Paeds 2 - GU/Neuro/Endocrine/Haem etc Flashcards
1
Q
what are 5 clinical features a urinary tract anomaly might present with?
A
UTI recurrent abdo pain palpable mass haematuria failure to thrive
2
Q
how are urinary tract anomalies usually diagnosed?
A
antenatal USS - good as allows early treatment to avoid progressive renal damage
3
Q
list some of the key urinary tract anomalies
A
- renal agenesis
- kidney dysplasia (MCDK)
- PKD (polycystic kidney disease - both autosomal recessive and dominant)
- tuberous sclerosis
- pelvic/horseshoe kidney
- duplex kidney
- bladder extrophy
- absent musculature syndrome
- obstructions - e.g. congenital hydronephrosis
4
Q
what is renal agenesis and what does it result in?
A
absence of both kidneys –> Potter syndrome, in which oligohydramnios (due to lack of foetal urine) is associated with lung hypoplasia and postural deformities)
5
Q
what is MCDK?
A
multicystic dysplastic kidney - failure of the union of the ureteric bud with the nephrogenic mesenchyme - kidney is non-functioning, with large fluid filled cysts, no renal tissue and no connection to bladder.
Potters syndrome if bilateral.
if unilateral - they’re fine, got a spare!
6
Q
what are the main cystic kidney anomalies and how do they affect a patient?
A
autosomal recessive and autosomal dominant polycystic kidney disease
tuberous sclerosis
some/normal kidney function maintained (but always affects both kidneys).
hypertension and haematuria in kids, renal failure in adults.
7
Q
what is pelvic/horseshoe kidney?
A
abnormal caudal migration, so lower poles of each kidney are fused in midline.
abnormal position means increased risk of infection/obstruction.
8
Q
what is a duplex system (urinary tract anomaly)?
A
premature division of ureteric bud - varies in the extent, might have a bifid renal pelvis, might have complete division with two separate ureters (from one kidney).
lower pole ureter often refluxes, upper pole ureter often ectopic (draining into urethra or vagina).
9
Q
where are the main sites for obstructive lesions of the urinary tract (in babies)?
A
pelviureteric (PU) junction
vesicoureteric (VU) junction
bladder
urethra
10
Q
if an obstructive lesion of the urinary tract isn’t picked up antenatally, how might it present?
A
UTI
abdo/loin pain
haematuria
palpable bladder or kidney
11
Q
what causes congenital hydronephrosis?
A
a pelviureteric obstruction - by a narrow lumen or compression by fibrous band or blood vessel, can vary from partial –> almost complete obstruction
mild obstruction can resolve spontaneously but if severe need surgery with conservation of renal tissue where possible
12
Q
what causes vesicoureteric obstruction?
A
stenosis, kinking or dilatation of lower part of ureter.
may be unilateral or bilateral.
there’s a combo of hydroureter and hydronephrosis.
13
Q
what is primary vesicoureteric reflux and what causes it?
A
reflux of urine from bladder into ureter (or if severe, all the way back to kidneys).
due to developmental anomaly of vesicoureteric junction where ureters enter directly into bladder instead of at an angle, and the bit of ureter in bladder is abnormally short.
during voiding, urine goes back up the ureter - risk of infection, hits kidneys with bacteria and high pressure.
14
Q
what are the clinical features of vesicoureteric reflux?
A
associated w/ other GU anomalies, may be secondary to bladder pathology.
- get lots of UTIs
- when they get UTI, it’s severe ± pyelonephritis
- reflux nephropathy = destruction of renal tissue because of infection and back pressure - can get hypertension and renal failure
15
Q
how is vesicoureteric reflux diagnosed?
A
MCUG - micturating cystourethrogram
16
Q
how is vesicoureteric reflux managed?
A
if mild - resolves spontaneously, but prophylactic trimethoprim until child is infection-free, normal bladder control and >5 years.
if severe or prophylaxis fails = surgery.
investigate siblings!
17
Q
what is phimosis and how is it treated?
A
adhesion of foreskin to glans penis after age 3 years.
mild = daily stretching routine (retraction)
some say topical corticosteroids may help.
circumcision if not.
18
Q
what is a hypospadia and how is it treated?
A
abnormal position of external urethral meatus on the ventral penis - causes difficulty urinating while standing / cosmetic.
surgery, use foreskin for repair preschool.
19
Q
what pathogens typically cause UTIs in children?
A
mostly E. coli (from bowel flora).
also - Proteus, Klebsiella, Pseudomona and Enterococcus
20
Q
what is the most common predisposing factor to UTI in children?
A
urinary stasis (lack of flow) due to:
- vesicoureteric reflux
- obstructive uropathy (ureterocele, urethral valves)
- neuropathic bladder (spina bifida)
- habitual infrequent voiding
up to 50% of kids with UTI will have underlying structural anomaly!
21
Q
how does UTI present in neonates/very young infants?
A
might see jaundice.
septicaemia develops quickly - leading to shock and hypotension.
22
Q
how does UTI present in infants?
A
non-specific symptoms
fever (but can have without), diarrhoea, vomiting, lethargy/irritability, failure to thrive/poor feeding, jaundice, sepsis etc
may see febrile convulsions if over 6 months old.
23
Q
how does UTI present in a young child (1-5yrs)?
A
dysuria and frequency, nocturnal enuresis, fever, malaise, abdo pain. may see febrile convulsions.
DDx - balanitis / vulvovaginitis
24
Q
how does UTI present in a child (>5yrs)?
A
classic cystitis features - frequency, dysuria, fever, enuresis
or pyelonephritis features - fever and loin pain. if <6y may see febrile convulsions.
NB - asymptomatic bacteruria common in school-age girls, don’t bother treating.
25
how should urine samples be collected from kids?
need a CLEAN CATCH - can use catheter/suprapubic aspiration if seriously ill.
bag sometimes used - not useful really as usually contaminated.
MSU can be used for older kids.
for young kids/infants basically parents have to sit around with nappy off and try and catch in a cup!
26
how should you investigate a child with suspected UTI?
send off urine sample for MC+S
controversial to follow up investigate for cause of UTI - moving towards only kids with recurrent/atypical UTI - for them do:
renal and urinary tract USS
±
MCUG (micturating cystourethrogram) - for vesicoureteric reflux
DMSA (static radioisotope scan) - looks for renal scarring
27
how would you manage a child under three months with a UTI?
needs hospital admission and IV abx e.g. ampicillin plus gentomycin/cefuroxime
28
how would you manage a child systemically unwell with a UTI, with signs of pyelonephritis and high fever (38+)?
IV abx e.g. ampicillin plus gentomycin/cefuroxime for 7-10 days
(might be able to give orally/switch to oral)
29
how would you manage a child with a UTI, no signs of pyelonephritis, not seriously unwell?
oral abx for 3 days - trimethoprim can be used
30
what advice might you give to prevent recurrence of UTI in a child?
lots of fluids, regular voiding, ensure complete emptying (double micturition), treat constipation, good perineal hygiene, probiotics
31
what is enuresis, how is it classified into different types?
defined as involuntary discharge of urine at an age when continence has been reached by most children (5y for girls, 6y for boys).
split into primary and secondary - primary when child has never been continent for a period of 3+ months.
nocturnal vs diurnal - nocturnal only at night, diurnal during day.
32
what might cause daytime enuresis?
```
lack of attention to bladder sensation (developmental or psychogenic)
detrusor instability
bladder neck weakness
neuropathic bladder
UTI
constipation
ectopic ureter (constant dribble)
```
33
how would you investigate and manage a child brought into general paeds clinic due to daytime enuresis?
examine and take sample for MC+S, consider USS.
use of star charts, bladder training, pelvic floor exercises.
might use moisture activated alarm with a pad, placed in pants - activated by urine, useful if there's a lack of attention to bladder sensation.
last resort - oxybutynin (anticholinergic)
34
list some organic causes of nocturnal enuresis
```
UTI
polyuria due to DM/chronic renal failure
neuropathic bladder
genital abnormalities
faecal retention causing bladder neck dysfunction
```
35
what must you be aware of if a child presents with secondary nocturnal enuresis?
it can be due to emotional/stress causes - beware of neglect/abuse
36
what must be included in an examination and investigation of a child presenting with enuresis?
review growth, measure BP to identify renal failure.
careful abdo palpation to exclude enlarged bladder
inspect genitalia.
inspect spine and overlying skin for deformity, hairy patch, sinus - examine lower limb neurology thoroughly.
urine sample - urinalysis (proteinuria and glycosuria), MC+S.
