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MY REVISION - ALL TO DO > TO DO PAEDS PART 2 > Flashcards

TO DO PAEDS PART 2 Flashcards

1
Q

FEBRILE CHILD
In terms of the NICE traffic light system, what is considered amber for…

i) colour?
ii) activity?
iii) respiratory?
iv) circulation and hydration?
v) other?

A

i) Pallor
ii) No smile, decreased activity, not responding to social cues, wakes when roused
iii) Nasal flaring, SpO2 ≤95%, crackles in chest RR>50 (6-12m) or >40 (>12m)
iv) Tachy (>160 if <1y, >150 if 1–2y, >140 if 2–5y), CRT ≥3s, dry mucous membranes, reduced urine output
v) 3-6m temp ≥39, fever ≥5d, rigors, joint swelling, non-weight bearing

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2
Q

FEBRILE CHILD
In terms of the NICE traffic light system, what is considered red for…

i) colour?
ii) activity?
iii) respiratory?
iv) circulation and hydration?
v) other?

A

i) Mottled skin
ii) No response to cues, doesn’t wake if roused, weak, high-pitched or constant cry
iii) Grunting, RR>60, mod-severe chest indrawing
iv) Reduced skin turgor, no urine output
v) <3m temp ≥38, non-blanching rash, bulging fontanelle, neck stiffness, status, focal seizures/neuro

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3
Q

CHICKEN POX
What are some risk factors for chicken pox?

A
  • Immunocompromised
  • Older age
  • Steroids
  • Malignancy
  • Neonates
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4
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
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5
Q

MENINGITIS
What is the difference between Kernig’s and Brudzinski signs?

A
  • Kernig = pain/unable to extend leg at knee when it’s bent
  • Brudzinski = involuntary flexion of hips/knees when neck flexed
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6
Q

MENINGITIS
You suspect a diagnosis of bacterial meningitis. How would a lumbar puncture confirm the diagnosis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?
v) other?

A

i) Cloudy/turbid
ii) ++ (make protein)
iii) –– (eat glucose)
iv) ++ neutrophil polymorphs
v) Gram stain

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7
Q

MENINGITIS
You suspect a diagnosis of viral meningitis. How would a lumbar puncture confirm the diagnosis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?
v) other?

A

i) Clear
ii) Normal/+
iii) Normal/-
iv) + lymphocytes
v) PCR

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8
Q

MENINGITIS
You suspect a diagnosis of TB meningitis. How would a lumbar puncture confirm the diagnosis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?
v) other?

A

i) Turbid/viscous
ii) +++
iii) –––
iv) + lymphocytes
v) Acid fast bacilli

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9
Q

MENINGITIS
What are some complications of meningitis?

A
  • Hearing (sensorineural) loss is key complication
  • Seizures + epilepsy, cerebral abscess, encephalitis + hydrocephalus
  • Cognitive impairment, cerebral palsy + LD
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10
Q

MENINGITIS
What is the management of bacterial meningitis?

A
  • Supportive = correct shock with fluids, oxygen if needed
  • <3m = IV cefotaxime + amoxicillin (cover listeria from ?pregnancy)
  • > 3m = IV ceftriaxone + IV dexamethasone to reduce frequency + severity of hearing loss + neuro damage (NOT before 3m)
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11
Q

ENCEPHALITIS
What would the CSF analysis show in encephalitis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?

A

i) Clear
ii) Normal/+
iii) Normal/–
iv) + lymphocytes

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12
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
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13
Q

KAWASAKI DISEASE
What is a key complication of Kawasaki disease?

A
  • Coronary artery aneurysm + sudden death
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14
Q

KAWASAKI DISEASE
What is the management of Kawasaki disease?

A

1ST LINE
- IV immunoglobulin (IVIg)
- aspirin
- follow-up echocardiogram

2ND LINE
- corticosteroids

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15
Q

MEASLES
What is measles?

A
  • Infection with measles virus (RNA paramyxovirus) via droplets (highly contagious)
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16
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
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17
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
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18
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)

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19
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
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20
Q

MUMPS
What is mumps?
How does it occur?

