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D TO REVISE - PHASE 3A > TO REVISE PAEDS > Flashcards

TO REVISE PAEDS Flashcards

1
Q

TOF
What are some risk factors?

A
  • Rubella,
  • maternal age >40,
  • alcohol in pregnancy,
  • maternal DM
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2
Q

PNEUMONIA
What is the management of pneumonia?

A
  • Newborns = IV benzylpenicillin
  • Older = co-amoxiclav
  • erythromycin to cover for mycoplasma, chlamydia or if unresponsive
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3
Q

CYSTIC FIBROSIS
What are some signs of cystic fibrosis?

A
  • Low weight or height on growth charts
  • Hyperinflation due to air trapping
  • Coarse inspiration crepitations ± expiratory wheeze
  • Finger clubbing
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4
Q

COELIAC DISEASE
What are some complications of coeliac disease?

A
  • Anaemias
  • Osteoporosis
  • Lymphoma (EATL)
  • Hyposplenism
  • Lactose intolerance
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5
Q

CONSTIPATION
What are some causes of constipation?

A
  • Usually idiopathic
  • Meds (opiates)
  • LDs
  • Hypothyroidism
  • Hypercalcaemia
  • Poor diet (dehydration, low fibre)
  • Occasionally forceful potty training
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6
Q

CONSTIPATION
What is the medical management of constipation?

A
  1. Movicol
  2. add senna
  3. if movicol does not agree then switch to lactulose
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7
Q

GASTROENTERITIS
What are signs of clinical shock?

A
  • Pale/mottled
  • Hypotension
  • Prolonged CRT
  • Cold
  • Decreased GCS
  • Sunken fontanelle
  • Weak pulses
  • Anuria
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8
Q

HERNIA
what are the risk factors for developing a hernia?

A
  • premature, underweight babies
  • male gender
  • family history
  • medical conditions - undescended testes, CF
  • African descent
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9
Q

IBD
what is the histology of ulcerative colitis?

A
  • Increased crypt abscesses,
  • pseudopolyps,
  • ulcers
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10
Q

NEONATAL HEPATITIS
What is the management of Wilson’s disease?

A

Penicillamine for copper chelation

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11
Q

ASTHMA
What is the stepwise management of chronic asthma in <5y? (BTS guidance)

A
  • 1 = PRN SABA
  • 2 = Low dose ICS OR PO montelukast
  • 3 = Other option from 2
  • 4 = refer to specialist
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12
Q

ASTHMA
What is the stepwise management of chronic asthma >5y? (BTS guidance)

A
  • 1 = PRN SABA
  • 2 = SABA + low dose ICS
  • 3 = SABA + low dose ICS + LABA (only continue if good response)
  • 4 = increase ICS dose (?LTRA or PO theophylline)
  • 5 = PO steroids in lowest tolerated dose
  • May need immunosuppression or immunomodulation therapy with specialist referral
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13
Q

RESP PHARMACOLOGY
Give an example of a LABA

A

Salmeterol

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14
Q

ASTHMA
What are the stages of management for acute asthma of severe/life-threatening severity in children?

A
  1. High flow O2 if sats <92%
  2. Salbutamol inhaler (10 puffs every 2 hours)
  3. nebuliser with salbutamol and ipratropium bromide
  4. IV hydrocortisone
  5. IV Magnesium sulfate
  6. IV salbutamol
  7. IV aminophylline
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15
Q

FAS
How much alcohol is safe in pregnancy?
What are some features of foetal alcohol syndrome?

A
  • None
  • Microcephaly
  • Short palpebral fissures, hypoplastic upper lip, small eyes, smooth philtrum
  • LDs, poor growth + cardiac malformations
  • Can have alcohol withdrawal Sx a birth = irritable, hypotonic, tremors
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16
Q

PAEDS FLUIDS
What is used for maintenance fluids?
How are they calculated?

A
  • 0.9% NaCl + 5% dextrose + KCl 10mmol
  • 100ml/kg/day for first 10kg
  • 50ml/kg/day for next 10kg
  • 20ml/kg/day for every kg after 20kg
  • Divide by 24 = ml/hour
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17
Q

PAEDS FLUIDS
How can you calculate % dehydration?
How do you calculate fluids to correct dehydration?

A
  • (Well weight [kg] – current weight [kg]) ÷ well weight

- % dehydration x 10 x weight (kg)

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18
Q

PAEDS FLUIDS
What fluids do neonates require?
What are their intake requirements?

