Paediatric Neurology Flashcards
What is the underlying cause of cerebral palsy?
An insult to the developing brain before 3 years of age
Most insults leading to cerebral palsy are thought to occur at what time period?
Antenatally
What is the most common presentation of cerebral palsy, generally?
Delayed motor development
What is the most common subtype of cerebral palsy, making up 75-80% of cases? What characterises this type?
Spastic- a persistent increase in muscle tone
Which subtype of cerebral palsy affects the basal ganglia, and is characterised by involuntary movements and variable tone?
Dyskinetic
Which subtype of cerebral palsy affects the cerebellum, and is characterised by unsteadiness and poor spatial awareness?
Ataxic
What term is used to describe spastic cerebral palsy affecting a) both legs, b) a unilateral arm and leg, and c) all four limbs?
a) diplegic, b) hemiplegic, and c) quadriplegic
How should a child with cerebral palsy be fed if they are deemed to be at high risk of aspiration?
NG tube or gastrostomy
What medications can be used to help reduce spasticity associated with cerebral palsy?
Botox injections or oral baclofen
What are some musculoskeletal complications that may occur as a result of cerebral palsy, especially in those bound to a wheelchair?
Scoliosis and hip dislocation
What is the most likely cause of death in a child with cerebral palsy?
Aspiration pneumonia
Which anatomical structures are affected in muscular dystrophy?
Lower motor neurones and muscles
How do children with neuromuscular diseases usually present?
Floppy weakness and delayed motor milestones
How are muscular dystrophies inherited?
X linked recessive
The defect that occurs in muscular dystrophy impairs the formation of what protein?
Dystrophin
Gower’s sign is seen in what neurological condition affecting children?
Duchenne’s muscular dystrophy
What is the typical age of onset of a) Duchenne’s and b) Becker’s muscular dystrophy?
a) 2-3 years, b) teenage years
What is the most important blood test to perform on children with suspected muscular dystrophy?
Creatinine kinase
What investigation is used to make a definitive diagnosis of muscular dystrophy?
Genetic testing
Most patients with Duchenne’s muscular dystrophy die in their mid twenties from what complication?
Respiratory failure
Most patients with Becker’s muscular dystrophy die in their forties from what complication?
Cardiac failure (often cardiomyopathy)
What orthopaedic complication is likely to be seen in children with muscular dystrophy, particularly Duchenne’s?
Scoliosis
Congenital anomalies of the CNS are the result of insults to the developing foetus at any time up to when in development?
20 weeks
What are the two most common congenital anomalies of the CNS?
Neural tube defects and hydrocephalus
How are congenital anomalies of the CNS usually detected?
Antenatal ultrasound
The major cause of neural tube defects is maternal deficiency of what in the first month of pregnancy?
Folic acid
What is the term for the most common neural tube defect, involving a herniation of both the meninges and spinal cord tissue through a defect?
Myelomeningocele
What is the term for a neural tube defect involving a herniation of the meninges only through a defect?
Meningocele
What is the term for a neural tube defect involving herniation of brain tissue through a skull defect?
Encephalocele
What is the term for a neural tube defect where there is failure to develop part of the skull and brain, which is incompatible with life?
Anencephaly
What is the most common clinical sign of spina bifida occulta?
A tuft of hair over the affected vertebra
Most children with a neural tube defect have difficulty with what two things?
Bowel function and bladder control
Neural tube defects most commonly arise in what area of the spine?
Lumbo-sacral
Which type of neural tube defect will typically cause weakness or paralysis of the lower limbs and loss of sensation of the lower limbs and perineum?
Myelomeningocele
In children with a neural tube defect, what investigation is used to assess for any associated hydrocephalus?
Cranial ultrasound
How are neural tube defects treated in the first instance?
Surgical correction
What investigation is required for monitoring in children with a neural tube defect?
Ultrasound scan of the renal tract
Which anatomical structures are affected by polio?
Anterior horn (motor) cells of the spinal cord
A flu-like illness followed by variable degrees of paralysis is suggestive of what diagnosis?
Polio
Is congenital hydrocephalus usually communicating or non-communicating?
Non-communicating
What are some potential causes of congenital hydrocephalus?
Aqueductal stenosis or Chiari malformations
What is often the first sign of hydrocephalus in a baby?
Increased head circumference
What is a typical late presenting sign of hydrocephalus, caused by raised ICP?
Sunsetting gaze
What investigation is used to detect hydrocephalus in a) babies, b) older children?
a) Cranial US, b) CT/MRI
How is hydrocephalus managed?
VP shunting
What is a Chiari malformation?
A downward displacement of the cerebellar tonsils through the foramen magnum
An EEG showing a 3Hz/s spike and wave pattern is suggestive of what diagnosis?
Absence seizures
What 3 types of seizures typically occur in juvenile myoclonic epilepsy?
Myoclonic, tonic-clonic and absence
When do the myoclonic jerks associated with juvenile myoclonic epilepsy typically occur?