37
describe some general measures that can be used to help manage a child presenting with nocturnal enuresis
reassure, explain how bladder works. discourage parental intolerance. identify 'functional payoffs' e.g. gets to sleep in parents bed after bed-wetting - stop doing this.
diary of wetting for at least 4 weeks.
star charts and praise etc.
use of pad alarm if not improving and over 7y - requires a lot of compliance and motivation but can be quite effective.
38
how would nocturnal enuresis be pharmacologically managed?
last resort!!
desmopressin - synthetic analogie of anti-diuretic hormone - effective short-term relief, but most don't stay dry once it's stopped.
oxybutynin used to same effect as well.
39
what is the most common cause of acute paediatric renal failure and what organism is it associated with?
HUS - haemolytic uraemic syndrome
E. coli (specific strain) - produces a verocytotoxin (Shiga toxin)
40
briefly explain the pathology of HUS
diarrhoea - infected with E coli that produces Shiga toxin - this floats around body, causing damage to endothelial layers, mostly in renal, GI and central nervous systems.
thrombin and fibrin are deposited in vasculature early on.
RBCs get damaged trying to squeeze through narrow vessels - haemolysis.
41
how is HUS managed?
supportive - 90% of kids will recover full renal function.
| abx contraindicated.
42
what is the triad associated with HUS?
- microangiopathic haemolytic anaemia (Coombes' test negative)
- thrombocytopaenia
- AKI
*NB - notifiable disease*
43
how does HUS classically present?
hx of profuse diarrhoea that turned bloody after a few (1-3) days.
then abdo pain, fever and vomiting.
have proteinuria and haematuria
44
what investigations would you do if you suspected HUS?
urinalysis - proteinuria or haematuria
FBC and film - haemolyisis, anaemia and thrombocytopaenia
Renal function and electrolytes - failing kidneys with haemolysis and thrombocytopaenia = early onset of HUS
Lactate dehydrogenase = high LDH is an early sign of HUS
Stool culture
LFTs/CRP/clotting screen
45
what might indicate a child is going into AKI?
rapid rise of creatinine or oligouria/anuria
46
list some common causes of AKI in children in the developed vs developing world
developed - secondary to cardiac surgery, bone marrow transplant, drug toxicity (NSAIDs, aminoglycosides, vancomycin), sepsis
developing - diarrhoea/dehydration, glomerulonephritis, HUS
47
what investigations would you do if you think a child has gone into AKI?
```
blood chemistry (raised K+, creatinine, phosphate, lowered calcium, sodium, chlorine).
MSU - check for red casts (glomerulonephritis)
abdominal USS - any structural/surgical causes
```
48
how do you manage a child in AKI?
get paeds nephro team in ASAP!
treat shock and dehydration - oliguria will hopefully resolve with rehydration, try a diuretic as well if note (furosemide).
monitor BP (might be hypertensive)
monitor ECG (potassium levels, DON'T GIVE POTASSIUM)
haemofiltration (usually preferred over dialysis)
49
give some causes of chronic renal failure in kids
```
congenital dysplastic kidneys
pyelonephritis
glomerulonephritis
recurrent infection
reflux nephropathy
AKI leading to cortical necrosis
```
50
what are the clinical features of chronic renal failure in a child?
weak, tired, vomiting, haedache, restless, twitching, hypertensive retinopathy, anaemia, failure to thrive, seizures, coma
51
how is chronic renal failure managed in children?
dialysis/haemofiltration
be aware of - nutrition (get dietician's help), acidosis, renal osteodystrophy (disease involving poor mineralization due to renal failure, bit like rickets - pain, deformity etc), anaemia
52
what are the characteristic features of nephritic syndrome?
- fluid retention (oedema, puffy face)
- hypertension
- haematuria
- proteinuria
53
what causes most cases of nephritic syndrome? give some less common causes too
most cases are post-infectious - follow strep throat or skin infection with Group A beta-haemolytic strep.
others - HSP, IgA nephropathy, SLE, mesangiocapillary glomerulonephritis, Alport syndrome
54
how does nephritic syndrome present?
cloudy/smoky urine due to proteinuria + haematuria. may have progressed to oligouria.
oedema and raised BP on examination
55
how is nephritic syndrome diagnosed?
urinalysis = blood and protein
microscopy of urine = red cells and casts.
other Ix's - assess renal function via bloods. might do abdo XR or US to exclude causes of haematuria.
throat swab, anti-DNAse B, complement C3 levels and biopsy - all to assess cause.
56
what features in a question would make you think of nephritic syndrome?
about 7 years old, haematuria and oliguria, raised BP, periorbital oedema, post streptococcal infection
57
how do you manage a kid with nephritic syndrome?
- control fluid and electrolyte balance by monitoring intake and output
- use of diuretics and antihypertensives as needed
- generally good prognosis (esp. if post strep)
rarely you will get a rapidly progressing glomerulonephritis with renal failure.
58
how does HSP present?
palpable purpura - small red/purple spots on extensor surfaces of legs/arms/buttocks - rash develops over several days
GI disturbance (in 50% patients) - colicky abdo pain, melena
arthritis (75% of patients)
glomerulonephritis (50% of patients) - haematuria, proteinuria, red cell casts
59
describe the pathology of HSP
IgA complexes deposited in small vessels --> complement activation
often follows respiratory infection
60
how is HSP usually diagnosed and treated?
typically a clinical diagnosis
can biopsy and see IgA deposits on small vessels - if renal disease, consider kidney biopsy.
Rx is supportive/symptomatic - steroids relieve joint pain and swelling (NO affect on course of disease though)
61
what is Alport syndrome?
group of inherited, progressive haematuric nephropathies that can also affect cochlea (sensorineural deafness) and eye (lenticonus, dot-and-fleck retinopathy)
can cause nephritic syndrome.
Rx - none really, will need kidney transplant in the end.
62
what is nephrotic syndrome, what's its triad?
glomerular disorder, presents with classic triad:
- heavy proteinuria
- oedema
- low plasma albumin
63
how does nephrotic syndrome present?
insidious onset of oedema - puffy eyes, swelling of feet and legs, the more generalised.
frothy urine.
64
how do you investigate a kid with suspected nephrotic syndrome?
urinalysis - frothy, albuminous, possibly red cell casts.
bloods - low albumin
renal biopsy - do in older kids with haematuria, hypertension, raised urea, treatment 'failure'
65
how is nephrotic syndrome classified?
steroid sensitive
steroid dependant
steroid resistant
66
how is nephrotic syndrome diagnosed?
documentation of PROTEINURIA and HYPOALBUMINAEMIA (<25g/L)
67
how do you manage a child with nephrotic syndrome?
oral prednisolone, 60mg/m2/day
remission occurs within 10 days, dose is then tapered.
steroid resistance defined as no remission after 4 weeks.
monitor fluid balance.
prophylactic penicillin V (aka penicilliamine) during acute phase to prevent secondary infection
68
what are the possible complications of nephrotic syndrome?
- hypovolaemia
- thrombosis
- secondary infection
- hyperlipidaemia (not really a problem in kids)
69
what is the most common cause of nephrotic syndrome? give other causes
minimal change disease
congenital nephrotic syndrome, focal segmental glomerulosclerosis, mesangiocapillary glomerulonephritis
70
what atypical features would make you consider referral and renal biopsy in a child with nephrotic syndrome?
```
Age < 1 year or > 12 years
Hypertension
Impaired renal function
Frank haematuria
Steroid resistant nephrotic syndrome
```
71
what is developmental dysplasia of the hip (DDH)?
perinatal hip instability resulting in progressive malformation of the hip joint.
spectrum of disorders - dislocated hips, hips with varying degrees of acetabular dysplasia (femoral head in place but acetabulum is shallow)
72
how is DDH usually picked up / how does it present?
NIPE - Barlow and Ortolani manouevres.
repeated at 6 week check.
after that - presents with painless limp, sometimes presents as delayed walking.
73
give some clinical features of DDH, apart from limp?
asymmetrical skin folds around the hip, limited abduction of hip, shortening of affected leg (short femur = Allis sign)
74
give some risk factors of DDH
- congenital muscular torticollis
- congenital foot abnormalities
- breech or caesarean delivery
- family history
- neuromuscular disorders
- female sex
75
how is DDH diagnosed?
USS of the hip - often done in high risk babies anyway as clinical screening not especially effective
(UK used to do any risk factor, now mostly does it for breech babies/those with FHx)
76
how should you manage a baby with suspected DDH?
discuss with orthopaedics, request USS hip.
if under 8 months - use of splint/harness to keep hip flexed and abducted.
will need op if presented late - will probably also need hip replacement as adult.