A
  • RNA paramyxovirus, occurs in winter + spring, spreads via resp droplets where virus replicates in epithelial cells
  • Virus accesses parotid glands before further dissemination
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21
Q

MUMPS
What are some complications of mumps?

A
  • Viral meningitis + encephalitis
  • Orchitis (usually unilateral, may reduce sperm count + lead to infertility)
  • Pancreatitis
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22
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

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23
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
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24
Q

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

A
  • Caused by parvovirus B19, outbreaks common during spring months
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25
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
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26
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
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27
Q

STAPH SCALDED SKIN
What is the clinical presentation of SSSS?

A
  • Starts as generalised patches of erythema on the skin, skin looks thin + wrinkled
  • Bullae formation which burst + leave very sore, erythematous skin below (like a burn/scald)
  • Nikolsky sign = gentle rubbing causes peeling
  • Systemic Sx = fever, lethargy, dehydration > sepsis
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28
Q

STAPH SCALDED SKIN
What is the management of SSSS?

A
  • Most need admission for IV flucloxacillin, fluid balance + analgesia
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29
Q

VACCINATIONS
How should vaccinations be given in those who are premature?

A
  • Not adjusted for prematurity, give chronologically
  • Babies born <28w should receive first set in hospital due to risk of apnoea
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30
Q

VACCINATIONS
What vaccines are attenuated?

A
  • MMR, BCG, nasal flu, rotavirus + Men B
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31
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

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32
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

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33
Q

VACCINATIONS
When in the vaccination schedule would at risk individuals get…

i) hep B vaccine?
ii) BCG?

A

i) Neonate, 1m and 1y (as well as 2m, 3m, 4m as normal schedule)
ii) Neonate

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34
Q

ALLERGY
What is the Gell and Coombs hypersensitivity classification?

A
  • Type 1 = IgE trigger mast cells + basophils to release histamines + cytokines
  • Type 2 = IgG/M bind to cell-surface antigens which is a host cell but activates immune system as considers foreign > cytotoxic
  • Type 3 = immune complex mediated with activation of complement/IgG
  • Type 4 = T-cell mediated delayed type hypersensitivity
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35
Q

WHOOPING COUGH
What are some complications of pertussis?

A
  • Pneumonia
  • Convulsions
  • Bronchiectasis
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36
Q

WHOOPING COUGH
What is the management of pertussis?

A
  • Notify PHE
  • Prophylaxis = vaccine (esp. infants + pregnant women) or if close contact macrolide (erythromycin)
  • PO macrolides (azithromycin, clarithromycin) 1st line if onset <21d
  • School exclusion for 48h following Abx or 21d from onset if no Abx
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37
Q

POLIO
what is the clinical presentation?

A

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

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38
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

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39
Q

POLIO
what are the investigations?

A
  • virus culture from stool, CSF or pharynx
  • CSF analysis
  • serum antibodies to poliovirus
  • MRI of spinal cord
  • EMG of affected limb(s)
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40
Q

POLIO
what are the complications?

A

post-poliomyelitis syndrome (PPS) - this usually occurs years after the initial infection
- demonstrates the same features as polio infection
- treated in the same way as polio

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41
Q

DIPHTHERIA
what is the cause?

A

Corynebacterium diphtheriae

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42
Q

DIPHTHERIA
what is the management?

A
  • hospitalisation, isolation
  • diphtheria anti-toxin
  • IM penicillin
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43
Q

DIPHTHERIA
what is the management for close-contacts?

A

prophylactic antibiotics - erythromycin

diphtheria toxoid immunisation

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44
Q

CHICKEN POX
What is the management of Ramsay Hunt syndrome?

A

PO aciclovir + corticosteroids

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45
Q

KAWASAKI DISEASE
What are the side effects of IVIG in the management of Kawasaki disease?

A
  • anaphylaxis,
  • aseptic meningitis,
  • organ dysfunction
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46
Q

MUMPS
What marker may be raised?

