PAEDS Flashcards
(228 cards)
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
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
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
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)
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
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)
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
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
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
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
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
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
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
15
Q
HEART FAILURE
What are the causes of heart failure in infants?
A
High pulmonary blood flow (VSD, AVSD, large PDA)
16
Q
TOF
What are some risk factors?
A
- Rubella,
- maternal age >40,
- alcohol in pregnancy,
- maternal DM
17
Q
TRICUSPID ATRESIA
How is it managed?
A
Shunt between subclavian + pulmonary artery with surgery later
18
Q
CROUP
What are the investigations for croup?
A
- Clinical but if CXR done PA view shows subglottic narrowing (steeple sign)
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
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
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
22
Q
ASTHMA
What is the stepwise management of chronic asthma in <5y?
A
- 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
23
Q
ASTHMA
What is the stepwise management of chronic asthma 5-12yrs?
A
- SABA + ICS
- 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)
24
Q
CROUP
What are the causes?
A
- Parainfluenza viruses (#1), less so RSV, metapneumovirus, influenza
25
Q
CROUP
How do you assess croup severity?
A
Westley score for severity
(chest wall retractions, stridor, cyanosis, air entry + consciousness)
26
VIRAL INDUCED WHEEZE
What is the management?
1st line = PRN salbutamol
2nd line = Montelukast or ICS or both
27
PNEUMONIA
What are the common causes of pneumonia in infants + young children?
RSV most common,
pneumococcus #1 bacterial,
H. influenzae,
Bordatella pertussis,
chlamydia trachomatis
(S. aureus rarely but = serious)
28
ASTHMA
what is the management of mild-moderate exacerbations of asthma?
- 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)
29
PYLORIC STENOSIS
What is the management of pyloric stenosis?
1st line
- nil-by-mouth and NG tube insertion (to decompress stomach)
- IV fluids (rehydration + correct electrolyte imbalances)
- ramstedt pyloromyotomy (laparoscopic)
30
MECKEL'S DIVERTICULUM
What are the investigations for Meckel's diverticulum?
- Technetium scan will demonstrate increased uptake by ectopic gastric mucosa
31
CONSTIPATION
What is the medical management of constipation?
- 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
32
GASTROENTERITIS
What are some complications of gastroenteritis?
- Isonatraemic + hyponatraemic dehydration
- Hypernatraemic dehydration
- Post-infective lactose intolerance (remove lactose + slowly reintroduce)
- Guillain-Barré
- Dehydration #1 cause of death
33
BILIARY ATRESIA
What is the clinical presentation of biliary atresia?
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)
34
BILIARY ATRESIA
What is the management of biliary atresia?
1st line
- Kasai portoenterostomy
- ursodeoxycholic acid
2nd line
- liver transplant
35
NEONATAL HEPATITIS
What are 4 main causes of neonatal hepatitis?
- Congenital infection
- Alpha-1-antitrypsin (A1AT) deficiency
- Galactosaemia
- Wilson's disease
36
FAILURE TO THRIVE
How does NICE define faltering growth in children by weight?
- ≥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
37
CMPA
What are the investigations for cows milk protein allergy (CMPA)?
- IgE mediated = skin prick tests + RAST for cow's milk protein
- Gold standard if doubt = elimination diet under dietician supervision
38
CMPA
What is the management for cows milk protein allergy (CMPA)?
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
39
CHOLEDOCHAL CYST
How may it present?
- Cholestatic jaundice
- abdominal mass
- pain in RUQ
- nausea and vomiting
- fever
40
GASTROENTERITIS
what is the management for shigella infection?
severe = azithromycin or ciprofloxacin
41
BILIARY ATRESIA
What genetic mutation is biliary atresia associated with?
Associated with CFC1 gene mutations
42
NEONATAL HEPATITIS
What is the cause of A1AT deficiency?
AR on chromosome 14
43
NEONATAL HEPATITIS
What are the genetics for Wilson's disease?
AR on chromosome 13
44
GASTROENTERITIS
How is hypernatraemic dehydration managed?
