Paediatrics CBLS Flashcards
Patient presenting with dermatomyositis will have what characteristic features:
- Heliotrope eyelid rash
- Malar Rash
- GOTTRON’S papules
- Interstitial lung disease
- Proximal weakness
- trouble raising arms above head
- trouble rising from a chair
When suspecting dermatomyositis it is important to check?
CK
LDH
What scoring system may be used to distinguish septic arthritis from transient synovitis?
KOCHER CRITERIA
- non weight bearing
- fever > 38.5
- ESR > 40
- WBC > 12000
Recap NICE guidelines for suspected leukaemia in children and young people:
REFER of IMMEDIATE specialist attention is:
- UNEXPLAINED PETECHIAE
- OR HEPATOSPLENOMEGALY
Scoring system used for measuring joint hypermobility in children?
the BEIGHTON SCORING SYSTEM
- Looks at fingers
- Thumbs
- Elbows
- Knees
- Spine
What is the definition of JIA?
- autoimmune
- inflammation of synovial membrane
- 6 weeks to 16 years
Typical features of Systemic JIA (Still’s disease)
1. Subtle salmon pink rash
2. High swinging fever (Quotidian fever)
3. Lymphadenopathy
4. Weight loss
5. Splenomegaly
6. Muscle pain
7. Pleuritis, pericarditis
DYSREGULATED INNATE IMMUNE RESPONSE
- increased production of inflammatory cytokines
- major role of increased IL-6 and IL-1
Important investigations when suspecting sJIA
- Blood tests - FBC, ferritin, CRP, ESR, U&Es, LFTs
- CXR –> pleural effusion?
- Cardiac echo –> pericardial effusion / myocarditis
- Urine
- dipstick
- +/- microscopy
- +/- albumin/creatinine ratio - Imaging
- USS abdo
- whole body STIR MRI - Investigations to exclude infection
- blood cultures
- ASOT / throat sab
- Viral PCR / serology - EBV, CMV
- PETS, TRAVEL ? - Investigations to exclude malignancy
- bone marrow
- lymph node
- urine catecholamines
Treatment of JIA
- Anti-inflammatory –> NSAIDS, glucocorticoids
- DMARD –> methotrexate (3 month trial)
- BIOLOGICS
- anti-TNF –> etanercept / adalimumab
- IL-6 blocker –> tocilizumab
- IL-1 blocker –> anakinra
For resistant disease
- TOCILIZUMAB / ABATACEPT
- RITUXIMAB (anti-CD20) (IF RF +ve)
- TOFACITINIB (JAK inhibitor) (oral)
Important complications of sJIA
- Anterior Uveitis
- Growth failure (from steroids and chronic disease)
- flexion contractures
- Macrophage activation syndrome (high ferritin)
What signs may you see in Marfan’s syndrome?
The STEINBERG sign
- folding thumb in palm
The WALKER-MURDOCH sign
- patient puts their hand around other wrist
- if thumb and fifth finger overlap +ve
What is the name of the test used to assess functionality and stability of arch of foot
JACK TEST
Conditions which may predispose a child to easy bruising?
PLATELET ABNORMALITIES
- thrombocytopenia
- Von Willebrand disease:
- decreased vWF –> less clots - Vitamin K deficiency
- Leukaemia / malignancy
What is haemophilia?
Inherited severe bleeding disorders
Haemophilia A
- caused by deficiency in factor VIII
Haemophilia B
- deficiency in factor IX
X-LINKED RECESSIVE
What investigations should be considered for child with easy bruising?
- FULL BLOOD COUNT
- COAGULATION SCREEN
- prothrombin time (EXTRINSIC PATHWAY), coagulation
- Factor (SEVEN) –> activates 10
- activated partial thromboplastin time (INTRINSIC PATHWAY) –> platelet
- Intrinsic is 1,2,5 –> activates 10
Idiopathic thrombocytopenic purpura
Most often acute, following VIRAL infection
Clinical
- petechiae
- gingival bleeding
- epistaxis
- menorrhagia
- GI bleeding
- intracranial haemorrhage
Management
- supportive in children
- PLATELETS –> if severe bleeding or v. low. Platelet count
- corticosteroids
- IVIG, or anti D immunoglobulin
- splenectomy
Thrombotic Thrombocytopenic Purpura
Rare, many small blood clots throughout the body
Deficiency of ADAMTST13
- would normally break up large multimers of vWF
- adhesion and aggregation of platelets to wVF bits
Disseminated intravascular coagulation
accelerated clotting within blood vessels
increased consumption of platelet and clotting factors
uncontrollable bleeding
Haemolytic Uraemic syndrome
Commonly post E COLI infection 0157.
