Neuro - Paeds Flashcards
Name some types of muscular dystrophies
- Duchennes
- Beckers
- Myotonic dystrophy
- Fascioscapulohumeral muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Limb-girdle muscular dystrophy
- Emery-Dreifuss muscular dystrophy
What is gower’s sign?
-Children with a proximal muscle weakness use a specific technique to stand up from a lying position - use the downward dog yoga pose b/c the muscles around the pelvis are not strong enough to get their upper body erect without the help of their arms
What is Duchennes Muscular Dystrophy? How do boys present with this?
- X linked recessive mutation caused by a defective gene for dystrophin on X chromosome
- Dystrophin is a protein that holds muscles together at the cellular level.
- Boys present at 3-5 years with weakness in muscles around pelvis. Weakness is progressive an eventually all muscles affected
- Wheelchair bound by teenage years
How is Duchennes managed?
- Life expectancy: 25-35 years with good management of cardiac and resp complications
- OT, PT, medical appliances
- Management of scoliosis and HF
- PO steroids: slow progression of muscle weakness by up to 2 years
- Creatine supplementation gives slight improvement in muscle strength
What is Beckers muscular dystrophy?
- Similar to Duchennes but dystrophin is less severely affected and maintains some of its function
- Sx start at 8-12 years - clinical course less predictable than Duchennes, some require wheelchairs in late 20s, 30s and others can walk into late adulthood
What is myotonic dystrophy?
- Usually presents in adulthood
- Progressive muscle weakness and prolonged muscle contractions (can’t let go of doorknobs, hands)
- Cataracts
- Arrhythmias
What investigations should you perform in a child with suspected dystrophy?
- Serum CK (raised in Duchennes, Becker and in inflammatory myopathies)
- Muscle biopsy: usually provides definitive sx
- DNA testing/karyotype
- US/MRI of muscles: monitoring of progress
Describe some causes of cerebral palsy
- Antenatal: maternal infections, vascular occlusion, trauma in pregnancy, cortical migration disorders and structural maldevelopment of brain
- Perinatal: hypoxic ischaemic encephalopathy, pre-term
- Post-natal: meningitis/encephalitis, severe neonatal jaundice, head injury
Describe the types of cerebral palsy and regions affected
- Spastic hypertonic (90% AKA pyramidal): increased tone, brisk tendon reflexes, extensor plantar responses —> results from damage to UMN
- Dyskinetic (6% AKA athetoid): problems controlling muscle tone (hypertonic and hypotonic) causing athetoid movements and oro-motor problems - result of damage to basal ganglia (associated with hypoxic ischaemic encephalopathy) intellect relatively normal
- Ataxic (2%): problems with coordinated movement resulting from damage to the cerebellum (signs occur on same side as lesion but lesions tend to be bilat so get relatively symmetrical signs)
- Mixed (2%): mix of spastic, dyskinetic and or ataxic features
Define the terms: monoplegia, hemiplegia, diplegia, quadriplegia
- Mono: one limb affected
- Hemi: one side of body affected
- Di: four limbs affected but mostly legs
- Quadri: four limbs are affected more severely, often with seizures, speech disturbance and other impairments
Name some signs and sx of cerebral palsy
- Failure to meet milestones
- Increased tone (abnormal limb/trunk posture)
- Hand preference below 18 months**
- Problems with coordination, speech, walking
- Feeding/swallow problems
- learning difficulties
- UMN lesion signs: increased tone, brisk reflexes, slightly reduced power
- Hemiplegic/diplegic fait: extended leg with plantar flexion, swinging of legs during gait
How do you manage cerebral palsy?
MDT approach
- PT: stretch/strengthen muscles
- OT: ADL help
- SLT: NG/PEG, speech help
- Dieticians
- TO surgeons: contracture release (tenotomy)
- Paeds: medicine optimisation eg muscle relaxants (baclofen), anti-epileptics, excessive drooling (glycopyrronium)
- Social workers
What is a febrile convulsion? Name the criteria for febrile convulsions
- Child ages 6/12-5 ya
- <15 mins duration
- On episode/24h
- Absence of CNS infection or severe metabolic disturbance
- Generalised seizure
- No previous history of afebrile seizures
Other: occur in 3% of children, increases susceptibility of epilepsy by 1-2%
How would you manage a child with febrile convulsions?
- Screen for infection (eg meningitis): blood + urine + LP cultures
- Antipyretics do not prevent febrile seizures
- Prophylactic anti-epileptics or EEG are NOT required
How would you investigate a child with suspected epilepsy?
- Hx: is it vasovagal, feb con, type of seizure
- EEG: after 2nd simple tonic Clonic seizure
- Criteria for MRI brain: 1st seizure in child < 2 ya, focal seizures, no response to 1st line AEPs
- Other: ECG, BM, bloods (Na, K+, Mg and Ca2+), cultures (urine, blood, LP)
- Skin: look for signs of neurocutaneous syndromes (tuberous-sclerosis, neurofibromatosis)