77
what is scoliosis and how is it classified?
lateral curvature of the spine associated with a rotational deformity.
classified (by cause) into:
vertebral abnormalities (hemivertebra, osteogenesis imperfecta)
neuromuscular (polio, cerebral palsy)
miscellaneous (idiopathic, dysmorphic syndromes)
78
how does idiopathic (most common type) scoliosis present?
in adolescence, more common in girls.
| painless curvature of spine, thoracic rotation causing a "rib hump" when bending forward.
79
how is idiopathic scoliosis managed?
```
mild = should resolve itself
moderate = back brace
severe = surgery, fuses spine
```
80
what is torticollis? what is the most common cause in infancy?
"wry neck" - neck is fixed to one side.
in infants - sternomastoid tumour, palpable as mobile non-tender nodule within sternomastoid muscle, in first few weeks of life.
in young kids can be self-limiting to do with URTI.
81
how is torticollis managed?
usually resolves by 1 year.
| passive stretching of neck can help.
82
what is osteomyelitis?
infection of the metaphysis of long bones, usually the distal femur/proximal tibia
83
what causes osteomyelitis?
haematogenous spread of pathogen from elsewhere in body e.g. infected wound.
stasis of blood in metaphysis so infection starts there.
84
what are the common pathogens in osteomyelitis?
Staph aureus
| also - group B strep, E coli (in neonates)
85
how does osteomyelitis present?
painful, immobile limb in child with acute febrile illness -refusal to move affected limb.
directly over infected site = swelling, exquisite tenderness. erythematous and warm.
86
what investigations would you do for a child with osteomyelitis?
```
blood cultures (may also aspirate bone)
white cell count and CRP (both raised)
XR - initially will be normal, after 7-10 days will see subperiosteal bone rarefaction.
bone scans can be more useful than XR as will show changes earlier.
```
87
how would you manage a child with osteomyelitis?
early Rx with IV abx - until clinical improvement and normalising of acute phase reactants.
then weeks of oral abx.
if don't respond - surgical drainage.
rest limb in splint initially, then mobilise.
88
what is transient synovitis?
irritable hip - self-limiting condition occurring in children age 2-12 years following viral infection
89
how does transient synovitis present?
sudden onset hip pain, limp, refusal to bear weight on affected side.
no pain at rest, decreased range of movement (esp internal rotation).
afebrile, well child.
90
how do you treat transient synovitis?
bed rest - make sure to differentiate it from septic arthritis though!
91
what is Perthes' disease?
avascular necrosis of capital femoral epiphysis of the femoral head
due to interruptions of blood supply - avascular necrosis causes flattening and fragmentation of femoral head.
followed by revascularisation and reossification over the next 18-36 months, normal growth resumes.
results in growth disturbance - may remain abnormal even after recovery.
affects mainly boys age 5-10.
92
what are the clinical features of Perthes' disease?
insidious onset of limp between ages 3-12 years (mostly age 5-7).
pain (might be intermittent) can be felt in hip, thigh or knee. minority of cases are bilateral.
limited abduction and rotation.
93
what is slipped upper femoral epiphysis (SUFE) and when does it occur?
progressive posterior and medial translation of the femoral head on the femoral neck through the epiphysis
occurs during adolescent growth spurt - most common in boys age 10-15yrs
94
how does SUFE present and how is it managed?
limp and/or hip/referred knee pain.
diagnose by XR.
manage - surgery, pinning of femoral head or osteotomy
95
what is septic arthritis?
purulent infection of a joint space, can lead to joint destruction, usually from haematogenous spread (or can spread from osteomyelitis, puncture wounds or infected skin lesions), most commonly kids < 2 yrs.
96
what pathogens are usually responsible for septic arthritis?
staph aureus
occasionally H influenzae prior to vaccination.
97
how does septic arthritis present?
erythematous, warm, acutely tender joint (usually only 1, often hip in infants, knee in older child). reduced range of movement. acutely unwell febrile child.
child will be irritable, refuse to bear weight, infants hold limb rigid.
98
how would you investigate septic arthritis?
raised white cell count and CRP.
blood cultures.
aspirate joint and culture (ideally before abx!)
USS can identify effusions, XR often normal to begin with.
99
how would you manage a child with septic arthritis?
early and prolonged IV abx needed.
| surgical drainage/washout if recurrent/affecting hip.
100
what is Osgood-Schlatter's disease?
self-limiting condition of the knee in sporty adolescents.
occurs in growth spurt, basically quads contracting loads is stronger than tibial tuberosity (as it's immature) - lots of tiny fractures of that results in enlarged tubercle (due to healing of the tiny fractures)
101
how does Osgood-Schlatter's disease present and how is it managed?
gradual onset pain and swelling below the knee, improved with rest and worse on exercise.
O/E - pain invoked by knee extension against resistance, or knee hyperflexion.
management - rest, ice, physio, analgesia - self-limiting (2-3 weeks)
102
what is osteogenesis imperfecta? how is it managed?
genetic disease causing brittle bones.
mutation in type I collagen genes.
fragile bones and frequent fractures.
Rx - genetic counselling of parents, orthopaedic treatment of fractures
103
what are the 4 forms of osteogenesis imperfecta?
I - most common, autosomal dominant. recurrent fractures, blue sclerae, conductive hearing loss.
II - severe and lethal, multiple fractures before birth. autosomal recessive.
III - severe bone fragility but no blue sclera, don't normally live to adulthood, autosomal recessive.
IV - mild, only bone fragility, later onset
104
what is rickets?
vitamin D deficiency leading to inadequate mineralisation of bone matrix. results in bowing of legs, enlarged metaphyses, craniotabes (soft skull), plus developmental delay and growth failure.
105
how is rickets diagnosed and treated?
XR imaging and blood biochemistry
XR wrist shows cupping and fraying of metaphysis and widened metaphyseal plate.
vitamin D3 supplements.
106
what is juvenile idiopathic arthritis (JIA)?
persistent joint swelling (>6 weeks) presenting before 16 years of age, in the absence of infection or any other defined cause
107
explain the subtypes of JIA
7 (some books say 8) subtypes, according to no. joints involved in first 6 months, also divided by presence of rheumatoid factor and HLA B27 type.
3 key subtypes = oliogoarticular (1-4 joints), polyarticular (>4 joints), systemic (variable no. joints, presence of fever and rash).
108
what features of a joint issue history would make you consider JIA?
gelling - stiffness after periods of rest
morning joint stiffness
pain
if young child - may have intermittent limp, or deterioration of mood/avoidance of previously enjoyed activities
109
what causes the joint swelling seen in JIA? if left untreated what complications may occur?
swelling is due to fluid, inflammation and (chronically) proliferation of synovium.
if untreated - bone expansion leads to leg lengthening or valgus deformity (knock knees), discrepancy in digit length etc
110
describe the general management of JIA
education, physio, ophthamology visits (anterior uveitis), NSAIDs, joint injections, methotrexate, steroid, biologics
111
what are the features of a tension headache?
symmetrical headache of gradual onset - tightness, band etc
112
what are the features of a migraine?
```
with or without aura
lasts 1-72h
often bilaterally
pulsatile over temporal or frontal area
often w/nausea, vomiting, abdo pain, photophobia
```
113
give some causes of headaches in children
primary: tension, migraine
secondary:
- raised ICP/SOL
- head/neck trauma
- vascular malformation, intracranial haemorrhage
- substance use/withdrawal
- visual acuity issues
- infection - meningitis/encephalitis
- hypercapnia, hypertension
- acute sinusitis
- psychiatric
114
what features of a headache would make you worry about raised ICP/SOL?
- worse when lying down (first thing in AM)
- morning vomiting
- night-time waking
- accompanying change in mood/personality etc
also:
visual field defects, CN abnormalities (new squint etc), abnormal gait, torticollis, growth failure, papilloedema
115
what are febrile seizures? what age group do you see them in?
seizure accompanied by a fever, in absence of intracranial infection (e.g. bacterial meningitis, viral encephalitis)
age 6 months --> 6 years
usually occur early in a viral infection when the temp is rising rapidly
usually generalised tonic-clonic seizures
116
how would you manage a child who's had a febrile seizure?
investigate infection, usually viral so just supportive treatment (e.g. paracetamol to control fever)
can give buccal midazolam or rectal diazepam if fitting is prolonged (>5 mins)
117
what are "breath-holding attacks"?
occur when a child is crying, holds their breath and goes blue - might lose consciousness but will recover quickly.
not really a problem tbh
118
what are reflex anoxic seziures?
triggered by pain/discomfort (esp from minor head trauma), cold food, fright or fever.
after trigger, child goes very pale and falls to floor.
hypoxia may then induce a generalised tonic-clonic seizure
119
list some causes of faints/fits/funny turns that AREN'T epilepsy
```
breath holding attacks
reflex anoxic seizures
febrile convulsions
syncope
migraine
benign paroxysmal vertigo
cardiac arrhythmia
non-epileptic attack disorder
```
120
what is the difference between epilepsy and an epileptic seizure?
epilepsy is a chronic disorder featuring abnormal neuronal activity + neurological signs/symptoms
an epileptic seizure is a transient episode of abnormal and excessive neuronal activity in the brain.
