22- Neurology 2 Flashcards
What is Chiari malformation?
Low lying cerebellar tonsils in foramen magnum
What is muscular dystrophy and what are some examples of them?
Gradual weakening and wasting of muscles
- Duchennes
- Beckers
- Myotonic dystrophy
- Facioscapulohumeral
- Oculopharyngeal
- Limb-girdle
- Emery-Dreifuss
What is the management for muscular dystrophy?
No cure, make sure highest quality of life with MDT approach
- OT
- Physio
- Wheelchair and braces
- Surgical and medical management of complications e.g spinal scoliosis, heart failure
What is Gower’s sign?
- Shows there is proximal muscle weakness
- To stand up, they get onto their hands and knees, then push their hips up and backwards like the “downward dog” yoga pose. They then shift their weight backwards and transfer their hands to their knees. Whilst keeping their legs mostly straight they walk their hands up their legs to get their upper body erect. This is because the muscles around the pelvis are not strong enough to get their upper body erect without the help of their arms.
What is the pathophysiology of Duchenne’s and Becker’s muscular dystrophy?
- X-linked recessive
- Mutation in the gene encoding dystrophin (part of the muscle cytoskeleton)
- Duchenne: protein is not expressed at all so more severe
- Becker: protein expressed but at low levels
How does Duchenne’s present?
Presentation
- Usually boys presenting at 3-5 years
- Progressive proximal muscle weakness
- Gower’s sign
- Bulky muscles as muscle replaced by fat
- Calf pseudohypetrophy
- Protruding belly
What is the prognosis with Duchenne’s?
- Wheelchair bound by teenager
- Progressive involvement of all muscles
- Life expectancy of 25-35 with death due to respiratory complications or dilated cardiomyopathy
What investigations are done to diagnose Duchenne’s or Becker’s?
- CK: raised. Do for all boys not walking by 18 months
- Genetic testing: replaced muscle biopsy
- Muscle biopsy
How can you prognosis of Duchenne’s be prolonged?
- Prednisolone (delays progression by 2 years)
- Creatine supplementation
- Gene therapy being developed
What is the presentation of Becker’s?
- Symptoms appear later around age 8
- Similar symptoms to Duchenne’s but slower progression
- Wheel chair bound late teens-20s
- No intellectual impairment
- Survive until 30-40s
What is myotonic dystrophy?
Autosomal dominant
Patients present in their 20s:
- Progressive muscle weakness
- Cataracts
- Prolonged muscle contractions (prolonged hand shake or can’t let go of door knob)
- Cardiac arrhythmias
What is spinal muscular atrophy?
- Autosomal recessive
- Progressive loss of motor neurones, leading to progressive muscular weakness
- Affects the lower motor neurones in the spinal cord so LMN signs like fasciculations, reduced muscle bulk, reduced tone, reduced power and reduced or absent reflexes.
How can you tell the difference between SMA and CP?
SMA has regression of milestones
What are the four types of SMA?
Most to least severe
SMA type 1: onset in first few months of, progressing to death within 2 years
SMA type 2: onset in first 18 months. Most never walk, but survive into adulthood. Most common
SMA type 3: onset after first year. Most walk without support, but subsequently loose that ability. Respiratory muscles less affected and life expectancy close to normal.
SMA type 4: onset in 20s. Most will retain the ability to walk short distances but require a wheelchair for mobility. Everyday tasks can lead to significant fatigue
How is spinal muscular atrophy managed?
- No cure, MDT approach
- Physiotherapy: maximise muscle strength and retain respiratory function. Splints, braces and wheelchairs used to maximise function
- Respiratory support with non-invasive ventilation
- Percutaneous endoscopic gastrostomy (PEG): if weak swallow that is unsafe
What are some causes of floppy infant?
Will present in frog leg position
- Down syndrome
- HIE
- SMA
- Prader Willi
- Cerebral palsy
- Inborn errors of metabolism
- Sepsis
What is autonomic dysreflexia?
- Occurs in patients with spinal cord injury at, or above T6
- Afferent signals, most commonly triggered by faecal impaction or urinary retention cause a sympathetic spinal reflex via thoracolumbar outflow. The usual, centrally mediated, parasympathetic response however is prevented by the cord lesion
- Unbalanced physiological response, characterised by extreme hypertension, flushing and sweating above the level of the cord lesion, agitation, and in untreated cases severe consequences of extreme hypertension and bradycardia have been reported, e.g. haemorrhagic stroke
What is microcephaly and some causes of this?