Slow rehydration over 48h
45
INTUSSUSSEPTION
what are the risk factors?
- young children
- male gender
- preceding viral illness
- henoch-schonlein purpura (HSP)
- meckel's diverticulum
- lymphoma
46
HSP
What is the clinical presentation of HSP?
SYMPTOMS
- joint pain
- abdominal pain
- bloody stools
- haematuria
SIGNS
- palpable purpuric rash (typically on legs)
- joint swelling
- joint tenderness
47
HSP
What is the management of HSP?
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)
48
HAEMOLYTIC URAEMIC SYNDROME
What is haemolytic uraemic syndrome (HUS)?
- Thrombosis within small blood vessels throughout the body, usually triggered by a bacterial toxin (shiga)
49
HAEMOLYTIC URAEMIC SYNDROME
What is the classic HUS triad?
- Microangiopathic haemolytic anaemia (due to RBC destruction)
- AKI (kidneys fail to excrete waste products like urea)
- Thrombocytopenia
50
HAEMOLYTIC URAEMIC SYNDROME
What is the clinical presentation of HUS?
SYMPTOMS
- bloody diarrhoea
- fever
- abdominal pain
- vomiting
- reduced urine output
SIGNS
- dehydrated (delayed CRT, tachycardic/hypotensive, mottled skin)
- pyrexia
- pallor
51
HAEMOLYTIC URAEMIC SYNDROME
What are some investigations for HUS?
- 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
52
HAEMOLYTIC URAEMIC SYNDROME
What is the management of HUS?
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
53
UTI
In terms of performing ultrasounds scans in UTI, what are the guidelines?
- USS within 6w if 1st UTI + <6m but responds well to Tx within 48h or during illness if recurrent or atypical bacteria
54
UTI
What is the management of UTI for >3m with upper UTI?
?Admission for IV, if not PO co-amoxiclav or cefalexin for 7–10d
55
UT ABNORMALITIES
Name 6 urinary tract abnormalities
- Renal agenesis
- Multicystic dysplastic kidney
- Polycystic kidney disease
- Pelvic/horseshoe kidney
- Posterior urethral valves
- Prune-belly syndrome
56
UT ABNORMALITIES
How can posterior urethral valves present in utero?
What is a complication of posterior urethral valves?
- Oligohydramnios + potentially pulmonary hypoplasia
- Risk of dysplastic kidneys, at its worse if bilateral could lead to potter syndrome
57
UT ABNORMALITIES
What are the 2 first steps in management of urinary tract abnormalities?
How is the management split after that?
- 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
58
UT ABNORMALITIES
What is the management of bilateral hydronephrosis and/or dilated lower urinary tract in a male?
- 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
59
UT ABNORMALITIES
What is the management of unilateral hydronephrosis in male or any anomaly in female?
- Unilateral seen in pelviureteric or vesicoureteric junction obstruction
- Abnormal = further investigations
- Normal = stop Abx, repeat USS after 2-3m
60
VESICOURETERIC REFLUX
how is it graded?
graded using International Reflux Study grading system
61
NEPHROTIC SYNDROME
what can cause minimal change disease?
- NSAIDs,
- Hodgkin's lymphoma,
- infectious mononucleosis
62
UTI
What are the investigations for recurrent + atypical UTIs?
- 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)
63
UTI
What is the management of children under 3m in UTI?
ALL children <3m + fever get immediate IV cefuroxime + full septic screen (blood cultures, FBC, CRP lactate, LP etc)
64
UTI
What is the management of UTI for >3m with lower UTI?
3d PO trimethoprim, nitrofurantoin, amoxicillin or cephalosporin with follow-up if still unwell after 24-48h
65
PYELONEPHRITIS
what are the risk factors?
- 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
66
PYELONEPHRITIS
what is the management?
- empirical antibiotics (co-amoxiclav or cefalexin) then targeted based on cultures
- severe = hospitalisation and IV antibiotics
67
NOCTURNAL ENURESIS
what are the causes?
