Paeds Flashcards
Learn it
Cystic fibrosis inheritance pattern and gene with mutation
autosomal recesive
cystic fibrosis transmembrane conductance regulator gene (CFTR gene)
Life expectancy of cystic fibrosis
Mid thirties-forties
Presenting sx in CF
Meconium ileus (often first sign)
GIT - failure to thrive, pancreatic disease, intestinal obstruction
Resp - obstructive lung disease with bronchiectasis, recurrent productive cough/pulmonary infections
Sweat - real salty/electrolyte wasting
MSK - osteopaenia + #
Urogenital - UTI, nephrolithiasis
Investigations for CF
Newborn screening
Sweat test (gold standard - detects hyperchloraemic sweat) –> abnormal/borderline result –> for DNA analysis
* management of CF is supportive
Define bronchiolitis
A clinical syndrome of URTI followed by LRTI in children <2.
Main virus in bronchiolitis
Respiratory syncytial virus
Natural history of bronchiolitis
worsens over 2-3 days –> gradual recovery within 7-10 days - mild cough can persist for ~2weeks
Clinical features suggesting bacterial pneumonia > bronchiolitis
- More lethargic
- Temp >38.5
- Tachycardia
- Tachypnoea
- Low SaO2
- Not eating/drinking
- Cough may be absent
- Focal exam findings (although this is rare)
Management of bronchiolitis
Supportive only - O2 if necessary, IVF, NBM if aspiration risk. Abx if clear evidence of secondary infection.?role of SABA in child >6 months who may have asthma
Croup clinical syndrome
Hoarse voice
Barking cough
Inspiratory stridor
+/- increased WOB
Management of croup
Supportive mostly.
Mild - nil pharm
Mod-severe (increased WOB) - O2 if sats <94, adrenalin neb 1:1000, steroids (systemic pred 1mg/kg, budesonide nebs)
Definition of a simple febrile seizure
- Age 6 months- 6 years
- Generalised tonic clonic convulsion
- Occurs only once in 24 hours
- No post-ictal deficit
- Lasts <15 min
- Mx - treat the child as if it is septic - ie with a full septic screen
Definition of Cerebral Palsy
A non-progressive motor condition characterised by abnormalities of posture, movement and tone due to brain malformation or injury during the developmental period
** non-progressive is important
Classification of cerebral palsy
- Spasticity (75%) - lesion in UMN - really tight/stiff muscles - scissor gait, toe walk
- Dyskinetic (20%) - basal ganglia injury - involuntary movements: dystonia, chorea
- Ataxic (5%) - cerebellar lesion - clumsy, unstable
Diagnosing cerebral palsy
- clinically with exclusion of progressive disorders
- brain MRI >2yo identifies abnormality in 80-90%
- Functional scales describe severity and support levels