A

Raised amylase

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47
Q

SCARLET FEVER
What are some complications of scarlet fever?

A
  • Otitis media (#1),
  • quinsy,
  • post-strep glomerulonephritis,
  • rheumatic fever
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48
Q

ALLERGY
Give an example of a type 2 hypersensitivity reaction

A
  • autoimmune disease,
  • haemolytic disease of newborn,
  • transfusion reaction
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49
Q

ALLERGY
Give an example of a type 3 hypersensitivity reaction

A
  • SLE,
  • RA,
  • HSP,
  • post-strep glomerulonephritis
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50
Q

ALLERGY
Give an example for of a type 4 hypersensitivity reaction

A
  • TB,
  • contact dermatitis
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51
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
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52
Q

PERTHE’S DISEASE
What are some risk factors for Perthe’s disease?

A
  • Social deprivation
  • LBW
  • Passive smoking
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53
Q

JIA
What is the criteria for a clinical diagnosis of JIA?

A
  • Onset before 16y with no underlying cause
  • Joint swelling/stiffness
  • > 6w in duration to exclude other causes (i.e. reactive)
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54
Q

JIA
What are the 4 types of JIA?

A
  • Systemic JIA (Still’s disease)
  • Polyarticular JIA
  • Oligoarticular JIA
  • Enthesitis-related arthritis
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55
Q

JIA
How does systemic JIA (Still’s disease) present?

A
  • Subtle salmon-pink rash
  • High swinging fevers
  • Lymphadenopathy, weight loss, muscle pain, splenomegaly
  • Pleuritis, pericarditis + uveitis
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56
Q

JIA
What is the main complication of systemic JIA?

A
  • Macrophage activation syndrome = severe activation of immune system with massive inflammatory response
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57
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)
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58
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
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59
Q

JIA
What is the medical management of JIA?

A

1st line
- intra-articular corticosteroids
- IV corticosteroids (for short term control of severe symptoms)
- methotrexate
- NSAIDs (to reduce pain + inflammation)
- physiotherapy + occupational therapy

2nd line
- etanercept
- anakinra
- tocilizumab

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60
Q

SUFE/SCFE
What is SUFE/SCFE associated with?

A
  • Boys, >10y, obese + undergoing growth spurt
  • Metabolic endocrine abnormalities (hypothyroid)
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61
Q

SUFE/SCFE
What is the clinical presentation of SUFE/SCFE?

A

SYMPTOMS
- unilateral pain in groin, hip, thigh and/or knee
- limp (acute or chronic)
- bilateral pains in the groin, hip, thigh or knee

SIGNS
- restricted flexion, abduction and internal rotation of hip joint
- antalgic gait

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62
Q

OSTEOGENESIS IMPERFECTA
What is osteogenesis imperfecta?

A
  • Autosomal dominant condition leading to brittle bones + prone to fractures
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63
Q

OSTEOGENESIS IMPERFECTA
What are some associations with osteogenesis imperfecta?

A
  • Conductive hearing loss (otosclerosis)
  • Blue/grey tinted sclera due to scleral thinness
  • Valvular prolapse, aortic dissection > aortic incompetence
  • Hernias
  • ‘Wormian bones’ = skull feels like bubble wrap (wiggly black lines on skull XR)
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64
Q

OSTEOGENESIS IMPERFECTA
In the Sillence classification, what is…

i) type 1?
ii) type 2?
iii) types 3–4?

A

i) Mildest form, common with blue sclera
ii) Lethal form, chest too small to allow breathing, lots of rib # + lungs do not function
iii) Normal sclera

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65
Q

OSTEOGENESIS IMPERFECTA
What is the medical management of osteogenesis imperfecta?

A
  • Vitamin D supplementation to prevent deficiency
  • Bisphosphonates (IV pamidronate) to increase bone density + reduce #
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66
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
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67
Q

RICKETS
What is the normal physiology of vitamin D?

A
  • Increases Ca2+ absorption at gut + reabsorption at kidneys + role in immunity
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68
Q

RICKETS
What are the symptoms of rickets?