121
briefly explain how epilepsy is classified
divided into generalised vs partial/focal
generalised = arises from both hemispheres
partial/focal = only one/part of one hemisphere
partial then split into simple (consciousness retained) and complex (consciousness is impaired/lost)
```
generalised is then split into:
absence seizures
myoclonic
clonic
tonic
tonic-clonic
atonic
```
122
how would you investigate and diagnose a child with two or more previous seizures?
take a thorough history, ideally with a video (ask parents to record future eps!)
EEG - helps rule out other causes
if neuro signs between seizures or if very focal seizures - consider MRI/CT brain or functional scans
only diagnose epilepsy after at least two seizures that you're confident were actually seizures (not faints etc), and if you're fairly sure there's not an underlying cause
123
what causes epilepsy?
most generalised epilepsy is idiopathic (and likely that's due to some genetic cause)
for focal epilepsy there's more chance of finding a specific cause
124
what is West syndrome / infantile spasms?
myoclonic seizures in infancy (peak incidence 4-6 months) - violent flexor spasms of head, trunk and limbs followed by extension of the arms.
important causes = tuberous sclerosis and perinatal hypoxic-ischaemic encephalopathy
poor prognosis - early treatment with ACTH or vigabatrin can help
125
what are absence seizures?
child will randomly stare/stop talking and doing anything etc for a few seconds, have many attacks a day, can present as poor school performance.
first line treatment is sodium valproate (if frequent enough to warrant treatment)
126
what are the general principles of treating epilepsy?
- don't always need anti-epileptics
- use the right drug for seizure type
- aim for monotherapy and minimal dose - if seizure free for a while then reduce down and see what happens
- consider giving parents/school rescue therapies to dispense (rectal diazepam, buccal midazolam)
127
what are some lifestyle precautions you might advise for a child with epilepsy?
TV - if photosensitive
showers over baths, don't lock door during baths
for teenagers - driving, alcohol, contraception, sleep routine advice
cycling - wear helmet, avoid traffic
128
what is cerebral palsy?
abnormality of movement and posture due to non-progressive lesion of developing foetal or infant (up to 2 yrs) brain.
lesion is non-progressive but clinical manifestation evolves as nervous system develops.
motor dysfunction often accompanied by other issues due to widespread damage to brain - cognition, communication, perception, sensation, behaviour, seizures
129
give some causes of cerebral palsy
Antenatal (80%):
- cerebral dysgenesis
- congenital infections (rubella, CMV, toxoplasmosis)
Intrapartum (10%):
- birth asphyxia
Postnatal (10%):
- preterm birth (hypoxic-ischaemic encephalopathy, intraventricular haemorrhage)
- hyperbilirubinaemia
- hypoglycaemia
- head injury
- intracranial infection (meningitis, encephalitis)
130
give some different ways the cerebral palsy might present
- delayed motor milestones
- anormal limb/trunk tone and posturing in infancy
- feeding difficulties due to lack of oromotor coordination (gagging, vomiting, slow feeding)
- speech and language delay
- persistent primitive reflexes
131
how is cerebral palsy diagnosed?
by clinical examination for abnormalities of:
- tone (hyper or hypotonia)
- power (e.g. hemiparesis)
- reflexes (e.g. brisk, absence)
- abnormal movements (e.g. athetosis or chorea)
- abnormal posture or gait
MRI scans sometimes done to look for cause, but not required to diagnose
132
what are the different types of cerebral palsy?
spastic (most common), dyskinetic, ataxic, mixed
133
briefly describe the pathology and clinical features seen in spastic cerebral palsy
damage to pyramidal pathways (UMN) causes persistently increased limb tone (spasticity) + brisk deep-tendon reflexes and extensor plantar responses.
divided into hemiplegic, diplegic or quadriplegic depending on distribution of affected limbs.
134
briefly describe the pathology and clinical features seen in dyskinetic cerebral palsy
damage to basal ganglia or extra-pyramidal pathways.
often present with hypotonia and delayed motor development, then you get involuntary and uncontrolled movements - chorea, athetosis or dystonia.
relatively unimpaired intellect.
135
briefly describe the pathology and clinical features seen in ataxic cerebral palsy
damage to cerebellum. early trunk and limb hypotonia, poor balance, delayed motor development.
then - uncoordinated movements, intention tremor, ataxic gait
136
what is craniosynostosis?
premature fusion of cranial sutures - infants present soon after birth with abnormal skull (shape depends on which sutures have fused).
137
what are neural tube defects and what is the major preventable prenatal risk factor for them?
failure of normal fusion of the neural plate to form neural tube during the first 28 days following conception - associated with folate deficiency, women trying to conceive/pregnant should supplement with folic acid.
other major RF is previously affected child.
138
what is anencephaly?
failure of development of most of neural tube/brain - incompatible with life. picked up on USS and TOP usually performed.
139
what is an encephalocele?
extrusion of brain and meninges through midline skull defect - can be corrected surgically but there's usually underlying cerebral malformations
140
what is a myelomeningocele?
herniation of meninges and spinal cord - associated with variable paralysis of legs, sensory loss, muscle imbalance, bladder denervation, scoliosis - requires surgery and physio from birth and then management of ongoing neuro deficits (e.g. indwelling catheter for neuropathic bladder)
meningocele is just a little protruding bubble of CSF, has better prognosis after surgical repair.
141
what is hydrocephalus?
enlargement of cerebral ventricles due to excessive accumulation of CSF - most frequent cause of rapidly enlarging/expanding newborn head.
there's some kind of obstruction to flow of CSF --> dilation of the ventricular system proximal to the site of obstruction (may be within the ventricular system or aqueduct or at arachnoid villi)
142
what are the clinical features of hydrocephalus in babies?
disproportionately large head circumference, or rapid expanding (sutures haven't fused).
bulging fontanelles
fixed downward gaze (BAD - v late sign)
signs of raised ICP
143
how would you investigate/manage an infant with a rapidly increasing head circumference?
cranial USS or CT/MRI
monitor head circumference
might have been picked up on antenatal US screening.
treatment is insertion of ventriculoperitoneal shunt
144
what is neurofibromatosis 1?
autosomal dominant disorder - 50% are from new mutations with no FHx.
features - cafe au lait spots, neurofibromas (nodular overgrowth of a peripheral nerve, may be palpable)
also - axillary freckles, optic glioma, Lisch nodule, bony lesions
145
what is neurofibromatosis 2?
mutations on chromosome 22, much rarer than type 1.
bilateral acoustic neuromata and other CNS tumours.
146
what is tuberous sclerosis?
autosomal dominant disorder, mostly new mutations
| presents with seizures, mental retardation and facial angiofibromas
147
what is Duchenne muscular dystrophy?
X-linked recessive disease
large gene that encodes dystrophin, a sarcolemmal membrane protein.
degeneration of muscle.
148
what are the clinical features of Duchenne muscular dystrophy?
boys develop symptoms age 2-4y - delayed independent walking, never run. wheelchair by 12y, die of heart failure or pneumonia by 25y.
other features - pseudohypertrophy of calf muscles and proximal muscle weakness, positive Gower's sign, scoliosis and contractures, dilated cardiomyopathy, mild learning difficulties.
149
how is Duchenne muscular dystrophy diagnosed?
- serum creatine kinase levels (10-20x normal)
- muscle biopsy and EMG
- DNA analysis
150
how is Duchenne muscular dystrophy managed?
supportive - braces, splints etc.
| identify female carriers, give genetic counselling.
151
what is Becker muscular dystrophy?
mutation in same gene as Duchenne's but much milder disease
152
what disorders are associated with diabetes diagnosed in a child?
type 1 diabetes = autoimmune, so things like hypothyroidism, Addison's, coeliac, RA
153
briefly explain the aetiology of T1DM
genetic + environment
autoimmune process which damages pancreatic beta cells and leads to insulin deficiency - pancreas isn't producing enough insulin (compare to T2 where there's insulin resistance)
154
what are the clinical features of T1DM that a child might present with?
increasing polyuria, polydipsia and weight loss over a few weeks.
young kids might have secondary nocturnal enuresis.
might present with DKA.
155
what are the diagnostic criteria for T1DM?
