Other Paediatric Conditions Flashcards
(204 cards)
1
Q
(nephrology)
A child has a fever, vomiting, and offensive smelling urine on presentation. What should the first investigative step be?
A
Urine dipstick
2
Q
What is the main diferential diagnosis for and urine dipstick with: \+ve leukocytes \+ve nitrites 1+ blood 1+ protein
A
UTI
3
Q
When nitrites are negative on a dipstick in children, why can a UTI not be ruled out?
A
The bacteria and urine need to be in contact for a few hours before enough nitrites are present to show up. Children often empty their bladders more frequently than that, specially at a very early age.
4
Q
If a urine dipstick is positive, what should the next step be?
A
Urine microscopy - can sometimes see bacteria, and will see white cells with UTI.
5
Q
Why do we do this extra step, instead of just getting a urine culture?
A
Cultures can take around 48 hours and a child might become septic in that time.
6
Q
What are the causes of recurrent UTIs in infants?
A
- Vesicoureteral reflux
- Hydronephrosis
- Dysfunctional voiding
- Infrequent urination (may be psychological)
7
Q
If recurrent UTIs are a problem in infants due to structural problems, what can we do?
A
Give prophylactic trimethoprim up until ~age 3 when structural problems seem to resolve
8
Q
If a structural abnormality is suspected as a cause of recurrent UTIs in children, what should the next step be?
A
USS to find the cause
9
Q
What is a micturating cystourethrogram?
A
Scan of bladder and kidney using contrast as the gold standard of vesicoureteric reflux.
10
Q
Who should we do micturating cystourethrograms on, and why not anyone else?
A
Infants under 1 year of age, as it is very unpleasant and only under 1 year olds won’t remember or be traumatised by it.
11
Q
A child presents with facial and abdominal swelling, and reduced urine output.
What are the next steps?
A
Perform observations and examination, and do urinalysis.
12
Q
A child presents with facial and abdominal swelling, and reduced urine output.
Obs are normal for his age. He is well perfused but has ascites and oedema.
What investigation results would lead us to believe this child has nephrotic syndrome?
A
Proteinuria on urine dipstick
Hypoalbuminaemia on blood tests
13
Q
What is the triad of nephrotic syndrome?
A
Proteinuria
Hypoalbuminaemia
Oedema
14
Q
How do we treat idiopathic childhood nephrotic syndrome?
A
Steroids - most is steroid sensitive, so try them all on steroids, and see if there’s a response. If not, there is another pathway.
Oral prednisolone
15
Q
(genetics)
Define Down’s syndrome and its pathophysiology.
A
Congenital disorder caused by a trisomy 21, characterised by intellectual impairment and physical abnormalities.
16
Q
What is trisomy 21?
A
An extra copy of the entire 21st chomosome.
17
Q
Where does the extra 21 usually come from in Down’s syndrome?
A
The mother i.e. it is maternally derived.
18
Q
What is the incidence of Down’s syndrome?
A
1 in 650-1000 newborns
19
Q
A mother is screened for her risk of having a child with Down’s syndrome.
What is the strongest risk factor for Down’s syndrome, and what else do we need to know?
A
Maternal age is the strongest risk factor.
Any family history of the syndrome?
20
Q
A mother aged 27 wants to know her risk of having a child with Down’s syndrome.
At her age, what is the risk?
If she were 37, what would her risk be then?
A
At 27 -> 0.84 per 1000
At 37 -> 4.72 per 1000
21
Q
You examine a baby who you are told has Down’s syndrome.
In the face and head alone, what signs would you expect to find?
A
- Brachycephaly (short skull with flat back of head)
- Oblique palpebral fissures (upslanting eyes)
- Epicanthic folds (skin fold of the upper eyelid covering the inner corner of the eye)
- Small, neat ears
- Flat nasal bridge
- Protruding tongue
- High arched palate
22
Q
You examine a baby who you are told has Down’s syndrome.
In the neck, hands and feet, what signs would you expect to find?
A
Neck - loose skin at the nape.
Hands - single palmar creases, incurved little fingers, short fingers.
Feet - sandal-gap (gap between hallux and second toes)
23
Q
What 2 major internal defects are strongly associated with Down’s syndrome?
A
- Congenital heart defects
- Duodenal atresia
24
Q
A child with Down’s syndrome doesn’t appear to be putting on weight in the weeks after birth.