A

SYMPTOMS
- pain in bones or joints
- muscle weakness
- drowsiness
- delayed walking
- frequent pathological fractures

SIGNS
- bowing of legs
- rachitic rosary (row of bead-like prominences at junction of rib + cartilage)
- reduced muscle tone
- widened wrist joints
- harrison’s groove (indentation on the chest roughly along 6th rib)

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69
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)
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70
Q

RICKETS
What would serum biochemistry show in rickets?

A
  • Low = calcium + phosphate
  • High = ALP + PTH
  • 25-hydroxyvitamin D levels deficient (<25nmol/L)
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71
Q

RICKETS
What might an XR show in rickets?

A
  • Osteopenia (radiolucent bones)
  • Cupping
  • Fraying of metaphyses
  • Widened epiphyseal plate
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72
Q

RICKETS
What is the management of rickets?

A

Prevention
- Breastfeeding women should take vitamin D supplement

1st line management
- vitamin D supplementation (1000-2000U daily)
- calcium supplementation
- phosphate supplementation

2nd line
- UVB light exposure
- orthopaedic intervention

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73
Q

COMMON BIRTHMARKS
What is a salmon patch?

A
  • ‘Stork mark’
  • Most common vascular birthmark
  • Flat red or pink patches on baby’s eyelids, neck or forehead at birth
  • Fade completely in few months
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74
Q

COMMON BIRTHMARKS
What is a cavernous haemangioma?

A
  • ‘Strawberry mark’
  • Raised marks on skin often red, F>M
  • Not present at birth, appear in first month, increase in size then shrink + disappear
  • Normally self-limiting, beware over eye + airway
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75
Q

COMMON BIRTHMARKS
What is a capillary haemangioma?

A
  • ‘Port wine stain’ = permanent, often unilateral
  • Present at birth + grows with infant, treated with laser therapy
  • Seen in Sturge-Weber syndrome (neuro Sx)
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76
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
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77
Q

NAPPY RASH
What are some risk factors for developing nappy rash?

A
  • Delayed changing of nappies
  • Diarrhoea
  • Irritant soap products + vigorous cleaning
  • PO Abx predispose to Candida
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78
Q

NAPPY RASH
What is the management of nappy rash?

A
  • Highly absorbent nappies
  • Maximise time not wearing + ensure dry before replacing nappy
  • Change nappy + clean skin ASAP
  • Water or gentle alcohol-free products to clean
  • Topical imidazole if candida
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79
Q

STEVEN-JOHNSON
What are some potential causes of Steven-Johnson syndrome?

A
  • Meds = AEDs, Abx, allopurinol, NSAIDs
  • Infections = herpes simplex, mycoplasma pneumonia, CMV, HIV
80
Q

STEVEN-JOHNSON
What is the management of Steven-Johnson syndrome?

A

1ST LINE
- withdrawal of causative agent
- hospital admission
- supportive care (IV fluids, temp regulation, wound care + nutritional support)
- analgesia
- eye care
- mouth care
- IV immunoglobin

2ND LINE
- immunosupressants (ciclosporin or cyclophosphamide)
- systemic corticosteroids
- plasmapheresis

81
Q

SCOLIOSIS
what conditions can cause scoliosis?

A

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

82
Q

TORTICOLLIS
what are the causes of congenital torticollis?

A
  • congenital muscular torticollis (CMT) = usually noticed in 1st month after birth. It causes shortening + fibrosis of sternocleidomastoid (can have palpable mass)
  • malformed cervical spine
  • spina bifida
83
Q

TORTICOLLIS
what is the management?

A

treat the cause
- muscle spasm = self resolve
- infection = antibiotics
- Congenital = physiotherapy

84
Q

OSGOOD SCHLATTERS
what is the cause?

A

repeated traction over the tibial tubercle which results in microvascular tears, fractures and inflammation

85
Q

OSGOOD SCHLATTERS
what are the risk factors?

A
  • male gender
  • age - 12-15 in boys, 8-12 in girls
  • sudden skeletal growth
  • repetitive activities such as jumping and sprinting
86
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)

87
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

88
Q

OSTEOMYELITIS
What are some risk factors?

