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
How common are febrile convulsions? How common are recurrent convulsions?
3% of kids
30% have recurrence
What kids get an EEG after a convulsion?
Focal symptoms
Three most common causes of breathlessness?
Asthma
Bronchiolitis
Croup
Manifestations of cerebral palsy?
Abnormal tone early infancy
Delayed motor milestones
Abnormal gait
Feeding difficulties
Non motor:
- learning difficulties (60%)
- epilepsy (30%)
- squints (30%)
- hearing impairment (20%)
Causes of cerebral palsy?
Antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
Intrapartum (10%): birth asphyxia/trauma
Postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
Management of cerebral palsy?
MDT approach and supportive stuff
Spasticity
- Diazepam
- Intrathecal baclofen
- Surgery
- Anticonvulsants
- Analgesia
Virus in chickenpox?
Varicella zoster
How long is the incubation period and infectivity with chicken pox?
Infective:
- 4 days before the rash, 5 days after the rash appeared.
Incubation period
- 10-21 days
Clinical features of chickenpox?
Fever initially
itchy, rash starting on head/trunk before spreading.
Initially macular then papular then vesicular
systemic upset is usually mild
Types of childhood abuse?
Physical, emotional and sexual abuse, neglect and fabricated or induced illness.
What is scarlet fever, how does it present?
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years
Features
- Fever: typically lasts 24 to 48 hours
- malaise, headache, nausea/vomiting
- sore throat, lymphadenopathy
- ‘strawberry’ tongue ‘white coating’
- rash - fine punctate erythema (‘pinhead/sandpaper’) which generally appears first on the torso and spares the palms and soles.
Definitive investigation in Hirschsprung’s disease?
Ano-rectal biopsy
What is laryngomalacia?
Congenital abnormality of the larynx.
Infants typical present at 4 weeks of age with stridor
What are infantile spasms? How do they present?
Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants.
They are often associated with a serious underlying condition and carry a poor prognosis.
Presentation
Characteristic ‘salaam’ attacks: flexion of the head, trunk and arms followed by extension of the arms.
This lasts only 1-2 seconds but may be repeated up to 50 times
Progressive mental handicap
What causes hand foot and mouth disease?
Coxsackie virus
Clinical features of hand foot and mouth disease?
Mild systemic upset: sore throat, fever
Oral ulcers
Followed later by vesicles on the palms and soles of the feet
Management of hand foot and mouth?
General advice about hydration and analgesia
Reassurance no link to disease in cattle
Children do not need to be excluded from school*
What is Ebstein’s abnormality?
Ebstein’s anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as ‘atrialisation’ of the right ventricle.
Noonan syndrome features?
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Features of patau syndrome?
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Features of edwards syndrome?
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Features of fragile X?
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
Associated with mitral valve prolapse
features of pierre robin?
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Features of Prader-Willi syndrome?
Hypotonia
Hypogonadism
Obesity
Features of william’s syndrome?
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
What is the classical description of a venous hum murmur? Is it pathological?
Continuous blowing noise below both clavicles (benign)
What is a still’s murmur? Is it pathological?
Left sternal edge, low pitched sound, benign
What factors indicate septic arthritis over transient synovitis?
Temperature >38.5C,
Refusal to bear weight on affected limb
Raised inflammatory markers (erythrocyte sedimentation rate >40 mm/hour and CRP > 20.0 mg/litre)
A peripheral white cell count of > 12.0 x 109 (normal range 3.5 – 10.5 x 109 cells per cubic litre)
Nits treatment?
Treatment is only indicated if living lice are found.
a choice of treatments should be offered:
Malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone
No school exclusion
What are the four primitive reflexes, when do they typically disappear?
Moro
- Arms abduct then adduct when head extended
- 3-4 months
Grasp
- 4/5 months
Rooting
- breastfeeding
- 4 months
Stepping
- what it says on the tin
- Birth to 2 months
Croup caused by…?
Parainfluenza virus