What problem may they be experiencing?
A
Feeding problems
Constipation
Hypotonia
25
You examine a baby who you are told has Down's syndrome.
What general signs might you elicit on examination?
- Hyperflexibility
| - Muscular hypotonia
26
Later on in life, what problem may people with Down's syndrome experience?
Early onset Alzheimer's
27
You examine a baby with Down's syndrome and notice that her nasal bridge is flat, and she has brachycephaly.
What problems may this lead to in life?
Blocked tubes around the face -> glue ear, upper airway obstruction, obstructive sleep apnoea, sinusitis, pharyngitis.
28
A newborn baby has trisomy 21, and needs to be screened. What screening do we do for him?
- Echocardiogram
- Hearing screen
- TSH and free thyroxine for subclinical thyroid disease
- FBC -> acute leukaemia, polycythemia, and transient myeloproliferative disorder.
29
What is the most common cardiac defect associated with trisomy 21?
AVSD
30
A newborn with trisomy 21 has an abnormal hearing screen.
What % of pts with Down's syndrome have some form of hearing loss?
90%
31
A child with Down's syndrome comes into a GI clinic.
Without any more information, form a list of things this child might be here with.
- Constipation
- Oesophageal or duodenal atresia
- Hirschsprung's disease
- Imperforate anus
- GORD
32
Tell me about the prognosis of Down's syndrome.
Much better than it used to be.
Median age of death is mid 50s.
Most mortality due to cardiac issues (existing or new), and respiratory infections.
33
Who is offered screening for Down's syndrome?
All women of all ages who see a healthcare professional while pregnant.
34
A pregnant lady is screened for Down's syndrome in her baby.
She comes out at a high risk. What is the next stage for her, should she choose to find out more?
Offered diagnostic testing by amniocentesis (over 13 weeks gestation) or chorionic villus testing (under 13 weeks).
35
What is the balance when thinking about screening women for Down's syndrome in their babies?
Risk of invasive procedure causing miscarriage vs identifying women with a high enough risk to justify an invasive test.
36
(ENT)
A parent brings their 7 year old child in to the GP because they are experiencing ear pain and a sore throat.
Form a list of differentials.
Ear - otitis externa, otitis media, mastoiditis, perforated eardrum.
Nose - sinusitis
Throat - acute tonsillitis, epiglottitis
Other - teeth/jaw, all of above associated with a URTI
37
A parent brings their 7 year old child in to the GP because they are experiencing ear pain and a sore throat.
O/E of ENT, you see bilaterally inflammed and red tonsils, with exudate present.
What is your initial management?
- Determine whether likely viral or bacterial using the Centor criteria.
- Supportive Rx - paracetamol and ibuprofen
- Check for systemic symptoms e.g. dehydration an manage these symptoms
38
What are the Centor criteria?
- Pus on tonsils
- Pyrexia
- No cough
- Tender cervical lymph nodes
A score of 4 suggests possible bacterial cause -> abx.
39
What centor score is required for use of abx in tonsillitis?
4 (sometimes 3 depends on the full clinical picture).
40
What % of tonsillitis is bacterial?
Only 30%
41
What % of tonsillitis resolves within a week without treatment?
90%
42
If we investigate tonsillitis at all, what can we do?
Throat swab for Group A haemolytic Strep
43
A parent brings their 7 year old child in to the GP because they are experiencing ear pain and a sore throat. They report no cough.
O/E:
- red tonsils with exudate
- temperature of 39 degrees
- Tender lymph nodes in neck.
What is their centor score and how will you treat?
4, meets all the criteria for trying antibiotics.
Penicillin V (phenoxymethylpenicillin) or erythromycin in pen. allergic.
44
A child is brought to A+E with a sore throat, a high fever, and drowsiness with decreased food intake.
Form a list of differentials.
- Tonsilitis
- Quinsy
- URTI
- Common cold
- Glandular fever
- Epiglottitis
45
A child is brought to A+E with severe throat pain, a high fever, and drowsiness with decreased food intake.
O/E of the throat, there is a unilateral swelling and a deviated uvula.
What is this, and what other complications of tonsillitis can occur?
Untreated bacterial tonsillitis -> Quinsy/peritonsillar abscess
Can also get:
- Otitis media
- Ear pain
- Dehydration from inability to swallow
46
What should be avoided if we suspect tonsillitis is possible?
