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PAEDS Flashcards

2
Q

ATRIAL SEPTAL DEFECT
What signs would you find on clinical examination in ASD?

A
  • Fixed + widely split S2 (split does not change with inspiration/expiration)
  • ES murmur at upper L sternal edge (pulmonary) as increased flow across pulmonary valve by L>R shunt
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3
Q

PDA
What are the signs of PDA?

A
  • Collapsing or bounding pulse as increased pulse pressure
  • Continuous ‘machinery’ murmur heard loudest beneath the L clavicle
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4
Q

PDA
What is the management of PDA?

A
  • Monitor until 1y with ECHOs (treat early if Sx or heart failure)
  • NSAIDs (indomethacin) facilitates closure of PDA as inhibits prostaglandins
  • After 1y unlikely to resolve so trans-catheter or surgical closure to reduce IE risk
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5
Q

TOF
What abnormalities are described in tetralogy of fallot (TOF)?

A
  • Large VSD
  • Pulmonary stenosis (RV outflow obstruction)
  • RVH
  • Overriding aorta
    (If ASD present too = pentad of Fallot)
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6
Q

TGA
What are the investigations for TGA?

A
  • May be Dx antenatally, pre (R arm) + post duct (foot) sats
  • CXR may show narrow mediastinum with ‘egg on its side’ appearance
  • ECHO confirms Dx
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7
Q

COARCTATION OF AORTA
What is the clinical presentation of coarctation of aorta?
How may it present if severe?

A
  • Weak femoral pulses + radiofemoral delay
  • Systolic murmur between scapulas or below L clavicle
  • Heart failure, tachypnoea, poor feeding, floppy
  • LV heave (LVH)
  • Acute circulatory collapse at 2d as duct closes (duct dependent)
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8
Q

COARCTATION OF AORTA
What is the management of coarctation of aorta?

A
  • ABCDE if collapse
  • Prostaglandin E1 infusion if critical
  • Stent insertion or surgical repair
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9
Q

EBSTEIN’S ANOMALY
What is the clinical presentation of Ebstein’s anomaly?

A
  • Evidence of heart failure
  • SOB, tachypnoea, poor feeding, collapse or cardiac arrest
  • Gallop rhythm with S3 + S4
  • Cyanosis few days after birth if ASD when ductus arteriosus closes
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10
Q

EBSTEIN’S ANOMALY
What are the investigations for Ebstein’s anomaly?

A
  • ECG = arrhythmias, RA enlargement (P pulmonale), LAD + RBBB
  • CXR = cardiomegaly + RA enlargement
  • ECHO diagnostic
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11
Q

PULMONARY STENOSIS
What is the clinical presentation of pulmonary stenosis?

A
  • Ejection systolic murmur at upper left sternal edge with ejection click
  • ?RV heave due to RVH
  • Critical PS = duct-dependent pulmonary circulation so cyanosis in first few days of life
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12
Q

RHEUMATIC FEVER
How is rheumatic fever diagnosed?

A

Jones criteria –
- Evidence of recent strep infection plus 2 major or 1 major + 2 minor criteria

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13
Q

RHEUMATIC FEVER
What are the major criteria in rheumatic fever?

A

JONES –

  • Joint arthritis (migratory as affects different joints at different times)
  • Organ inflammation (pancarditis > pericardial friction rub)
  • Nodules (subcut over extensor surfaces)
  • Erythema marginatum rash (pink rings of varying sizes on torso + proximal limbs)
  • Sydenham chorea
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14
Q

RHEUMATIC FEVER
What are the minor criteria in rheumatic fever?

A

FEAR –

  • Fever
  • ECG changes (prolonged PR interval) without carditis
  • Arthralgia without arthritis
  • Raised CRP/ESR
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15
Q

HEART FAILURE
What are the causes of heart failure in infants?

A

High pulmonary blood flow (VSD, AVSD, large PDA)

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16
Q

TOF
What are some risk factors?

A
  • Rubella,
  • maternal age >40,
  • alcohol in pregnancy,
  • maternal DM
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17
Q

TRICUSPID ATRESIA
How is it managed?

A

Shunt between subclavian + pulmonary artery with surgery later

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18
Q

CROUP
What are the investigations for croup?

A
  • Clinical but if CXR done PA view shows subglottic narrowing (steeple sign)
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19
Q

ACUTE EPIGLOTTITIS
What is the management of epiglottitis?

A
  • Prevention HiB vaccine, rifampicin prophylaxis for close household contacts
  • Do NOT examine throat, anaethetist, paeds + ENT surgeon input
  • Intubation if severe, may need tracheostomy
  • IV ceftriaxone + dexamethasone given once airway secured
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20
Q

BRONCHIOLITIS
What are some criteria for admission?

A
  • Apnoea
  • Severe resp distress (RR>60, marked chest recession, grunting)
  • Central cyanosis
  • SpO2 < 92%
  • Dehydration
  • 50–75% usual intake
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21
Q

PNEUMONIA
What is the management of pneumonia?

A
  • Newborns = IV broad-spec Abx (amoxicillin)
  • Older = PO amoxicillin with broad-spectrum Abx (co-amoxiclav) if unresponsive or influenza
  • Macrolides (erythromycin) to cover for mycoplasma, chlamydia or if unresponsive
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22
Q

ASTHMA
What is the stepwise management of chronic asthma in <5y?

A
  1. SABA + low dose ICS (trial for 8-12 weeks)

IF SYMPTOMS RESOLVE
2. stop SABA + low dose ICS for 3 months
3. if symptoms recur restart SABA + low-dose ICS and titrate up to moderate dose ICS as needed
4. consider further trial without treatment
5. SABA + moderate dose ICS + LTRA
6 stop LTRA + refer to specialist

IF SYMPTOMS DO NOT RESOLVE
2. check inhaler adherence, review if alternative diagnosis is likely
3. refer to specialist

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23
Q

ASTHMA
What is the stepwise management of chronic asthma 5-12yrs?

A
  1. SABA + ICS
  2. decide whether MART pathway or conventional pathway is more suitable

MART PATHWAY
3. SABA + low dose MART
4. SABA + moderate dose MART
5. refer to specialist

CONVENTIONAL PATHWAY
3. SABA + ICS + LTRA (trial for 8-12 weeks)
4. SABA + low dose ICS/LABA (+/- LTRA)
5. SABA + moderate dose ICS/LABA (+/- LTRA)

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24
Q

CROUP
What are the causes?

A
  • Parainfluenza viruses (#1), less so RSV, metapneumovirus, influenza
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25
Q

CROUP
How do you assess croup severity?

A

Westley score for severity
(chest wall retractions, stridor, cyanosis, air entry + consciousness)

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26
Q

VIRAL INDUCED WHEEZE
What is the management?

A

1st line = PRN salbutamol
2nd line = Montelukast or ICS or both

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27
Q

PNEUMONIA
What are the common causes of pneumonia in infants + young children?

A

RSV most common,
pneumococcus #1 bacterial,
H. influenzae,
Bordatella pertussis,
chlamydia trachomatis

(S. aureus rarely but = serious)

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28
Q

ASTHMA
what is the management of mild-moderate exacerbations of asthma?

