild fever precedes, dry cough, wheezing, grunting, feeding difficulties w/ increasing dyspnoea, intercostal recession

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11
Q

What is the most likely causative agent in pneumonia in children? What is the mx?

A

Strep pneumoniae

Mx-
1st line- amoxicillin
If no response add a Macrolides

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12
Q

What age group is croup most prevalent in, and give 5 Sx?

A

6months - 3 years

Seal like barky cough
Fever
Stridor
Agitation
Coryzal Sx

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13
Q

What routine vaccination in the UK has decreased the incidence of epiglottis in children?

A

Haemophilius influenzae B (HiB)

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14
Q

Give 5sx of epiglottitis and the appropriate management?

A

Fever
Stridor
Muffled voice
Tripod position **
Drooling if saliva **
Dysphagia

Mx- secure airway
+IV abx, supplemental oxygen, corticosteroids

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15
Q

What is the 1st line and Gs investigation for epiglottitis

A

1st line- lateral radiograph (thumb sign)

Gs- laryngoscope

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16
Q

What is the management of acute asthma in children?

A
  • supplemental oxygen if says <94%
  • bronchodilators (stepwise approach)
    —nebulised salbutamol
    —nebulised ipratropium bromide
    —Iv magnesium sulphate
    —iv aminophyline
  • steroids
    — po prednisalone
    —iv hydrocortisone
  • abx if required
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17
Q

When administrating high doses of salbutamol when mx acute asthma what should me monitored?

A

Monitor serum potassium-

Se of salbutamol- tachycardia and tremor

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18
Q

What is the 3 grade severity of acute asthma?

A

Moderate-
PEFR >50%

Severe-
PEFR <50%, broken sentences, signs of rd

Life threatening
PEFR <33%
Exhaustion and poor reps effort
Altered consciousness

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19
Q

Name 5 triggers of acute asthma?

A

Infection
Cold weather
Excercise
Allergens
Stress
Irritants
Food allergies

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20
Q

Management of asthma in children under 5?

A

SABA
+low dose ICS or LTRA
+other option
Refer to asthma specialist

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21
Q

Management of asthma in children 5-16?

A

SABA
+low dose ICS
+LTRA
stop LTRA and start LABA
Stop Ics/LABA and start MART regime (mart includes ICS)
Refer

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22
Q

What is CF?

A

Autosomal recessive disorder characterised by genetic mutation of CFTR gene on chr 7

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23
Q

What is the Ix for a diagnosis of CF?

A

1st line- new born screening (immunorecative trypsinogen test)- HEEL PRICK

GS- SWAET TEST >60mmol/l of chloride conc

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24
Q

Give 5 signs and symptoms of CF?

A

FTT
Failure to pass meconium
Bilateral absence of vas deferens in males
Steatorrhoea
Recurrent resp infections

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25
Q

What is primary ciliary dyskinesia and what’s other condition is it strongly linked with?

A

PCD (aka kartangers syndrome) is an autosomal recessive condition that affects the cilia of various cells.

Strongly liked with SITUS INVERTUS

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26
Q

What is the GS ix of PCD and list 5 Sx?

A

Gs ix- nasal brushing/bronchoscopy

Sx
Paranasal sinusitis
Bronchiecstatsis
Subfertility
Situs invertus
Chronic cough
Recurrent infections
secretory otitis media

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27
Q

What is the causative agent in whooping cough?

A

Bordatella pertussis (gram-ve bacteria)

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28
Q

What is the management of whooping cough?

A

Inform PHE- pertsusis is a notifiable disease
Supportive care
Abx
- infant <1month- Macrolides e.g. azithromycin
- infant >1 month and children- Macrolides/trimethoprim
Prophylaxis abx to contacts-Eyrthromycin

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29
Q

What factors would support the diagnosis of a viral induced wheeze rather than asthma?

A
  1. In children less than 3 years of age
  2. No hx of atopy
  3. Only occurs during viral infections
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30
Q

Gs Ix of whooping cough, and give 5 Sx?

A

Gs- culture of nasopharyngeal swab

Sx-
Whooping cough
Rhinorrhea
Post tussive emesis
Absent/low grade fever
Decreased appetite

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31
Q

What is laryngomalacia and give signs and symptoms, Ix, and mx?

A

Laryngomalacia is a congenital abnormality of the larynx, where supraglortic larynx results I. Upper airway obstruction

Inspiratory stridor (onset within 2 weeks of birth)- becomes worse if feeding, upset, lying in back
Normal cry
Feeding difficulties

Ix- GS- flexible laryngoscope (omega shape)

Mx- usually resolves as ageing
Tracheostomy (rare)
Surgery

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32
Q

What is the Ix for anaphylaxis?

A

Gs- Serum mast cell tryptase- measured within 6 hours of reaction

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33
Q

Management of anaphylaxis, give appropriate measure of adrenaline in each age group?

A

ABCDE assessment
IM adrenaline (repeat after t minutes if no improvement)
—< 6months- 100-150 mcg
— >6 months - 6 years- 150 mcg
— 6-12 years- 300mcg
— 12+- 500mcg

Antihistamines (chlamphenamine or certrizine)
Steroids- iv hydrocortisone

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34
Q

What is Kawasakis disease and list it’s criteria for diagnosis?

A

Kawasaki disease is a large vessel vasculitis.

Fever > 5 days and 4 more of the below symptoms
1) bilateral conjunctivitis
2) cervical lymphadenopathy
3) polymorphic rash
4) cracked lips/strawberry tongue
5) oedema / desquamation of hands/feet

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35
Q

What is the management for kawasakis?

A

High dose aspirin
Ivig
Echo

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36
Q

What is the investigation of choice to diagnose intersucception?

A

Uss- target sign/sausage shape in RUQ

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37
Q

List 4 symptoms of intussusception?

A

Blood stained stool ‘redcurrant jelly’ (late sign)
Episodic crying
Drawing legs towards chest and going pale
Vomiting

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38
Q

Mx of intussusception?

A

Reduction by air insufflation

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39
Q

What is the main cause of scarlets fever?

A

Group A strep

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40
Q

What is the features of scarlets fever?

A

Sandpaper rash (first appears on torso then spreads)
Strawberry tongue
Fever prior to rash for 1-2 days

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41
Q

Tx of scarlets fever?

