22- Neurology 2 Flashcards by Manav Jaspal

What is Chiari malformation?

Low lying cerebellar tonsils in foramen magnum

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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

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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

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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.

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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

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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

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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

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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

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How can you prognosis of Duchenne’s be prolonged?

Prednisolone (delays progression by 2 years)
Creatine supplementation
Gene therapy being developed

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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

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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

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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.

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How can you tell the difference between SMA and CP?

SMA has regression of milestones

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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

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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

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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

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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

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What is microcephaly and some causes of this?

Occipital-frontal circumference < 2nd centile

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What is craniosynostosis and how does this present?

Skull sutures close prematurely

Small head circumference in relation to body
Closure of anterior fontanelle

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What is the issue with craniosynostosis?

Will lead to raised ICP causing:

Developmental delay
Cognitive impairment
Vomiting
Irritability
Visual impairment
Neurological symptoms and seizures

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How is craniosynostosis diagnosed?

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First line: Skull Xray
CT head if doubt

How is craniosynostosis managed?

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Monitoring
Surgical reconstruction

What is plagiocephaly and brachycephaly?

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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?

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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 neurofibromatosis?

* Autosomal dominant condition that causes neuromas to form * NF1 more common

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 * **R**elative with NF1 * **A**xillary or inguinal freckles * **B**ony dysplasia such as **B**owing of a long bone or sphenoid wing dysplasia * ***Iris hamartomas*** (Lisch nodules) (2 or more) * **N**eurofibromas (2 or more) * **G**lioma of the optic nerve

How is neurofibromatosis diagnosed?

* Clinical diagnosis, no investigations needed * ***Genetic testing*** if doubt * ***Xray, CT and MRI*** to look at tumours in bones or CNS

What is the management of NF1 and what are the complications with this disorder?

* Monitor lesions * Manage complications *

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

How is PANDAS managed?

* Often resolves spontaneously over time * Sodium valproate to control 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

What conditions is Tourette's associated with?

* OCD * ADHD

What are some examples of complex tics?

* ***Performing physical movements,*** such as twirling on the spot or touching objects * ***Copropraxia*** involves making obscene gestures * ***Coprolalia*** involves saying obscene words * ***Echolalia*** involves repeating other people’s words

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

What is the definition of cerebral palsy?

Umbrella term for a **permanent** disorder of **motor movement, posture and/or tone** due to a **non-progressive** abnormality of the developing brain. **Problem is static**

What investigation should you do if you suspect a child has cerebral palsy and what is found in premature children with CP on this investigation?

**MRI Brain and Spine** May see periventricular leucomalacia in preterms

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?

What do you need to rule out with bilateral papilloedema and headache before coming to a diagnosis of IIH?

* Brain tumour * Hydrocephalus * Sinus vein thrombosis Do MRI and MRV

How does a low pressure headache present and how is it treated?

* Worse on standing * Pulsatile * Lay flat * Fluids * Blood patch

Will there be coning if you do an LP in IIH?

No as there is no pressure gradient between brain and spinal cord like hydrocephalus

What is a nasty side effect of acetazolamide?

* Digital tingling * Metalic taste * GI upset

check febrile seizures

22- Neurology 2 Flashcards

(50 cards)