A
  • salbutamol inhaler via spacer - give 1 puff every 30-60 seconds upto maximum 10 puffs

if symptoms are not controlled, refer to hospital

  • oral prednisolone (for 3 days)
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29
Q

PYLORIC STENOSIS
What is the management of pyloric stenosis?

A

1st line
- nil-by-mouth and NG tube insertion (to decompress stomach)
- IV fluids (rehydration + correct electrolyte imbalances)
- ramstedt pyloromyotomy (laparoscopic)

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30
Q

MECKEL’S DIVERTICULUM
What are the investigations for Meckel’s diverticulum?

A
  • Technetium scan will demonstrate increased uptake by ectopic gastric mucosa
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31
Q

CONSTIPATION
What is the medical management of constipation?

A
  • 1st = MACROGOL (osmotic) laxative like polyethylene glycol + electrolytes (Movicol)
  • 2nd = stimulant laxative if no effect like Senna, bisocodyl ± osmotic laxative (lactulose) or stool softener (docusate) if hard stools
  • 3rd = consider enema ± sedation or specialist manual evacuation
  • Continue for several weeks after regular bowel habit then gradual dose reduction
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32
Q

GASTROENTERITIS
What are some complications of gastroenteritis?

A
  • Isonatraemic + hyponatraemic dehydration
  • Hypernatraemic dehydration
  • Post-infective lactose intolerance (remove lactose + slowly reintroduce)
  • Guillain-Barré
  • Dehydration #1 cause of death
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33
Q

BILIARY ATRESIA
What is the clinical presentation of biliary atresia?

A

SYMPTOMS
- prolonged jaundice >2 weeks
- pale stools
- dark urine
- irritability

SIGNS
- hepatomegaly
- scleral icterus
- failure to thrive
- abdominal distention
- signs of portal hypertension (if severe)

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34
Q

BILIARY ATRESIA
What is the management of biliary atresia?

A

1st line
- Kasai portoenterostomy
- ursodeoxycholic acid

2nd line
- liver transplant

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35
Q

NEONATAL HEPATITIS
What are 4 main causes of neonatal hepatitis?

A
  • Congenital infection
  • Alpha-1-antitrypsin (A1AT) deficiency
  • Galactosaemia
  • Wilson’s disease
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36
Q

FAILURE TO THRIVE
How does NICE define faltering growth in children by weight?

A
  • ≥1 centile spaces if birth weight was <9th centile
  • ≥2 centile spaces if birth weight was 9th–91st centile
  • ≥3 centile spaces if birth weight was >91st centile
  • Current weight is below 2nd centile for age, regardless of birth weight
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37
Q

CMPA
What are the investigations for cows milk protein allergy (CMPA)?

A
  • IgE mediated = skin prick tests + RAST for cow’s milk protein
  • Gold standard if doubt = elimination diet under dietician supervision
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38
Q

CMPA
What is the management for cows milk protein allergy (CMPA)?

A

FORMULA FED
- 1st line = extensive hydrolysed formula milk
- 2nd line = amino acid-based formula

BREASTFED
- continue breastfeeding
- eliminate cows milk protein from maternal diet. (consider prescribing calcium supplements to mother)
- use extensively hydrolysed milk when breastfeeding stops, until 12 months of age and at least for 6 months

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39
Q

CHOLEDOCHAL CYST
How may it present?

A
  • Cholestatic jaundice
  • abdominal mass
  • pain in RUQ
  • nausea and vomiting
  • fever
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40
Q

GASTROENTERITIS
what is the management for shigella infection?

A

severe = azithromycin or ciprofloxacin

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41
Q

BILIARY ATRESIA
What genetic mutation is biliary atresia associated with?

A

Associated with CFC1 gene mutations

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42
Q

NEONATAL HEPATITIS
What is the cause of A1AT deficiency?

A

AR on chromosome 14

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43
Q

NEONATAL HEPATITIS
What are the genetics for Wilson’s disease?

A

AR on chromosome 13

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44
Q

GASTROENTERITIS
How is hypernatraemic dehydration managed?

A

Slow rehydration over 48h

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45
Q

INTUSSUSSEPTION
what are the risk factors?

A
  • young children
  • male gender
  • preceding viral illness
  • henoch-schonlein purpura (HSP)
  • meckel’s diverticulum
  • lymphoma
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46
Q

HSP
What is the clinical presentation of HSP?

A

SYMPTOMS
- joint pain
- abdominal pain
- bloody stools
- haematuria

SIGNS
- palpable purpuric rash (typically on legs)
- joint swelling
- joint tenderness

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47
Q

HSP
What is the management of HSP?

A

1st line:
- supportive care (rest, hydration + monitoring for complications
- NSAIDs (for pain relief + joint symptoms, use with caution in renal injury)

2nd line
- corticosteroids
- immunosuppressive agents (AZATHIOPRINE or CYCLOPHOSPHAMIDE)

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48
Q

HAEMOLYTIC URAEMIC SYNDROME
What is haemolytic uraemic syndrome (HUS)?

A
  • Thrombosis within small blood vessels throughout the body, usually triggered by a bacterial toxin (shiga)
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49
Q

HAEMOLYTIC URAEMIC SYNDROME
What is the classic HUS triad?

A
  • Microangiopathic haemolytic anaemia (due to RBC destruction)
  • AKI (kidneys fail to excrete waste products like urea)
  • Thrombocytopenia
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50
Q

HAEMOLYTIC URAEMIC SYNDROME
What is the clinical presentation of HUS?

A

SYMPTOMS
- bloody diarrhoea
- fever
- abdominal pain
- vomiting
- reduced urine output

SIGNS
- dehydrated (delayed CRT, tachycardic/hypotensive, mottled skin)
- pyrexia
- pallor

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51
Q

HAEMOLYTIC URAEMIC SYNDROME
What are some investigations for HUS?

A
  • FBC = anaemia, thrombocytopaenia
  • blood film = schistocytes due to microangiopathic haemolysis
  • LDH = raised
  • LFTs = raised bilirubin
  • urinalysis = microscopic haematuria + proteinuria
  • U&Es = raised creatinine + reduced eGFR, often hyperkalaemia
  • stool culture = e.coli 0157:H7
  • PCR shiga toxin
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52
Q

HAEMOLYTIC URAEMIC SYNDROME
What is the management of HUS?

A

SUPPORTIVE
- IV fluids
- red cell transfusion
- dialysis (if refractory acidosis, hyperkalaemia, fluid overload or oliguria)

2ND LINE
- antibiotics (only in non-e.coli HUS)
- plasma exchange
- eculizimab

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53
Q

UTI
In terms of performing ultrasounds scans in UTI, what are the guidelines?

A
  • USS within 6w if 1st UTI + <6m but responds well to Tx within 48h or during illness if recurrent or atypical bacteria
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54
Q

UTI
What is the management of UTI for >3m with upper UTI?

A

?Admission for IV, if not PO co-amoxiclav or cefalexin for 7–10d

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55
Q

UT ABNORMALITIES
Name 6 urinary tract abnormalities

A
  • Renal agenesis
  • Multicystic dysplastic kidney
  • Polycystic kidney disease
  • Pelvic/horseshoe kidney
  • Posterior urethral valves
  • Prune-belly syndrome
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56
Q

UT ABNORMALITIES
How can posterior urethral valves present in utero?
What is a complication of posterior urethral valves?