BM > 11.1mmol/L in a symptomatic child or on 2+ occasions
OR - 2x fasted BM > 7
glycosuria and ketonuria
raised HbA1c (glycosylated haemoglobin)
156
describe the initial management for a child presenting with new T1DM
if in DKA - admit
start SC insulin
IV fluids if vomiting/dehydrated
educational programmes
157
describe the use of insulin in T1DM
human insulin analogues are used - rapid acting, soluble, given 15-30 minutes before meals.
there are also intermediate acting and mixed preparations.
may have a continuous infusion of rapid-acting via a pump or SC injections (remember site rotation to avoid infections and hypertrophy!)
carb counselling teaches them to match insulin to diet.
regular BM monitoring.
158
how do you treat hypogylcaemia in a type 1 diabetic child?
if at home - use of sugary drinks/dextrose tablets etc.
IV glucose infusion (2 ml/kg of 10% dextrose following by 10% dextrose infusion).
can give IM glucagon if can't get IV access.
159
what is DKA?
diabetic ketoacidosis - emergency
end stage of insulin deficiency - glucose stays in system as can't be used up, hyperglycaemic. as glucose levels go over renal threshold, osmotic diuresis starts - severe dehydration, loss of electrolytes.
fat used as energy source, generation of ketones and metabolic acidosis.
160
what are the clinical features of DKA?
features evolve as dehydration and acidosis worsens.
if a new diabetic - hx of polyuria, polydipsia and weight loss, then rapid development of vomiting, lethargy and abdo pain.
if known diabetic - intercurrent illness, vomiting, poor control, hyperglycaemia (documented in their routine BM monitoring) and ketonuria.
signs - of dehydration, ketone smell on breath, Kussmaul breathing (rapid, deep, sighing), headache and signs of cerebral oedema
161
what investigations would you perform for a T1DM teenager arriving in A&E with suspected DKA?
- BM (probs >15)
- U&Es (depleted sodium and potassium, raised urea)
- ABG (metabolic acidosis)
- urine glucose and ketones (ketonuria)
162
briefly describe the management of DKA
careful restoration of fluid and electrolytes, plus insulin
| acidosis should correct with fluid balance restoration and insulin.
163
describe the normal changes in thyroid hormone production/levels from foetus through first couple of weeks of life
foetal thyroid produces 'reverse T3' (inactive derivative)
after birth there's a surge in TSH
leading to a marked increase in T4 and T3
TSH then declines to normal adult range within a week
164
name a relatively common endocrine condition that is one of the few preventable causes of severe learning difficulties
congenital hypothyroidism
165
what is the most common cause of congenital hypothyroidism? briefly explain it
maldescent of thyroid/athyrosis:
in early foetal development the thyroid migrates from base of tongue to below larynx.
in maldescent it remains a lingual mass or a unilobular small gland.
in athyrosis it just doesn't develop (properly, or at all)
166
list some causes of congenital hypothyroidism
```
most common = maldescent of thyroid or athyrosis.
dyshormonogenesis (inborn error of thyroid hormone synthesis).
iodine deficiency (most common globally).
TSH deficiency (normally due to associated panhypopituitarism - deficient in GH, gonadotrophin and ACTH - have hypos, micropenis, undescended testes).
```
167
what are the clinical features of congenital hypothyroidism?
if first month of life - hard to distinguish from normal features.
then - failure to thrive, feeding problems, prolonged jaundice, constipation, pale/cold/mottled/dry skin, coarse facies, hoarse cry.
usually just detected on Guthrie as raised TSH (unless secondary to pituitary abnormalities)
168
how is congenital hypothyroidism usually detected?
on Guthrie
169
how is congenital hypothyroidism usually managed?
thyroxine - started at 2-3 weeks of age.
will be on lifelong oral thyroxine replacement, dose gets titrated to maintain normal growth, TSH and T4 levels.
early treatment prevents learning difficulties.
170
what is juvenile hypothyroidism? what causes it, how is it managed?
usually due to an autoimmune thyroiditis, increased risk in Turner's, Down's and other autoimmune disorders.
F > M
growth failure + delayed bone age.
Rx = thyroxine.
171
what usually causes hyperthyroidism in children?
```
Graves disease (autoimmune thyroiditis) secondary to production of thyroid stimulating Igs.
similar to adults, but eye features less common.
```
172
what blood results would you see in a child with hyperthyroidism? how would you manage them?
T3 and T4 high, TSH suppressed.
antithyroid peroxidase antibodies might be present.
Rx - carbimaxole or propylthiouracil, plus beta blockers for symptom relief.
surgery/radioiodine if needed, then thyroxine replacement.
173
briefly explain what parathyroid hormone (PTH) does
PTH promotes bone formation via osteoblasts.
then if calcium levels are low, PTH works to promote bone resorption via osteoclasts --> increases renal uptake of calcium + activates metabolism of vitamin D to promote gut absorption of calcium.
174
what is hypoparathyroidism?
in infants it's due to congenital deficiency (DiGeorge syndrome) w/ thymic aplasia, defective immunity, cardiac defects and facial abnormalities.
in older kids - autoimmune, associated with Addison's disease.
low serum calcium, with raised serum phosphate and normal ALP. PTH really low.
severe hypocalcaemia leads to muscle spasm, fits, stridor and diarrhoea.
175
what is pseudohypoparathyroidism?
end-organ resistance to action of PTH due to mutation in a signalling molecule.
serum calcium and phosphate are abnormal but PTH levels are normal/high.
get short stature, obesity, subcutaneous nodules, short 4th metacarpals and learning difficulties.
176
how do you treat acute symptomatic hypocalcaemia?
IV infusion of calcium gluconate
| if chronic hypocalcaemia - treat with oral calcium and high dose of vit D analogues
177
what clinical features might you seen in hyperparathyroidism? how do you treat?
constipation, anorexia, lethargy, behavioural effects, polyuria and polydipsia.
bony erosions of phalanges on XR.
Rx - rehydration, diuretics, bisphophonates
178
what is the most common (non-iatrogenic) cause of insufficient cortisol and mineralocorticoid secretion?
congenital adrenal hyperplasia
179
how do infants present with CAH?
acute salt-losing crisis, hypotension and hypoglycaemia
| also - female virilization. hard to diagnose boys as they have few clinical manifestations at birth!
180
how do you manage an infant with CAH?
IV saline, glucose and hydrocortisone (initial management of salt-losing crisis)
long-term will need cortisol replacement (hydrocortisone) and mineralocorticoid replacement (fludrocortisone - if salt-losing). surgical correct of female genital abnormalities.
should wear medic alert bracelet or carry steroid card.
181
what is congenital adrenal hyperplasia (CAH)?
group of disorders - defect in pathway synthesising cortisol from cholesterol.
usually due to deficiency in 21-hydroxylase or 11-hydroxylase.
autosomal recessive, gene on chromosome 6.
182
how do you diagnose an infant with CAH?
need to see markedly elevated 17alpha-hydroxyprogesterone .
if in salt-losing crisis, clues are in bloods - hyponatraemia, hypochloridaemia, hyperkalaemia.
183
give some causes of primary adrenal insufficiency (Addison's) in children? how might this present?
it's rare!
autoimmune disease
haemorrhage and infarction
TB (v v rare)
presents with physical findings (postural hypotension, increased pigmentation) or when intercurrent illness/trauma triggers adrenal crisis (vomiting, dehydration, shock)
184
what causes secondary adrenal insufficiency in children? how should this be managed?
usually due to prolonged glucocorticoid use in diseases not involved adrenal glands e.g. severe chronic asthma.
need to reduce down the steroids - must do this slowly!!
185
what is Cushing's syndrome and how does it present in kids?
due to glucocorticoid excess.
| features incl. short stature, truncal obesity, buffalo hump, moon face, virilization, striae, hypertension.
186
what causes Cushing's syndrome in kids?
usually due to long term glucocorticoid use!
| also - adrenal tumour, ACTH secretion (from pituitary tumour, ectopic ACTH production)
187
how is Cushing's diagnosed in kids?
elevated cortisol levels, no diurnal variation.
dexamethasone suppression test to distinguish Cushing's disease from Cushing's syndrome.
CT/MRI of adrenal and pituitary glands to identify a tumour.
188
what is the inherited cancer that affects children?
bilateral retinoblastona - RB gene on chromosome 13
189
what type(s) of leukaemia do kids get?
```
acute lymphocytic (ALL) - 80%
most of the rest are acute myeloid (AML)
```
190
how does leukaemia present in children?
peaks at age 2-5 years
insidious and non-specific - features are due to bone marrow infiltration and widespread dissemination of disease.
pallor and malaise - anaemia
haemaorrhagic diathesis - purpura, easy bruising, epistaxis (thrombocytopaenia)
hepatosplenomgealy, lymphadenopathy
bone pain (expansion of marrow cavity)
infection - neurtropaenia
191
what is leukaemia?
proliferation of immature white cells.
| most common malignancy of childhood.
