Neurology Flashcards

Question

SE valproate

Answer 1

Weight gain hair loss pancreatitis hepatic failure embryopathy/teratogenic

Answer 2

incr secretions

Answer 3

Reaction to volatile anaethetics in susceptible individuals Udnerlying mutation in RYR1 gene (ryanodine receptor (type 1), located on the sarcoplasmic reticulum (SR), the organelle within skeletal muscle cells that stores calcium) resulting in incr intracellular Ca levels Presentation due to hypercatabolic state * fever * tachycardia * tachypnoea * mixed acidosis * ridipid muscles * rhabdomyolysis - elvated CK Mx - dantrolene - muscle relaxant that works on the same channel

Answer 4

Cause: infection by Clostridium botulinum, which is an anaerobic spore-forming, gram-positive bacillus. * It can be found in the soil, water, and air pollution (often linked to consumption of raw honey) * C. botulinum spore produces a neurotoxin that causes descending paralysis Presentation * peak age is 3-4 months * floppy, poor feeding, lethargy, a weak cry, and constipation. * ptosis in the face and eyes, dilated pupils * excessive drooling due to weak suck reflex * shallow breathing due to respiratory suppression * descending B/L muscle weakness tx - intubation and ventilation if necessary - BIG-IV - antitoxin if available

Answer 5

weight gain retinopathy psychosis

Answer 6

nephrolithiasis weight loss acidosis glaucoma

Answer 7

hyponatraemia

Answer 8

Failure of neural tube to close on days _21-26 of intrauterine life_ (early T1) Assoc - folate deficiency, sodium valproate, previous NTD Ex: * Spina bifida (failure of vertebral arch fusion * Meningocoele (protrusion of meninges only through vertebral defect) * Menigomyelocoele (protrusion of meninges and spinal cord/nerves) * Encephalocoele (midline defect of skull w brain protrusion) * Anencephaly (large defect in meninges and skull w rudimentary brain; incompatible w life)

Answer 9

Cause/inheritance * AR condition * mutation (triplet repeat) in _FXN gene_ (makes a protein called _frataxin_) * porgressive degeneration of cerebellar tracts and dorsal column (sensory tract, proprioception etc) in spinal cord Sx onset 5-15yo (always \<20) * *Motor:* Progressive _ataxia_ * __Broad based gait * *Sensation:* Loss of sensation in arms and legs * Absent ankle jerk (LMN sign) * UPGOING plantars (UMN sign) * *Speech:* Progressive _dysarthria_ * *Eyes:* optic atroiphy, nystagmus * *MSK:* pes cavus, scoliosis * *Cardic :* hypertrophic cardiomyopathy * -\> heart failiure and arrhythmias * *Endo:* DM Diagnosis * Genetics: AR; FXA triplet repeat (expansion indirectly correlates w age of disease onset; directly correlates w severity of cardiac disease/mortality and diabetes) * Clinical correlation Prognosis * Progressive disability * Death ~ 40s from hypertrophic cardiomyopathy (CCF or arrhythmia)

Answer 10

* Onset \<1yo * Peak 3-7mo * Presentation * Arrested development/developmental regression * Spasms of neck, trunk and extremities - symmetric, synchronous, occurring in clusters * EEG: hypsarrhythmia (chaotic and disorganized brain electrical activity with no recognizable pattern) * Causes * Idiopathic (20%) * Structural * Cortical dysplaia * Cerebral dysgenesis * Lissencephaly * Congenital infections (TORCH) * Tuberous sclerosis * Birth injury (HIE, IVH) * Postnatal brain trauma * Meningitis * Severe hypoglycaemia * Metabolic disease (PKU most common) Mx * Vigabatrin

Answer 11

Autosomal dominant (80% new mutations) - mutations in **TSC1 or TSC2**, both *tumour suppressor genes* TSC1 and TSC2 -\> hyperactivation of the mTOR pathway, resulting in a downstream kinase signaling cascade that can consequently lead to abnormalities in numerous cell processes, including cell cycle progression, transcription, translation, and metabolic contro - **Use mTOR inhibitors as treatment = Sirolimus, everolimus**

Answer 12

**_Lissencephaly_** Group of disordered characterised by the _absence of gyrae_ (folds) in the cerebral cortex and an abnormally small head _(microcephaly)_ **'Smooth brain'** **Type 1 (i.e. classic)** - associated with _facial dysmorphism_ and sometimes deletions of chromosome 17p (Miller-Dieker syndrome) * Hypotonic at birth -\> spastiticity * Developmental delay * Infantile spasms **Type 2 'cobblestoning'** = Walker-Warburg syndrome * Autosomal recessive * Most severe form of _congenital muscular dystrophy_ -\> death before age 3 * _Brain_ (hydrocephalus, hypotonia, weakness, occasional seizures) and _eye abnormalities_ (ocular dysplasia (cataracts etc)) * Caused by _hypoglycosylation of α-dystroglycan._ * _Serum CK elevated_ * Myopathic/dystrophic muscle pathology and altered α-dystroglycan