A
  • Oligohydramnios + potentially pulmonary hypoplasia
  • Risk of dysplastic kidneys, at its worse if bilateral could lead to potter syndrome
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57
Q

UT ABNORMALITIES
What are the 2 first steps in management of urinary tract abnormalities?
How is the management split after that?

A
  • Antenatal Dx + start prophylactic Abx to prevent UTI
  • Bilateral hydronephrosis and/or dilated lower urinary tract in a male
  • Unilateral hydronephrosis in male or any anomaly in female
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58
Q

UT ABNORMALITIES
What is the management of bilateral hydronephrosis and/or dilated lower urinary tract in a male?

A
  • Bilateral seen in bladder neck obstruction or posterior urethral valves
  • USS within 48h of birth to exclude posterior urethral valves
    – Abnormal = MCUG + surgery if required (ablation during cystoscopy)
    – Normal = stop Abx, repeat USS after 2-3m
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59
Q

UT ABNORMALITIES
What is the management of unilateral hydronephrosis in male or any anomaly in female?

A
  • Unilateral seen in pelviureteric or vesicoureteric junction obstruction
  • Abnormal = further investigations
  • Normal = stop Abx, repeat USS after 2-3m
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60
Q

VESICOURETERIC REFLUX
how is it graded?

A

graded using International Reflux Study grading system

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61
Q

NEPHROTIC SYNDROME
what can cause minimal change disease?

A
  • NSAIDs,
  • Hodgkin’s lymphoma,
  • infectious mononucleosis
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62
Q

UTI
What are the investigations for recurrent + atypical UTIs?

A
  • USS within 6w in all children with recurrent UTIs
  • DMSA (dimercaptosuccinic acid) scan (renal scarring 4-6m)
  • Micturating cystourethrogram (<6m) if FHx of vesico-ureteric reflux, dilatation of ureter on USS, poor urinary flow (catheterise + inject contrast into bladder)
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63
Q

UTI
What is the management of children under 3m in UTI?

A

ALL children <3m + fever get immediate IV cefuroxime + full septic screen (blood cultures, FBC, CRP lactate, LP etc)

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64
Q

UTI
What is the management of UTI for >3m with lower UTI?

A

3d PO trimethoprim, nitrofurantoin, amoxicillin or cephalosporin with follow-up if still unwell after 24-48h

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65
Q

PYELONEPHRITIS
what are the risk factors?

A
  • vesicoureteral reflux (VUR) = most common + most important
  • previous history of UTI
  • siblings with a history of UTI
  • female sex
  • indwelling urinary catheter
  • intact prepuce in boys
  • structural abnormalities of the kidneys and lower urinary tract
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66
Q

PYELONEPHRITIS
what is the management?

A
  • empirical antibiotics (co-amoxiclav or cefalexin) then targeted based on cultures
  • severe = hospitalisation and IV antibiotics
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67
Q

NOCTURNAL ENURESIS
what are the causes?

A
  • not waking to bladder signals
  • inadequate levels of vasopressin (ADH)
  • overactive bladder
  • constipation
  • UTIs
  • Family history
  • Anxiety/stress
  • poor bedtime routines
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68
Q

NOCTURNAL ENURESIS
what is the presentation of inadequate levels of vasopressin?

A
  • large volumes of urine passed at night
  • wet in the early part of the night
  • wet more than once per night
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69
Q

NOCTURNAL ENURESIS
what is the presentation of an overactive bladder?

A
  • damp patches that occur at night also occur during the day
  • the volume of urine passed is variable
  • children often wake after wetting at night
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70
Q

NOCTURNAL ENURESIS
what is the medical management?

A
  • antibiotics for infection
  • laxatives for constipation
  • alarms
  • desmopressin
  • anticholinergic medications (oxybutynin + tolterodine) for detrusor relaxation
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71
Q

ALPORT SYNDROME
what is the clinical presentation?

A
  • haematuria
  • oedema
  • hypertension
  • loss of kidney function
  • progressive hearing loss
  • proteinuria
  • vision problems
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72
Q

JAUNDICE
Jaundice can be split into 3 aetiological time categories.
What are these?

A
  • <24h = always pathological, usually haemolytic disease
  • 24h–2w = common
  • > 2w = also bad
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73
Q

JAUNDICE
What are some causes of jaundice 24h–2w after birth?

A
  • Physiological + breast milk jaundice (common)
  • Infection (UTI, sepsis)
  • Haemolysis, polycythaemia, bruising
  • Crigler-Najjar syndrome (rare inherited disorder with no UGT enzyme)
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74
Q

JAUNDICE
What are some causes of jaundice >2w after birth?

A
  • Unconjugated = physiological or breast milk, UTI, hypothyroid, high GI obstruction (pyloric stenosis), Gilbert syndrome
  • Conjugated (>25umol/L) = bile duct obstruction (biliary atresia), neonatal hepatitis
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75
Q

JAUNDICE
What is Gilbert’s syndrome?
How does it present?

A
  • AR deficiency of UDP-glucuronyltransferase = defective bilirubin conjugation
  • Unconjugated hyperbilirubinaemia (not in urine), jaundice may only be present if ill, exercising or fasting
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76
Q

JAUNDICE
What investigations would you perform in neonatal jaundice?

A
  • FBC + blood film (polycythaemia, G6PD, spherocytosis)
  • Bilirubin levels
  • Blood type testing of mother + baby for ABO/Rh incompatibility
  • Direct Coombs (antiglobulin) test for haemolysis
  • TFTs, LFTs + urine MC&S
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77
Q

HIE
What happens as a result of cardiorespiratory depression?

A
  • Hypoxia, hypercarbia + metabolic acidosis
  • Compromised cardiac output reduces tissue perfusion > hypoxic ischaemic injury to brain
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78
Q

HIE
What is used to stage the severity of HIE?
What are the stages?

A

Sarnat staging –

  • Mild = poor feeding, generally irritable + hyperalert, resolves in 24h
  • Moderate = poor feeding, lethargic, hypotonic, seizures, can take weeks to resolve
  • Severe = reduced GCS, apnoeas, flaccid + reduced/absent reflexes, half die
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79
Q

TORCH
What are the characteristic features of toxoplasmosis?

A
  • Cerebral calcification, chorioretinitis + hydrocephalus
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80
Q

TORCH
What is the clinical presentation of CMV?

A
  • 90% normal at birth
  • 5% = hepatosplenomegaly, petechiae at birth, growth issues, neurodevelopmental disabilities (cerebral palsy, epilepsy, microcephaly)
  • 5% = problems later in life, mainly sensorineural hearing loss
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81
Q

TORCH
How does syphilis present?

A
  • Rash on soles of feet + hands
  • Hutchinson’s triad = keratitis, deafness, small + pointed teeth
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82
Q

BRONCHOPULMONARY DYSPLASIA
How can bronchopulmonary dysplasia be prevented?