192
what investigations would you perform for a child with a suspected leukaemia? what would you find?
bloods - normocytic normochromic anaemia, thrombocytopaenia, neurtropaenia, blast cells
bone marrow aspiration shows replacement of normal elements with leukaemic cells
193
how is ALL managed?
intensity of therapy is decided based on prognosis (lots of factors affect this!)
induction with e.g. vincristine, dexamethasone, methotrexate.
maintenance and delayed intensification regimes might be used.
correction of anaemia, platelet transfusion and infection risk controlled.
if poor prognosis, might require bone marrow transplant (last resort)
194
what are the lymphomas and who gets which?
Non-Hodgkin's lymphoma - young children
| Hodgkin's disease - adolescents and young adults
195
what are the clinical features of non-hodgkin's lymphoma?
tends to be aggressive and rapidly growing, might see:
- peripheral lymph none enlargement
- intrathoracic mass
- mediastinal mass or pleural effusion
- abdo mass
- gut/lymph node masses
196
how is non-hodgkin's lymphoma managed?
chemotherapy
| might need surgical debulking of abdo tumours.
197
what is the characteristic histological feature of Hodgkin's disease?
Reed-Sternberg cells
198
what are the clinical features of Hodgkin's lymphoma?
painless cervical/supraclavicular lymphadenopathy, usually no systemic symptoms.
might have mets to lung, liver, bone marrow.
199
how is Hodgkin's lymphoma diagnosed?
histology of lymph node biopsy - Reed Sternberg cells
200
how is Hodgkin's lymphoma managed?
combination chemotherapy (unless completely localised, in which case can use radiotherapy). good prognosis.
201
how common are brain tumours in kids? where are they normally located?
second most common type of cancer, most common solid cancer.
most are infratentorial.
present w/ raised ICP and cerebellar dysfunction.
diagnosis is difficult and delayed.
202
what are the main types of brain tumour?
astrocytoma (40%)
primitive neuroectodermal tumours (medulloblastomas) - 20%
craniopharyngioma (4%)
203
what are astrocytomas?
most common type of paediatric brain tumour
range from benign to quite malignant.
diagnosed with MRI and clinical findings because biopsy too risky.
poor prognosis.
204
what are medulloblastomas?
arise in midline of posterior fossa, can metastasise to spine.
most common MALIGNANT paediatric brain tumour. peak incidence 2-6 years, usually in boys.
present with headache, vomiting, ataxia.
Rx - surgical removal and whole CNS irradiation ± adjuvant chemo
205
what are craniopharyngiomas, how do they present?
arise from Rathke's pouch, locally invasive and present with visual field loss (compression of optic chiasm) and pituitary dysfunction (growth failure, diabetes insipidus).
Rx - surgical excision/radiotherapy, prognosis pretty good.
206
how might a child with a brain tumour present?
signs and symptoms of raised ICP e.g. headache, vomiting.
might have focal neurology.
if it's a type that spreads to spine - back pain, peripheral weakness, bowel/bladder function loss.
207
what are neuroblastomas?
malignancy of neural crest cells that would normally develop into paraspinal sympathetic ganglia and the adrenal medulla.
2nd most common solid tumour of childhood - mostly infants/preschool (median diagnosis age 2y).
can sometimes regress spontaneously!
208
what are the clinical features of neuroblastoma?
varies depending on location:
- abdo mass - firm, non-tender abdo mass (most common presentation!)
- systemic signs - pallor, weight loss, bone pain
- hepatomegaly, lymph node enlargement
- unilateral proptosis - periorbital swelling and ecchymosis (mets to eye)
- opsoclonus-myoclonus - 'dancing eye' syndrome
- watery diarrhoea (secretion of vasocactive intestinal peptide)
- extra-abdo tumours
- mediastinal mass on CXR
209
how are neuroblastomas diagnosed?
- raised urinary catecholamines
- biopsy
- scan using MIBG (radiolabelled tumour-specific agent)
210
how are neuroblastomas managed?
surgical resection, chemo, irradiation
211
what genetic factor is associated with a poor prognosis in neuroblastomas?
overexpression of the N-myc oncogene in the tumour material
212
what is Wilms' tumour?
nephroblastoma - arises from embryonal renal cells of the metanephros.
occurs usually <5 yrs.
mostly unilateral.
sporadic and familial forms exist.
213
what are the clinical features of a Wilms' tumour?
- asymptomatic abdo mass that does not cross the midline
also:
- abdo pain - due to haemorrhage into tumour
- haematuria
- hypertension
214
briefly explain the roles of genetics in Wilms' tumours
can be associated with aniridia (absent iris) and deletions of parts of chromosome 11.
other associated abnormalities incl. hemihypertrophy, GU tract abnormalities, mental retardation
215
how is a Wilm's tumour diagnosed and treated?
CT scan - intrinsic renal mass with mixed solid and cystic densities
plus a biopsy.
Rx - surgical resection ± chemo/radio
216
what are soft tissue sarcomas?
tumours arising from primitive mesenchyme. most common is rhabdomyosarcoma.
217
what are the clinical features of rhabdomyosarcoma? how is it diagnosed and managed?
most commonly affects head and neck, might also see GU tumours or metastatic disease.
diagnosed with biopsy.
Rx - chemo/surgery/radio
218
what is retinoblastoma?
malignant tumour of retinal cells - causes absent red reflex in neonate.
associated with deletion of a tumour suppressor gene on ch13.
40% are bilateral (often hereditary)
diagnosed with MRI and examination under anaesthetic if needed.
treatment is curative, but want to preserve vision - use of chemo and local laser treatment of retina.
219
what are the paediatric bone tumours?
malignant bone tumours uncommon before puberty.
| get ostoegenic sarcoma and Ewing sarcoma.
220
how do bone tumours present?
limbs are most common site - persistent local bone pain.
might also have swelling - this is a later sign.
221
how would you diagnose and manage a paediatric bone tumour?
XR then MRI then bone scan.
| Rx - chemo/surgery
222
where is the main site of haemopoiesis in foetal life? what about after birth?
in foetus - liver.
| after birth = bone marrow
223
briefly explain haemoglobin production in the foetus/newborn?
embryonic haemoglobins are produced in weeks 4-8 of gestation
then it switches to HbF (foetal Hb) - made up of two alpha chains and two gamma chains (α2γ2) - has a higher oxygen affinity than adult Hb (HbA).
at birth the neonate has HbF, HbA and HbA2.
throughout first year of life, HbF gradually replaced by HbA/HbA2.
224
what different things can anaemia be due to?
- decreased red cell production (ineffective erythropoiesis or red cell aplasia)
- increased red cell destruction (haemolysis)
- blood loss (uncommon in kids)
- combo of the above
225
what are the main causes of anaemia due to decreased red cell production in kids?
iron deficiency - inadequate intake/malabsorption/blood loss.
red cell aplasia - congenital (Diamond-Blackfan anaemia, DBA), transient erythroblastopenia of childhood, parvovirus B19 infection in kids with inherited haemolytic anaemia.
226
what causes iron deficiency anaemia in kids?
inadequate intake - common in infants as they need additional iron for the increase in blood vol and to build up stores.
sources of iron - breast milk, formula, cow's milk, solids once weaning.
227
what are the clinical features of iron deficient anaemia in kids? what are the features on bloods?
usually none till Hb < 6.
tire easily, slow feeding (in infants). pallor (check conjunctiva, tongue, palmar creases).
pica.
bloods - microcytic, hypochromic anaemia, low serum ferritin.
228
how would you manage an infant/child with iron deficient anaemia?
diet advice, supplementation (oral iron - Sytron, sodium iron edetate)
supplement till Hb is normal, then for at least 3 months more.
229
what are the 3 main causes of red cell aplasia in children?
- congenital red cell aplasia (Diamond-Blackfan)
- transient erythroblastopaenia of childhood
- parvovirus B19 infection in kids with inherited haemolytic anaemia
230
what blood results suggest a red cell aplasia as cause of anaemia in children?
low reticulocyte count despite low Hb
normal bilirubin
negative direct antiglobulin test
absent red cell precursors on bone marrow
231
what is Diamond-Blackfan anaemia? how does it present / is it treated?
presents at 2-3m with anaemia symptoms.
| treatment is oral steroids.
232
what is transient erythroblastopaenia of childhood?
usually triggered by a viral infection
has same haematology as Diamond-Blackfan
but child will always recover
233
how does haemolytic anaemia work?
decreased red cell lifespan due to increased red cell destruction in the circulation (intravascular haemolysis) or liver/spleen (extravascular haemolysis).
haemolysis leads to anaemia when bone barrow can no longer keep up.
