Paeds 7 Flashcards
Define infantile colic.
> 3 hours total crying, for > 3 days in any week or > 3 weeks
What are some key factors that distinguish Noonan syndrome from Turner syndrome?
Noonan can affect males
Noonan is associated with mental retardation and pulmonary valve stenosis
Describe the prognosis for patients with minimal change disease.
1/3 have only a single episode
1/3 have occasional relapses
1/3 have frequent relapses stopping at adulthood
Define global developmental delay.
Significant delay in 2 or more developmental domains
Which investigations should be requested in suspected global developmental delay?
Chromosomal analysis (Down, Di George, Williams) Fragile X testing Creatine kinase U&E Lead level Urate Full blood count Ferritin TFTs Biotinidase level
Which investigation is important to perform in any child who has had a non-febrile seizure?
ECG
List some causes of surfactant deficiency in newborns.
Prematurity male Sepsis Maternal diabetes Second twin Elective C-section
List some causes of speech delay.
Hearing impairment Expressive language disorder Late bloomer Cerebral palsy Autism spectrum disorder
List some potential first-line investigations for suspected inherited disorders of metabolism.
Amino acids and acylcarcinitine profile Ammonia Lactate Organic acids Very long chain fatty acids
Which diseases are tested for in the Guthrie test?
Sickle cell anaemia Cystic fibrosis Congenital hypothyroidism MCAD deficiency PKU Maple syrup urine disease Isovaleric acidaemia Homocystinuria Glutaric aciduria type I
Which acid-base features would raise suspicion of an inborn error of metabolism?
Acidosis out of keeping with clinical picture
Abnormalities persist despite standard treatment
Raised anion gap
Outline the pathophysiology of lysosomal storage disorders and describe the clinical manifestations.
The lysosome is the recycling centre of the cell
Deficiency of enzymes within the lysosome leads to the accumulation of toxic proteins resulting in hepatosplenomegaly and CNS involvement
This can manifest with developmental regress and seizures
Examples: mucopolysaccharidoses, oligosaccharidoses, mucolipidoses, sphingolypidoses (Fabry disease)
What are mucopolysaccharidoses?
Most common of the lysosomal storage disorders
Characterised by defective breakdown of glycosaminoglycans
Causes developmental regression, skeletal abnormalities, coarse facies, cardiomyopathy
Briefly outline the pathophysiology of lipid storage disorders.
Enzyme deficiency leads to lipid accumulation in cells and tissues
Excessive fat storage leads to permanent cellular and tissue damage
NOTE: Gaucher disease is the most common
What blood glucose level defines hypoglycaemia?
< 2.6 mmol/L
What is the inheritance pattern of congenital adrenal hyperplasia?
Autosomal recessive
NOTE: 21a-hydroxylase deficiency is most common
Describe the presenting features of an adrenal salt losing crisis.
Vomiting
Weight loss
Hypotonia
Circulatory collapse
List some causes of global developmental disorders.
Chromosomal (e.g. Down, fragile X) Congenital hypothyroidism Inborn errors of metabolism (e.g. PKU) Congenital infection (e.g. rubella, CMV) Hypoxic brain injury Kernicterus Meningitis
List some causes of abnormal motor development.
Central motor deficit (e.g. cerebral palsy) Congenital myopathy (e.g. DMD) Neural tube defect Global developmental delay
Which children are most vulneralbe to periventricular leukomalacia?
Preterm babies
NOTE: periventricular leukomalacia is particularly associated with diplegic cerebral palsy
Describe the main features of dyskinetic cerebral palsy.
Characterised by the presence of involuntary, uncontrolled movements that are more obvious on active movement or stress
May feature chorea, athetosis or dystonia
Usually due to damage to the basal ganglia
Describe the main features of ataxic (hypotonic) cerebral palsy.
Most are genetically determined
Characterised by trunk and limb hypotonia, poor balance and delayed motor development
Later features include intention tremor and ataxic gait
List some tests that may be used to assess language development.