A
  • Corticosteroids to mothers in premature labour <34w
  • CPAP rather than intubation where possible
  • Use caffeine to stimulate resp effort
  • Do not over oxygenate
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83
Q

GROUP B STREP INFECTION?
what is the management?

A
  • IV antibiotics (IV benzylpenicillin with gentamicin)
  • NICU admission
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84
Q

PREMATURITY
What are some neuro complications of prematurity?

A
  • Cerebral palsy,
  • hearing/visual impairment,
  • intraventricular haemorrhage
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85
Q

PREMATURITY
What are some metabolic complications of prematurity?

A
  • Hypoglycaemia,
  • hypocalcaemia,
  • electrolyte imbalance,
  • fluid imbalance
  • hypothermia
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86
Q

JAUNDICE
How does kernicterus present?
What are the outcomes?

A
  • Lethargy, poor feeding > hypertonia, seizures + coma
  • Permanent damage = dyskinetic cerebral palsy, LD + deafness
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87
Q

TORCH
How is syphillis managed?

A
  • If fully treated ≥1m before delivery = no treatment
  • Any doubts = benzylpenicillin
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88
Q

LISTERIA INFECTION
what is the management?

A

ampicillin + aminoglycoside (gentamycin)

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89
Q

SIDS
what are the risk factors?

A
  • not prone sleeping
  • parental smoking
  • prematurity
  • bed sharing
  • hyperthermia
  • head covering

other risk factors
- LBW
- male sex
- maternal drug use
- multiple births
- incidence increases in winter

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90
Q

SIDS
what are protective factors?

A
  • breastfeeding
  • room sharing
  • use of dummies
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91
Q

SIDS
what measures can be taken to reduce the risk of SIDS?

A
  • put baby on their back when not directly supervised
  • keep head uncovered
  • place feet at foot of the bed to prevent them sliding down under blanket
  • keep cot clear of toys and blankets
  • maintain a comfortable room temperature (16-20 degrees)
  • avoid smoking (avoid handling baby after smoking)
  • avoid co-sleeping (particularly on sofa or chair)
  • if co-sleeping avoid drugs, alcohol, sleeping tablets or deep sleepers
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92
Q

CONGENITAL HYPOTHYROIDISM
what are the causes?

A
  • primary congenital hypothyroidism
  • thyroid dysgenesis
  • dyshormonogenesis
  • secondary or central congenital hypothyroidism
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93
Q

CONGENITAL HYPOTHYROIDISM
what are the risk factors?

A
  • medication use during pregnancy
  • maternal advanced age
  • family history of thyroid disease
  • low birth weight
  • preterm birth
  • multiple pregnancies
94
Q

CONGENITAL HYPOTHYROIDISM
what are the clinical features?

A
  • prolonged neonatal jaundice
  • poor feeding + weight gain
  • hypothermia
  • macroglossia
  • large fontanelle
  • distended abdomen with umbilical hernia
  • dry skin
  • hoarse cry
  • myxoedema
  • bradycardia
95
Q

CEREBRAL PALSY
What are some early features of cerebral palsy?

A
  • Abnormal limb/trunk tone + posture with delayed motor milestones
  • Feeding issues > oromotor incoordination, slow feeding, gagging + vomiting
  • Abnormal gait when walking achieved
  • Hand preference before 12m + primitive reflexes after 6m
96
Q

CEREBRAL PALSY
What are the stages of the Gross Motor Function Classification System?

A
  • I = walks without limitation
  • II = with limitation
  • III = handheld mobility device
  • IV = III with limitation
  • V = wheelchair
97
Q

HEARING
What are some risk factors for conductive hearing loss?

A
  • Down’s syndrome,
  • craniofacial syndromes
  • cleft palate
98
Q

HEARING
What testing might be done in children 6–9m?

A
  • Distraction testing
  • Relies on baby locating + turning appropriately to high + low frequency sounds out of field of vision
  • 2x trained staff
99
Q

HEARING
What testing might be done in children 10–18m?

A
  • Visual reinforcement audiometry
  • Hearing thresholds are established using visual rewards (illumination of toys) to reinforce the child’s head turn to stimuli of different frequencies
  • First test that does single ear measures
100
Q

HEARING
What hearing tests are done at…

i) >2y?
ii) >2.5y?
iii) 4y?

A

i) Performance testing = child performs an action when hear a noise
ii) Speech discrimination tests (McCormick toy test)
iii) Pure tone audiometry at school entry = child responds to pure tone stimulus with headphones

101
Q

HEARING
What does Rinne’s test show you?

A
  • Normal = louder at EAM
  • Conductive = louder on mastoid
  • Sensorineural = both decreased
102
Q

HEARING
What does Weber’s test show you?

A
  • Normal = vibrations equal in both ears
  • Conductive = louder in abnormal ear
  • Sensorineural = louder in normal ear
103
Q

EPILEPSY
What are 4 epilepsy syndromes seen in children?

A
  • Infantile spasms (West’s syndrome)
  • Lennox-Gastaut syndrome
  • Juvenile myoclonic epilepsy
  • Benign Rolandic epilepsy = M>F, paraesthesia (unilateral face, tongue, twitching) during sleep, EEG shows centrotemporal focal spike waves
104
Q

EPILEPSY
What are the 3 components to infantile spasms?

A
  • Violent flexor spasms of head, trunk + limbs followed by extension of arms (salaam spasms) for 1-2s, can repeat up to 50 times
  • Progressive mental handicap
  • EEG shows hypsarrhythmia
105
Q

EPILEPSY
What is Lennox-Gastaut syndrome?
How does it present?
Management?

A
  • Can be extension of infantile spasms, 1-5y
  • Atypical absences, falls, jerks + 90% have mod-severe mental handicap
  • EEG shows slow spike, ketogenic diet may help
106
Q

EPILEPSY
Who is juvenile myoclonic epilepsy more common in?
How does it present?
Management?

A
  • Teens, F>M
  • Infrequent generalised seizures (often morning), daytime absences, sudden shock-like myoclonic seizures (can happen before seizures)
  • Good response to valproate
107
Q

EPILEPSY
What is the management of generalised seizures?

A
  • 1st line = sodium valproate
  • 2nd line = lamotrigine, carbamazepine (TC), clonazepam (myoclonic)
108
Q

EPILEPSY
What is the management of focal seizures?

A
  • 1st line = carbamazepine or lamotrigine
  • 2nd line = levetiracetam or sodium valproate
109
Q

EPILEPSY
What is the management of absence seizures?

A
  • Ethosuximide or sodium valproate
110
Q

NEUROFIBROMATOSIS
What is the clinical presentation of neurofibromatosis 1?

A
  • No intellectual problems but lots of skin involvement
  • > 5 café-au-lait spots
  • Axillary freckling in skin folds
  • Iris hamartomas, scoliosis + pheochromocytomas
  • Peripheral neurofibromas
111
Q

NEUROFIBROMATOSIS
What is the clinical presentation of neurofibromatosis 2?

A
  • Hearing problems with no skin involvement
  • Bilateral vestibular schwannomas > sensorineural hearing loss then tinnitus + vertigo
112
Q

TUBEROUS SCLEROSIS
What are the cutaneous features of tuberous sclerosis?