Amoxicillin should be avoided!!
47
Why should we avoid amoxicillin if tonsillitis is a differential?
If it turns out to be glandular fever, this plus amoxicillin -> nasty urticarial rash
48
(surgery)
A child falls off their bike onto their outstretched arm.
What injuries and fractures are common in children who do this?
- #Clavicle
| - Supracondylar #-
49
Which upper limb # do you see pretty much only in children?
Supracondylar #
50
A mother pulls her child out of the way of a passing car by grabbing the child's arm.
What injury is this child likely to have if they turn up to A&E?
Pulled elbow (aka Nursemaids elbow)
Radial head slips from joint socket -> pain and inability to use the arm.
51
What is the most common childhood cancer?
Acute Lymphoblastic leukaemia
52
A 4 yo boy presents to his GP with tiredness, lymphadenopathy in his neck, and bone pain.
What other signs/symptoms do you need to find out about?
```
Infections
Bruising/bleeding
Rash
Pallor
Splenomegaly
Hepatomegaly
Testicular swelling
Fever
Weight loss
Night sweats
```
53
A 4 yo boy presents to his GP with tiredness, lymphadenopathy in his neck, and bone pain.
What findings in GP would prompt an urgent referral to haematology for assessment?
Unexplained hepatosplenomegaly or petechial rash
54
A 4 yo boy presents to his GP with tiredness, lymphadenopathy in his neck, and bone pain.
What findings in GP would prompt an urgent FBC and referral under the 2ww guidelines?
Unexplained:
- pallor
- persistent fatigue
- fever
- persistent infection
- generalised lymphadenopathy
- bruising
- bleeding
- bone pain
55
A 4 yo boy presents to his GP with 2 weeks sudden onset tiredness, lymphadenopathy in his neck, and bone pain.
What blood tests would we do to investigate suspected ALL? Justify each investigation.
- FBC for Hb, WCC, Plts
- Clotting (DIC)
- Blood film (blast cells)
- LDH (raised in rapid cell turnover)
- LFTs and U&Es (incase need to start chemo, and for renal function)
- Appropriate investigations if infection present
56
Other than blood tests, what investigations can we do for suspected ALL?
Justify each one.
CXR - mediastinal mass, pneumonia, or lytic bone lesions.
Testicular USS if indicated (enlarged).
ECG/Echo
57
What more specific haematological tests can we do to diagnose/rule out ALL?
Bone marrow aspirate/biopsy
| Immunophenotyping by flow cytometry
58
How can we manage ALL?
Supportive Management
| Chemotherapy
59
How long is the treatment regime for ALL?
What are the stages of the regime?
3-4 years (longer for boys)
Induction of remission, consolidation/intensification, and maintenance.
60
What supportive treatments may be needed for a child with ALL?
```
Blood cell replacement (RBCs, platelets)
Growth factors e.g. GCSF
Antibiotics/antifungals for opportunistic infection
Allopurinol
Central venous access established
```
61
Why do we give allopurinol to ALL patients?
To control uric acid levels.
62
A 5 year old girl with known ALL is on chemotherapy. A routine blood test shows low calcium and high potassium.
What else might be deranged, and why is this?
High uric acid and phosphate levels.
This is due to tumour lysis syndrome.
63
A 5 year old girl with known ALL is on chemotherapy. A routine blood test shows low calcium and high potassium, phosphate, and urea.
What do we want to do to manage this complication?
- Give allopurinol for urate levels. Rasburicase given if WCC high.
- Place her on a tumour lysis syndrome fluid regime to wash out and protect kidneys.
- Manage hyperkalaemia if severe with ECG, insulin + glucose IV, and take K out of fluids, give IV calcium gluconate for cardioprotection.
- Monitor
64
What age groups have worse prognosis for ALL in children?
Those diagnosed under 2 years or over 10 years of age.
65
What site is common for disease to be present in in ALL remission?
Why?
CNS
Cytotoxic drugs penetrate CNS poorly, so intrathecal chemo is needed to prevent CNS relapse.
66
Why might an infant be iron deficient from diet?
Breastfeeding without iron supplementation
67
What pattern on bloods does iron deficiency anaemia follow?