A
  • Day 1 = just 10% dextrose
  • From day 2 = Na (3mmol/kg/day) + K (2mmol/kg/day)
  • Day 1 = 60ml/kg/day
  • Day 2 = 90ml/kg/day
  • Day 3 = 120ml/kg/day
  • Day 4 + beyond = 150ml/kg/day
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19
Q

DEVELOPMENTAL DELAY
What are some prenatal causes of developmental delay?

A
  • Genetics (Down’s, fragile X)
  • Congenital hypothyroidism
  • Teratogens (alcohol + drug abuse)
  • Congenital infection (TORCH)
  • Neurocutaneous syndromes (tuberous sclerosis, neurofibromatosis)
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20
Q

DEVELOPMENTAL DELAY
What are some perinatal causes of developmental delay?

A
  • Extreme prematurity (intraventricular haemorrhage)
  • Birth asphyxia (HIE)
  • Hyperbilirubinaemia
  • Hypoglycaemia
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21
Q

CHILD ABUSE
what are the features of shaken baby syndrome

A

Retinal haemorrhages
Encephalopathy
Subdural haemotoma

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22
Q

PAEDIATRIC LIFE SUPPORT
If breathing stimulation fails what is the next stage of neonatal resuscitation?

A

Inflation breaths if gasping or not breathing –

  • 2 cycles of 5 inflation breaths
  • No response + HR low = 30s of ventilation breaths
  • No response, HR <60bpm = chest compressions (3:1 with ventilation breaths)
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23
Q

RDS
What are some risk factors of RDS?

A
  • Prematurity #1
  • Maternal DM
  • 2nd premature twin
  • C-section
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24
Q

NEC. ENTEROCOLITIS
What would an AXR show in necrotising enterocolitis?

A
  • Dilated loops of bowel
  • Bowel wall oedema (thickened bowel walls)
  • Pneumatosis intestinalis (intramural gas)
  • Pneumoperitoneum (free gas in peritoneum = perf)
  • Football sign = air outlining falciform ligament
  • Rigler’s sign = air both inside/outside bowel wall
  • Gas in portal veins
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25
Q

JAUNDICE
What are some risk factors for jaundice?

A
  • LBW
  • Breastfeeding
  • Prematurity
  • FHx
  • Maternal diabetes
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26
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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27
Q

TORCH
What are the characteristic features of toxoplasmosis?

A
  • Cerebral calcification, chorioretinitis + hydrocephalus
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28
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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29
Q

MECONIUM ASPIRATION
What are some risk factors for meconium aspiration?

A
  • Post-term deliveries at 42w
  • Maternal HTN or pre-eclampsia
  • Smoking or substance abuse
  • Chorioamnionitis
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30
Q

CLEFT LIP AND PALATE
What is the management of cleft lip + palate?

A
  • MDT = plastic + ENT surgeons, paeds, orthodontist, SALT
  • Cleft lip repair ≤3m
  • Cleft palate repair 6-12m
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31
Q

NEONATAL HYPOGLYCAEMIA
What are some risk factors for neonatal hypoglycaemia?

A
  • Preterm + intrauterine growth restriction (IUGR) = lack of glycogen stores
  • Maternal DM = infantile hyperinsulinaemia
  • LGA, polycythaemia or ill
  • Transient hypoglycaemia common in first hours after birth
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32
Q

LISTERIA INFECTION
what is the clinical presentation?

A

symptoms are similar to sepsis - listlessness, irritable, poor feeding
- Early onset = low birth weight, obstetric complications, evidence of sepsis soon after birth
- late onset = usually full-term, previously healthy neonates, present with meningitis/sepsis

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33
Q

LISTERIA INFECTION
what is the management?

A

ampicillin + aminoglycoside (gentamycin)

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34
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
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35
Q

PERIORBITAL CELLULITIS
what is the management?

A

Mild = oral co-amoxiclav/cefuroxime + metronidazole for 7-10 days
Moderate-severe = immediate referral to hospital + IV cefotaxime/clindamycin

can also consider incision, drainage and culture of any abscesses

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36
Q

PROTEINURIA
What are some causes of proteinuria?

A
  • Transient (febrile illness, after exercise = no investigation)
  • Nephrotic syndrome
  • HTN
  • Tubular proteinuria
  • Increased glomerular perfusion pressure
  • Reduced renal mass
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37
Q

NEPHROTIC SYNDROME
What are some complications of nephrotic syndrome?