A
  • Hypopigmented ‘ash-leaf’ spots which fluoresce under UV light
  • Roughened (Shagreen) patches of skin over lumbar spine
  • Angiofibromas (butterfly distribution over nose)
  • Subungual fibromata
113
Q

TUBEROUS SCLEROSIS
What are some other features of tuberous sclerosis?

A
  • Neuro = epilepsy (infantile spasms or partial), developmental delay + intellectual impairment
  • Retinal hamartomas,
  • polycystic kidneys,
  • rhabdomyomata of heart
114
Q

EPILEPSY
What is the management of infantile spasms?

A

Vigabatrin or corticosteroids (poor prognosis)

115
Q

EPILEPSY
What is the management of myoclonic seizures?

A
  • 1st line = sodium valproate
  • 2nd line = clonazepam
116
Q

‘FUNNY TURNS’
What are the investigations for reflex anoxic seizures?

A
  • Ocular compression under controlled conditions often lead to asystole
  • paroxysmal slow-wave discharge on EEG
117
Q

DEVELOPMENTAL DELAY
what are the referral points?

A
  • doesn’t smile at 10 weeks
  • cannot sit unsupported at 12 months
  • cannot walk at 18 months
118
Q

MENINGITIS
What are the most common causes of bacterial meningitis?

A
  • Neonates = GBS or listeria monocytogenes
  • 1m–6y = N. meningitidis (gram -ve diplococci), S. pneumoniae (gram + ve cocci chain), H. influenzae
  • > 6y = meningococcus + pneumococcus, rarely TB
119
Q

KAWASAKI DISEASE
What is the diagnostic criteria for Kawasaki disease?

A

Fever + 4 (MyHEART) –

  • Mucosal involvement (red/dry cracked lips, strawberry tongue)
  • Hands + feet (erythema then desquamation)
  • Eyes (bilateral conjunctival injection, non-purulent)
  • lymphAdenopathy (unilateral cervical >1.5cm)
  • Rash (polymorphic involving extremities, trunk + perineal regions
  • Temp >39 for >5d
120
Q

MEASLES
What is the clinical presentation of measles?

A
  • Prodromal Sx for 3–5d (CCCK) – Cough, Coryza, Conjunctivitis, Koplik spots
  • Maculopapular rash starts on forehead, neck + behind ears > down to limb, trunk
  • Fever, marked malaise
121
Q

MEASLES
What are some important complications of measles?

A
  • Otitis media (commonest complication)
  • Pneumonia (commonest cause of death)
  • Diarrhoea
  • Febrile convulsions, encephalitis
  • Subacute sclerosing panencephalitis rare where 5-10y after primary measles > loss of neuro function, dementia + death
122
Q

RUBELLA
What is the clinical presentation of rubella?

A

SYMPTOMS
- rash
- arthralgia
- prodromal symptoms (low grade fever, headache, malaise, coryza)

SIGNS
- maculopapular rash (starts on face before spreading down neck + becoming generalised)
- lymphadenopathy (suboccipital, postauricular and cervical)

123
Q

RUBELLA
What are some complications of rubella?
How can it be reduced?

A
  • Rare but > encephalitis, arthritis, myocarditis + thrombocytopenia
  • Congenital rubella syndrome > cataracts, CHD + sensorineural deafness
  • Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated
124
Q

MUMPS
What are some complications of mumps?

A
  • Viral meningitis + encephalitis
  • Orchitis (usually unilateral, may reduce sperm count + lead to infertility)
  • Pancreatitis
125
Q

SCARLET FEVER
What is the clinical presentation of scarlet fever?

A

SYMPTOMS
- sore throat
- fever (>38.3 degrees)
- fatigue
- nausea and vomiting
- headache

SIGNS
- petechiae on hand and soft palate
- strawberry tongue (erythema, white exudate, enlarged papillae)
- rash (widespread, erythematous, blanching, pinpoint ‘sandpaper’ texture, accentuated in flexure creases, begins on trunk, spares palms and soles)
- cervical lymphadenopathy
- facial flushing

126
Q

SCARLET FEVER
What is the management of scarlet fever?

A
  • Notifiable disease
  • Phenoxymethylpenicillin for 10d to prevent rheumatic fever
  • Supportive (fluids, pain relief)
  • School exclusion until 24h after Abx
127
Q

SLAPPED CHEEK
What is slapped cheek syndrome, or erythema infectiosum?

A
  • Caused by parvovirus B19, outbreaks common during spring months
128
Q

SLAPPED CHEEK
What is the clinical presentation of slapped cheek syndrome?

A
  • Prodromal Sx = fever, malaise, headache, myalgia
  • Followed by classic rose-red rash on face week later (slapped-cheek)
  • Progresses to maculopapular, ‘lace-like’ rash on trunk + limbs
129
Q

SLAPPED CHEEK
What are some complications of slapped cheek syndrome?

A
  • Aplastic crisis (most serious) more common in chronic haemolytic anaemias like sickle cell, thalassaemia + in immunocompromised
  • Vertical transmission can lead to foetal hydrops + death due to severe anaemia
130
Q

VACCINATIONS
What vaccines are attenuated?

A
  • MMR, BCG, nasal flu, rotavirus + Men B
131
Q

VACCINATIONS
What vaccines are given at…

i) 2m?
ii) 3m?
iii) 4m?

A

i) 6-in-one, rotavirus + men B
ii) 6-in-one, rotavirus + PCV
iii) 6-in-one, men B

132
Q

VACCINATIONS
What vaccines are given at…
i) 1y?
ii) 3y + 4m?
iii) 12-13y?
iv) 14y?

A

i) Men B, PCV, Hib/Men C + MMR
ii) MMR, 4-in-one preschool booster = DTaP + IPV
iii) HPV
iv) 3-in-1 teenage booster = tetanus, diphtheria + IPV, men ACWY

133
Q

POLIO
what is the clinical presentation?

A

90-95% of cases are asymptomatic
fatigue
fever
nausea and vomiting
diarrhoea
sore throat
headache
photophobia

134
Q

POLIO
what are the clinical features of a more serious polio infection?

A

acute flaccid paralysis (AFP)
- initially fatigue, fever N+V
- asymmetrical lower limb weakness and flaccidity

can progress to life-threatening bulbar paralysis and respiratory compromise

135
Q

DIPHTHERIA
what is the management?

A
  • hospitalisation, isolation
  • diphtheria anti-toxin
  • IM penicillin
136
Q

DIPHTHERIA
what is the management for close-contacts?

A

prophylactic antibiotics - erythromycin

diphtheria toxoid immunisation

137
Q

SCARLET FEVER
What are some complications of scarlet fever?

A
  • Otitis media (#1),
  • quinsy,
  • post-strep glomerulonephritis,
  • rheumatic fever
138
Q

VACCINATIONS
Which vaccines are included in the 6-in-1 injection?

A
  • diphtheria
  • tetanus
  • pertussis DTaP (whooping cough)
  • polio IPV
  • Haemophilus influenza B (HiB)
  • Hepatitis B
139
Q

JIA
What are the XR features of JIA?