234
what causes haemolytic anaemia in children?
main cause is intrinsic abnormalities of red blood cells:
- red cell membrane disorders e.g. hereditary spherocytosis
- red cell enzyme disorders e.g. G6PD deficiency
- haemoglobinopathies e.g. beta-thalassaemia major, sickle cell disease
235
what are the clinical features of haemolytic anaemia in children?
anaemia, hepatomegaly, splenomegaly, raised blood levels of unconjugated bilirubin, excess urinary urobilinogen.
236
what diagnostic clues suggest a haemolytic anaemia?
raised reticulocyte count, unconjugated bilirubinaemia, raised urinary urobilinogen, abnormal shape of red cells, positive Coombes test, raised red cell precursors in bone marrow
237
what is hereditary spherocytosis?
autosomal dominant disorder leading to haemolytic anaemia.
mutations in genes for proteins of red cell membrane.
shape changes as they pass through spleen, and the cells get destroyed.
238
what are the clinical features of hereditary spherocytosis? how is it diagnosed?
FHx might give clues.
may be totally asymptomatic.
jaundice, anaemia, splenomegaly, aplastic crisis, gallstones.
Dx - blood film.
239
how is hereditary spherocytosis treated?
oral folic acid normally enough.
| but if severe - possibly splenectomy.
240
what is G6PD deficiency?
| glucose-6-phosphate dehydrogenase
X-linked disorder resulting in deficiency of G6PD in blood. results in oxidative haemolysis.
aka favism - triggered by fava bean! also triggered by stress, infection etc.
241
what are the clinical features of G6PD deficiency and how is it treated?
may be asymptomatic till triggered.
neonatal jaundice, acute haemolysis (precipitated by fava beans, infection, some drugs).
Rx - advice on signs of acute haemolytic episode and substances to avoid.
242
what are the haemoglobinopathies and when do they present?
cause haemolytic anaemia because of reduced/absent production of HbA (alpha and beta thalassaemias).
or there's production of abnormal Hb (e.g. sickle cell)
clinical manifestations delayed until 6 months, after the HbF is replaced by HbA.
243
what are the different forms of sickle cell anaemia?
inherit HbS due to a mutation of beta-globin gene.
3 forms + sickle trait.
1. Sickle cell anaemia (HbSS) - homozygous, so no HbA
2. HbSC disease - HbS + HbC, no HbA
3. Sickle cell beta-thalassaemia - HbS + beta-thalassaemia, so still no HbA
Sickle trait - HbS from one parent, normal beta-globin from the other. Carrier.
244
briefly explain the pathogenesis of sickle cell anaemia?
HbS polymerises within RBCs forming rigid tubular spiral bodies which deform the RBCs into a sickle shape.
irreversible - RBCs have reduced lifespan and can get trapped in the microcirculation which can lead to vaso-occlusive crises.
245
what clinical features might you see in sickle cell disease?
anaemia, infection, painful crises, acute anaemia, splenomegaly
246
how do you manage sickle cell disease?
prophylactic penicillin and folic acid.
avoid cold, dehydration, hypoxia, excessive exercise.
bone marrow transplant.
247
what are the clinical features of beta thalassaemias?
severe anaemia (transfusion dependent) from 3-6 months
jaundice
failure to thrive
extramedullary haemopoiesis
inherited blood disorder, reduced/absent synthesis of beta chains of Hb. Chromosome 11.
248
how is a child with beta thalassaemia managed?
monthly RBC transfusions - fatal if not.
| SC deferasirox for iron chelation to prevent iron overload.
249
what is beta thalassaemia trait?
carrier of beta thalassaemia genes.
usually asymptomatic, possibly mild anaemia.
hypochromic, microcytic - use ferritin to distinguish iron deficiency anaemia.
250
what is alpha thalassaemia and how is it managed?
genetic issues with alpha chain Hb production. ranges in severity depending on whether all 4 alpha chains are affected.
monthly transfusions needed if major.
251
what are the causes of anaemia in a neonate?
congenital parvovirus B19 infection and Diamond-Blackfan will lead to red cell infection.
haemolytic causes - thalassaemias, sickle cell etc as normal
PLUS haemolytic disease of the newborn
252
explain what haemolytic disease of the newborn is
immune - due to antibodies against blood group antigens (anti-D, anti-A, anti-B and anti-Kell)
Mother is negative, foetus is positive - Mum makes antibodies to foetal blood that crosses the placenta. these antibodies then cross back over, causing neonatal anaemia.
Will have positive Coombs test (direct anti-globulin test)
253
what is fanconi anaemia?
X-linked or autosomal recessive inherited disorder
defective stem cell repair and chromosomal fragility - progressive marrow failure and aplastic anaemia.
stem cell transplant is only cure.
254
what is ITP?
idiopathic thrombocytopenic purpura.
most common cause of thrombocytopenia in childhood.
immune-mediated, no exogenous cause.
platelets destroyed in reticuloendothelial system - mainly in spleen.
255
what are the clinical features of ITP?
kids 2-10y
purpura and superficial bleeding +/- bleeding from mucosa (epistaxis).
might have palpable spleen.
FBC shows thrombocytopenia but no pancytopenia.
bone marrow aspiration to exclude marrow infiltration or aplasia - if doubt of diagnosis.
256
how do you treat ITP?
usually acute, benign and self-limiting - no treatment required.
if really severe might do IV Ig infusion or short course of oral steroids.
257
what is haemophilia A?
X-linked recessive coagulation disorder.
factor VIII deficiency.
Factor VIII is made up of VIII:C (antihaemophiliac factor) and VIII:R (von Willebrand factor).
haemophilia A is deficiency of VIII:C
258
what are the clinical features of haemophilia A?
clinical severity varies depending on factor VIII levels.
classically see spontaneous or traumatic bleeding - can be subcutaneous, intramuscular, intra-articular.
might go undiagnosed until excessive bleeding after e.g. dental extraction.
259
how is haemophilia A diagnosed and treated?
diagnosis - prolonged APTT, then factor VIII assay confirms diagnosis.
Rx - IV factor VIII concentrate infusion, produced using recombinant DNA.
if only mild - desmopressin infusion can be used, releases factor VIII from tissue stores.
260
what is haemophilia B?
Christmas disease - factor IX deficiency.
X-linked recessive.
clinically similar to haemophilia A, much less common.
Dx - prolonged APTT, reduced factor IX activity.
Rx - prothrombin complex concentrate.
261
what is von Willebrand disease?
deficiency of vWF (von Willebrand factor, VIII:R).
vWF is in charge of being a carrier protein for factor VIII:C, preventing its breakdown, and it inherits platelet adhesion.
autosomal dominance with variable penetrance.
262
what is the clinical hallmark of von Willebrand disease?
bleeding into skin and mucous membranes (gums and nose)
263
what is DIC?
disseminated intravascular coagulation (DIC) - intravascular activation of coagulation cascade, secondary to various disease processes:
- damage to vascular endothelium - sepsis, renal disease.
- thromboplastic substances in circulation e.g. acute leukaemia
- impaired clearing of clotting factors e.g. liver disease
fibrin deposition in small blood vessels, tissue ischaemia, consumption of labile clotting factors and activation of the fibrinolytic system.
264
what are the clinical features of DIC?
- diffuse bleeding tendencies
- bleeding lungs
- bleeding from GI tract
basically little blood clots form everywhere, causing things like chest pain, leg pain, SOB etc
265
how is DIC diagnosed and treated?
investigations show prolonged INR, APTT and TT.
thrombocytopaenia and microangiopathic red cell morphology.
hypofibrinogenaemia.
elevated fibrinogen degradation products.
Rx - treat underlying cause, replace platelets, give fresh frozen plasma.
266
what are the four key phases of human growth?
1. foetal - 30% of eventual height
2. Infantile - lasts till about 18 months, depending on adequate nutrition, good health, thyroid function etc. rapid but slowing growth (15%)
3. Childhood phase - slow and steady (40%). GH secreted by pituitary gland, acting to produce IGF-1 at epiphyses - determines rate of growth. also need thyroid hormones, vit D, steroids. GH secretion is reduced if profoundly unhappy - psychosocial short stature.
4. Pubertal growth spurt - sex hormones (testosterone / oestradiol) cause back to lengthen and boost GH secretion. adds 15% to height. fusion of epiphyseal growth plates and cessation of growth.
267
what is the first sign of puberty in girls? at what age should you see this?
breast development.
| 8.5-12.5 yrs
268
what follows the initial sign of puberty in girls?
initial sign = breast development
| then pretty much straight away you get pubic hair growth and rapid height spurt.