A

Notifiable disease

Oral phenoxymethylpenicillin 10 days
children can return to school 24 hours after commencing abx

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42
Q

List the 4 features of TOF?

A

VSD
RV hypertrophy
RV outflow tract obstruction
Overriding aorta

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43
Q

What is meckels diverticulum?

A

A congenital diverticulum of small intestine. Remnant of omphalomesenteric duct

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44
Q

When should meckels diverticulum be suspected and what’s the choice of investigation?

A

In children <2 years with lower GI bleed

In stable children- Technetium scan
Unstable- MESENTERIC arteriography

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45
Q

Describe the murmur found in PDA?

A

Continuous ‘machienery’ murmur- loudest under left clavicle

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46
Q

What are the Sx of biliary atresia and what is the common findings on Ix?

A

Sx-n
Jaundice extending beyond 2 w physiological jaundice
Dark urine
Pale stools
Appetite and growth disturbances
Hepatomegaly

Ix-
Increase in liver transaminases (GGT ***)
Increase in conjugated bilirubin

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47
Q

What is the causative agent of hand foot and mouth?

A

Cocksackie a16

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48
Q

What is perthes disease?

A

Degenerative disease affecting the femoral head causing a vascular necrosis of femoral head

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49
Q

What are the finding of perthes disease on X-ray?

A

Widening of joint space
Decrease in femoral neadnsize- flattening

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50
Q

List the features that is supportive of a measles diagnosis?

A

Prodromal- irritable, conjunctivitis, fever
Koplik spots- white spots in buccal mucosa
Rash- starts behind ear

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51
Q

What is the main complication of measles?

A

Otitis media
Pneumonia (most common cause of death)

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52
Q

List the notifiable rashes to PHE?

A

Measles
Scarlet fever
Rubella

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53
Q

What is the formula for working out maintenance fluid requirement in children?

A

1st 10 kg of body weight at 100ml/kg/day
2nd 10 kg of body weight at 50ml/kg/day
Remaining body weight at 20ml/kg/day

MAX fluid for girls- 2000ml
MAX fluid for boys- 2500ml

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54
Q

What is the most common cause of an abdominal mass in children?

A

Wilm’s tumour (nephroblastoma)

Occurs in children <5
Does not cross midline

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55
Q

What is the rescue medication given to children who suffer from febrile convulsions?

A

Buccal midazolam

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56
Q

List 3 features of Down’s syndrome?

A

Epicanthic foods
Short neck and stature
Single palmar crease

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57
Q

List 3 features of trisomy 13?

A

Patau’s syndrome

Polydactyl
Microcephaly
Celt lip/palate

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58
Q

List 3 features of trisomy 18?

A

Edward’s syndrome (ROME)
Do not survive more than a few months

Rocker bottom feet
Overlapping 4th and 5th fingers
Microgranthia
Low ears

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59
Q

What is the most common causative organism for
A) croup
B) bronchiolitis
C) whooping cough

A

A) parainfluenzae virus
B) RSV
C) bordatella pertussis

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60
Q

What is the common organism responsible for roseola infantum and what’s the most common complication associated with this disease?

A

HHV6
Complication- febrile convulsions

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61
Q

What is the management of omphalocele and how does this differ from gastroschisis?

A

Gastroschisis- bowel protruding without sac- urgent surgery required

Omphalocele/exomphalos- bowel protruding with sac- staged closure starting immediately w/ completion at 6-12 months

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62
Q

What x ray findings are concurrent with NEC?

A

Pneumoperitoneum
Pneumatosis intestinalis
Dilated bowel loops
Bowel wall oedema

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63
Q

List the 5 features of innocent murmurs?

A

5s
Soft
Systolic
Short
Symptomless
Situation dependent- quieter on standing, only appearing on unwell children)

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64
Q

What is ebsteins anamoly and what causes it?

A

When the tricuspid valve in the RA is set lower near the apex therefore big RA and small RV

Exposure to lithium in utero **

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65
Q

What is syndrome is coarctation of the aorta associated with, and give Sx of CoA in children?

A

CoA associated with Turner’s Syndrome

Neonates- weak femoral pulses
Systolic murmur (loudest between the scapulae)
Gray and floppy baby
Radiofemoral delay

Ix- perform 4 limb BP

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66
Q

What is rheumatic fever?

A

An autoimmune disease that occurs after a group A strep throat infection that can affect joints, heart, brain and skin. Occurs 2-4 weeks after infection

A type 2 hypersensitivity reaction caused by group a beta haemolytic strep (strep pyogenes)

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67
Q

List 5 symptoms of rheumatic fever?

A

Joint pain
Erythema marginatum rash (pink rings on torso + prox limbs)
Chorea
Murmurs (pansystolic because mitral valve most affected)
Subcutaneous nodules
Fever
Recent throat infection/scarlet fever

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68
Q

What is the criteria used to diagnose rheumatic fever and it’s subsequent mx?

A

JONES CRITERIA (2 major or 1 major + 2 minor)
Major (JONES)- Joint arthritis, Organ inflammation, Nodules, Erythema marginatum, Syndeham chorea
Minor (FEAR) Fever, ECG changes, Arthralgia, Raised inflam markers

Ix- throat swab, ABO titre, Echo/ECG/CXR

Mx- treat strep infection- penicillin V for 10 days

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69
Q

What is TGA and explain the types?

A

When pulmonary artery and aorta swap positions.

There’s two types-
1) dTGA- where the aorta and pulmonary artery swap places so there’s 2 completely separate circulation systems
So RA—RV—Aorta—Body—RA…..
And LA—LV—PA—lungs—LA—LV…
No Sx in baby in utero but causes death on birth however can survive if PDA/VSD

2)lTGA- essentially where ventricles and associated valves swap places so essentially
RA—LV—PA—Lungs—LA—RV—Aorta—Body
Basically valves not built for the pressures so can cause RV hypertrophy —> HF

SX-
loud single s2
No murmur
Ventricular pulse

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70
Q

What are the 4 features of TOF?

A

Overriding aorta
VSD
Right ventricular hypertrophy
PV stenosis

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71
Q

Sx and mx of TOF?

A

Sx appear roughly 1-6 months and associated with trisomy 21, 18, 13, and digeorge
Harsh ejection systolic murmur
Cyanosis
Poor feeding
Tet spells
2-4 months- reduced consciousness, irritable, SOB
Toddlers- squat

Mx- neonates given prostaglandin infusion (maintains PDA)

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72
Q

List 3 causes of PDA?