- not waking to bladder signals
- inadequate levels of vasopressin (ADH)
- overactive bladder
- constipation
- UTIs
- Family history
- Anxiety/stress
- poor bedtime routines
68
NOCTURNAL ENURESIS
what is the presentation of inadequate levels of vasopressin?
- large volumes of urine passed at night
- wet in the early part of the night
- wet more than once per night
69
NOCTURNAL ENURESIS
what is the presentation of an overactive bladder?
- 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
70
NOCTURNAL ENURESIS
what is the medical management?
- antibiotics for infection
- laxatives for constipation
- alarms
- desmopressin
- anticholinergic medications (oxybutynin + tolterodine) for detrusor relaxation
71
ALPORT SYNDROME
what is the clinical presentation?
- haematuria
- oedema
- hypertension
- loss of kidney function
- progressive hearing loss
- proteinuria
- vision problems
72
JAUNDICE
Jaundice can be split into 3 aetiological time categories.
What are these?
- <24h = always pathological, usually haemolytic disease
- 24h–2w = common
- >2w = also bad
73
JAUNDICE
What are some causes of jaundice 24h–2w after birth?
- Physiological + breast milk jaundice (common)
- Infection (UTI, sepsis)
- Haemolysis, polycythaemia, bruising
- Crigler-Najjar syndrome (rare inherited disorder with no UGT enzyme)
74
JAUNDICE
What are some causes of jaundice >2w after birth?
- Unconjugated = physiological or breast milk, UTI, hypothyroid, high GI obstruction (pyloric stenosis), Gilbert syndrome
- Conjugated (>25umol/L) = bile duct obstruction (biliary atresia), neonatal hepatitis
75
JAUNDICE
What is Gilbert's syndrome?
How does it present?
- AR deficiency of UDP-glucuronyltransferase = defective bilirubin conjugation
- Unconjugated hyperbilirubinaemia (not in urine), jaundice may only be present if ill, exercising or fasting
76
JAUNDICE
What investigations would you perform in neonatal jaundice?
- 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
77
HIE
What happens as a result of cardiorespiratory depression?
- Hypoxia, hypercarbia + metabolic acidosis
- Compromised cardiac output reduces tissue perfusion > hypoxic ischaemic injury to brain
78
HIE
What is used to stage the severity of HIE?
What are the stages?
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
79
TORCH
What are the characteristic features of toxoplasmosis?
- Cerebral calcification, chorioretinitis + hydrocephalus
80
TORCH
What is the clinical presentation of CMV?
- 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
81
TORCH
How does syphilis present?
- Rash on soles of feet + hands
- Hutchinson's triad = keratitis, deafness, small + pointed teeth
82
BRONCHOPULMONARY DYSPLASIA
How can bronchopulmonary dysplasia be prevented?
- Corticosteroids to mothers in premature labour <34w
- CPAP rather than intubation where possible
- Use caffeine to stimulate resp effort
- Do not over oxygenate
83
GROUP B STREP INFECTION?
what is the management?
- IV antibiotics (IV benzylpenicillin with gentamicin)
- NICU admission
84
PREMATURITY
What are some neuro complications of prematurity?
- Cerebral palsy,
- hearing/visual impairment,
- intraventricular haemorrhage
85
PREMATURITY
What are some metabolic complications of prematurity?
- Hypoglycaemia,
- hypocalcaemia,
- electrolyte imbalance,
- fluid imbalance
- hypothermia
86
JAUNDICE
How does kernicterus present?
What are the outcomes?
- Lethargy, poor feeding > hypertonia, seizures + coma
- Permanent damage = dyskinetic cerebral palsy, LD + deafness
87
TORCH
How is syphillis managed?
- If fully treated ≥1m before delivery = no treatment
- Any doubts = benzylpenicillin
88
LISTERIA INFECTION
what is the management?
ampicillin + aminoglycoside (gentamycin)
89
SIDS
what are the risk factors?
- 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
90
SIDS
what are protective factors?
- breastfeeding
- room sharing
- use of dummies
91
SIDS
what measures can be taken to reduce the risk of SIDS?