- Microcytic, hypochromic red blood cells
- Increased transferrin/TIBC
- Low ferritin
68
What signs can you look for in a tired child that might indicate iron deficiency anaemia?
- Brittle nails
- koilonychia
- Swollen or sore tongue
- angular cheilosis
69
What Hb is considered anaemia in neonates?
Hb <140g/L
70
What Hb is considered anaemia in infants under 12 months?
Hb <100g/L
71
What Hb is considered anaemia in children aged 1-12 years?
<110g/L
72
What are the 3 main causes of iron deficiency anaemia?
- Inadequate intakes
- Malabsorption
- Blood loss
73
What is the management of iron deficiency anaemia?
- Dietary advice
- Supplement with oral iron
- Blood transfusion if severe
74
What dietary advice do we give for parents to help treat iron deficiency anaemia?
- Breast milk or infant formula better than cow's milk.
- Solids supplemented with iron (ony 1% absorbed).
- Red meat or oily fish, and pulses, beans, dark green veg, and wholemeal products good.
Avoid lots of cows milk (in infants), tea, and high fibre foods.
75
When do most children achieve day and night time continence by?
3 or 4 years of age
76
What are the 2 types of nocturnal enuresis?
Primary (never achieved continence) and secondary (had previously been dry for 6 months +)
77
A mother brings her 3 year old in. She is concerned they're still wetting the bed at night.
What can you do?
Reassure her that up until they turn 5, nocturnal bed wetting can still be normal.
Can give lifestyle advice and tell them to come back if it doesn't resolve by age 5.
78
A mother brings her 5 year old in. She is concerned they're still wetting the bed at night. This is the first time they have presented.
What can you do?
3 things:
1. Look for a possible cause/trigger
2. Lifestyle - Dietary and toileting behaviour advice.
3. Enuresis alarm as under 7.
79
What tirggers/causes might there be for nocturnal enuresis?
Constipation
UTIs
Diabetes mellitus
80
What lifestyle advice can be helpful in nocturnal enuresis?
- Restrict fluid intake before bed.
- Dietary changes to prevent constipation.
- Toileting before bed.
- Reward system for agreed behaviours (rather than dry nights)
81
If a child with nocturnal enuresis is still bed wetting after a trial of lifestyle changes, reward systems, and enuresis alarms use, what can we trial?
Desmopressin
82
What can cause secondary nocturnal enuresis?
Emotional stress
Bladder infection
Structural defect
83
A child presents to the GP with dysuria, frequency, and vomiting/abdominal pain. Urine dip is positive for leucocytes and nitrites.
What is the management in a:
1. 2 month old
2. 6 month old with loin pain and fever
3. 8 year old
1. Under 3 months -> refer to paediatrics immediately
2. Over 3 months with upper UTI symptoms -> consider admission, or 7-10 day course of oral abx
3. Over 3 months -> 3 day course of oral abx according to local policy
84
What are the features associated with foetal alcohol syndrome?
```
Microcephaly
Smooth filtrum
Short palpebral fissure
Learning difficulties
Growth retardation
Epicanthic folds
```
85
What genetic condition is characterised by the genotype (45, X) or (45, XO)?
Turner’s syndrome
86
A teenage girl is brought to her GP because the mother is concerned she is a lot shorter than her colleagues at school. You plot her height on a growth chart and see she is below the 4th centile.
Which genetic conditions might you be considering?
(Familial short stature)
Turner’s syndrome
Pradaer-Willi Syndrome
Noonan Syndrome
87
A teenage girl is brought to her GP because the mother is concerned she is a lot shorter than her colleagues at school. You plot her height on a growth chart and see she is below the 4th centile.
What features on examination might lead you to suspect Turner’s syndrome?
Go head to toe
- High arched palate
- Webbed neck
- Shield chest & wide spaced nipples
- Heart murmur
- Lymphoedema
88
A teenage girl is brought to her GP because the mother is concerned she is a lot shorter than her colleagues at school. You plot her height on a growth chart and see she is below the 4th centile.
What other features in the history would lead you to suspect Turner’s syndrome?
- Primary amenorrhoea
| - Autoimmune disease such as thyroiditis or Crohn’s disease in the PMHx
89
A teenage girl is brought to her GP because the mother is concerned she is a lot shorter than her colleagues at school. You plot her height on a growth chart and see she is below the 4th centile.
You do some blood tests. What might you find?