Answer 13

* Autoimmune, B and T cell mediated -\> local inflammation in CNS that results in demyelination, gliotic scarring, and axonal loss * Recurrent _CNS demyelinating lesions (white matter)_ at different places , separated in _time and space_ * Presence of oligoclonal bands can be subsituted for separating events in TIME so as to make diagnosis as early as possible and start disease modifying treatment * Classic remissions and relapses (acute onset) * typically slowly progressive * Age onset \>10years (usually 20-35 however; childhood onset rare 0.2-2%) * **RF:** low vit D levels, positive EBV serology, HLADRB1 gene positive * Usually presents with central isolated syndrome (CIS) ie **transverse myelitis or optic neuritis**, rather than ADEM. Second event occurs in the next 2 years. * **Clinical manifestations depend on location of lesions:** * Ataxia * Weakness (hemiparesis) * Headache * Sensory changes * bladder, bowel sx * Unilateral blurred or double vision * Optic neurotis (optic disk swelling) * Optic atrophy * *Ix** - MRI spine and brain - **plaques** - LP - **oligoclonal bands** (in 80%), incr **IgG** (60%), incr protein (60%) and cells * *Treatment** - Steroids help w acute attacks - IVIG - Disease modifying agents: IFNbeta 1a, capoxone, natalizumab - Supportive

Answer 14

most common cause inherited intellectual disability M \> F XL _dominant:_ decr level or absent MFRP due to mutation in FMR1 gene --\> genetics: triple repeat analysis (not detected on micro array or sequencing) Facial Features: _large head (macrocephaly) and ears_ _long face_ _prominent forehead_ and chin sunken eyes midface hypoplasia Other: Large testes after puberty Behavioural problems - autism, anxiety, OCD Eye problems _CV problems_ - MV prolapse, aortic root dilatation _Seizures 20%_ Prader Willi phenotype (obesity, hyperphagia)

Answer 15

both X-linked recessive with mutation in dystrophin gene (codes for dystrophin protein in muscle) * DMD: dystrophin ABSENT * Becker: dystrophin REDUCED -\> less severe form diagnosis w whole exon sequencing, muscle biops (fat infiltration, no dystrophin on staining) and will have elevated CK levels

Answer 16

Inheritance = AD (50% sporadic mutation) 2 of 7 1. - cafe au lait macules \>5mm 2. - leish nodules in eye 3. - axillary freckling 4. - neurofibromas 2 or more 5. - optic glioma (hamartoma in iris; normally normal vision) 6. - distinctive osseous lesions 7. - first degree relative w NF1

Answer 17

AD - more severe than NF1 (NF1 90% of cases, NF2 10% of cases) Diagnosis req 1 or more of the following: 1. **B/L** **VIII nerve (vestibulocochlear nerve) acoustic neuromas** 2. **Unilateral VIII nerve mass** as well as any 2 of: meningioma, neurofibroma, schwannoma, glioma, cataracts 3. **Unitlateral VIII nerve acoustic neuroma** or another brain or spinal tumour (2/3) AND first degree relative w NF2 Presentaton * cerebellar ataxia * hearing loss * facial nerve palsy * headache * cataracts in 60-80% Mx - Genetic counselling - Yearly assessment w neuro exam, auditory and visual screening and BP - 4 eyarly opthal assessment

Answer 18

Rare AR condition Lack of functional SMN protein (2x **deletion of SMN1 gene** ) -\> progressive **degeneration of anterior horn cell** Presentation * Onset _2-3months:_ Progressive motor weakness and loss of function * Infants are _floppy and weak_ * Diffuse symmetrical muscle weakness prox to distal * more severe in lower \> upper limbs * absent or markedly decr tendon reflexes * _tongue fasciculations_ * restrictive resp insufficiency, _restrictive lung disease -\> bell shaped chest_ * bulbar weakness -\> _swallowing difficulties_ -\> aspiration pneumonia * _follow you around with their eyes_ * reduced facial expressions * FTT (difficulty feeding) * Scoliosis Diagnosis - Genetic testing is key ?SMN1 gene and # copies of SMN2 (protective; the more copies you have, the milder the disease) - EMG: active denervation producing fibrillation potentials 4 types based on age of onset - type 0 prenatal onset and very severe, _death at birth_ if no resp support - type 1 (Werdig-hoffman disease) is most severe but also most common (onset \<6mo; _never able to sit; death \<2yrs_) - type 2 - sits independently but _never stands or walks_, usually survives until adulthood (_onset \>6mo_; death 10-40yo) - type 3- _asymptomatic until early teens or adulthood then starts to regress_, survival until adulthood (onset \>2yo) - type 4 is _adulthood onset_ (20s/30s) Prognosis poor- usually death in infancy from resp failure