A

Congenital rubella
Prematurity
Perinatal distress

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73
Q

Explain the pathophysiology of PDA?

A

In utero DA kept open by prostaglandin E2. At birth level of PE2 drop and lungs produce bradykinin which constricts PDA. Should disappear 3 weeks post birth

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74
Q

List 5 sx (+ type of murmur) and mx of PDA

A

SOB
Apnoea
Cyanosis- once eisenmengers syndrome
FTT
Gibson machinery murmur (loudest at left infraclavicular area)

Tx- indomethacin/ibuprofen +/- surgical ligation

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75
Q

What murmurs are associated with VSD and ASD, and what conditions are these both associated with/

A

VSD and ASD associated with FAS and T21
VSD- most common CHD- pansystolic murmur
ASD- ejection systolic murmur

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76
Q

Describe the rash associated with JIA?

A

Salmon pink rash

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77
Q

Give the features of nephrotic syndrome?

A

Oedema
High Proteinuria
Hypoalbuminaemia
Hyperlipidemia

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78
Q

What is the most common cause of nephrotic syndrome in children, give 3 symptoms and list it’s mx?

A

Minimal change disease- Often following an URTI

Sx- facial swelling/eye puffiness, frothy urine, fatigue

Ix- urine test, blood tests (albumin and cholesterol)

Mx- corticosteroids (prednisalone)

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79
Q

What is Toddlers diarrhoea and what is its management?

A

Toddlers diarrhoea is a common condition affecting young children between ages 6 months-5 years. It is characterised by frequent watery stools in otherwise healthy children.

Ms- lifestyle advice
- limiting the intake of sugar containing fluids and juices
- encouraging well balanced diet
Avoiding excessive intake of foods rich in sorbitol or fructose such as certain fruits and beverages

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80
Q

What is the first line laxative -described to children?

A

Movicol

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81
Q

What is the tx of treating an acute attack of abdominal migraine?

A

Low stimulus environment
Paracetamol
Ibuprofen
Sumitriptan

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82
Q

What is the prophylactic medication for abdominal migraines?

A

Pizotifen- needs to be withdrawn slowly
Propranolol
Cyrophetadine
Flunarizine

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83
Q

What is sandifer’s syndrome?

A

A rare condition causing brief episodes of abnormal movements associated with GOR in infants + torticolis (forceful contraction of neck muscles) and dystonia (rabnormal muscle contractions causing arching of back).

Condition tends to resolve as the reflux improves

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84
Q

List 5 causes of GOR in children?

A

Obesity
Neurological Disorder e.g. cp
Hiatal hernia
Exposure to smoke
Overfeeding

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85
Q

What is the mx of GOR/D?

A

1st line- reassure parents and offer advice
Small frequent meals, burping regularly, not over feeding, keeping baby upright after feeding

In more problematic cases
Thickened milk formula
Gravis on mixed with feeds
PPIs
Surgical fundopliction

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86
Q

What is the mx of gastroenteritis?

A

Immediately isolate patient to prevent spread
Children need to stay out of school for 48 hours after Sx hab]ve resolved
Conservatives mx
Antibiotics only in severe cases
Food poisoning is a notifiable disease

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87
Q

What is the triad of haemolytic uraemia syndrome?

A

Microangiopathic hameolytic anaemia
Thrombocytopenia
AKI

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88
Q

What is the main culprit in coeliacs disease?

A

Gliadin

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89
Q

List 5 Sx of coeliacs?

A

FTT
Steatorrhora
Abdominal pain
Diarrhoea
Short stature
Dermatitis herpetiformis~
Fatigue
Weight loss

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90
Q

What is the 1st line and gold standard Ix in coeliacs disease?

A

1st line- anti IgA-tTG antibodies, anti endometrial antibody, IgA-tTG levels

Gs-OGD- duodenal or jejunal biopsy (crypt hypertrophy, villous atrophy and intra epithelial lymphocytes

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91
Q

What genetic association is associated with coeliacs?

A

HLA-DQ2

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92
Q

What other congenital defect is a neonate with hypospadias at an increased risk of having?

A

Cryptoprchidism

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93
Q

What is crohns disease and list the 1st line and GS ix?

A

an IBD characterised by transmural inflammation of Gi tract

1st line- Faecal calprotectin
GS- OGD and colonscopy with biopsy

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94
Q

List the findings of endoscopy and histology in crohns?

A

Endoscopy: Deep ulcers +/- fistulae, skip lesions (‘cobblestone appearance’)

Biopsy- transmural inflammation, increased goblet cells, granuloma

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95
Q

what is the mx of crohns (acute and remission)

A

acute- 1st line- monotheraphy with glucocorticoids e.g. prednisolone

remission
1st line- azathioproine or mercaptopurine
2nd line- Methorexate, infliximab

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96
Q

What are the findings of UC on histology and colonscopy

A

colonscopy- continuous inflammation, loss of haustral markings, pseudopolyps

biopsy- loss of goblet cells, crypt abscess, inflammatory cells (lymphocytes)

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97
Q

What is the criteia used to assess severity in UC

A

Truelove and Witt’s criteria

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98
Q

what is the tx of UC (acute and remisison)

A

acute:
1st line- topical/oral ASA e.g. mesalazine
2nd line- corticosteroids

remission
Aminosalicylate
azathioprine
mercaptopurine

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99
Q

is smoking damaging or protective in UC and crohns?

A

UC- smoking is protective

crohns- smoking is a RF

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100
Q

What condition is linked to UC?

A

Primary sclerosing cholangitis

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101
Q

lIst 2 signs of appendicitis?

A

Rovsings sign- palpation of Left illiac fossa cause pain in the RIF
Rebound tenderness and percussion tenderness (suggetsive of ruptured appendix)

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102
Q

what is the electrolyte findings in pyloric stenosis?

A

Hypochloraemic, hypokalemic metabolic alkalosis

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103
Q

What is pyloric stenosis and list the GS Ix and mx?

A

Pyloric stenosis is a condition resulting from the hypertrophy of the pyloric sphincter

Gs Ix- Abdominal USS

Mx- Laparoscopic Ramstedt’s Pyloromyotomy

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104
Q

List 3 RF of Pyloric stenosis?

