Paeds 8 Flashcards
What are the five autism spectrum disorders?
Autism Asperger’s syndrome Rett syndrome Childhood disintegrative disorder Pervasive developmental disorder not otherwise specified (PDD-NOS)
Which disease in infants can present very similarly to necrotising enterocolitis?
Hirschsprung’s enterocolitis
What does ‘10% glucose’ mean with regards to fluids?
10 g glucose per 100 mL
What is the investigation of choice for suspected SUFE?
Frog-lateral hip X-ray
NOTE: they will have limited hip flexion and abduction
List some complications of Henoch-Schonlein Purpura.
Acute renal impairment Intussusception Arthritis involving ankles and knees commonly Testicular pain Pancreatitis
What is an important first step in the management of acute lymphoblastic leukaemia?
Prevent tumour lysis syndrome
Hyperhydration
Start allopurinol
Which antibiotic should be used for neutropaenic sepsis?
Tazocin
List some clinical features of space-occupying lesions.
Headaches are worse when lying down Morning vomiting Headaches may cause night-time waking Change in mood or personality Change in educational performance Focal neurology (e.g. weakness, visual field defect)
Which age group is most likely to experience a febrile convulsion?
< 6 years
What are some key features of frontal seizures?
Involves motor and pre-motor cortex
May lead to clonic movements
What are some key features of temporal lobe seizures?
Aura Automatisms (e.g. lip smaking) Impaired consciousness
Which diagnostic tests can be used for mumps and rubella?
Serology from blood or oral fluid sample
Which investigations may be used in a child with short stature?
MId-parental height Random GH measurement Insulin tolerance test CT/MRI head scan Bone age (using DEXA or wrist X-ray)
What are some complications of scarlet fever?
Otitis media Acute sinusitis/mastoiditis Streptococcal pneumonia Meningitis Endocarditis Osteomyelitis Rheumatic fever Streptococcal glomerulonephritis
In an acute asthma attack, which other medications may be used if the patient is unresponsive to nebulised SABA and ipratropium bromide?
Magnesium sulphate
Aminophylline
IV salbutamol
IMPORTANT: ECG and electrolytes should be monitored
Who will receive the children’s flu vaccine?
Annually as a nasal spray in september/october for all children aged 2-9 years
When is the 4 in 1 preschool booster given and which vaccines does it contain?
Around 3 years and 4 months Diphtheria Tetanus Pertussis Polio
When is the 3 in 1 teenage booster given and which vaccines does it contain?
14 years
Diphtheria
Tetanus
Polio
What type of murmur does a VSD cause?
Pansystolic heard loudest at the lower left sternal edge (fifth intercostal space)
What type of murmur does a PDA cause?
Continuous machinery murmur inferior to the left clavicle
What should you do first if a child presents to paediatric A&E with infectious diarrhoea, whooping cough or symptoms suggestive of MMR?
Put in a side room
What is spinal muscular atrophy?
Autosomal recessive disorder of anterior horn cells
Leads to progressive weakness and wasting of skeletal muscles
Due to mutation in SMN1
NOTE: Werdnig-Hoffman disease is type 1 SMD
What is Charcot-Marie-Tooth disease?
Hereditary motor sensory neuropathy
Causes symmetrical, slowly progressive distal muscle wasting
May present in preschool children with tripping from bilateral foot drop
What is a key feature of CSF studies in Guillain-Barre syndrome?
High protein
What is myotonic dystrophy?
Autosomal dominant trinucleotide repeat (CTG) disorder
Presents with hypotonia, feeding difficulties, respiratory difficulties and abnormal facies (in older children)
List some causes of ataxia.
Friedreich ataxia Ataxia telangiectasia Cerebellar tumour Cerebellar agenesis/dysgenesis Post-infectious cerebellitis Toxins (e.g. ethanol)
What is Friedreich ataxia and how does it present?
Autosomal recessive triplet repeat in FXN gene
Worsening ataxia and dysarthria
Distal wasting of lower limbs
Absent reflexes
Pes cavus (associated with Charcot-Marie-Tooth)
Impairment of proprioception
What are the main clinical features of ataxia telangiectasia?
Telangiectasia in the conjunctiva Mild delay in motor development Oculomotor problems Coordination problems Complex eye movement disorders
What are the main features of NF1?
6 or more cafe au lait spots Neurofibromas Axillary freckling Optic glioma Lisch nodules 1st degree relative with NF1
What are the main features of NF2?
Multiple schwannomas
Meningiomas
Ependyomas
Bilateral acoustic neuroma
List the main clinical features of tuberous sclerosis.