- 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
92
CONGENITAL HYPOTHYROIDISM
what are the causes?
- primary congenital hypothyroidism
- thyroid dysgenesis
- dyshormonogenesis
- secondary or central congenital hypothyroidism
93
CONGENITAL HYPOTHYROIDISM
what are the risk factors?
- medication use during pregnancy
- maternal advanced age
- family history of thyroid disease
- low birth weight
- preterm birth
- multiple pregnancies
94
CONGENITAL HYPOTHYROIDISM
what are the clinical features?
- prolonged neonatal jaundice
- poor feeding + weight gain
- hypothermia
- macroglossia
- large fontanelle
- distended abdomen with umbilical hernia
- dry skin
- hoarse cry
- myxoedema
- bradycardia
95
CEREBRAL PALSY
What are some early features of cerebral palsy?
- 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
CEREBRAL PALSY
What are the stages of the Gross Motor Function Classification System?
- I = walks without limitation
- II = with limitation
- III = handheld mobility device
- IV = III with limitation
- V = wheelchair
97
HEARING
What are some risk factors for conductive hearing loss?
- Down's syndrome,
- craniofacial syndromes
- cleft palate
98
HEARING
What testing might be done in children 6–9m?
- Distraction testing
- Relies on baby locating + turning appropriately to high + low frequency sounds out of field of vision
- 2x trained staff
99
HEARING
What testing might be done in children 10–18m?
- 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
HEARING
What hearing tests are done at...
i) >2y?
ii) >2.5y?
iii) 4y?
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
HEARING
What does Rinne's test show you?
- Normal = louder at EAM
- Conductive = louder on mastoid
- Sensorineural = both decreased
102
HEARING
What does Weber's test show you?
- Normal = vibrations equal in both ears
- Conductive = louder in abnormal ear
- Sensorineural = louder in normal ear
103
EPILEPSY
What are 4 epilepsy syndromes seen in children?
- 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
EPILEPSY
What are the 3 components to infantile spasms?
- 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
EPILEPSY
What is Lennox-Gastaut syndrome?
How does it present?
Management?
- 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
EPILEPSY
Who is juvenile myoclonic epilepsy more common in?
How does it present?
Management?
- Teens, F>M
- Infrequent generalised seizures (often morning), daytime absences, sudden shock-like myoclonic seizures (can happen before seizures)
- Good response to valproate
107
EPILEPSY
What is the management of generalised seizures?
- 1st line = sodium valproate
- 2nd line = lamotrigine, carbamazepine (TC), clonazepam (myoclonic)
108
EPILEPSY
What is the management of focal seizures?
- 1st line = carbamazepine or lamotrigine
- 2nd line = levetiracetam or sodium valproate
109
EPILEPSY
What is the management of absence seizures?
- Ethosuximide or sodium valproate
110
NEUROFIBROMATOSIS
What is the clinical presentation of neurofibromatosis 1?
- 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
NEUROFIBROMATOSIS
What is the clinical presentation of neurofibromatosis 2?
- Hearing problems with no skin involvement
- Bilateral vestibular schwannomas > sensorineural hearing loss then tinnitus + vertigo
112
TUBEROUS SCLEROSIS
What are the cutaneous features of tuberous sclerosis?
- 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
TUBEROUS SCLEROSIS
What are some other features of tuberous sclerosis?
- Neuro = epilepsy (infantile spasms or partial), developmental delay + intellectual impairment
- Retinal hamartomas,
- polycystic kidneys,
- rhabdomyomata of heart
114
EPILEPSY
What is the management of infantile spasms?
Vigabatrin or corticosteroids (poor prognosis)
115
EPILEPSY
What is the management of myoclonic seizures?
- 1st line = sodium valproate
- 2nd line = clonazepam
116
'FUNNY TURNS'
What are the investigations for reflex anoxic seizures?
- Ocular compression under controlled conditions often lead to asystole
- paroxysmal slow-wave discharge on EEG
117
DEVELOPMENTAL DELAY
what are the referral points?