A

first born Male infant (6- 8 weeeks)
Prematurity
Fhx of pylorioc stenosis
Exposure to prostaglandins/erythromycin/macrolides

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105
Q

What is biliary atresia and list 5 sx

A

Biliary atresia is a rare consition where the bile ducts of an infant are progressively fibrosed and destroyed leading to conjugated hyperbillirubinaemia, liver failure and death

Neonatal jaundice (Extending beyond physiological 2 weeks)
Chalky white stools
FTT
Brusiisng
Hepatosplenomegaly

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106
Q

What is the 1st line and GS ix of biliary atresia?

A

1st line- Deranged LFTS (Raised conjugated billirubin)

gs- Cholanhgiography

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107
Q

What is the main complication of untreated jaundice in babies and list 5 sx?

A

Kernicterus- excess billurubin damaging the brain esp the basal ganglia

Abnormal muscle tone
Poor feeding
Lethargic
Seizures
Arching of back nad neck
High pitched crying

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108
Q

What is CMPA?

A

A type 1 hypersensitivity reaction to the protiens found in cow’s milk and typically presents in the first 3 months of life in formula fed infants

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109
Q

What are two main types of protein in cows milk that are responsible for causing an allergic reaction in CMPAs?

A

1) Casein- primary protien in cow’s milk
2) Whey (20%)

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110
Q

List 5 sx of CMPAs?

A

Regurgitation and vomiting
Diarrhoea
Urticaria
atopic eczema
colic sx- irritability, crying
Wheeze
chronic cough
FTT

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111
Q

What is the mx of CMPA?

A

1st line- Extensive Hydrolysed Formula (eHF milk)
2nd line- Amino acid formula (AAF)

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112
Q

What is kwashiorkor and list 5 sx?

A

kwashiorkor is a disease marked by severe protein malnutrition and bilateral extremity swelling

sx
bilateral pitting oedema
Hair discolouration
Dermatosis/ulceration
Malnutrition
Protuding belly
hepatomegaly
lethargic

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113
Q

What other condtions is strongly linked with Hirschprungs?

A

Neurofibramatosis
Downs syndrome
Waardenburg syndrome (pale blue eyes, hearing loss, patches of white skin and hair)
MEN II

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114
Q

What is contraindicated in patients w/ intussusception?

A

Rotavirus

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115
Q

What is Meckel’s diverticulum?

A

A congenital diverticulum of the small intetsine, it is a remenant of the omphalomesenteric duct

116
Q

what si the rule of 2s in meckels?

A

occurs in 2% of the population
it is 2 inches long
2 feet away from the ileocaecal valve

117
Q

what is the features of nephrotic syndrome

A

Proteinuria (>3.5g/day)
Odema
Hypoalbuminaemia
(hyperlipidaemia)

118
Q

what is minimal change disease, and list the appropriate mx?

A

Minimal change disease is the msot common form of nephrotic syndrome in childeren (characteriwsed by heavy proteinuria, oedema and hypoalbuminaemia)

mx- 1st line- corticosteroid theraphy + fluid restriction, low salt intake

119
Q

what are the results of the renal biopsy in someone with minimal change disease?

A

Normal glomeruli on light microscopy
elctron microspoy will show fusion of podocytes and effacemnt of foot processes

120
Q

what are the characteristics of nephritic syndrome?

A

Hameaturia
Oliguria
Proteinuria (<3g/day)
Fluid retention–> HTN

121
Q

wlsit 5 causes of nephritic syndrome?

A

SLE
HSP
Anti- glomerular basement membrane (Goodpastures)
Post strep glomerulonephritis
Iga nephropathy (aka bergers disease)
Alports syndroem

122
Q

how to do you diferentiate between PSGN and IgA nephropathy

A

IgA nephropathy- develops 1-2 days after URTI, occurs in young males, macroscopic haematuria. #9bipsy- IgA mesangial cells deposition)

PSGN-develops 1-2 weeks after urti, proteinuria

123
Q

what are the finidngs in DKA?

A

glucose >11.0 mmol/L
Ph <7.3
Bicarb <15 mmol/L
Ketones > 3mmol

124
Q

What are the key features in PKD?

A

Renal cysts
headaches
htn
abdo/flank pain
haematuria

125
Q

What rx can be given to slow down the progressive nature of PKD?

A

Tolvaptan

126
Q
A
127
Q

Whta is the difference between ADPKD and ARPKD?

A

ADPKD- most common. More severe form and early onset.

ARPKD- aka infantile PKD. can cause oligohydramnios–> Potters seqiuence (renal agenesisn+ pulmonary hypoplasia)

128
Q

What drugs should be stopped in AKI as it may worsen renal function?

A

NSAIDs
Aminoglycosides
ACE I
Angiotensis II Receptor Blockers
Diuretics

129
Q

List 2 causes of testicular torison and list 3 sx?

A

causes- bell clapper deformity, trauma via sports

sx- absent cremasteric reflex, no pain relied when scrotum elevated, tetsicualr pain, high riding testicle

130
Q

What is a hydrocele and list 3 sx?

A

a collection of fluid between the layers of the membrane (tunical vaginalis) that surrounds the testis or along the spermatic cord

sx- transilluminated , tetsicle palpable within hydrocele, soft and fluctuant, enlargement of scrotal mass following activity

131
Q

What is hypospadias?

A

where the urethral meatus is abnormally dispalced to the ventral side of the penis

132
Q

What is phimosis?

A

in which the foreskin of the penis is tight or constricted making it difficult/impossible to retract over head of penis (normal in kids under 3 and generally resolves on its own)

133
Q

List 3 primary causes of nocturnal enuresis?

A

Overactive bladder
High fluid intake
Psychological distress

134
Q

List 3 secondary causes of nocturnal enuresis?