- Low T3/4
| - Elevated gonadotrophins
90
A young girl has been diagnosed with Turner’s syndrome.
What management can we do?
1. Growth hormone if detected before growth plates fused.
2. Oestrogen at pubertal age for secondary sexual characteristics
3. Genetic counselling
4. Fertility counselling
91
Why do we need to consider fertility counselling for girls with Turner’s syndrome?
Ovarian defects caused by 45, XO usually result in infertility.
Oestrogen therapy can help, but may need IVF or donated ova for pregnancy to be possible.
92
Are all patients with Turner’s syndrome infertile? Why/why not?
No - it is a spectrum of severity from true 45, X to 46,XX with mosaicism in the patient so they have a normal cell line in many cells.
Patients with considerable mosaicism have a good chance of being fertile.
93
What is the most common form of muscular dystrophy?
Duchenne’s muscular dystrophy
94
What inheritance pattern does Duchenne’s muscular dystrophy exhibit?
X-linked recessive
95
What is the prognosis for Duchenne’s muscular dystrophy?
Most boys do not survive beyond adolescence.
Often in a wheelchair by age 10.
96
What is the pathophysiology of Duchenne’s muscular dystrophy?
Mutation of DMD gene -> lack of dystrophin.
Dystrophin connects muscle fibres to basal lamina and regulate Calcium entry into the cell.
High calcium within the cell leads to oxidative stress -> cell death.
97
A 5 year old boy is brought to the GP with an abnormal gait which has been progressing for a year. He struggles to stand from chairs, and his parents have noticed his calf and thigh muscles have started wasting.
What are you worried about here?
Duchenne’s muscular dystrophy
98
How many boys with DMD also have developmental delay?
1/3 of cases
99
A 5 year old boy is brought to the GP with an abnormal gait which has been progressing for a year. He struggles to stand from chairs, and his parents have noticed his calf and thigh muscles have started wasting.
What else might you find out from the history?
Trouble climbing stairs
Clumsiness
Waddling gait
General motor skill difficulties
100
A 5 year old boy is brought to the GP with an abnormal gait which has been progressing for a year. He struggles to stand from chairs, and his parents have noticed his calf and thigh muscles have started wasting.
What might you find O/E of the boy?
Evidence of skeletal deformity
Waddling gait
Trouble getting up from chair
Motor skill problems
Gower’s sign positive
101
A 5 year old boy is brought to the GP with an abnormal gait which has been progressing for a year. He struggles to stand from chairs, and his parents have noticed his calf and thigh muscles have started wasting.
How should we investigate suspected DMD?
Blood tests - elevated creatinine kinase
EMG
Refer to genetics for testing and counselling.
102
What is Gower’s sign?
Ask the child to squat or lie prone on the floor. Then ask them to stand up.
If they need to “walk” themselves up their body to stand up, the test is positive as this indicates proximal muscle weakness.
103
What treatments can be used to help children with DMD?
1. Corticosteroids (use aggressively for good management).
2. Physiotherapy
3. Mechanical ventilation in later stages
104
What is periorbital cellulitis?
A infection of the soft tissues around the orbit characterised by erythema and oedema.
105
Who gets periorbital cellulitis?
Primarily children and adolescents.
It is also twice as common in males as it is in females.
106
What might a child presenting with peri-orbital cellulitis have at the same time?
A sinus-related infection/URTI
107
What are the 2 forms of peri-orbital cellulitis, and what is the difference?
Pre-septal and post-septal.
Separated anatomically by the orbital septum (pre- is anterior = confined to the eyelid, post- is posterior = within the orbit)
108
In most cases of periorbital cellulitis, where has the infection spread from?
Contagious spread from surrounding periorbital structures (often paranasal sinuses).
109
Which sinusitis is usually responsible for periorbital cellulitis? Who is this especially true in?
Ethmoidal sinusitis.
Especially true in neonates as frontal sinuses haven't fully formed yet.
110
Why are children at increased risk of periorbital cellulitis spreading from paranasal sinuses?
- Lamina papyracea (bone between orbit and ethmoid sinus) is thinner and prone to breaking.
- Increased venous supply
- Incomplete immunologic development
111
Other than sinusitis, what causes of periorbital cellulitis are possible?