- doesn't smile at 10 weeks
- cannot sit unsupported at 12 months
- cannot walk at 18 months
118
MENINGITIS
What are the most common causes of bacterial meningitis?
- 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
KAWASAKI DISEASE
What is the diagnostic criteria for Kawasaki disease?
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
MEASLES
What is the clinical presentation of measles?
- 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
MEASLES
What are some important complications of measles?
- 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
RUBELLA
What is the clinical presentation of rubella?
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
RUBELLA
What are some complications of rubella?
How can it be reduced?
- Rare but > encephalitis, arthritis, myocarditis + thrombocytopenia
- Congenital rubella syndrome > cataracts, CHD + sensorineural deafness
- Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated
124
MUMPS
What are some complications of mumps?
- Viral meningitis + encephalitis
- Orchitis (usually unilateral, may reduce sperm count + lead to infertility)
- Pancreatitis
125
SCARLET FEVER
What is the clinical presentation of scarlet fever?
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
SCARLET FEVER
What is the management of scarlet fever?
- Notifiable disease
- Phenoxymethylpenicillin for 10d to prevent rheumatic fever
- Supportive (fluids, pain relief)
- School exclusion until 24h after Abx
127
SLAPPED CHEEK
What is slapped cheek syndrome, or erythema infectiosum?
- Caused by parvovirus B19, outbreaks common during spring months
128
SLAPPED CHEEK
What is the clinical presentation of slapped cheek syndrome?
- 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
SLAPPED CHEEK
What are some complications of slapped cheek syndrome?
- 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
VACCINATIONS
What vaccines are attenuated?
- MMR, BCG, nasal flu, rotavirus + Men B
131
VACCINATIONS
What vaccines are given at...
i) 2m?
ii) 3m?
iii) 4m?
i) 6-in-one, rotavirus + men B
ii) 6-in-one, rotavirus + PCV
iii) 6-in-one, men B
132
VACCINATIONS
What vaccines are given at...
i) 1y?
ii) 3y + 4m?
iii) 12-13y?
iv) 14y?
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
POLIO
what is the clinical presentation?
90-95% of cases are asymptomatic
fatigue
fever
nausea and vomiting
diarrhoea
sore throat
headache
photophobia
134
POLIO
what are the clinical features of a more serious polio infection?
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
DIPHTHERIA
what is the management?
- hospitalisation, isolation
- diphtheria anti-toxin
- IM penicillin
136
DIPHTHERIA
what is the management for close-contacts?
prophylactic antibiotics - erythromycin
diphtheria toxoid immunisation
137
SCARLET FEVER
What are some complications of scarlet fever?
- Otitis media (#1),
- quinsy,
- post-strep glomerulonephritis,
- rheumatic fever
138
VACCINATIONS
Which vaccines are included in the 6-in-1 injection?
- diphtheria
- tetanus
- pertussis DTaP (whooping cough)
- polio IPV
- Haemophilus influenza B (HiB)
- Hepatitis B
139
JIA
What are the XR features of JIA?
Same as RA (LESS) –
- Loss of joint space
- Erosions (causing joint deformity)
- Soft tissue swelling
- Soft bones (osteopenia)
140
JIA
What are some complications from JIA?
- Chronic anterior uveitis > severe visual impairment
- Flexion contractures of joints
- Growth failure + constitutional problems like delayed puberty
- Osteoporosis
141
RICKETS
What are some risk factors for rickets?
- 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
RICKETS
What are some bone deformities seen in rickets?
- 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
RICKETS
What might an XR show in rickets?
- Osteopenia (radiolucent bones)
- Cupping
- Fraying of metaphyses
- Widened epiphyseal plate
144
NAPPY RASH
How do you differentiate between irritant dermatitis and candida dermatitis?
- 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
SCOLIOSIS
what conditions can cause scoliosis?
cerebral palsy
muscular dystrophy
birth defects
infections
tumours
marfan syndrome
down syndrome
146
SEPTIC ARTHRITIS
What are common causes in...
i) infants?
ii) <4y?
iii) >4y?
i) GBS, S. aureus, coliforms
ii) S. aureus, pneumococcus, haemophilus
iii) S. aureus, gonococcus (adolescents)
147
SEPTIC ARTHRITIS
what is the criteria for diagnosing septic arthritis?