269
when does menarche occur?
on average, about 2-5 years after initiation of puberty (breast development)
270
what is the first sign of puberty in boys?
testicular enlargement to >4ml
271
what follows the initial sign of puberty in boys?
pubic hair growth (c.10-14yrs).
| height spurt when testicular volume is 12-15mls - 18 month ish delay.
272
what secondary sex characteristics develop in puberty for both sexes?
acne, axillary hair, body odour, mood changes
273
what investigations might be performed in early/late puberty?
bone age measurement on hand and wrist XR
| pelvic USS in females - measure uterine size and endometrial thickness
274
define short stature
height below 2nd or 0.4th centiles - but take parents into account!
height velocity can help.
275
list some causes of short stature
- familial
- intrauterine growth restriction, extreme prematurity
- constitutional delay of growth + puberty (often runs in family)
- endocrine - hypothyroidism, GH, IGF-1 deficiency, steroid excess
- nutritional
- chronic illness e.g. coeliac, Crohn's, chronic renal failure
- psychosocial
- syndromes
- Silver-Russell syndrome - triangular face
276
define, and give some causes of, microcephaly
head circ <2nd centile
- familial
- autosomal recessive condition associated w/ developmental delay
- congenital infection
- acquired after insult to developing brain
277
define, and give causes of, macrocephaly
head circ >98th centile
if increasing rapidly - worry about raised ICP!!
mostly this is normal.
278
define precocious puberty/premature sexual development
development of secondary sex characteristics <8y in F, <9y in M
279
how is precocious puberty categorised?
by levels of gonadotrophins (FSH and LH):
- gonadotrophin dependent (central/'true' precocious puberty) --> premature activation of HPA axis
- gonadotrophin independent (pseudo/'false' precocious puberty) --> due to excess sex steroids
280
explain the causes of precocious puberty in girls and how you might investigate
idiopathic/familial - follows normal sequence of puberty
organic causes are associated with:
- dissonance: changes occur out of sequence
- rapid onset
- neurological symptoms and signs
USS ovaries and uterus - if just premature onset of normal puberty, you'll see multicystic ovaries and enlarging uterus
281
explain the causes of precocious puberty in boys and how you might investigate
usually got an organic cause!! esp. intracranial tumours.
examine the tests:
bilateral enlargement = gonadotrophin release
small = adrenal cause
unilateral enlargement = gonadal tumour
cranial MRI for hypothalamic tumour
282
what is thelarche?
premature breast development (in isolation from premature puberty - no pubic hair or growth spurt).
affects females 6m - 2y.
rarely progressed past stage 3 of breast development.
non-progressive and self-limiting.
283
what is adrenarche?
isolated early growth of pubic hair in either sex, in absence of other signs of sexual development.
benign and self-limiting.
due to early maturation of adrenal androgen secretion.
284
define delayed puberty
absence of any pubertal development by 14y in F, 15y in M
| more common in boys
285
what causes delayed puberty?
usually just a normal variation / constitutional delay in growth and puberty (CDGP) - familial.
also dieting and excessive exercise.
286
how would you assess a boy for delayed puberty?
pubertal staging - especially using testicular volume
| identify any chronic systemic disorders
287
how would you assess a girl for delayed puberty?
pubertal staging
karyotyping to check for Turners
also measure sex steroid hormones
288
how would you manage a teenager with delayed puberty?
main aim - identify and treat any underlying pathology and ensure normal psychological adaptation to puberty.
can accelerate growth and promote entry into puberty (with oxandrolone for M or oestradiol for F) if necessary.
289
explain how sex differentiation occurs re. the foetal gentialia
foetal gonad is initially bipotential - SRY gene on Y chromosome is testis-determining - without it, gonad becomes female.
290
list some causes of abnormal sexual differentiation
- excessive androgens (CAH is most common) - causes virilisation of females
- inadequate androgen action - undervirilization in males - either a receptor problem or unable to convert testosterone to active form (5alpha-reductase deficiency), or abnormalities in synthesis of androgens from cholesterol
- gonadotrophin insufficiency e.g. Prader-Willi, congenital hypopituitarism (small penis, cryptorchidism)
- ovotesticular disorder of sexual differentiation (DSD) - foetus has XX and XY cells, so ovarian and testicular tissue present - 'true hermaphroditism'
291
describe foetal development of testes
develop intra-abdominally and migrate through the inguinal canal to scrotum in third trimester.
should be in scrotum in newborns, but often undescended in preterm infants
292
describe the clinical features/examination of undescended testes
testis might be:
- incompletely descended, but lying on normal pathway (20%)
- maldescended or ectopic - deviated from normal path after emerging from the superficial inguinal ring (80%)
must distinguish from retractile testis that can usually be coaxed down into scrotum (examine in warm room with warm hands!)
refer to surgeons if impalpable/ectopic testis found at 6 week check
293
how are undescended testes managed?
orchidopexy performed age 1-2y.
294
what is testicular torsion?
peaks of incidence - neonates, puberty
inadequate fixation to tunica vaginalis allows testis to rotate and occlude its vascular supply.
**urgent surgical exploration and fixation**
295
how do you define obesity in children?
use BMI adjusted for age.
| most obese kids are also tall (>50th centile) - if short stature, associated with Cushing's of hypothyroidism
296
list features of a history/examination that might suggest NAI
```
history:
- delay in seeking medical help
- injury consistent with hx/changing story
- cause of trauma inappropriate for age/activity
- prev unexplained injury
- parents unconcerned
exam:
- signs of neglect
- withdrawn personality
- frenulum lacerations (shaken/battered baby)
- genital injury
- old injuries
```
bruise features that suggest NAI - ANY bruise in non-mobile baby, bruises on face/back/buttocks of toddler, bruises in pattern of finger tips/hand print/belt, bruises of different ages
297
what are the three hallmarks of ADHD?
- inattention beyond what's normal for their age
- hyperactivity
- impulsiveness
298
what is features are required for a diagnosis of ADHD in the UK?
the three core features - inattention (beyond normal for age), hyperactivity, impulsiveness.
must: last at least 6 months, be present in more than 1 situation (home and school), impair function
299
what are the clinical features of ADHD?
inattention - easily distracted child, changes activity frequently, does not persist with tasks
hyperactivity - fidgeting, restlessness, sleep probelms
impulsiveness - act impetuously and erratically, don't reflect on consequences
features often there preschool but don't come to clinical attention till after demands of classroom
300
briefly explain management of ADHD
behaviour modifying and education > drug treatment ideally.
behavioural - structured environment, positive reinforcement, cognitive approaches focussed on relaxation and self-control.
drug therapy - methylphenidate (Ritalin). important SEs are slowing of growth and hypertension. should have drug holiday once a year.
301
what is the classic triad of autism?
- delayed and abnormal language
- difficulty relating to others - poor social reciprocity
- restricted, stereotyped interests and activities
M>F
302
what are the clinical features of autism?
- impaired social interaction - poor interactions with others and avoiding eye contact
- impaired communication - delayed speech and language development with poor comprehension
- restricted pattern of behaviour and interests - stereotypical patterns and lack of imaginative play and behaviour
- onset before 3 years of age
also - learning disability, epilepsy.
303
what conditions are associated with autism?
fragile X syndrome
tuberous sclerosis
untreated phenylketonuria
304
briefly explain management of autism
```
no drug treatments (apart from AEDs if needed)
some symptomatic treatments though.
special educational programmes.
behavioural treatment.
parental support.
```
305
briefly explain what anorexia nervosa is
ED characterized by - refusal to maintain an expected bodyweight for height with weight less than 85% of expected bodyweight.
intense fear of gaining weight/being fat.
disturbed body image - feels fat but actually emaciated.
denial of danger of serious weight loss/low body weight.
amenorrhoea for at least 3 cycles.
306
what signs might you see on physical examination of a teenager with anorexia nervosa? what about lab results?
- emaciation and muscle wasting
- fine lanugo hair over trunk and limbs
- bradycardia and poor peripheral perfusion
- slowly relaxing tendon reflexes
labs - reduced plasma proteins, vit B12 and ferritin. elevated cortisol, reduced T4/FSH/:H
307
what is bulimia?
ED characterised by:
- recurrent eps of binging with uncontrolled overeating
- preoccupation with control of body weight
- regular use of purging/starvation/over-exercise
308
what blood results would you classically see in CAH?
hypocalcaemia - due to hypocortisolism
hyponatraemia - due to hypoaldosteronism
hyperkalaemia - due to hypoaldosteronism
elevated 17alpha-hydroxyprogesterone
309
what are the features of achondroplasia?
- mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene
results in abnormal cartilage giving rise to:
- short limbs (rhizomelia) with shortened fingers (brachydactyly)
- large head with frontal bossing and narrow foramen magnum
- midface hypoplasia with a flattened nasal bridge
- 'trident' hands
- lumbar lordosis