Answer 19

AR * SMN 1 mutation * Mutation in **telomeric** copy of the survival motor neuron gene (SMN1 produces full length SMN protein) * Results in deficiency of SMN protein * SMN 2 mutation * **Centromeric copy** of the survival motor neuron gene (have to have this to survive until birth) * Differns from SMN1 in that it LACKS exon 7 -\> produces truncated version of SMN protein * Incr copies (up to 8) of SMN 2 gene = less severe disease

Answer 20

chest/spinal pt ot ng/peg feeding for nutrition resp - early tx resp inf - rsv prophylaxis (palivizumab0 - NIV, NOCTURNAL CPAP spinal surgery contracture mgmt DMAs - genetic tx **- incr smn2 gene levels/upregulation (Nusinersin/Spinraza; viral vector genomes**

Answer 21

Treatment of SMA, disease modifying agent/genetic therapy - increases SMN protein levels by inducing exon 7 insertion into SMN2 mRNA to produce full length RBA and thus SMN2 protein production 4 monthly LPs for injection Has prolonged life expectancy in type 1 SMA from 2 to 5years of life and improved motor milestone achievement Best results when treated pre-symptomatically

Answer 22

Treatment of SMA =gene therapy using viral vector Single one off Injection of SMN gene Main side effect is liver injury risk of fulminant liver failure

Answer 23

Treatment of SMA Oral medication Modifies the splicing of SMN2 messenger RNA to **include exon 7** resulting in an increase in the concentration of the functional SMN protein Will be listed on PBS this year

Answer 24

CMT Friedrichs ataxia/SCA Guillon barre Neurogeneneration Leukodystrophy

Answer 25

also known as **hereditary motor and sensory neuropathy** * Group of inherited sensorimotor neuropathies (demyelinating and/or axonal degeneration) - most common cause of inherited neuropathy * 1/2500 * *Classification** 1. Demyelinating - cmt1a most common form 2. Axonal - cmt2a **Genetic** * 90% are caused by mutations in **CMT1A** - loss of myelin on peripheral nerves; _reduction in conduction velocity_ (sensory before motor) * **CMT2a** - loss of peripheral neuron axons; _reduction in amplitude_ (sensory before motor), normal conduction velocity **Sx onset late childhood** * **Peripheral neuropathy affecting most distal nerves first** (glove and stocking distribution) * _Difficulty walking with frequent falls_ * Contractures and weakness of ankles -\> pain * Calf (inverted champagne bottle legs), foot muscle wasting * Reduced reflexes (ankles \>knees) * Difficulty heel walking * Skeletal - scoliosis, pes cavus (high arched foot) * Foot drop and toe walking * Ears: sensorineural hearing loss * Eyes: optic atrophy ix - genetics - _microarray from CMT1A_ - nerve conduction studies (delayed/slow _motor and sensory_) - EMG - nerve bx TX - supportive - orthopaedic and orthotic - PT - screening for DDH - hearing, vision screening - monitor for sleep disordered breathing in severe forms

Answer 26

Form of charcot marie tooth (CMT3) * _Early onset_ (\<2 years) with delayed motor development Extremely slow motor nerve conduction velocity (\<12m/sec) **Clinical features** * Developmental motor delay * Hypotonia * Areflexia * DISTAL (sometimes prox) weakness * foot deformity is common Diagnosis - Nerve biopsy: marked reduction in myelinated fibre density, thin myelin sheaths and onion bulb deformities - CSF protein elevated

Answer 27

Focal onset (unilateral) - awareness can be intact or impaired - can be motor (automatisms, atonic, clonic, spasms, hyperkinetic, myoclonic, tonic) - or non motor onset (motor features aren't the primary sx; autonomic, behaviour arrest, cognitive, emotional, sensory) - focal can become bilateral tonic clonic Generalised onset (bilateral involving both hemispheres) - motor (tonic clonic or other motor ex: clonic, tonic, myoclonic, atonic, epileptic spasms) - non motor (absence)