Kocher's modified criteria /5, ≥3 is likely
–Temp>38.5
– Raised CRP/ESR/WCC
– Non-weight bearing
148
OSTEOGENESIS IMPERFECTA
What is the pathophysiology?
Defects in type 1 collagen protein which is essential for the structure + function of bone, as well as skin, tendons + other connective tissues
149
STEVEN-JOHNSON
what are the investigations?
- 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
PERTHE'S DISEASE
what is the classifications system?
Catterall classification
defines severity based on epiphyseal involvement on AP and lateral x-rays
151
NEUROBLASTOMA
What are the investigations for neuroblastoma?
- Raised urinary catecholamine levels
- CT/MRI + confirmatory biopsy
- Evidence of metastatic disease = bone marrow sampling, MIBG scan ± bone scan
152
FANCONI SYNDROME
What is fanconi syndrome?
- 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
FANCONI SYNDROME
What are some causes of fanconi syndrome?
- Usually secondary to inborn errors of metabolism
– Cystinosis (AR > intracellular accumulation of cysteine, most common)
– Wilson's disease, galactosaemia, glycogen storage disorders
154
ANAEMIA OVERVIEW
What is anaemia?
How is it defined in paeds?
- Hb level below the normal range
- Neonate = <14g/dL
- 1–12m = <10g/dL
- 1–12y = <11g/dL
155
ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?
- Ineffective erythropoiesis (Fe, folate deficiency, CKD)
- Red cell aplasia
- Normal reticulocytes, abnormal MCV in nutrient deficiencies
156
ANAEMIA OVERVIEW
What are some causes of anaemia in the neonate?
- 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
ANAEMIA OVERVIEW
What are the main causes of anaemia of prematurity?
- Inadequate erythropoietin production
- Reduced red cell lifespan
- Frequent blood sampling whilst in hospital
- Iron + folic acid deficiency after 2-3m.
158
VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?
- 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
VON WILLEBRAND DISEASE
What are some investigations for vWD?
- 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
COAGULATION DISORDERS
What can cause vitamin K deficiency?
- Inadequate intake = neonates, long-term chronic illness
- Malabsorption = coeliac, cystic fibrosis
- Vitamin K antagonists = warfarin
161
HAEMOLYTIC DISEASE OF THE NEWBORN
what is the clinical presentation?
- 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
HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management after delivery?
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
GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example
- 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
GENETICS OVERVIEW
Explain the process of gonadal mosaicism
- 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
DOWN'S SYNDROME
What is the classical craniofacial appearance in Down's syndrome?
- 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
DOWN'S SYNDROME
Other than craniofacial anomalies, what other anomalies can be seen in Down's syndrome?
- Widely separated first + second toe (sandal gap)
- Hypotonia
- Single transverse palmar (simian) crease
167
DOWN'S SYNDROME
What are some complications of Down's syndrome?
- 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
PATAU'S SYNDROME
What are some clinical features of Patau's syndrome?
- Microcephalic, scalp lesions, small eyes + other eye defects
- Cleft lip + palate
- Polydactyly (think 13 fingers)
- Cardiac + renal malformations
169
EDWARD'S SYNDROME
What is the clinical presentation of Edward's syndrome?
- Prominent occiput
- Small mouth + chin (micrognathia)
- Low set ears
- Flexed, overlapping fingers
- Rocker-bottom feet (flat)
- Cardiac + renal malformations
170
FRAGILE X SYNDROME
What are some cognitive features of fragile X syndrome?
- Intellectual disability
- Delay speech + language
- Delayed motor development (may be secondary to hypotonia)
- Aggressive, hyperactive + poor impulse control
- "Cocktail personality" = happy bouncy children
171
FRAGILE X SYNDROME
What are some physical features of fragile X syndrome?