Symbolic toy test (e.g. Kendall or McCormick)
Reynell test
What are the three main features of autism spectrum disorders?
Impaired social interaction
Speech and language disorder
Imposition of routines and ritualistic and repetitive behaviours
Name some formalised tests that may be used to diagnose autism.
Autism diagnostic interview (ADI)
Autism diagnostic observation schedule (ADOS)
At what point in a child’s life would a squint be considered pathological?
3 months
Usually due to a refractive error
What are the limit ages for: Head control Sits unsupported Stands independently Walks independently
Head control - 4 months
Sits unsupported - 9 months
Stands independently - 12 months
Walks independently - 18 months
What are the limit ages for:
Fixes and follows
Pincer grip
Fixes and follows - 3 months
Pincer grip - 12 months
What are the limit ages for:
Saying 6 words with meaning
Joining words
3-word sentences
Saying 6 words with meaning - 18 months
Joining words - 2 years
3-word sentences - 2.5 years
Name the primitive reflexes.
Moro Grasp Rooting Stepping Asymmetrical tonic neck reflex
NOTE: these will be replaced by postural reflexes (e.g. parachute)
Which intelligence tests may be used in children?
WPPSI (2-7 years)
WISC (6-16 years)
How is meconium ileus treated?
Gastrograffin enema (or N-acetylcysteine)
How should a congenital diaphragmatic hernia be managed?
Insert a large NG tube and apply suction to prevent distension of the intrathoracic bowel
How should neonatal hypoglycaemia be managed?
Early and frequent milk feeding
IV dextrose in refractory cases (and consider glucagon and hydrocortisone)
Aim for blood glucose > 2 mmol/L
How is a Meckel’s diverticulum diagnosed?
Technetium 99 pertechnetate scan
Which causes of gastroenteritis should be reported to the health protection unit?
- Campylobacter
- Listeria
- Shigella
- Salmonella
Which blood tests may be considered at a coeliac disease review
Coeliac serology FBC TFT LFT Vitamin D, B12, folate and serum calcium U&E
Describe the clinical features of congenital varicella syndrome.
Dermatomal skin scarring Neurological defects IUGR Limb hypoplasia Hydrops fetalis
Describe the clinical features of congenital CMV infection.
Mental handicap
Visual impairment
Progressive hearing loss
Psychomotor retardation
At birth: hydrops, IUGR, exomphalos, microcephaly, hydrocephalus, hepatosplenomegaly, thrombocytopaenia
Which organism most commonly causes septic arthritis in children?
Staphylococcus aureus
NOTE: in sickle cell patients, salmonella is also common but S. aureus is still the most common
What is the most common site of septic arthritis in children?
Hip
NOTE: plain film changes are apparent after 2-3 weeks
At what age can babies roll over?
4 months
What does the child protection team do once they have been informed about a case of suspected NAI?
Convene a case conference (includes parents, police officer, paediatrician, GP, health visitor and social worker)
Place the child’s name on the child protection register
Give support to the parents
Ensure regular monitoring by health visitor/social worker
Arrange regular follow-up with paediatrician (especially growth and development)
What is the most common site of osteomyelitis in children?
Lower femur or upper tibia (around the knee)
Tends to affect the metaphysis
When should an MCUG and DMSA be performed in a child who has had an atypical UTI?
MCUG can be done as soon as the current infection is under control
DMSA should be performed 3-4 months after the infection
Outline the definitive management of VUR.
Often improves with time
May require surgical corrections
Patients may receive prophylactic antibiotics
Which investigations are used to identify DDH?
< 5-6 months = ultrasound
> 6 months = X-ray
What is the typical blood gas picture that is seen in congenital cyanotic heart disease?
Metabolic acidosis
Hypoxia
Describe the appearance of a rash caused by parvovirus in adults.
Lacey rash
What is Gaucher disease?
Glycogen storage disease that is prevalent in Ashkanazi jews
NOTE: Tay Sachs is also common in this population