A

Same as RA (LESS) –

  • Loss of joint space
  • Erosions (causing joint deformity)
  • Soft tissue swelling
  • Soft bones (osteopenia)
140
Q

JIA
What are some complications from JIA?

A
  • Chronic anterior uveitis > severe visual impairment
  • Flexion contractures of joints
  • Growth failure + constitutional problems like delayed puberty
  • Osteoporosis
141
Q

RICKETS
What are some risk factors for rickets?

A
  • Darker skin (need more sunlight)
  • Lack of exposure to sun
  • Poor diet or malabsorption
  • exclusive breastfeeding without vitamin D supplementation
  • CKD as kidneys metabolise vitamin D to active form
142
Q

RICKETS
What are some bone deformities seen in rickets?

A
  • Bowing of legs, knock knees
  • Harrison sulcus = indentation of softened lower ribcage at site of attachment of diaphragm
  • Rachitic rosary = ends of ribs expand at costochondral junctions causing lumps along chest
  • Craniotabes = soft skull with delayed closure of sutures + frontal bossing
  • Expansion of metaphyses (esp. wrist)
143
Q

RICKETS
What might an XR show in rickets?

A
  • Osteopenia (radiolucent bones)
  • Cupping
  • Fraying of metaphyses
  • Widened epiphyseal plate
144
Q

NAPPY RASH
How do you differentiate between irritant dermatitis and candida dermatitis?

A
  • Irritant = sore, red, inflamed skin but spares the skin creases
  • Candida = involves skin creases, satellite lesions (small similar lesions near edges of principle lesion) + may have oral thrush
145
Q

SCOLIOSIS
what conditions can cause scoliosis?

A

cerebral palsy
muscular dystrophy
birth defects
infections
tumours
marfan syndrome
down syndrome

146
Q

SEPTIC ARTHRITIS
What are common causes in…
i) infants?
ii) <4y?
iii) >4y?

A

i) GBS, S. aureus, coliforms
ii) S. aureus, pneumococcus, haemophilus
iii) S. aureus, gonococcus (adolescents)

147
Q

SEPTIC ARTHRITIS
what is the criteria for diagnosing septic arthritis?

A

Kocher’s modified criteria /5, ≥3 is likely
–Temp>38.5
– Raised CRP/ESR/WCC
– Non-weight bearing

148
Q

OSTEOGENESIS IMPERFECTA
What is the pathophysiology?

A

Defects in type 1 collagen protein which is essential for the structure + function of bone, as well as skin, tendons + other connective tissues

149
Q

STEVEN-JOHNSON
what are the investigations?

A
  • skin biopsy = full thickness epidermal keratinocyte necrosis + minimal dermal inflammation
  • serum granulysin = elevated

to consider
- FBC, CRP and blood cultures (to exclude staph scalded skin syndrome)
- U&Es (look for dehydration + AKI)

150
Q

PERTHE’S DISEASE
what is the classifications system?

A

Catterall classification

defines severity based on epiphyseal involvement on AP and lateral x-rays

151
Q

NEUROBLASTOMA
What are the investigations for neuroblastoma?

A
  • Raised urinary catecholamine levels
  • CT/MRI + confirmatory biopsy
  • Evidence of metastatic disease = bone marrow sampling, MIBG scan ±bone scan
152
Q

FANCONI SYNDROME
What is fanconi syndrome?

A
  • Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in…
    – Type 2 (proximal) renal tubular acidosis
    – Polydipsia, polyuria, aminoaciduria + glycosuria
    – Osteomalacia/rickets
153
Q

FANCONI SYNDROME
What are some causes of fanconi syndrome?

A
  • Usually secondary to inborn errors of metabolism
    – Cystinosis (AR > intracellular accumulation of cysteine, most common)
    – Wilson’s disease, galactosaemia, glycogen storage disorders
154
Q

ANAEMIA OVERVIEW
What is anaemia?
How is it defined in paeds?

A
  • Hb level below the normal range
  • Neonate = <14g/dL
  • 1–12m = <10g/dL
  • 1–12y = <11g/dL
155
Q

ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?

A
  • Ineffective erythropoiesis (Fe, folate deficiency, CKD)
  • Red cell aplasia
  • Normal reticulocytes, abnormal MCV in nutrient deficiencies
156
Q

ANAEMIA OVERVIEW
What are some causes of anaemia in the neonate?

A
  • Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia
  • Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)
157
Q

ANAEMIA OVERVIEW
What are the main causes of anaemia of prematurity?

A
  • Inadequate erythropoietin production
  • Reduced red cell lifespan
  • Frequent blood sampling whilst in hospital
  • Iron + folic acid deficiency after 2-3m.
158
Q

VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?

A
  • Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder
  • AD, type 1 most common + mildest
  • Severity increases with type 2, type 3 has very low or no vWF (AR)
159
Q

VON WILLEBRAND DISEASE
What are some investigations for vWD?

A
  • FBC (normal platelets) + blood film, biochemical screen including renal + liver function
  • Prolonged bleeding time
  • Prothrombin time normal
  • APTT = elevated or normal
  • vWF antigen decreased, vWF multimers variable
160
Q

COAGULATION DISORDERS
What can cause vitamin K deficiency?

A
  • Inadequate intake = neonates, long-term chronic illness
  • Malabsorption = coeliac, cystic fibrosis
  • Vitamin K antagonists = warfarin
161
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the clinical presentation?

A
  • anti-D antibodies in mother detected by Coombe’s test that all women have at 1st antenatal appointment
  • routine USS may detect hydrops fetalis or polyhydramnios
  • mild cases = jaundice, pallor + hepatosplenomegaly, hypoglycaemia
  • severe cases = oedema, petechiae + ascites
162
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management after delivery?

A

50% = normal haemoglobin + bilirubin but should be monitored for anaemia for 6-8 weeks
25% = require transfusion + may require phototherapy to avoid kernicterus
25% = stillborn or have hydrops fetalis

163
Q

GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example

A
  • Most genes both copies are expressed, some genes are only maternally or paternally expressed (imprinting)
  • Prader-Willi + Angelman’s syndrome both caused by either cytogenic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15
164
Q

GENETICS OVERVIEW
Explain the process of gonadal mosaicism

A
  • Father = mosaic sperm (some sperm with mutated gene, some sperm normal)
  • Mother = all eggs with normal gene
  • Offspring = fertilised egg > union of male DNA (sperm) with mutated gene + female DNA (egg) with normal gene
  • Every cell of embryo has one copy of mutated + one copy of normal
165
Q

DOWN’S SYNDROME
What is the classical craniofacial appearance in Down’s syndrome?

A
  • Flat occiput (brachycephaly) + flat bridge of nose
  • Upward sloping palpebral fissures (eyes slant down + inwards)
  • Prominent epicanthic folds (skin overlying medial portion of eye + eyelid)
  • Short neck + stature
  • Small mouth, protruding tongue, small ears
  • Brushfield spots in iris (pigmented spots)
166
Q

DOWN’S SYNDROME
Other than craniofacial anomalies, what other anomalies can be seen in Down’s syndrome?

A
  • Widely separated first + second toe (sandal gap)
  • Hypotonia
  • Single transverse palmar (simian) crease
167
Q

DOWN’S SYNDROME
What are some complications of Down’s syndrome?