- Long narrow face + large ears
- Large testicles after puberty
- Hypermobile joints (esp. hands)
- Hypersensitivity to stimuli
172
TURNER'S SYNDROME
What is the clinical presentation of Turner's syndrome?
- Short stature, webbed neck, shield chest + widely spaced nipples (classic)
- Delayed puberty, underdeveloped ovaries > primary amenorrhoea + infertility
- Cubitus valgus
173
TURNER'S SYNDROME
What are some complications of Turner's syndrome?
- 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
DUCHENNE'S
What is Duchenne's muscular dystrophy?
- X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
175
DUCHENNE'S
What is the clinical presentation of Duchenne's muscular dystrophy?
- Proximal muscle weakness from 5y
- Delayed milestones
- Waddling gait
- Gower sign +ve
- Calf pseudohypertrophy (replaced by fat + fibrous tissue)
176
KLINEFELTER SYNDROME
What is Klinefelter syndrome?
- 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
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KLINEFELTER SYNDROME
What is the clinical presentation of Klinefelter syndrome?
- 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
KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?
- Increased risk of breast cancer compared to other males
- Osteoporosis
- Diabetes
- Anxiety + depression
179
PRADER-WILLI SYNDROME
What is the clinical presentation of Prader-Willi syndrome?
- Constant, insatiable hunger > hyperphagia + obesity
- Initially failure to thrive due to hypotonia
- Small genitalia, hypogonadism + infertility
- Narrow forehead, almond eyes, strabismus
- LDs, MH issues
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ANGELMAN'S SYNDROME
What is Angelman's syndrome?
What is it caused by?
- Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
- Loss of function of maternal UBE3A gene
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ANGELMAN'S SYNDROME
What is the clinical presentation of Angelman's syndrome?
- "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
NOONAN'S SYNDROME
What is Noonan's syndrome?
- Autosomal dominant condition with defect on chromosome 12, normal karyotype
183
NOONAN'S SYNDROME
What is the clinical presentation of Noonan's syndrome?
- 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
NOONAN'S SYNDROME
What are some complications of Noonan's syndrome?
- CHD = pulmonary valve stenosis
- Cryptorchidism which can lead to infertility (fertility in women normal)
- LDs, bleeding disorders (XI deficient)
185
WILLIAM'S SYNDROME
What is William's syndrome?
- Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
186
WILLIAM'S SYNDROME
What is the clinical presentation of William's syndrome?
- 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
WILLIAM'S SYNDROME
What are some complications of William's syndrome?
- Supravalvular aortic stenosis
- ADHD
- HTN + hypercalcaemia
188
GENETICS OVERVIEW
What is non-disjunction?
What is the outcome?
Management?
Karyotype?
- 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
GENETICS OVERVIEW
What is Robertsonian translocation?
Karyotype?
- Extra copy of one chromosome is joined onto another chromosome
- 46 chromosomes but 3 copies of one chromosomes material
190
PRADER-WILLI SYNDROME
What is Prader-Willi syndrome?
- Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
191
PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of central precocious puberty?
Pathophysiology: LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal +
Causes:
- Familial,
- hypothyroidism,
- CNS (neurofibroma, tuberous sclerosis)
192
PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?
- 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
CAH
What is congenital adrenal hyperplasia (CAH)?
- Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
- Small minority = 11-beta-hydroxylase
194
CAH
What is the pathophysiology of CAH?
- 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
CAH
What is the clinical presentation of CAH in females?
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
CAH
What are some investigations for CAH?
- 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
SEXUAL DIFFERENTIATION
How does a male foetus produce male sexual characteristics?
- Leydig cells produce testosterone causing Wolffian duct differentiation > vas, epididymis, seminal vesicles
- Later, dihydrotestosterone leads to virilised external genitalia
198
SEXUAL DIFFERENTIATION
What is the process of female sexual differentiation?
- No SRY gene present so no AMH
| - Mullerian duct persists which develops into ovaries + female genitalia
199
DELAYED PUBERTY
What are some causes of hypogonadotropic hypogonadism?
- 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
DELAYED PUBERTY
What are some causes of hypergonadotropic hypogonadism?