A
  • Hypovolaemia as fluid leaks from intravascular to interstitial space
  • Thrombosis due to loss of antithrombin III
  • Infection due to leakage of immunoglobulins, weakening the immune system + exacerbated by Tx with steroids
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38
Q

HSP
What is the clinical presentation of HSP?

A
  • Palpable purpuric rash affecting extensor surfaces of lower limbs + buttocks
  • Joint pain (knees + ankles, may be swollen + painful, reduced ROM)
  • Colicky abdo pain (GI haemorrhage > haematemesis + melaena, intussusception)
  • Renal involvement (IgA nephritis > haematuria + proteinuria)
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39
Q

HSP
What are some investigations for HSP?

A
  • Exclude DDx of non-blanching rash
    – FBC + blood film (thrombocytopenia, sepsis + leukaemia), CRP, cultures, HSP = afebrile
  • Urinalysis for proteinuria + haematuria
  • PCR to quantify proteinuria
  • Renal biopsy if severe renal issues to determine if Tx
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40
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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41
Q

HAEMOLYTIC URAEMIC SYNDROME
What are some investigations for HUS?

A
  • FBC (anaemia, thrombocytopenia), fragmented blood film
  • U+Es reveal AKI
  • Stool culture
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42
Q

HYPOSPADIAS
What is the clinical presentation of hypospadias?

A
  • Ventral urethral meatus
  • Hooded prepuce
  • Chordee (ventral or downwards curvature of the penis in more severe forms)
  • Usually identified during NIPE
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43
Q

UTI
What are some risk factors for UTI?

A
  • Incomplete bladder emptying
  • Vesico-ureteric reflux
  • Structural abnormality (horseshoe kidney, ureteric strictures)
  • Inadequate toilet hygiene
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44
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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45
Q

ACUTE KIDNEY INJURY
What are some renal causes of AKI?

A
  • Vascular = HUS, vasculitis, embolus)
  • Glomerular = glomerulonephritis
  • Interstitial = interstitial nephritis, pyelonephritis
  • Tubular = acute tubular necrosis
46
Q

ACUTE KIDNEY INJURY
What are some investigations for AKI?

A
  • FBC, U+Es (high urea), high creatinine, USS to identify if obstruction
  • Can have hyperkalaemia, hyperphosphataemia + metabolic acidosis
47
Q

CHRONIC KIDNEY DISEASE
What is the management of CKD?

A
  • Diet + NG or gastrostomy feeding may be needed for normal growth
  • Phosphate restriction + activated vitamin D to prevent renal osteodystrophy
  • May need recombinant growth hormone
  • Recombinant erythropoietin to prevent anaemia
  • Dialysis + transplantation if in ESRF (GFR <15ml/min/1.73m^2)
48
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)

49
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

50
Q

NEPHROTIC SYNDROME
What is the pathophysiology of nephrotic syndrome?

A
  1. Inflammation – from immune cells (Ab’s, Ig’s - IgG), complement proteins, HTN, atherosclerosis, medications/immunisations, infection
  2. Damage to podocytes – protein leakage (albumin, Ab’s)
  3. Increased liver activity – to increase albumin, - Consequential increase in cholesterol + coagulation factors
  4. Reduced oncotic pressure – oedema - Consequential blood volume decrease, RAAS stimulation, exacerbation
51
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
52
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
53
Q

OTITIS MEDIA
Which antibiotics are used?

A

1st line = amoxicillin
alternatives = erythromycin or clarithromycin

54
Q

OTITIS MEDIA
What are the bacterial causes of otitis media?

A

S. Pneumoniae
H. Influenzae
M. Catarrhalis
S. Pyogenes

55
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)
56
Q

ALLERGY
What is an allergy?
Give examples

A
  • Hypersensitivity reaction initiated by specific immunoglobulins
  • Food allergy, eczema, allergic rhinitis, asthma, urticaria, insect sting, drugs, latex + anaphylaxis
57
Q

ALLERGY
Define hypersensitivity

A

Objectively reproducible symptoms/signs following a defined stimulus at a dose tolerated by a normal person

58
Q

IMMUNE DEFICIENCY
What are some investigations for immune deficiency?

A
  • FBC (WCC, lymphocytes, neutrophils)
  • Blood film
  • Complement
  • Immunoglobulins
59
Q

DIPHTHERIA
what is the management for close-contacts?

A

prophylactic antibiotics - erythromycin

diphtheria toxoid immunisation

60
Q

GLANDULAR FEVER
What are the complications of glandular fever?