Shiga toxin
- ABDO PAIN
- VOMITTING
- BLOODY DIARRHOEA
then
- haemolytic anaemia
- thrombocytopenia
- AKI
Tx
- mainly supportive
- no ABx
- plasma infusion and plasma exchange
- ECULIZUMAB (if severe CNS involvement)
Viruses which may trigger T1DM?
- coxsackie B
- enterovirus
Different types of insulin available
-
SHORT ACTING SOLUBLE
- 30-60 mins onset
- take 15-30 mins before meal
- try to mirror normal physiology -
Rapid acting human analogues
- even quicker than soluble
- just before or after a meal -
Intermediate and long acting
- take several hours for onset of effect
- last 16-24hrs
- once or twice daily -
Biphasic insulins
- quick onset
- 1 injection
What are the different types of insulin regimes available?
-
Fixed dose once daily
- Long acting or intermediate acting insulin
- BEDTIME
- Only suitable T2DM
-
Fixed dose twice daily
- on assumption patient eats 3 regular meals
- biphasic insulin injected twice daily
- worries about nocturnal hypoglycaemia due to peak trough pattern of evening dose
-
Multiple daily injection basal bolus
- Intermediate or long acting given at night.
- Rapid acting or short acting given at meal times.
- Good flexibility
- used with carbohydrate counting to calculate short/rapid acting dose
-
Insulin pump
- continuous infusion of short acting
- able to give bolus
- adjustable rate
- flexible
Recap the process of carb counting
- carb counting” is the process of calculating the carbohydrate load
- then calculating how many units of insulin you will need to inject to account for this.
NOTES
To do this, use the “500 rule.”
This is 500 divided by the total daily dose of insulin.
So, as an example, let’s say the patient’s total daily dose of insulin is 25 units.
500/25 = 20
Therefore 1 unit of insulin will be sufficient to cover 20 g of carbohydrate in the meal*
What is a correction dose?
- dose of insulin given in addition to usual insulin dose in order to resolve an episode of hyperglycaemia
NOTES
- Initially, this can be calculated based on the “100 rule”
- 100 divided by your total daily dose of insulin = insulin sensitivity factor.
- So, if you are on a total daily dose of 25 units (all forms of insulin, however long-acting they are), then your initial estimated insulin sensitivity will be 4. 1 unit of insulin is estimated to lower blood glucose by 4 mmol/litre.
Problems with giving frequent correction doses
Insulin stacking
- taking rapid acting insulin at close intervals can result in low glucose
- known as over-correcting
Describe the honey moon phase of T1DM
T1DM Honey moon phase
- pancreas able to produce significant amount of its own insulin
- this helps lower blood sugar levels
- thus reducing the amount of insulin needed
- When diagnosed there is still some beta cells which can pump out insulin
- as time passes these beta cells die and pancreas makes less insulin
How might you explain a diagnosis of diabetes to a patient and his parents:
Diagnosis
- Eating carbohydrates causes rise in sugar levels in blood (ideal blood glucose concentration is between 4.4-6.1)
- We have an organ called the pancreas. It has these cells (beta cells) (in the islet of Langerhans) which produce a hormone (building hormone)
- This hormone reduces blood sugar
- Causes cells of body to absorb glucose and use it as fuel
- Muscle and liver cells absorb glucose from blood and store it as glycogen.
- Insulin is important for cells to take up and use glucose.
Glucagon
- Hormone that increases blood sugar levels
- Produced in alpha cells in islet of Langerhans in the pancreas
- Catabolic (breakdown hormone)
- Tells liver to break down glycogen (glycogenolysis)
- Tells liver to convert proteins and fats into glucose (gluconeogenesis)
T1DM
- Where pancreas is unable to produce insulin. The cause is unclear. It can be triggered by certain viruses such as coxsackie B virus and enterovirus.
- There is no insulin produced so cells of body cannot take glucose from blood to use it for fuel
- Therefore cells think body is being fasted.
- Level of glucose keeps rising causing hyperglycaemia
Monitoring
- Encouraging of children to attend clinic 4 times a year with regular contact with diabetes team to help maintain optimal blood glucose
- Importance of eye examinations by opticians
- Regular dental examinations
Treatment
- Multiple daily injection basal bolus insulin regime if appropriate.
- Or a pump.
- Injecting rapid acting insulin analogues before eating.