```
Other local infections (dacryocystitis/endophthalmitis)
Trauma/foreign body
Dental infection
Insect bite
Skin infection
Eyelid lesion
Eyelid/oral procedures (iatrogenic)
```
112
What is the most common pathogen that causes periorbital cellulitis?
Staph. aureus
113
How would you clinically distinguish between pre-orbital and orbital cellulitis?
Ask about and examine for orbital signs.
Absence of orbital signs would suggest pre-orbital.
114
What orbital signs would a child with orbital cellulitis exhibit?
- Proptosis
- Opthalmoplegia
- Decreased visual acuity
- Loss of red colour vision
- Painful diplopia
- Chemosis (swelling of conjunctiva)
115
What general features suggest peri-orbital cellulitis?
Hx of acute sinusitis/URTI in preceding days.
Acute onset:
- Eyelid oedema
- Erythema of upper eyelid.
Erythema may spread to upper cheek and brow area.
116
What is the classification system used for peri-orbital cellulitis and how many classes are there?
Chandler classification with 5 classes.
117
What are the 5 Chandler classifications of peri-orbital cellulitis?
I - Pre-septal
II - Post-septal/orbital
III - Subperiosteal abscess
IV - Intra-orbital abscess
V - Cavernous sinus thrombosis
118
A child presents to A+E with periorbital cellulitis, and does not seem well.
What investigations do you want to do and why?
Sepsis screen.
CT to confirm extent of disease, usually if neurological signs.
Swab any discharge present.
119
A child presents to A+E with a swollen eyelid, redness around the eye, and abnormal vision.
Form a list of differentials.
```
Periorbital cellulitis
Vesicles of herpes zoster opthalmicus
Stye
Dacryocystitis
Blepharitis
Atopic or contact dermatitis
```
120
How is mild pre-septal periorbital cellulitis managed?
Outpatient basis with broad-spec antibiotics with close followup.
Often co-amoxiclav
121
How is orbital cellulitis managed?
```
Admission to hospital
IV abx
Nasal decongestants
Steroid nasal drops
Nasal douching
```
122
When would we do an urgent drainage in periorbital cellulitis?
- Compromised optic nerve or retinal function
- Large abscesses
- Intracranial complications at time of presentation
- Frontal sinusitis
123
How can the complications of periorbital cellulitis be divided?
Vision-related complications and life-threatening intracranial complications.
124
What vision-related complications can occur in peri-orbital cellulitis?
Loss of vision (varying degrees)
Residual asymmetrical eyelid opening
Impaired ocular motility
Eyelid inflammation
125
What life-threatening/intracranial events can occur secondary to periorbital cellulitis?
Encephalomeningitis
Cavernous sinus thrombosis
Sepsis
Intracranial abscess formation
126
Why does foetal alcohol syndrome occur?
Maternal consuption of alcohol during pregnancy = teratogenic
127
What are the 3 main categories of signs of foetal alcohol syndrome?
- Failure of growth
- Craniofacial abnormalities
- Neurodevelopmental abnormalities
128
What is the prognosis associated with foetal alcohol syndrome?
- With age craniofacial abnormalities become less apparent, but short stature and microcephaly remain.
- Educational achievement limited
- Poorer relationships in later life
- Psychological difficulties
- Associated with turbulent home life if parents have alcohol problems
129
What is Marfan's syndrome?
An inherited connective tissue disorder caused by a mutation in the FBN1 gene (fibrillin gene)
130
What is the inheritance pattern associated with Marfan's syndrome?
Autosommal dominant
131
What are the systems mainly affected by Marfan's?
```
Skeletal
Derm
Cardiac + Aortic
Ocular
Dura mater
```
132
How common is Marfan's?
Affects 2-3 in 10,000 of the population.
Equally prevalent in males and females.
Most common inherited connective tissue disorder.
133
What symptoms of Marfan's might cause a parent to be concerned, or be picked up on routine examination?
Disproportionately tall and thin.
Arms and legs long compared to trunk.
Long "spidery" fingers and toes.
134
What are the sign's of Marfan's seen in the skin?
Striae, esp. in thoracolumbar and sacral area.
135
What are the cardiovascular consequences of Marfan's?
- Aortic dilation -> rupture/dissection
- Aortic regurg
- Mitral valve prolapse
- Mitral regurg
- AAA
- Cardiac arrythmia
136
What are the pulmonary consequences of Marfan's?