A
  • Splenic rupture,
  • haemolytic anaemia,
  • chronic fatigue,
  • EBV associated with Burkitt’s lymphoma
61
Q

ALLERGY
Define atopy

A

Personal/familial tendency to produce IgE in response to ordinary exposures to allergens (triad = eczema, asthma + rhinitis)

62
Q

ALLERGY
Give an example of a type 2 hypersensitivity reaction

A
  • autoimmune disease,
  • haemolytic disease of newborn,
  • transfusion reaction
63
Q

ALLERGY
Give an example of a type 3 hypersensitivity reaction

A
  • SLE,
  • RA,
  • HSP,
  • post-strep glomerulonephritis
64
Q

ALLERGY
Give an example for of a type 4 hypersensitivity reaction

A
  • TB,
  • contact dermatitis
65
Q

OSTEOMYELITIS
What is the management of osteomyelitis?

A
  • IV empirical Abx (flucloxacillin or clindamycin if allergy) until sensitivities back
  • Amoxicillin, cefotaxime or ceftriaxone if <4y + suspect H. influenzae
  • ?Surgical drainage or debridement of infected bone
66
Q

OSTEOPOROSIS
What are the causes of osteoporosis?

A
  • Inherited = osteogenesis imperfecta, haematological issues
  • Acquired:
    – Drug induced (Steroids)
    – Endocrinopathies (hypoparathyroidism)
    – Malabsorption
    – Immobilisation (disabilities)
    – Inflammatory disorders
67
Q

RICKETS
What are some risk factors for rickets?

A
  • Darker skin (need more sunlight)
  • Lack of exposure to sun
  • Poor diet or malabsorption
  • CKD as kidneys metabolise vitamin D to active form
68
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)
69
Q

RICKETS
What might an XR show in rickets?

A
  • Osteopenia (radiolucent bones)
  • Cupping
  • Fraying of metaphyses
  • Widened epiphyseal plate
70
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

71
Q

TONSILLITIS

What is the management of tonsillitis?

A
  • 1st line = Phenoxymethylpenicillin
  • if penicillin allergic = erythromycin

- Tonsillectomy last resort if quinsy (in 6w), recurrent severe (≥5/year) or OSA

72
Q

INTESTINAL MALROTATION

What is the investigation + management of intestinal malrotation?

A
  • Urgent upper GI contrast study is Dx, abdo USS

- Urgent surgical correction = Ladd’s procedure rotates bowel anti-clockwise

73
Q

FUNCTIONAL DYSPEPSIA

What is the management of functional dyspepsia?

A
  • C-13 Urea breath test for H. pylori + upper GI endoscopy if Sx recur, if normal = Dx
  • Hypoallergenic diet
  • Eradicate H. pylori if suspected with triple therapy > omeprazole, amoxicillin + metronidazole or clarithromycin
74
Q

DIABETES MELLITUS

What is the physiology of insulin?

A
  • Lowers blood glucose by stimulating uptake from blood into muscle, kidney + fat cells as well as targeting the liver to convert glucose to glycogen
75
Q

DIABETIC KETOACIDOSIS

How does the body respond to ketoacidosis?

A
  • Initially, kidney produces bicarbonate to counteract but this is used up > acidotic
  • Hyperglycaemia overwhelms the kidneys + glucose starts being filtered into the urine + draws water out with it in the process (osmotic diuresis) leading to polyuria + severe dehydration, stimulating thirst centre (polydipsia)
76
Q

DIABETIC KETOACIDOSIS

What are some complications of DKA?

A
  • Cerebral oedema (neuro obs)
  • VTE
  • Hypokalaemia > arrhythmias
  • AKI
77
Q

IV HAEMORRHAGE

What is the management of intraventricular haemorrhage?

A
  • Cranial USS
  • Sx relief with removal of CSF by LP or ventricular tap
  • Ventriculoperitoneal shunt may be needed for hydrocephalus
78
Q

SIDS

What are some major risk factors for SIDS?

A
  • Baby sleeping prone
  • Parental smoking (during pregnancy or in same room)
  • LBW + prematurity
  • Sharing a bed
  • Hyperthermia (over wrapping) or head covering (blanket moving)
79
Q

NUTRITION

What are the advantages of breastfeeding?

A
  • Free
  • Helps bonding
  • Lactational amenorrhoea
  • Reduces risk of NEC in preterm infants + SIDS
  • Antibodies to protect neonate against infection
  • Reduced maternal risk of breast + ovarian cancer
80
Q

NUTRITION

What are the disadvantages of breastfeeding?