A

T1DM
UTIs
Constipation
Maltreatment

135
Q

What is CAH

A

An autosomal recessive disease whcih casues defect in the synthesis of steroid hormone 21 hydroxylase enzyme in the adrenal cortex

136
Q

Expalain the pathophysiology of CAH

A

21 hydroxylase enzyme converts progesterone into aldosterone and cortisol.

progetserone is also converted into testosterone however this is not reliant on 21 hydroxylse enzyme

in CAH due to there being no/little 21 hydroxylase enyme no/little aldosterone or cortisol is prooduced so the excess progesterone gets converted into testosterone

:. HIGH TESTOSTERONE, LOW ALDOSTERONE AND LOW CORTISOL

137
Q

Explain the CRH/ACTH hormone axis

A

HYpothalamus releases CRH which acts on the anterior pituitary. AP relaeases ACTH this acts on the adrenal glands.

in the adrenal glands cortex
Z. Glomerulosa – Mineralocorticoids (aldosetrone)
Z. Fasicualta – Glucocorticoids (Cortisol)
Z. Reticularis – Androgens (DHEA)

138
Q

What blood gas abnormalities is seen in severe CAH and whats its mx?

A

Hyponatraemia, Hypoglycaemia, Hyperkalaemia

mx- IV slaine + hydrocortisone

139
Q

What IX are done for CAH

A

Hormone testing
ACTH simulation tets will confirm diagnosis

140
Q

What is the mx of CAH?

A

Lifelong Fludrocortisone and hydrocortisone tx

141
Q

What sx would a baby with severe CAH display

A

Poor feeding
vomiting
dehydration
arrythmia
ambiguous genitalia

142
Q

In children with eczema, what areas are commonly affected in
a) Infants
b) Younger children
c) older children

A

a) face and trunk
b) extensor surfaces
c) flexor surfaces and creases of neck and face

143
Q

What is the difference between SJS and Toxic epidermal necrolysis (TEN)?

A

SJS affects <10% of body surface whereas TEN is defiened as >30% of skin involvement

144
Q

List the causative agent and school exclusion rules for the following rashes:
a) Chickenpox
b) Measles
c) Hand Foot and Mouth
d) Scarlet Fever
e) Rubella
f) Slapped cheek
g) Roseola Infantum
h) Impetigo

A

a) VZV (HHV3)- exclude until all lesions crusted over (typically 5 days after rash onset)

b) Measles virus- 4 days from onset of rash

c) Cocksackie A16- no exclusion

d) Group A strep- 24 hours after first dose of Abx

e) Rubella virus- 5 days after onset of rash

f) Parvovirus B19- No exclusion

g) HHV6- No exclusion

h) Staph aureus- until leisons crusted or 48 hours after ABx

145
Q

What are the 4 rx that are given in the tretament of TB and list its corresponding SE?

A

Rifampicin- Red/orange urne
Isoniazid- Peripheral neuropathy
Pyrazinamide- Hepatitis/gout
Ethambutol- Optic neuritis

146
Q

What medication is co-prescribed with isoniazid to prevent peripherla neuropathy?

A

Pyrodixine (vitamin B6)

147
Q

List the findings of TB on a CXR?

A

Upper lobe cavitation
Bilateral hilar lymphadenopathy

148
Q

What is the gold standard ix for a diagnois aof active TB?

A

Sputum culture

149
Q

What is the tx of meningiocal septicaemia in children
a) <3 months
b) >3 months

A

a) IV amoxicillin + IV cefotaxime

b) IV cefotaxime/ceftriaxone

150
Q

List the red flag features in the NICE traffic light system for fevers in children <5 years?

A

Pale/Mottled
Grunting
RR >60
Moderate or severe chest indrawing
Reduced Skin turgor
Fever >38 in age<3months
Looks ill to helath professional

151
Q

list the rf for DDH

A

Female sex
Positive FHx
Breech
Oligohydramnios
Firstborn child

152
Q

What is the inheritance patetrn of haemophillia A

A

X linked Recesisve (only affects males)

153
Q

When should a child with hypospadias be treated?

A

Age 12 months

154
Q

How may a older child with DDH present?

A

+VE trendelenburg sign
leg length discrepancy

155
Q

What si the triad associated with congenital rubella syndrome

A

Deafness
blindness
chd

156
Q

What is the tx for SUFE?

A

Surgery- internal fixation: typically a single cannulated screw placed in the centre of the epiphysis

157
Q

What is the triad of fetures in shaken baby?

A

retinal haemorrhages
Subdural haematoma
encephalopathy

158
Q

Describe the mx of neonatal hypoglycaemia

A

neonatal hypoglycaemia <2.6 mmol/L

if baby asyptomatic > Encourage feeds and monitor

if baby symptomatic > admit to NICU and give 10% dextrose

159
Q

WHat heart defect is associated with fragile X

A

mitral valve prolapse

160
Q

What is the most likely cause of worsening neurological function in a preemie?

A

Intraventricular haemorrhage

161
Q

What kind of lymphadenopathy is associated in rubella infection?

A

Postauricular and suboccipital

162
Q

Billous vomitting + double bubble sign on X-ray?

A

Duodenal atresia

163
Q

What is the potential consequencedoes having parvovirus B19 during preganancy cause the foetus?

A

Hydrops Foetalis

164
Q

What is reflex anoxic seizures?

A

Occurs when child is startled, causes child to go to plae, lose conciousness and may have musvle twitching. WIthin 30 secs heart retstarts and child becomes concious again

165
Q

list 3 differences between syncope and seizures?

A

syncope-
prodrome includes lightheadedness, sweating blurring of vision
Return of conciousness shortly after
no prolonged post-itcal period

seizures
prodromes include aura, dejavu, jacksonian march etc
can last upto 5 mins or more
Prolonged post itcal period

166
Q

What is Cerebral palsy?

A

a disorder of movement and posture sdue to non progressive lesions of the motor pathways in the developing brain

167
Q

List 5 causes of CP

A

Congenital malformations
Maternal infections (CMV, Rubella, Toxi
Birth asphyxia
Meningitis
Head trauma
Intraventricular haemorrhgaes

167
Q

What is the fkey finding in spastic CP, and where is the lesion?

A

Hypertonia
Leison- UMN periventricular white matter

168
Q

What is the fkey finding/s in dyskinetic CP, and where is the lesion?

A

Athethoid movement (slow writhing movements in distal extremeties)
lesion- Basal ganglia and substantia nigra

169
Q

What is the fkey finding/s in ataxic CP, and where is the lesion?

A

cerebellar signs (DANISH)
Lesion- Cerebellum

170
Q

What is the mainstay ix in CP

A

MRI Head

171
Q

What are the non-motor problems associated with CP

A

Learning difficulties
Hearing problems
Squints
Epilepsy

172
Q

What inheritance pattern is DMD or BMD?