Pleural rupture causing pneumothorax.
137
What are the ocular consequences of Marfan's?
lens dislocation
Closed-angle glaucoma
High myopia
138
What is the Walker's sign for Marfan's?
What does this demonstrate?
The patient encircles the wrist of their opposite hand with the little finger and thumb, which overlap.
Arachnodactyly
139
What is the Steinberg thumb sign for Marfan's?
What does this demonstrate?
A flexed thumb grasped within a clenched palm protrudes beyond the ulnar border of that hand.
Arachnodactyly
140
How should Marfan's be investigated?
Ech
CT to show whole aorta
ECG if symptomatic
141
Who manages a Marfan's patient?
It is MDT:
- Paediatrician
- Geneticist
- Ophthal
- Cardiologist
- Orthopaedic surgeon
142
What non-drug therapy can be given to support at pt with marfan's?
- Psychological support
| - Avoid maximal exertion or contact sports
143
What drug therapies can be given to support a pt with Marfan's?
- Beta blocker (yes even as a child)
| - Losartan (inhibits aorti root dilation)
144
What surgical options can be given to support a pt with Marfan's?
- Supportive i.e. treat eye problems like dislocated lens as they come along.
- Monitor aorta in later life
145
When is the risk of aortic rupture at its greatest in a woman with Marfan's?
Pregnancy - need to councel the mother as of that as well as the 50% chance that the child will get the condition.
146
Do pts with Marfan's who need surgery during childhood have a good or bad long term outcome?
Relatively good.
147
Why does diabetes mellitus type 1 occur?
Body's failure to produce sufficient insulin
148
What are the factors that predispose someone to type 1 diabetes?
Genetic predisposition and autoimmunity
149
How does insulin deficiency occur in type one diabetes?
Autoimmune destruction of beta cells of pancreas leading to absolute insulin deficiency.
150
At what age does type 1 diabetes manifest?
It can be at any age, but juvenile onset is most common.
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What is the main management for type 1 diabetes?
Insulin treatment
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What complication are pts with type 1 diabetes at risk of?
Diabetic ketoacidosis
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What kind of diabetes is most common in children?
90% of diabetes in under 25s is type 1 but type 2 incidence is on the rise
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What are the symptoms of diabetes in children?
Polydipsia, unexplained weight loss, nonspecific malaise
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What are the signs of diabetes in children?
Hyperglycaemia, glucosuria
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How is diabetes diagnosed in children?
Fasting plasma glucose over 7.0 mmol/L OR 2 hour plasma glucose over 11.1 mmol/L 2 hours post OGTT OR random plasma glucose over 11.1 mmol/L with classic symptoms.
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How should diabetes in children be monitored long term?
HbA1c
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What are the benefits of tight glycaemic control in children?
Reduce rates of microvascular complications and overall mortality.
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How many injections of insulin do children with T1DM typically need in a day?
Most need 2 or more based on self-monitored levels.
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What are the forms in which insulin can be administered?
Long acting or intermediate acting as a basal insulin level, and rapid acting or short acting as preprandial (pre-meals) treatment.
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What is the aim of insulin therapy in children with type 1 diabetes?
To keep blood lgucose within the reference ranges and avoid hyperglycaemia and hypoglycaemia.
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Why is diet important in children with type 1 diabetes?
It can affect blood sugar - a balanced diet should be given to avoid spikes in blood sugar.
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How much exercise should a diabetic child get?
Plenty! Regular exercise is encouraged.
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How should mild hypoglycaemia be managed?
Give rapidly absorbed oral carbohydrate or glucose - this means if the pt and parents aren't worried, they can manage it at home.
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How should severe hypoglycaemia be managed?
IM injection of glucagon, or IV glucose therapy.
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What can overtreatment of hypoglycaemia lead to?
Cerebral oedema and death
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What is the renal threshold for glucose resorption?
10 mmol/L
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What is DKA?
A medical emergency complication of type 1 diabetes where in the absence of insulin, the pt becomes progressively more hyperglycaemic and dehydrated with increased production of ketones to aloow for glucose sparing for the brain. High levels of ketones causes acidosis of the blood.
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What complications are associated with ketoacidosis?
Cerebral oedema, death
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How does DKA present?