In the morning upon wakening
What is the best treatment option for juvenile myoclonic epilepsy?
Sodium valproate
What investigation should be performed in all children with a seizure?
ECG
If a child presents with a seizure which is ongoing, what blood tests should be taken to exclude other causes?
Glucose and U&Es
What imaging is necessary for a child with a seizure associated with a head injury?
CT head
What imaging is necessary for a child aged < 2 where epilepsy has developed, or whose seizures have a focal onset?
MRI head
What is the first line medication for generalised seizures?
Sodium valproate
What is the first line medication for generalised seizures in sexually active girls?
Lamotrigine
What is the first line medication for focal seizures?
Carbamazepine
What medication should be given after a child has been seizing for 5 minutes? In what ways can this medication be given?
Benzodiazepines, can be given as IV lorazepam, rectal diazepam or buccal midazolam
What medication should be given after a child has been seizing for 10 minutes?
A second dose of benzodiazepines
What medication should be given after a child has been seizing for more than 10 minutes and has not responded to two doses of benzodiazepine?
Phenytoin infusion
What age range of children can be affected by febrile seizures?
6 months to 7 years
Siblings of a child who has a febrile seizure are how likely to develop one themselves?
25%
What type of seizures usually are febrile seizures?
Generalised tonic clonic seizures
What type of seizure may occur in young children following a precipitating unpleasant event, usually triggered by breath holding?
Reflex anoxic seizures
What is the most common organism causing meningitis in neonates and infants aged 0-12 months?
Group B strep
What is the most common organism causing meningitis in older children and adolescents aged > 12 months?
Neisseria meningitidis (type B)
What is the most common group of organisms causing viral meningitis in all ages?
Enteroviruses
What is the most common organism causing encephalitis in all ages?
Herpes simplex type 1
What are the 3 features of meningism?
Headache, photophobia and neck stiffness
What are the 3 main contraindications to lumbar puncture?
Raised ICP, septic shock, coagulopathy
In encephalitis, CT may show signs of oedema and inflammation, especially in which lobes?
Temporal lobes
What antibiotic is started as soon as possible in children with suspected bacterial meningitis?
3rd generation cephalosporin i.e. ceftriaxone IV
A course of what medication has been shown to decrease the rate of sensorineural hearing loss in children with meningitis?
Dexamethasone
What is the most common long-term complication as a result of bacterial meningitis?
Sensorineural hearing loss
What is the most common cause of ataxia in children? When does this usually occur?
Acute cerebellar ataxia, usually occurs following a viral infection (often chickenpox)
Ataxia which is associated with otalgia, or symptoms of otitis media/URTI, with normal tone, power and reflexes is most likely to be caused by what?
Labyrinthitis
Friedreich’s ataxia is an autosomal recessive condition occurring in children of what age group? Aside from ataxia, what is a common sign that may be seen in these children?
8-15 years, pes cavus
Full recovery from ataxia caused by acute cerebellar ataxia or labyrinthitis is expected within how long?
Days-weeks
How is spinal muscular atrophy most commonly inherited?
Autosomal recessive
What diagnosis should be suspected in a baby who has marked hypotonia and muscle weakness from birth, or presenting up to 6 months, and a poor suck and swallow reflex?
Spinal muscular atrophy
Tongue fasciculations, giving the tongue a ‘bag of worms’ appearance, can be seen in which condition?
Spinal muscular atrophy
What happens to CK in spinal muscular atrophy?
It is normal, or mildly raised
What is usually the cause of death in babies with spinal muscular atrophy?
Respiratory failure
How are both neurofibromatosis and tuberous sclerosis most commonly inherited?
Autosomal dominant
Cafe au lait spots are seen in which neurocutaneous syndrome?
Neurofibromatosis type 1
Axillary or inguinal freckling is seen in which neurocutaneous syndrome?
Neurofibromatosis type 1
Iris hamartomas (Lisch nodules) are seen in which neurocutaneous syndrome?
Neurofibromatosis type 1
Neurocutaneous syndromes, particularly tuberous sclerosis, come with an increased risk of developing what associated conditions?
Learning difficulties and epilepsy
Ash leaf macules are seen in which neurocutaneous syndrome?
Tuberous sclerosis
Adenoma sebaceum (acne in a prepubertal child) is seen in which neurocutaneous syndrome?
Tuberous sclerosis
60% of childhood CNS tumours arise where in the brain?
Cerebellum
What is the most common glioma to be seen in children?
Astrocytomas
Most embryonal tumours of the CNS seen in children are what? Where are these located?
Medulloblastomas, located in the cerebellum
What CNS tumour may cause children to present with visual and endocrine problems?
Craniopharyngiomas
How are brain tumours in children usually treated?
Surgical removal
What treatment should be avoided in children aged under 3 years with brain tumours?
Radiotherapy (this can damage the developing brain)