A

X linked recessive

173
Q

What is the 1st line and GS ix in DMD?

A

1ST LINE- Serum Creatne kinase levels- elevated

GS- Gentic analysis

174
Q

List 3 signs of DMD in a child

A

waddling gait
pseudohypertrophy of calfs
Gowers sign- hand on knees to get up

175
Q

What is the gs Ix and mx of orbital cellulitis?

A

GS- CT sinus and orbit with contrast
Admit to hospital for IV antibiotics

176
Q

List causes of Microcytic anaemia

A

Thalasseaemia
Anaemia of chronic disease
IDA
Lead poisoning
Siderolastic aneamia

177
Q

List the casues of normocytic anaemia

A

Anaemia of chronic disease
Aplastic anaemia
Acute blood loss
Haemolytic
Hypothyroidism

178
Q

List the causes of macrocytic anaemia

A

Megaloblastic- B12 deficiency, Folate deficiency

Normoblastic- Liver disease, Alcohol, Hypothyroidism, Reticulocytotic, Drugs like azathioprine

179
Q

List the common causes of anemia in infnacy?

A

Physiological anaemia of infancy (MC)
Anameia of rpematurity
Blood loss
Haemolysis (Haemolytic disease of newborn, Heriditary spherocytosis, G6PD deficiency)
Twin-twin trnasfusion

180
Q

List 5 physical fetures of Downs syndrome?

A

PROBLEMS
Palpebral fissures
Round face
Occipital and nasal flattening
Brushfield spots/Bradycephaly
Low set ears
Epicanthic folds
Mouth open + Protuding tongue
Strabismus/Sandal gap deformity/Single palmar crease

181
Q

What is fanconi’s anaemia?

A

an autosomal recessive disorder that involves all three blood cell lines. It is the most common cause of inherited bone marrow failure characterised by pancytopenia.

182
Q

What is the findings of G6PD in a blood smear?

A

Heinz bodies and bite cells

182
Q

What is the mode of inheritance and genetic muttaion in sickle cell disease?

A

Autosomal recessive

valine replaced glutamic acid on chr 11

183
Q

List the features of fanconi anaemia?

A

Bone marow failure (Anaemia, Thrombocytopaenia, neutropaenia)
Short stature
Malformed thumbs and forearms
skin pigmentation
Hearing defects

184
Q

What is the mode of inheritnace of G6PD?

A

X linked recessive
(low levels of G6PD – low levels of NADPH = Low levels of Glutathione rectase)

185
Q

What is the management of ITP

A

asymtomatic- often recovers on its own

active bleeding- depends on platelet count
<30,000- Corticosteroids and IVIG
<10,000- Plasma exchange

186
Q

What is the prothrombin time and APTT results in VWDs?

A

Prothrombin- normal
APTT- Prolonged

187
Q

What is the mx of VWDs-

A

Vasopressin analogue- DDAVP

188
Q

What is the mode of inheritance in Haemophillia and what factor is deficient in
a) Haemophillia A
b) Haemophillia B
c) what is the PT and APTT time

A

X linked recessive

a) Factor 8
b) Factor 9
c) PT- normal
APTT- Prolonged

189
Q

What is Acute Lymhoid leukaemia?

A

Clonal expansion of lymphoblasts in bone marrow, peripheral blood and extramedullary tissue

190
Q

What is the most common brain tumour in children?

A

Astrocytoma

191
Q

What histology finding can be seen in an asytrocytoma

A

Rosnethal fibres (corkscrew eosinophillic bundles)

192
Q

What are the features of a nephroblastoma/wilms tumour?

A

Abdominal mass
Painless haematuria
Flank pain
Fever

193
Q

What other condition is wilms tumour associated with?

A

Beckwith-Wiedemann syndrome

194
Q

What is the GS ix for wilms tumour

A

Renal biopsy- small round blue cells may be seen on histology (not exclusive)

195
Q

Where does a neuroblastoma arise from?

A

The tumour arises from neural crest tissue of the adrenal medulla (the most common site) and sympathetic nervous system.

196
Q

What ix are done for a neuroblastoma?

A

raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels

calcification may be seen on abdominal xray

biopsy

197
Q

What is the mode of inheritance and gene affected in a retinoblastoma?

A

MOI- Autosomal Dominant
Gene affected- RB1 on Chr 13

198
Q

What are the features of retinoblastoma

A

Absence of red reflex- replaced by a white pupil (Leukocoria)
strabismus
Visual problems

199
Q

What is the most common malignant childhood bone tumour?

A

Osteosarcoma

200
Q

What are the following reuslts for ewings sarcoma
a) Bloods
b) Imaging
c) Bones it affects

A

a) Raised WCC, ESR, LDH. Low Hb
b) Onion skin appearance
c) Pelvis and long bones

201
Q

What are the following reuslts for osteosarcoma
a) Bloods
b) Imaging
c) Bones it affects

A

a) May show raised ALP
b) Sunburst appearnce
c) Metaphyseal region of long bones

202
Q

What is the most common benign bone tumour in children?

A

Osteochondroma

203
Q

What is the newborn hearnig test test?

A

Otoacoustic emission test

204
Q

What test shoukld be done if the otoacoustic emisiion test is abnormal?

A

Auditory Brainstem Repsonse test

205
Q

In childeren who present with otitis media, what criteria should be met in order to prescribe immediate abx?

A

Sx more than 4 days or have not imporved
Systematically unwell
Immunocompromised
<2y with bilateral OM
Perforation +/or discharge

206
Q

what abx are given for OM?

A

Amoxicillin 5-7 days

207
Q

List 3 complications of OM?

A

Meningitis
Brain Abcess
Facial N palsy

208
Q

What abx are prescribed in an upper UTI?

A

3rd gen cephalosporins e.g. cefalexin/co-amoxicalv

209
Q

What abx are prescribed in an lower UTI?

A

trimethoprim/nitrofurantoin 3days

210
Q

What additional ix should be done for kids <6 months who have presented witha uti?

A

USS within 6 weeks

211
Q

What are the sx of an atypical UTI?

A

Poor urine flow
Abdo/bladder mass
Raised creatinine
Septicaemia
Failure to respond to abx within 48 hours

212
Q

What is the modified centor criteria?