A
  • LDs + delayed motor milestones
  • Complete AVSD
  • Atlantoaxial instability = risk of neck dislocation during sports
  • Hypothyroidism, duodenal atresia, Hirschsprung’s
  • Hearing + visual impairment, strabismus
  • Increased ALL + early-onset dementia
168
Q

PATAU’S SYNDROME
What are some clinical features of Patau’s syndrome?

A
  • Microcephalic, scalp lesions, small eyes + other eye defects
  • Cleft lip + palate
  • Polydactyly (think 13 fingers)
  • Cardiac + renal malformations
169
Q

EDWARD’S SYNDROME
What is the clinical presentation of Edward’s syndrome?

A
  • Prominent occiput
  • Small mouth + chin (micrognathia)
  • Low set ears
  • Flexed, overlapping fingers
  • Rocker-bottom feet (flat)
  • Cardiac + renal malformations
170
Q

FRAGILE X SYNDROME
What are some cognitive features of fragile X syndrome?

A
  • Intellectual disability
  • Delay speech + language
  • Delayed motor development (may be secondary to hypotonia)
  • Aggressive, hyperactive + poor impulse control
  • “Cocktail personality” = happy bouncy children
171
Q

FRAGILE X SYNDROME
What are some physical features of fragile X syndrome?

A
  • Long narrow face + large ears
  • Large testicles after puberty
  • Hypermobile joints (esp. hands)
  • Hypersensitivity to stimuli
172
Q

TURNER’S SYNDROME
What is the clinical presentation of Turner’s syndrome?

A
  • Short stature, webbed neck, shield chest + widely spaced nipples (classic)
  • Delayed puberty, underdeveloped ovaries > primary amenorrhoea + infertility
  • Cubitus valgus
173
Q

TURNER’S SYNDROME
What are some complications of Turner’s syndrome?

A
  • Coarctation or bicuspid aortic valve
  • Increased risk of CHD > HTN, obesity
  • DM, osteoporosis, hypothyroidism
  • Recurrent otitis media + UTIs
  • Horseshoe kidney, susceptible to x-linked recessive conditions
174
Q

DUCHENNE’S
What is Duchenne’s muscular dystrophy?

A
  • X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
175
Q

DUCHENNE’S
What is the clinical presentation of Duchenne’s muscular dystrophy?

A
  • Proximal muscle weakness from 5y
  • Delayed milestones
  • Waddling gait
  • Gower sign +ve
  • Calf pseudohypertrophy (replaced by fat + fibrous tissue)
176
Q

KLINEFELTER SYNDROME
What is Klinefelter syndrome?

A
  • When a male has an additional X chromosome, making 47XXY
  • Rarely even more X chromosomes like 48XXXY (more severe)
  • Chief genetic cause of hypergonadotropic hypogonadism
177
Q

KLINEFELTER SYNDROME
What is the clinical presentation of Klinefelter syndrome?

A
  • Often appear normal until puberty
  • Taller height + wider hips
  • Delayed puberty (lack of pubic hair, poor beard growth)
  • Gynaecomastia, small testicles/penis, infertility
  • Weaker muscles, shyness, subtle learning difficulties (esp. speech + language)
178
Q

KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?

A
  • Increased risk of breast cancer compared to other males
  • Osteoporosis
  • Diabetes
  • Anxiety + depression
179
Q

PRADER-WILLI SYNDROME
What is the clinical presentation of Prader-Willi syndrome?

A
  • Constant, insatiable hunger > hyperphagia + obesity
  • Initially failure to thrive due to hypotonia
  • Small genitalia, hypogonadism + infertility
  • Narrow forehead, almond eyes, strabismus
  • LDs, MH issues
180
Q

ANGELMAN’S SYNDROME
What is Angelman’s syndrome?
What is it caused by?

A
  • Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
  • Loss of function of maternal UBE3A gene
181
Q

ANGELMAN’S SYNDROME
What is the clinical presentation of Angelman’s syndrome?

A
  • “Happy puppet” = unprovoked laughing, clapping, hand flapping, ADHD
  • Fascination with water
  • Epilepsy, ataxia, broad based gait
  • Severe LD, delayed development
  • Widely spaced teeth, microcephaly
182
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
183
Q

NOONAN’S SYNDROME
What is the clinical presentation of Noonan’s syndrome?

A
  • Short stature, webbed neck, widely spaced nipples (Male Turner’s)
  • Pectus excavatum, low set ears
  • Hypertelorism (wide space between eyes)
  • Downward sloping eyes with ptosis
  • Curly/woolly hair
184
Q

NOONAN’S SYNDROME
What are some complications of Noonan’s syndrome?

A
  • CHD = pulmonary valve stenosis
  • Cryptorchidism which can lead to infertility (fertility in women normal)
  • LDs, bleeding disorders (XI deficient)
185
Q

WILLIAM’S SYNDROME
What is William’s syndrome?

A
  • Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
186
Q

WILLIAM’S SYNDROME
What is the clinical presentation of William’s syndrome?

A
  • Very friendly + sociable
  • Starburst eyes (star-pattern on iris)
  • Wide mouth, big smile + widely spaced teeth
  • Broad forehead, short nose + small chin
  • Mild LD, short stature
187
Q

WILLIAM’S SYNDROME
What are some complications of William’s syndrome?

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
188
Q

GENETICS OVERVIEW
What is non-disjunction?
What is the outcome?
Management?
Karyotype?

A
  • Error in meiosis where pair of chromosomes fail to separate so one gamete has 2 chromosome copies and one has none
  • Fertilisation of the gamete with 2 chromosomes gives rise to a trisomy
  • Parental chromosomes do not need to be examined, related to maternal age
  • 47 chromosomes
189
Q

GENETICS OVERVIEW
What is Robertsonian translocation?
Karyotype?

A
  • Extra copy of one chromosome is joined onto another chromosome
  • 46 chromosomes but 3 copies of one chromosomes material
190
Q

PRADER-WILLI SYNDROME
What is Prader-Willi syndrome?

A
  • Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
191
Q

PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of central precocious puberty?

A

Pathophysiology: LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal +

Causes:
- Familial,
- hypothyroidism,
- CNS (neurofibroma, tuberous sclerosis)

192
Q

PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?

A
  • Accentuation of normal maturation of androgen production by adrenal gland (adrenarche), can be late-onset CAH or adrenal tumour
  • Urinary steroid profile to help differentiate
193
Q

CAH
What is congenital adrenal hyperplasia (CAH)?

A
  • Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
  • Small minority = 11-beta-hydroxylase
194
Q

CAH
What is the pathophysiology of CAH?

A
  • 21-hydroxylase responsible for converting progesterone into cortisol + aldosterone
  • Progesterone also used to create testosterone, but not with 21-hydroxylase
  • Excess progesterone (as not converted to aldosterone or cortisol) gets converted into testosterone instead (high)
195
Q

CAH
What is the clinical presentation of CAH in females?

A

MILD
- ambiguous genitalia
- abnormal/absent periods
- deeper voice, early puberty + facial hair
- taller for age during childhood but become short as an adult if untreated
- skin hyperpigmentation

SEVERE
- virilised (male-appearing) genitalia from birth
- may exhibit features of mineralocorticoid and glucocorticoid deficiency from birth (hyponatraemia, hypoglycaemia + dehydration)

196
Q

CAH
What are some investigations for CAH?