- Explaining there may be a partial remission phase (honey moon period) during this time they may only need a low dosage of insulin (0.5 units/kg body weight/ day) to maintain an HbA1c level of less than 48
Symptoms of low blood sugar
Symptoms
- Sweating
- Feeling tired
- Dizziness
- Feeling hungry
- Tingling lips
- Feeling shaky or trembling
- Palpitations
- Becoming easily irritated, tearful, anxious or moody
- Turning pale
Treating hypoglycaemia
If blood sugar less than 4mmol/l
- Have a sugary drink (4-5 helly babies, 4-6 glucose tablets, 2 tubes of glucose gel)
- Test blood sugar after 10 mins. If improved then may need to eat main meal containing slow release carb if right time, or snack (toast, biscuits, cows milk)
- If blood sugar not improved then treat with sugary drink or snack and take another reading after 10 mins to 15 mins
Preventing hypoglycaemic episodes
- Ensuring you basal insulin dose is not too high
- Reducing your night time/evening long acting insulin following exercise
- Taking carbohydrate before bed following an evening/night of drinking
- Not missing out dinner or any snacks you would usually have
Normal puberty ages
Average age for girls to start puberty = 11
(can range from 8-13)
Average age for boys = 12
(can range from 9-14)
Early puberty:
- Before 8 in girls
- Before 9 in boys
What staging is used to measure changes in puberty?
TANNER STAGING
What hormones are involved in the start of puberty?
- Hypothalamus releases LHRH (nocturnal pulsatile secretions)
- Causes anterior pituitary —> LH and FSH (pulsatile)
- LH stimulates secretion of sex hormone from gonads
Puberty which proceeds in an abnormal order is known as:
DISCORDANT puberty
Important tests in assessing puberty
BONE health
- sex hormones cause growth plates to fuse
Other important tests
- LH
- FSH
- Testosterone
- GnRH
What factors can influence pubertal development:
- Malnutrition / lack of energy reserves
- Weight loss
- increases ghrelin —> inhibits HPO axis —> alters GnRH from hypothalamus —> reducing levels of LH and FSH
- lower levels of fat —> less leptin —> leptin slows GnRH secretion again reducing activity through HPO axis
Management of Turners syndrome
-
Growth hormone therapy
can be used to prevent short stature -
Oestrogen and progesterone
replacement can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis -
Fertility treatment
can increase the chances of becoming pregnant
How is weakness graded in a MSK examination?
MRC MUSCLE POWER SCALE
5 - normal power
4 - active against gravity and resistance
3 - active movement against gravity
2 - active movement with gravity eliminated
1 - flicker or trace of contraction
0 - no contraction
What is spinal muscular atrophy?
autosomal recessive
Deletion of SMN1
- muscle weakness and atrophy –> respiratory failure and death
Types of spinal muscle atrophy
TYPE 1 –> early death, can’t sit
TYPE 2 –> infant can sit but won’t walk, slower variable progression, usually live to adulthood
TYPE 3 –> onset after 12 months, may have learnt to walk but will lose that ability
TYPE 4 –> adult onset, gradual loss of ability to walk
Treatment options available for SMA
LIMITIED LIFE EXPECTANCY –> needs lots of supportive care
CONSERVATIVE: counselling, support
Medical: NURSINURSEN (not for children ventilated more than 16hrs per day)
Long term ventilation
Secretion management
Feeding tube
Physio and OT
End of life care
Duchenne’s muscular dystrophy
X-linked recessive
Mutation in dystrophin gene
Gradual replacement of muscle by connective tissue and fat
Pseudohypertrophy in calves
GOWERS SIGN
BECKER muscular dystrophy
Milder form
X-linked recessive
Dystrophin gene fault
Slower progression
Myotonic dystrophy
Autosomal dominant
Anticipation!
Contractions that are unable to relax.
Severe neonatal form is DM1
DM2 doesn’t seem to affect babies
Limb girdle muscular dystrophy
Affects hip and shoulder
Many forms that can be inherited
Autosomal dominant or recessive
Differential diagnoses for Spinal muscular atrophy
- Duchenne’s muscular dystrophy
- Becker’s
- Limb girdle muscular dystrophy
- myotonic dystrophy
Bulbar vs Pseudobulbar palsy
BULBAR (LOWER MOTOR NEURONE)
- wasting tongue
- tongue protrudes to weak side
- dysarthria and sometimes dysphagia
PSEUDOBULBAR (UPPER MOTOR NEURONE)
- no wasting
- nasal speech
Bulbar nerves
- glossopharyngeal
- vagus
- accessory
- hypoglossal