Cutaneous: ash leaf depigmentation, shagreen patches (roughened), angiofibromata (across the bridge of the nose)
Neurological: developmental delay, epilepsy, intellectual disability
What are the main features of Sturge-Weber syndrome?
Port wine stain in the distribution of the ophthalmic division of the trigeminal nerve
Similar lesion intracranially
May have epilepsy, intellectual disability and contralateral hemiplegia
List some neurodegenerative conditions that occur in children.
Lysosomal storage disorders Peroxisome enzyme defects Wilson disease Tay Sachs Gaucher Niemann Pick
What is adrenoleukodystrophy?
Group of disorders caused by peroxisomal defects
Peroxisomes are important for breaking down fatty acids
Neonatal and X-linked forms
What are some clinical features of growing pains?
Age 3-12
Symmetrical pain not limited to joints
Pain never present at the start of the day
Physical activities not limited (no limp)
Normal physical examination
how does subluxation of the patella present?
Sudden lateral dislocation of the patella
Very painful
Feeling of instability/giving way
Requires reduction and immobilisation
How many joints must be affected to be classified as polyarticular juvenile idiopathic arthritis?
More than 4
Describe the difference in the iron content of breast milk and cows milk.
Breast milk - low iron content, high absorption
Cows milk - high iron content, low absorption
List some clinical features of Edwards syndrome.
Low-set ears Small chin Microcephaly Overlapping fingers Rocker-bottom feet Cardiac defects (VSDs) Renal anomalies Learning disability 90% death within 1 year
List some clinical features of Patau syndrome.
Structural brain defects Small eyes Polydactyly Cardiac/renal malformations Death within 1 year
List some clinical features of Klinefelter’s syndrome.
Most common cause of male hypogonadism Small firm testes Tall Behavioural problems Delayed speech Gynaecomastia
List some clinical features of fragile X syndrome.
Moderate learning difficulties (most common genetic cause of learning difficulties) Macrocephaly Large testes Large ears Long face Prominent mandible and forehead
How is fragile X syndrome inherited?
X-linked dominant
Female carriers may have mild learning difficulties
What is Still’s disease?
Systemic form of JIA thought to be of autoimmune origin
Intermittent pyrexia
Salmon-pink rash
Aches and pains of joints and muscles
List some clinical features that are common to all congenital TORCH infection.
Low birth weight Prematurity Jaundice Microcephaly Seizures Anaemia Failure to thrive Encephalitis
Which medication is used to chelate lead in lead poisoning?
EDTA (ethylene diamine tetraacetic acid)
NOTE: it present with encephalopathic features (e.g. behavioural problems, pica) and causes a hypochromic microcytic anaemia with basophilic stippling
Which other condition can present very similarly to acute epiglottitis?
Retropharyngeal abscess (causes fever, drooling, dysphagia and stridor) Typically has a longer history than acute epiglottitis (over a few days)
Which murmur is typically heard in tetralogy of Fallot?
Ejection systolic murmur heard best in the 3rd intercostal space with a single heart sound
Which tumour markers can be used for neuroblastoma?
Urinary catecholamines
What is a craniopharyngioma?
Rare type of brain tumour derived from pituitary gland embryonic tissue
Which tissue does neuroblastoma arise from?
Neural crest tissue in the adrenal medulla and sympathetic nervous system
NOTE: MIBG scans are used to identify neurblastoma tissue
Which tissue does nephroblastoma arise from?
Embryonal renal tissue
What is the most common type of malignant bone tumour in children?
Osteosarcoma
NOTE: Ewing is common in younger children
Describe the inheritance pattern of retinoblastoma.
Autosomal dominant
Located on chromosome 13
What is a common benign cause of proteinuria in children?
Orthostatic (postural) proteinuria
Proteinuria is only found when the child is upright during the day
List some features of Fanconi syndrome.
Polydipsia and polyuria Salt depletion and dehydration Hyperchloraemic metabolic acidosis Rickets Faltering growth
List some causes of heart failure in neonates.
Hypoplastic left heart syndrome
Critical aortic valve stenosis
Severe coarctation of the aorta
Interruption of the aortic arch
Which congenital heart defect is most commonly seen in DiGeorge syndrome?
Interrupted aortic arch
Others include persistent truncus arteriosus, TOF and VSD
What are some features suggestive of atypical UTI?
Seriously ill Poor urine flow Abdominal mass Raised creatinine Septicaemia Failure to respond to antibiotic treatment Infection with non-E. coli organisms