Nausea, vomiting, abdominal pain, and symptoms similar to food poisoning, or with respiratory distress. Can present with normal blood sugars if they have insulin pumps.
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Why is it recommended that insulin be injected into various different sites and not the same one all the time?
To prevent injection-site hypertrophy.
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How common are other autoimmune disorders alongside type 1 diabetes?
Celiac disease affects 5% of children with T1DM, Hypothyroidism occurs in 2-5% of children with T1DM, hyperthyroidism 1%, and Addisons 1%.
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What is PKU?
Phenylketonuria is an inborn error of amino acid metabolism caused by absent phenylalanine hydroxylase enzyme activity.
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Which enzyme is not converted to which other enzyme in PKU?
Phenylalanine is not converted to tyrosine.
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What causes the symptoms of PKU?
Build up of phenylalanine in blood to above a neurotoxic threshold, and tyrosine deficiency.
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How is PKU inherited?
Autosomal recessive
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How are most cases of PKU picked up?
Screening at birth through heel-prick blood assay.
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How do children with PKU tend to look?
Very fair with pale blue eyes, even in families with dark hair an brown eyes.
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How does PKU present if it is not picked up at birth?
Progressive developmental delay and general learning disability. Other symptoms such as recurrent vomiting, musty odour, and seizures may also present.
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How should PKU be managed?
Under a specialist clinic with strict dietary protein restriction and substitution of essential amino acids including generous amounts of tyrosine.
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What is the prognosis like for PKU?
Poor if left untreated, excellent if they adhere to dietary and other therapies, and intelligence is often normal/near normal.
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What are normal blood pressure values in children based on?
Age, sex, and height
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What is considered hypertension in children?
Systolic BP above 95th centile for their demographic group.
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How could paediatric hypertension be misdiagnosed?
Use of the wrong size BP cuff or incorrect placement of cuff.
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Why is paediatric hypertension on the rise?
Obesity is increasing.
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What are the complications of hypertension in childhood?
Organ damage e.g. left ventricular hypertrophy, carotid vessel thickening, retinal damage, cognitive changes.
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What are the risk factors for childhood hypertension?
High salt intake, obesity, low birth weight, FHx, male gender, maternal smoking during pregnancy.
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What % of childhood hypertension is secondary?
85% - it is much more likely than primary unlike in adults.
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What are some causes of secondary HTN in children?
Renal artery stenosis, renal parenchymal disease, coarctation of the aorta, Cushing's, hyperthyroidism, medications, drug abuse, mineralocorticoid excess, obstructive sleep apnoea, phaeochromocytoma.
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How does paediatric HTN present?
Tends to be picked up incidentally or as investigation for another condition.
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What clues might urine give us about the cause of paediatric HTN?
Albumin or blood may indicate renal disease, exclude infection.
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What bloods can help diagnose the cause of HTN in children?
FBC (anaemia consistent with renal disease), U&Es to assess renal function, K (low -> aldosterone elevated)
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How should HTN in children be managed?
Lifestyle changes (diet, weight loss etc), and treat any underlying cause.
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What is Henoch-Schönlein purpura?
An IgA mediated autoimmune hypersensitivity vasulitis of childhood.
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What are the classical features of Henoch-Schönlein purpura?
Skin purpura, arthritis, abdominal pain, GI bleeding, and nephritis.
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What age group is HSP most common in?
Under 10 years of age, peak between 4 and 6 years.
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What can trigger HSP?
An infection usually, sometimes a vaccination or malignancy.
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Why do the symptoms of HSP occur?
Deposition of IgA complexes in small blood vessels of skin, joints, kidneys, and GI tract.
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When are newborns screened in the UK?
Within first 72 hours of life, then at a GP appointment 6-8 weeks after birth.
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What is done at newborn screening?
General examination to detect a wide range of physical problems
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What are some of the major conditions screened for in newborn screening?
- Congenital cataracts
- Congenital heart disease
- Undescended testes
- DDH
- Hearing problems
- Inborn errors of metabolism
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What is the first hearing screening test done on neonates?
How does it work?
Automated oto-acoustic emission screening test
Sound is played into babys ear gently, and probe detects an echo from the cochlea
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If a baby does not have a clear response to the Automated oto-acoustic emission screening test, what is the next step?
They are referred for automaticed auditor brainstem response screening test.
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How are inborn errors of metabolism tested?
Newborn blood spot screening