- Chromosomal abnormalities (Turner's XO, Klinefelter's 47XXY)
- Acquired gonadal damage (post-surgery, chemo/radio, torsion)
- Congenital absence of the testes or ovaries
201
DELAYED PUBERTY
In delayed puberty, what are some causes of...
i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?
i) Turner's, Prader-Willi + Noonan's
ii) PCOS, androgen insensitivity, Kallmann's + Klinefelter's
202
DELAYED PUBERTY
What are some investigations for delayed puberty?
- 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
DELAYED PUBERTY
What is the management of delayed puberty?
- 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
KALLMAN SYNDROME
what is it?
genetic disorder that can be inherited via autosomal dominant, autosomal recessive and x-linked
205
KALLMAN SYNDROME
what are the clinical features?
- hypogonadotropic hypogonadism
- anosmia
- synkinesia (mirror-image movements)
- renal agenesis
- visual problems
- craniofacial anomalies
206
ANDROGEN INSENSITIVITY SYNDROME
what is it?
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
ANDROGEN INSENSITIVITY SYNDROME
what is complete AIS?
- 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
ANDROGEN INSENSITIVITY SYNDROME
what is partial AIS?
- 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
ANDROGEN INSENSITIVITY SYNDROME
what is true hermaphroditism?
- 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
ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?
x-linked recessive
211
ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?
- raised LH
- normal/raised FSH
- normal/raised testosterone
- raised oestrogen
212
FRAGILE X SYNDROME
What causes it?
Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X
213
PRECOCIOUS PUBERTY
What are the causes in females?
More common in girls, usually idiopathic or familial, occasionally late presenting CAH
214
PRECOCIOUS PUBERTY
What are the causes in males?
Less common, more worrying
– Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
– CAH or adrenal tumour (small testes)
– Gonadal tumour (unilateral testicular enlargement)
215
PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?
McCune Albright syndrome (café-au-lait, short stature)
216
HYPOGONADISM
Name the 3 types of hypogonadism?
Primary = hypergonadotropic hypogonadism
Secondary = hypogonadotropic hypogonadism
Tertiary = hypogonadotropic hypogonadism
217
GONADOTROPIN DEFICIENCY
What is Hypergonadotropic hypogonadism?
Primary gonadal failure - Testes or ovarian failure
218
GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism
Hypergonadotropic hypogonadism
Klinefelter’s Syndrome (47XXY)
Tuner’s Syndrome (45X)
219
GONADOTROPIN DEFICIENCY
What is the effect of Hypergonadotropic hypogonadism on FSH/LH and oestrogen/testosterone levels?
FSH/LH = high
Oestrogen/testosterone = low
220
GONADOTROPIN DEFICIENCY
What is Hypogonadotropic hypogonadism?
Secondary gonadal failure = problem with pituitary
OR
Tertiary gonadal failure = Problem with hypothalamus
221
GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of secondary hypogonadism
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
GONADOTROPIN DEFICIENCY
Briefly describe the mechanism of tertiary hypogonadism
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
GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism
1. Kallmann’s Syndrome
2. Tumours - craniopharyngiomas, germinomas
224
GONADOTROPIN DEFICIENCY
What is the effect of hypogonadotropic hypogonadism on FSH/LH and oestrogen/testosterone levels?
FSH/LH = low
Oestrogen/testosterone = low
225
HYPOTHALAMIC TUMOURS
what are the risk factors for developing hypothalamic tumours?
neurofibromatosis
undergone radiation therapy
226
PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?
Causes:
– Adrenal (tumours, CAH)
– Granulosa cell tumour (ovary)
– Leydig cell tumour (testicular)
227
CAH
What is the management of salt-losing crisis?
IV 0.9% NaCl + dextrose,
IV hydrocortisone
228
OBESITY
what are the causes of obesity in children other than lifestyle factors?
- growth hormone deficiency
- hypothyroidism
- Down's syndrome
- Cushing's syndrome
- Prader-Willi syndrome
229
CAH
what is the clinical presentation in males?
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
