Paeds (passmed) Flashcards
What is achondroplasia? What are it’s features?
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.
This 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
What causes acute epiglottitis?
Haemophilus influenzae type B (Hib)
Features of epiglottitis?
Rapid onset
High temperature, generally unwell
Stridor
Drooling of saliva
What is the most common malignancy in children?
ALL
What are the features of ALL?
Bone marrow failure:
- Anaemia: lethargy and pallor
- Neutropaenia: frequent or severe infections
- Thrombocytopenia: easy bruising, petechiae
And other features
- Bone pain (secondary to bone marrow infiltration)
- Splenomegaly
- Hepatomegaly
- Testicular swelling
What is alpha thalassaemia, how might it present?
There are 4 alpha chains. In thalassaemia you have lost atl 1.
If 1 or 2 alpha chains are absent then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal.
Loss of 3 alpha chains results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease
If all 4 alpha chains absent (i.e. homozygote) then death in utero (hydrops fetalis, Bart’s hydrops)
What are the main causes of ambiguous genitalia?
Congenital adrenal hyperplasia is most common.
Other causes include:
- True hermaphroditism
- Maternal ingestion of androgens
What is the APGAR score made up of?
5 sections. You can get 0-2 for each section, 8-10 is good.
Pulse
- >100 (2)
- <100 (1)
- Absent (0)
Respiratory effort
- Strong, crying (2)
- Weak, irregular (1)
- Nil (0)
Colour
- Pink (2)
- Body pink, extremities ble (1)
- Blue all over (0)
Muscle tone
- Active movement (2)
- Limb flexion (1)
- Flaccid (0)
Reflex irritability
- Cries on stimulation, sneezes/coughs (2)
- Grimace (1)
- Nil (0)
Appendicitis presentation?
Central abdominal pain which later radiates to the right iliac fossa
Low-grade pyrexia
Minimal vomiting
Criteria of a severe asthma attack (children)?
SpO2 < 92%
PEF 33-50% best or predicted
Too breathless to talk or feed
Heart rate:
>125 (>5 years)
>140 (1-5 years)
Respiratory rate
>30 breaths/min (>5 years)
>40 (1-5 years)
Use of accessory neck muscle
Criteria of a life threatening asthma attack (children)?
SpO2 <92%
PEF <33% best or predicted
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
Treatment of a mild-moderate acute asthma attack in children?
Bronchodilator therapy
- give a beta-2 agonist via a spacer (for a child < 3 years use a close-fitting mask)
- give 1 puff every 30-60 seconds up to a maximum of 10 puffs
- if symptoms are not controlled repeat beta-2 agonist and refer to hospital
Steroid therapy
- should be given to all children with an asthma exacerbation
- treatment should be given for 3-5 days
Asthma management in children <5?
< 5 years (different to adults)
- Newly-diagnosed asthma
- Short-acting beta agonist (SABA) - Not controlled on previous step OR Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking:
- SABA + an 8-week trial of paediatric MODERATE-dose inhaled corticosteroid (ICS)
After 8-weeks stop the ICS and monitor the child’s symptoms:
- if symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely
- if symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
- if symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS
- SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
- Stop the LTRA and refer to an paediatric asthma specialist.
Asthma management in children >5?
Basically the same as adults but drop the LTRA at stage 4
- Newly-diagnosed asthma
- Short-acting beta agonist (SABA) - Not controlled on previous step OR
Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking:
- SABA + paediatric low-dose inhaled corticosteroid (ICS) - SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
- SABA + paediatric low-dose ICS + long-acting beta agonist (LABA)
- In contrast to the adult guidance, NICE recommend stopping the LTRA at this point if it hasn’t helped - SABA + switch ICS/LABA for a maintenance and reliever therapy (MART), that includes a paediatric low-dose ICS
- SABA + paediatric moderate-dose ICS MART OR consider changing back to a fixed-dose of a moderate-dose ICS and a separate LABA.
- SABA + one of the following options:
increase ICS to paediatric high-dose, either as part of a fixed-dose regime or as a MART.
A trial of an additional drug (for example theophylline)
seeking advice from a healthcare professional with expertise in asthma.
Management of ADHD?
10 week watch and wait indicated first.
Parenting programmes (NFPP, NVR)
Drug therapy as last resort
- Methylphenidate first, as 6 week trial
- Lisdexamfetamine trial next
- Dexamfetamine if Lis not tolerated.
What are the three cardinal features of ADHD?
Inattention
Hyperactivity
Impulsivity
Three cardinal features of ASD?
Global impairment of language and comprehension
Social interaction difficulty
Fixed interests
General rule with regards to autosomal dominant and autosomal recessive conditions?
Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’.
Exceptions:
Some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant.
Some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive
Features of bronchiolitis?
< 1 year old
RSV
Often in winter
Features:
- Coryzal symptoms (including mild fever) precede:
- dry cough
- Increasing breathlessness
- Wheezing, fine inspiratory crackles (not always present)
- Feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
Management of RSV?
Supportive.
Humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%.
Nasogastric feeding may be need if children cannot take enough fluid/feed by mouth.
Suction is sometimes used for excessive upper airway secretions.
What are the features of concerning non-accidental bruises?
Excessive multiple bruises of different ages
Bruise patterns which may indicate slapping, being gripped tightly (fingertip marks) or the use of inflicting instruments (e.g. belt).
Sites which may raise concern include the face, ears, neck, buttocks, trunk or proximal parts of limbs
What is caput seccedaneum and cephalohaematoma, how do you tell them apart?
Caput is due to trauma, as head pushes through cervix or ventouse delivery.
- Present at birth
- Resolves in days
- Crosses suture lines
Cephalohaematoma is due to bleeding between periosteum and skull.
- Develops in the hours after birth
- Doesn’t cross suture lines
- May take several months to resolve
- May cause jaundice
Both are beingn and treated conservatively
Roughly how much milk per kg should babies receive?
Roughly 150ml/kg
How many mls in an ounce?
30mls