A
  • Open #,
  • orthopaedic surgery,
  • sickle cell anaemia (Salmonella predominates),
  • immunocompromised (HIV),
89
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

90
Q

RICKETS
What are some sources of vitamin D?

A

Sunlight, fortified cereals, eggs, oily fish

91
Q

COMMON BIRTHMARKS
What is a slate grey naevi?
What are the differentials for slate grey naevi?

A
  • Mole, can be multiple present in Turner’s
  • ‘Mongolian blue spot’, disappear by 4, commonly lower back/buttocks, more common in non-Caucasian
  • Bruising + NAI so important to document
92
Q

JIA
How does macrophage activation syndrome present?

A
  • Acutely unwell with DIC,
  • febrile,
  • anaemia,
  • thrombocytopenia,
  • bleeding,
  • non-blanching rash,
  • low ESR
93
Q

JIA
What is the management of macrophage activation syndrome?

A

Life-threatening = supportive + steroids

94
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)

95
Q

RICKETS
what are the causes?

A

vitamin D deficiency

  • nutritional rickets (inadequate intake)
  • hypophosphataemic rickets (due to renal phosphate wasting)
  • calcipaenic rickets = abnormal vitamin D metabolism or resistance
96
Q

PERTHE’S DISEASE
what is the classifications system?

A

Catterall classification

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

97
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
98
Q

RETINOBLASTOMA
What is a genetic cause of retinoblastoma?
How might it present?

A
  • Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening
  • All bilateral tumours are hereditary, 20% of unilateral are
99
Q

RETINOBLASTOMA
What are some complications of retinoblastoma?

A
  • Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma
100
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
101
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
102
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
103
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
104
Q

ANAEMIA OVERVIEW
What are some causes of haemolysis?
What are some clues?

A
  • G6PD deficiency, haemoglobinopathies, hereditary spherocytosis
  • Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause
105
Q

ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias

A
  • Anaemia
  • Hepatosplenomegaly
  • Unconjugated bilirubinaemia
  • Excess urinary urobilinogen
106
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)
107
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.
108
Q

IRON DEF ANAEMIA
What are some sources of iron?
What can affect iron absorption?

A
  • Breast milk, formula, cow’s milk or weaning (cereals)
  • Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea
109
Q

IRON DEF ANAEMIA
What are the symptoms of iron deficiency anaemia?

A
  • Generic = fatigue, SOB, headaches, dizziness, palpitations
  • Young infants feed more slowly + children tire easily
110
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)
111
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
112
Q

VON WILLEBRAND DISEASE
What is the management of vWD?

A
  • Pressure applied if active bleeding
  • Minimise bleeding with desmopressin or TXA
  • Severe = plasma derived FVIII concentrate or vWF infusion
  • AVOID aspirin, NSAIDs + IM injections as can worsen bleeding
113
Q

COAGULATION DISORDERS
What are acquired disorders of coagulation?

A

Secondary to

  • Haemorrhagic disease of the newborn due to vitamin K deficiency
  • Liver disease as location of clotting factor production
  • ITP + DIC
114
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
115
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
116
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the investigations?

A
  • indirect coombe’s test show antibodies
  • antenatal USS shows hydrops fetalis
  • fetal blood sample
117
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management in utero?

A
  • transfusion of O negative packed cells cross-matched with maternal blood at 16-18 weeks
118
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

119
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
120
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
121
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)
122
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
123
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
124
Q

PATAU’S SYNDROME
What is Patau’s syndrome?

A
  • Severe physical + mental congenital abnormalities due to trisomy 13
125
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
126
Q

EDWARD’S SYNDROME
What is Edward’s syndrome?

A
  • Trisomy 18, mostly F
  • Severe psychomotor + growth retardation if survive 1st year of life
127
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
128
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
129
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
130
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
131
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
132
Q

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

A
  • GH therapy to prevent short stature
  • Oestrogen + progesterone replacement to establish 2ary sex characteristics, regulate menstrual cycle + prevent osteoporosis
  • Fertility treatment like IVF
133
Q

DUCHENNE’S
What is Duchenne’s muscular dystrophy?