A

Age3-14 years
Fever >38
Absence of cough
Tonsillar exudates
Cervical lymphadenopathy

213
Q

What is the FeverPAIN criteria

A

Fever in the last 24 hour
Pus on tonsils
Attend rpaidly (within 3 days or less)
Severly inflammed tonsils
No cough or coryza

214
Q

List 5 complications of Down’s syndrome

A

AVSD**, VSD, ASD, ToF
Glue ear
Myopia
Hypothyroidism
Atlantoaxial instability
ALL
Alzheimer’s dementia
Subfertility
LD

215
Q

List the mutation in fragile X

A

Trinucleotide CGG repeat on FMR1 gene (X linked recessive)

216
Q

List features of Prader-willi syndrome and the defect?

A

Paternal deletion of chr 15

Insatiable hunger
Severe hypotonia
LD
Dysmorphic fetaures

217
Q

List features of angelman syndrome and deletion?

A

Maternal deletion on Chr 15

Happy demeanour
Fascination with water
WWidely spaced teeth

218
Q

The mutation and features of williams syndrome?

A

Microdeletion on Chr 7

Elfin like facies
Very friendly and scoaible
Starburst eyes
Supravalvular aortic stenosis
Wide mouth and widely spaced teeth

219
Q

List features of noonan syndrome?

A

AD

Webebd neck
Pectus excavatum
Short
Pulmonary stenosis

220
Q

List the features and mx of HSP?

A

IgA mediated small vessel vasculitis

Purpuric rash, classiclaly over buttocks and limb extensor surfaces
Abdo pain
Polyarthritis
Nephritic syndrome- Haematuria, Renal failure/AKI

Tx- Analgesia, Self limiting, monitor renal function and BP

221
Q

When should a refferal for the following be made?
a- Unilateral undescended testes
b- Bilateral undescended testes

A

a- refer by 3 months if still undescended

b- should be reviewed within 24 hours by senior paediatrician

222
Q

What hearing test should be conducted in
a- Newborn
b- Failed newborn test
c- <4 yrs
d- >4yrs

A

a- otoacoustic emission test
b- Brainstem auditory repsonse test
c- Distraction test
d- Pure tone audiometry

223
Q

Choice of Ix in Cerebral palsy?

A

MRI Brain

224
Q

List the features of simple and complex febril convulsions?

A

Simple
- <15 minutes
- Generalised seizure

Complex
- 15-30 minutes
- Focal Seizure

225
Q

How should urine culture sample be procured in kids with UTI?

A

Clean catch
if not possible use urine collection pad

226
Q

List 2 antenatal perinatal and postnatal causes of CP?

A

Antenatal- Maternal infections, HIE, Trauma during preganncy

Perinatal- Birth aphsyixa, Preterm

Postnatal- Mneingitis, Head trauma, Kernicterus

227
Q

WHat is the pathanomic rash associated with pityriasis roseola?

A

HHV6/7

Coin sized herald patch –> Rash
(Cristhmas tree pattern)

228
Q

How can you prevent NEC in preemies?

A

Encopurage breastfeeding
Delayed cord clamping

229
Q

List the Mx of NEC?

A

Nil by mouth + NGT for decompression
Broad spectrum Abx
TPN, IV Fluids
Laparotomy

230
Q

List sx of
a) ealry onset GBS
b) Late onset GBS

A

a) < 7 days- poor feeding, alethargy, Fever, resp distress, sepsis

b) >7 days- meningitis signs

231
Q

Port wine stains are associated with what condition?

A

Sturge weber syndrome (increases risk of gluacoma and seizures)

232
Q

WHen is the heel prick test doen and list 3 conditions tested?

A

Day 5-8
Tests for 9 conditions (MCADD, CF, Congenital Hypothyroidism, Phenylketonuria, Sickle cell)

233
Q

List what ix may be doen in JIA?

A

ANAs (O)
RF (P)
ESR/CRP (increased)

234
Q

List a complcitaion of JIA?

A

Anterior uveitis

235
Q

What babaies are screened for DDH?

A

All babies breech at 36 weeks
Multi-pregnancy
1st degree raltaive with hip problems

236
Q

What staging is used in perthes disease?

A

Cattheral staging

237
Q

WHat criteria is used to diagnose septic arthritis and list?

A

KOCHER Criteria
Fevr >38
Raised ESR
Raised WCC
Non weight bearing

238
Q

List 3 signs of IDA?

A

Atrophic glossitis
Angular stomatis
Kolinychia

239
Q

What condition has to be ruled out in miniamal change disease?

A

Peri- Orbital cellulitis

240
Q

List the signs of mastoiditis?

A

Protuding ear
Erythema behind ear

Urgent refferal to paediatrics and IV Abx

241
Q

what is quinsy?

A

A rare complication of tonsilllitis. Peritonsillar abscess (HOT POTATO voice)

242
Q

WHta chemo regime is used in Hodgkins lymphoma?

A

ABVD Chemo

Adriamycin (doxorubicin):
Bleomycin:
Vinblastine:
Dacarbazine

243
Q

WHta chemo regime is used in non-Hodgkins lymphoma?

A

R-CHOP

Rituximab (R):
Cyclophosphamide (C):
Doxorubicin (H):
Vincristine (O):
Prednisone (P):

244
Q

What prophylaxis abx is given to close contact in acute epiglottitis?

A

Rifampicin

245
Q

What is the fluid calculation for a bolus?

A

10-20ml/Kg
0.9 % NaCl

246
Q

What is infantile colic?

A

Unconsollable crying in an otherwise helathy baby usually resolves by 5 months

247
Q

What procedures are done for the following?
a) Billiary Atresia
b) Pyloric Stenosis
c) Hirschprung’s Disease
d) Malrotation
e) Volvulus

A

a) Kasai Procedure
b) Ramsteds Pyloromyotomy
c) Swensons Procedure
d) Laparotomy
e) Ladd’s Procedure

248
Q

What is Hirschprungs Disease?

A

Absence of parasympathetic ganglionic cells of the myenteric plexus in the distal bowel and rectum thus leading to lack of peristalsis and obstruction

249
Q

What is Intussusception and most common site?

A

Telescoping of proximal bowel into distal segment

Ileocaecal valve

250
Q

What conditions is intussusception associated with?