Occipital-frontal circumference < 2nd centile
What is craniosynostosis and how does this present?
Skull sutures close prematurely
- Small head circumference in relation to body
- Closure of anterior fontanelle
What is the issue with craniosynostosis?
Will lead to raised ICP causing:
- Developmental delay
- Cognitive impairment
- Vomiting
- Irritability
- Visual impairment
- Neurological symptoms and seizures
What is plagiocephaly and brachycephaly?
Abnormal head shapes
Plagiocephaly: flattening of one area of the baby’s head
Brachycephaly: flattening at the back of the head, resulting in a short head from back to front
Occurs where a baby had a tendency to rest their head on a particular point, resulting in the skull bones and sutures moulding with gravity to create an abnormal head shape
Babies develop plagiocephaly and brachycephaly at around 3-6 months of age. How is this managed?
- Exclude craniosynotosis: properly palpating sutures, refer for imaging if doubt
- Look for congenital muscular torticollis (CMT): shortening of SCM on one side, get physiotherapy
- Reassurance and simple measures: majority of cases will return to normal as child grows
- Plagiocephaly helmets
What are simple measures done to reverse plagiocephaly?
- Positioning them on the rounded side for sleep
- Supervised tummy time
- Using rolled towels or other props
- Minimising time in pushchairs and car seats
What is tuberous sclerosis and how does it present?
Autosomal dominant neurocutaneous distoder
Growth of hamartomas
Common to have seizures/epilepsy and skin manifestations
What are some complications of tuberous sclerosus?
- Anxiety and depression
- Learning disability
- Autism spectrum disorder
- Renal failure
- Respiratory failure
- Sleep disturbance
- Sudden death
- Intracranial haemorrhage
How is tuberous sclerosus managed?
Supportive
- Angiofibromas <2mm laser therapy
- Angiofibromas >2mm dermabrasion or surgical resection
- Renal disease will require anti-hypertensive therapy
- Tubers should be regularly imaged and may require surgical resection
Manage Epilepsy
- Usually infantile spasms or focal
How do neurofibromatosis and tuberous sclerosus overlap?
What is the criteria for NF1 diagnosis?
Need 2 of 7 of the following ‘CRABBING’
- Café-au-lait spots (6 or more) measuring ≥ 5mm in children or ≥ 15mm in adults
- Relative with NF1
- Axillary or inguinal freckles
- Bony dysplasia such as Bowing of a long bone or sphenoid wing dysplasia
- Iris hamartomas (Lisch nodules) (2 or more)
- Neurofibromas (2 or more)
- Glioma of the optic nerve
What is the management of NF1 and what are the complications with this disorder?
- Monitor lesions
- Manage complications
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What is NF2 and how does it present?
- Autosomal dominant
- Gene found on chromosome 22, codes for a protein called merlin, which is a tumour suppressor protein particularly important in Schwann cells so schwannomas form
- Bilateral acoustic neuromas that need resection but risk of nerve paralysis
What is the most common cause of chorea in children?
St Vitus Dance
Due to acute rheumatic fever/strep infection
What is PANDAS and the presentation of this?
Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus
Presents with OCD and Tourette’s/Tics that is like Syndeham Chorea
What is Tourette’s?
- Development of involuntary tics that are persistent for over a year
- Tics become more prominent when the person is under pressure or excited
- Overwhelming urge to perform the tic. This urge increases the more they suppress it. They feel they need to complete the tic, often several times, to get relief from that urge
How is Tourette’s managed?
- If mild then reassure and monitor, most will improve over time
- Reduce stress, anxiety and triggers
- If severe can send for habit reversal training, Exposure response prevention, antipsychotics
- Treat any comorbid ADHD or OCD
If a child with CP was experiencing the following (see image), why would you not use baclofen and what would you use instead?
It is a centrally acting agent so will reduce tone in all four limbs and may as a consequence cause different problems i.e. some children use the increased tone in the legs to facilitate walking so lack of tone may struggle with mobility
Give local botox injections and refer to orthopaedics for serial casting
What are some comorbid conditions with CP?