A
  • serum 17-hydroxyprogesterone levels
  • serum electrolytes = hyponatraemia, hyperkalaemia, acidosis
  • serum hormone levels = raised ACTH and renin, low cortisol + aldosterone

to consider
- genetic testing
- pelvic USS (to visualise internal genitalia if ambiguous)

197
Q

SEXUAL DIFFERENTIATION
How does a male foetus produce male sexual characteristics?

A
  • Leydig cells produce testosterone causing Wolffian duct differentiation > vas, epididymis, seminal vesicles
  • Later, dihydrotestosterone leads to virilised external genitalia
198
Q

SEXUAL DIFFERENTIATION
What is the process of female sexual differentiation?

A
  • No SRY gene present so no AMH

- Mullerian duct persists which develops into ovaries + female genitalia

199
Q

DELAYED PUBERTY
What are some causes of hypogonadotropic hypogonadism?

A
  • Constitutional delay in growth + puberty (FHx)
  • Chronic diseases (IBD, CF, coeliac)
  • Excess stress (anorexia, intense exercise, low weight)
  • Hypothalamo-pituitary disorders (panhypopituitarism, Kallman’s + anosmia, GH deficiency)
200
Q

DELAYED PUBERTY
What are some causes of hypergonadotropic hypogonadism?

A
  • Chromosomal abnormalities (Turner’s XO, Klinefelter’s 47XXY)
  • Acquired gonadal damage (post-surgery, chemo/radio, torsion)
  • Congenital absence of the testes or ovaries
201
Q

DELAYED PUBERTY
In delayed puberty, what are some causes of…

i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?

A

i) Turner’s, Prader-Willi + Noonan’s
ii) PCOS, androgen insensitivity, Kallmann’s + Klinefelter’s

202
Q

DELAYED PUBERTY
What are some investigations for delayed puberty?

A
  • FBC + ferritin (anaemia), U+E (CKD), coeliac antibodies
  • Hormonal testing
  • Genetic testing/karyotyping
  • XR wrist to assess bone age (low in constitutional delay)
  • Pelvic USS to assess ovaries + other pelvic organs
  • MRI head if ?pituitary pathology + assess olfactory bulbs (Kallmann)
203
Q

DELAYED PUBERTY
What is the management of delayed puberty?

A
  • Constitutional = reassure, can Tx if severe distress
  • F = oestradiol
  • Young M = PO oxandrolone (weak androgenic steroid will induce some catch-up growth but not 2ary sexual characteristics)
  • Older M = low dose IM testosterone for growth + sexual characteristics
204
Q

KALLMAN SYNDROME
what is it?

A

genetic disorder that can be inherited via autosomal dominant, autosomal recessive and x-linked

205
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
206
Q

ANDROGEN INSENSITIVITY SYNDROME
what is it?

A

a genetic condition in which there are defects in the androgen receptor
- is x-linked recessive
- patients are genetically male (46XY)but develop female phenotype

207
Q

ANDROGEN INSENSITIVITY SYNDROME
what is complete AIS?

A
  • karyotype = 46XY
  • results in a completely female phenotype
  • external genitalia are female (clitoris, hypoplastic labia majora + blind-ending vagina)
  • testes may be present in abdomen
  • absence of pubic + axillary hair
  • normal breast development
208
Q

ANDROGEN INSENSITIVITY SYNDROME
what is partial AIS?

A
  • presents with a wide range of phenotypes
  • can present as normal male with fertility issues
  • sex assignment depends on the degree of genital ambiguity
209
Q

ANDROGEN INSENSITIVITY SYNDROME
what is true hermaphroditism?

A
  • have both ovarian tissue with follicles and testicular tissue with seminiferous tubules, either in the same organ or one on either side
  • external genitalia are often ambiguous
210
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

211
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
212
Q

FRAGILE X SYNDROME
What causes it?

A

Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X

213
Q

PRECOCIOUS PUBERTY
What are the causes in females?

A

More common in girls, usually idiopathic or familial, occasionally late presenting CAH

214
Q

PRECOCIOUS PUBERTY
What are the causes in males?

A

Less common, more worrying
– Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
– CAH or adrenal tumour (small testes)
– Gonadal tumour (unilateral testicular enlargement)

215
Q

PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?

A

McCune Albright syndrome (café-au-lait, short stature)

216
Q

HYPOGONADISM
Name the 3 types of hypogonadism?

A

Primary = hypergonadotropic hypogonadism
Secondary = hypogonadotropic hypogonadism
Tertiary = hypogonadotropic hypogonadism

217
Q

GONADOTROPIN DEFICIENCY
What is Hypergonadotropic hypogonadism?

A

Primary gonadal failure - Testes or ovarian failure

218
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism

A

Hypergonadotropic hypogonadism

Klinefelter’s Syndrome (47XXY)
Tuner’s Syndrome (45X)

219
Q

GONADOTROPIN DEFICIENCY
What is the effect of Hypergonadotropic hypogonadism on FSH/LH and oestrogen/testosterone levels?

A

FSH/LH = high
Oestrogen/testosterone = low

220
Q

GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?

A

Secondary gonadal failure = problem with pituitary
OR
Tertiary gonadal failure = Problem with hypothalamus

221
Q

GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of secondary hypogonadism

A

Less FSH and LH
So less activation at gonads
Girls = no response to feedback so oestrogen decreases
Boys = no response to feedback so testosterone decreases

222
Q

GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of tertiary hypogonadism

A

Less GnRH produced
So less FSH and LH
So less activation at gonads
Girls = no response to feedback so oestrogen decreases
Boys = no response to feedback so testosterone decreases

223
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism

A
  1. Kallmann’s Syndrome
  2. Tumours - craniopharyngiomas, germinomas
224
Q

GONADOTROPIN DEFICIENCY
What is the effect of hypogonadotropic hypogonadism on FSH/LH and oestrogen/testosterone levels?

A

FSH/LH = low
Oestrogen/testosterone = low

225
Q

HYPOTHALAMIC TUMOURS
what are the risk factors for developing hypothalamic tumours?

A

neurofibromatosis
undergone radiation therapy

226
Q

PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?

A

Causes:
– Adrenal (tumours, CAH)
– Granulosa cell tumour (ovary)
– Leydig cell tumour (testicular)

227
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

228
Q

OBESITY
what are the causes of obesity in children other than lifestyle factors?

A
  • growth hormone deficiency
  • hypothyroidism
  • Down’s syndrome
  • Cushing’s syndrome
  • Prader-Willi syndrome
229
Q

CAH
what is the clinical presentation in males?

A

MILD
- may be asymptomatic
- enlarged penis
- small testicles
- early puberty
- deep voice
- taller for their age during childhood bit become short as adults if untreated
- skin hyperpigmentation

SEVERE
- exhibit mineralocorticoid and glucocorticoid deficiency soon after birth (hypoglycaemia, hyponatraemia, dehydration)
- large penis size

MY REVISION - ALL TO DO 2 (24 decks)

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