A
  • Breast milk jaundice
  • Unknown intake so ?eating adequately
  • Discomfort for mother
  • Transmission of drugs or infections to baby
  • Insufficient vitamin D + K (reason for vitamin K IM injection at birth)
81
Q

HEAD LICE

What is the management of headlice?

A
  • Dimeticone 4% or malathion 0.5% lotions, leave overnight then wash off (repeat 7d later to kill any head lice hatched since)
  • Special fine combs + wet combing (bug-busting) every 3–4d for 2w
82
Q

ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias

A
  • Anaemia
  • Hepatosplenomegaly
  • Unconjugated bilirubinaemia
  • Excess urinary urobilinogen
83
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.
84
Q

SICKLE CELL DISEASE
What is the genetics behind sickle cell disease?

A
  • Autosomal recessive
  • Abnormal gene for beta-globin on C11
  • Heterozygous = sickle-cell trait
  • Homozygous = sickle cell disease (HbSS)
85
Q

SICKLE CELL DISEASE
What are some complications of sickle cell disease?

A
  • Short stature + delayed puberty
  • Stroke + cognitive issues
  • Pulmonary HTN
  • Chronic renal failure
  • Psychosocial issues
86
Q

THALASSAEMIA
What are some investigations for beta thalassaemia?

A
  • FBC + blood film = hypochromic microcytic anaemia
  • HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major
  • Serum ferritin to differ between Fe anaemia + check iron overload
  • Hb electrophoresis for Dx
  • DNA testing via CVS before birth
87
Q

THALASSAEMIA
What is the main complication of thalassaemia?
How might this present?

A
  • Repeated + Regular blood transfusions can cause chronic iron overload
  • Heart (cardiomyopathy, heart failure)
  • Liver (cirrhosis)
  • Pancreas (diabetes)
  • Pituitary (delayed growth + sexual maturation)
  • Skin (hyperpigmentation)
  • Arthritis + joint pain
88
Q

THALASSAEMIA
What is the management of thalassaemia?

A
  • Lifelong monthly blood transfusions for the most severe cases
  • Desferrioxamine for iron chelation to prevent overload
  • Bone marrow transplant can be curative, reserved for beta thalassaemia major
89
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
90
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the complications?

A
  • kernicterus which can cause extrapyramidal, auditory and visual abnormalities and cognitive deficit
  • late-onset anaemia
  • graft-versus-host disease
  • portal vein thrombosis + portal hypertension
91
Q

ALL
What do blood and bone marrow tests show in ALL?

A

FBC and blood film = WCC usually high
Blast cells on film and in bone marrow

92
Q

AML
What would you expect to see on an FBC and bone marrow biopsy in someone you suspect to have AML?

A

FBC = anaemia and thrombocytopenia and neutropenia

BM biopsy = leukaemic blast cells (with Auer rods)

93
Q

CML
what are the investigations for CML?

A

FBC - anaemia, raised myeloid cells, high WCC (eosinophilia, basophilia, neutrophilia)
Increased B12
Blood film - left shirt, basophilia
Bone marrow biopsy - increased cellularity
Philadelphia chromosome seen in 80+% of cases  t(9;2) - Stimulates cell division

94
Q

CLL
what are the investigations for CLL?

A

● Normal or low Hb
● Raised WCC with very high lymphocytes
● Blood film – smudge cells may be seen in vitro

95
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
96
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
97
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
98
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
99
Q

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

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
100
Q

CONGENITAL HYPOTHYROIDISM
What is the clinical presentation of congenital hypothyroidism?

A
  • Prolonged neonatal jaundice
  • Delayed mental + physical milestones
  • Puffy face, macroglossia + hypotonia
  • Failure to thrive + feeding problems
  • Coarse facies + hoarse cry
101
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)

102
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)
103
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
104
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

105
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
106
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

107
Q

CAH
How does salt-losing crisis present?

A

– Vomiting, weight loss, floppiness + circulatory collapse
– Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic

108
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

109
Q

DKA
what is required to diagnose DKA?

A

Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)

110
Q

DKA
what are the principles of DKA management in children?

A
  • correct dehydration evenly over 48hrs
  • give an initial bolus followed by ongoing fluids
  • insulin should be delayed by 1-2hrs to reduce chance of cerebral oedema
  • 0.05-0.1 units/kg/hr of insulin
111
Q

DKA
what are the complications?

A

cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia

D TO REVISE - PHASE 3A (9 decks)

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