A

CF
Meckels

251
Q

WHat is the xray findings in TGA?

A

Egg on a string heart (Narrowed mediastinum and cardiomegaly)

252
Q

List the RF of TGA and TOF?

A

Congenital Rubella
Older maternal age
Maternal diabetes
Alcohol in pregnancy

253
Q

List the CKD stages?

A

stage 1- >90
stage 2- 60-89
stage 3a- 45-59
stage 3b- 30-44
satge 4- 15-29
stage 5- <15

254
Q

Cyanosis in the first 24 hours is indicative of what heard defect?

A

TGA

255
Q

Within how many hours/days should a child with an acute exacerbation of asthma be folowed up with GP and list 3 points thats shoudl be discussed?

A

WIthin 48 hours

Review sx and check PEF
Chec inhaler technique
Consider stepping up tx
Address potentail triggers
Advice on recognisisng an asthma attack

256
Q

The aim of asthma management is control of the disease. Complete control is defined as what?

A

No daytime symptoms.
No night-time waking due to asthma.
No need for rescue medication.
No asthma attacks.
No limitations on activity including exercise.
Normal lung function (FEV1 and/or PEF > 80% predicted or best).

257
Q

When is the APGAR score assessed and what does it include?

A

Assessed at 1 minute and 5 minutes after birth

Assesses
Appearance and colour
Respiratory efforts
Pulse
Grimace/Reflex irritability
Activity/Muscle tone

258
Q

An absent corenal reflex during NIPE can be indicative of what?

A

Retinoblastoma
Congenital catarats
Vitreous haemorrhage
Retinal detachment

259
Q

Whjat dietary advice would ypu gove to someone with CF?

A

Ensure a high caloric high fat diet with pancreatic enzyme supplements with every meal

260
Q

List the electrolyte abnormlaity associated with CAH?

A

Hyponatraemia
Hyperkalaemia
Hypoglycaemia
Metabolic acidosis

261
Q

What si the inheritance patetrn oF CAH?

A

aUTOSOMAL RECESSIVE

262
Q

IF Juvenile myoclonic epeilepsy is left untreated what condition can it progress to?

A

Generalsied Tonic clonic seizures

263
Q

How often should kids on ritalin be minitored?

A

every 6 months

264
Q

List 4 tests that could be done in DMD patients ?

A

Cretinine kinase level
Muscle biopsy
Genetic analysis
EMG

265
Q

at what point in time does physiological jaundice
typicall recover in a preterma and term baby

A

preterm- within 21 days
term- within 14 days

266
Q

List 3 types of causes for
a) Pathalogical jaundice
b) Physiological jaundice
c) Prolonged

A

a) Sepsis, Haemolytic disorders (ABO incompatibility, G6PD, H.Spherocytosis), Congenital TORCH infections

b) Breast milk, Dehydration, Polycythemia, Crigler Najjar

c) Biliary atresia, Nenoatal hepatitis, Hypothyroidism

267
Q

WHta are the 2 tx options for jaundice in neonates?

A

Phototherapy
Exchange transfusion

268
Q

Give 3 RF that may contribute to recurrent ear infcetions in kids?

A

Genetic predisposition
Age 6m-2Y
cleft palate
allergies
Resp infections

269
Q

Expalin the importance of midle ear ventilation in kids

A

Middle ear ventilation is crucial for equalising pressure, preventing fluid buildup, and
maintaining optimal hearing.

In conditions like OME, impaired ventilation leads to
persistent fluid accumulation, impacting hearing function.

270
Q

Noonan syndrome is asscoaite with what 2 types of cancer?

A

Leukaemia
Neuroblastoma

271
Q

WHta is toddlers fravture?

A

Spiral fracture of the tibia

272
Q

what is the mx in the following cases
a) boy 2 month old with UTI
b) girl 4 months old with lower UTI
C) girl 8 months with upper UTI

A

a) refer urgently to paeds (all kids below <3months) and IV coamoxicalv

b) Trimethoprim/Nitrofurnatoi for 3 dyas

c) Cefalaxin/Co-amoxiclav for 7-10 dyas

273
Q

Whe should an USS be arranged for kids with UTIs?

A

1- Children with atypical UTI
2- During infection if child <6 months for recurrent UTIs
3- within 6 weeks of all kids >6m with recurrent infections

274
Q

When should a DMSA scan be organised?

A
  1. all children udner 3 years with atypical/recurrent UTIs
  2. all childen 3y+ with recurrent UTIs
275
Q

List 3 causes of conductive and sensorineural HL?

A

conductive- Ear wax buidup, Otitis media with effusion, Eustachian tube defect (Downs, cleft palate etc)

SN- Acoustic neuroma, Meningitis, HIE, Rubella, Head injury

276
Q

List 5 signs of dehydration in children?

A

Sunken fontanelle
Reduced conciousness
Dry mucous membranes
CRT >2 seconds
Cold peripheries
Tachypnoea
Tachycardia
Reduces urine output

277
Q

What causes Toxic Shock syndrome and list sx?

A

Toxin producing GAS or staph aureus

Fever >39
Hypotension
Diffuse erythemous macular rash

278
Q

List 3 sx of mumps and 3 complications?

A

Caused by paroxymyovirus
Fever
Parotitis
Transient unilateral HL

comp- pancreatitis, orchiditis, encephalitis

279
Q

List 2 complictaions of eczema?

A

Cellulitis- cuased by staph auresu. Treat with oral Flucloxacillin

Eczema Herpeticum- caused by HSV. treat with aciclovir

280
Q

Give 2 genetic disorders that cause learning difficulties?

A

Fragile X
Downs

280
Q

List the fetaures of DIGeorge syndrome?

A

CATCH-22 (Autosomal Dominant)
Cardiac- TOF/Interupted aortic arch
Abnormal Facies
Thymic Aplasia
Cleft palate
Hypoparathyroidism, Hypocalcaemia -> Convulsions
- Micro deletion on chr 22

281
Q

List 3 deletion mutations?

A

DIgeorge
Williams
Cru de chat

282
Q

What is precocious puberty?

A

The development of secondary sexual characteristics in
- girls <8y
- boys <9y

283
Q

List 5 causes of stridor?

A

Laryngomalacia
Epiglottitis
Croup
Foreign body inhalation
Anaphylaxis

Phase 3A (HV) (10 decks)

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