A
  • X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
134
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)
135
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
136
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)
137
Q

KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?

A
  • Increased risk of breast cancer compared to other males
  • Osteoporosis
  • Diabetes
  • Anxiety + depression
138
Q

KLINEFELTER SYNDROME
What is the medical management of Klinefelter syndrome?

A
  • Monthly testosterone injections to promote sexual characteristics
  • Advanced IVF techniques for infertility
  • Breast reduction surgery for cosmesis
139
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
140
Q

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

A
  • GH to improve muscle development + body composition

- MDT = education support, social workers, psychologists/CAMHS, physio + OT

141
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
142
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
143
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
144
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
145
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)
146
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
147
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
148
Q

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

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
149
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
150
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
151
Q

PRADER-WILLI SYNDROME
What is Prader-Willi syndrome?

A
  • Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
152
Q

PUBERTY
Explain the tanner stages for…

i) breast?
ii) pubic hair?
iii) genitalia?

A

i) BI = pre-pubertal, BII = breast bud, BIII = juvenile smooth contour, BIV = areola + papilla project above breast, BV = adult
ii) PHI = none, PHII = sparse, PHIII = dark, coarser, curlier, PHIV = filling out, PHV = adult
iii) GI = pre-adolescent, GII = lengthens, GIII = growth in length + circumference, GIV = glans penis develops, GV = adult

153
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)

154
Q

PRECOCIOUS PUBERTY
What is the management of precocious puberty in females?

A
  • Full Hx, ages parents went into puberty, USS of uterus + ovaries
  • If ok = reassure
  • GnRH analogues stop puberty progressing further by suppressing pulsatile GnRH secretion until she is ready
155
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
156
Q

CAH
What is congenital adrenal hyperplasia (CAH)?

A
  • Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
  • Small minority = 11-beta-hydroxylase
157
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)
158
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)

159
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)

160
Q

CAH
What is the general management of CAH?

A
  • Lifelong glucocorticoids (HYDROCORTISONE) to suppress ACTH > normal growth
  • Lifelong mineralocorticoids (FLUDROCORTISONE) if there’s salt loss,
  • infants may need NaCl replacement
  • Additional hydrocortisone to cover illness/surgery
  • Antenatal dexamethasone controversial treatment, risks>benefits currently
161
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
162
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

163
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)
164
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
165
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

166
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)
167
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
168
Q

CRYPTORCHIDISM
What is the first line management of cryptorchidism?

A
  • If unilateral monitor as most newborns descend
  • Wait 3m then refer to paeds urologist so they’re seen by 6m
  • If bilateral needs urgent senior review within 24h
169
Q

KALLMAN SYNDROME
what is it?

A

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

170
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
171
Q

KALLMAN SYNDROME
why do you get anosmia in this condition?

A

due to a defect in the co-migration of GnRH releasing neurons and olfactory neurons that occurs during early foetal development

172
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

173
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
174
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
175
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
176
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

177
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
178
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

179
Q

PRECOCIOUS PUBERTY
What are the causes in females?

A

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

180
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)

181
Q

PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?

A

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

182
Q

HYPOGONADISM
Name the 3 types of hypogonadism?

A

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

183
Q

GONADOTROPIN DEFICIENCY
What is Hypergonadotropic hypogonadism?

A

Primary gonadal failure - Testes or ovarian failure

184
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism

A

Hypergonadotropic hypogonadism

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

185
Q

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

A

FSH/LH = high
Oestrogen/testosterone = low

186
Q

GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?

A

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

187
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

188
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

189
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism

A
  1. Kallmann’s Syndrome
  2. Tumours - craniopharyngiomas, germinomas
190
Q

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

A

FSH/LH = low
Oestrogen/testosterone = low

191
Q

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

A

neurofibromatosis
undergone radiation therapy

192
Q

PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?

A

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

193
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

194
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
195
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 (21 decks)

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