Answer 28

Jitteriness Sleep jerks Sleep walking day dreaming startle reflexes Night terrors Cataplexy/narcolepsy Syncope - vasovagal - orthostatic - reflex anoxic - CHD (AS, TOF) - arrhythmia Breath holding - cyanotic - pallid (vasovagal) CV - stroke - IC haemmhorage migraine w aura migraine variants - torticollis of infancy - benign paroxysmal vertigo - acute confusional migraine Metabolic disorders - hypoglycaemia - amino acidurias Movement disorders - tics - motor/autistic stereotypy's - chorea - dyskinesia

Answer 29

Prolongued standing anything unpleasant valsalva (cough, laugh, vomit, stretch, pee, breath holding, sitting or standing from lying (orthostatic) unusual to have trigger for seizure except in photosensitive patients

Answer 30

90% have myoclonus - arhythmic nad multifocal occasional just a few twitches or symmetric and generalised

Answer 31

1. precipitating event - syncope 50% - GTCS none 2. falls - syncope flaccid or stiff - GTCS stiff 3. convulsions - syncope 80%, usually \<30sec, arrhythmic, multi-focal and/or generalised - GTCS 1-2 min, rhythmic, generalised 4. eyes - syncope: open, transient upwards or lateral deviation - GTCS open, often sustained deviation 5. hallucinations - syncope: late in attack - GTCS: may precede seizure in focal epilepsy 6. incontinence - syncope : common - GTCS: common 7. tongue biting - syncope: rare - GTCS: common 8. post-ictal confusion - syncope: \<30sec with crying, upset lasting longer and may be fatigued, pale, clammy (are able to speak shortly after event) - GTCS: 2-20min (are not really able to speak for some time after event)

Answer 32

Triad of: 1. Infantile spasms - Clusters of 5-30sec apart - Often just after waking - Can be flexor, extensor or mixed - Can be asymmetric or have focal features 2. Hypsarrhythmia (EEG) - high amplitude abnormal rhythms 3. Arrest of psychomotor development (clinical) Peak age of onset is 3-7mo \>95% onset before 2yo 60% of patients have identifiable cause - Single most important cause is focal cortical dysplasia (surgical treatment)

Answer 33

IE severe myoclonic epilepsy of infancy Caused by mutation in SCN1a gene (Codes for neuronal VG Na channel) - \> results in premature stop codon and thus a non-functional protein - \> results in impaired Na passage and imaired GABAergic excitability Features - Onset of prolongued **seizures** triggered by **fevers** (vaccines -\> cause fever -\> seizure) in **1st year of life** - Subsequent appearance of afebrile focal, hemiclonic, myoclonic and generalised tonic clonic seizures; difficult to control w antiepileptic meds - Environmental temp insensitivity (warm temps -\> seizure) - **Developmental plateau or regression between 1-4 years** - **Ataxia** in childhood and adult onset crouch gait Ix EEG initially normal so have to test genetics (mutation in SCN1A gene)

Answer 34

IE epilepsy with myoclonic-atonic seizures onset 1-8yrs of age in previously normal children 50% response to treatment ketogenic diet is particularly effective in this condition

Answer 35

Doose syndrome/epilepsy with myoclonic-atonic seizures

Answer 36

Structural Genetic Infectious Metabolic Immune Unknown

Answer 37

* *_Neurocysticercosis_** - parasitic tissue infection caused by larval cysts of the tapeworm Taenia solium - causes **hippocampal sclerosis** - tx: _praziquantel or albendazole_

Answer 38

Affecting cortex Encephalopathy Seizures

Answer 39

Affects tracts Spasticity Cerebellary signs Other motor Progression over time, will eventually affect grey matter

Answer 40

term that describes _all of the brain white matter diseases_ Red flags - MOTOR stagnation or régression - sudden regression with intercurrent illness or head injury - mixed UMN and cerebellar signs - Mixed central and peripheral motor signs - Acquired macrocephaly - Deterioration in school performance, personality, visual/auditory problems, new onset hyperactivity in an adolesc2ent

Answer 41

Group within leukoencephalopathies problem in myelin sheath - Demyelinating (myelin is formed normally but is broken down) - Dysmyelinating (abnormally formed) - Hypomyelinating (never formed to begin with) - Spongioform (cystic)

Answer 42

Krabbe disease - Type of leukodysrophy * lisosomal storage disorder * AR Mutations in the **GALC** gene cause a deficiency of an enzyme called **galactosylceramidase** * buildup of unmetabolized lipids -\> degeneration of myelin sheath Rapidly progressive in infancy - \> rapidly progressive (3-4mo) painful spasticity - regression with irritability, **spasticity/stiffness**, seizures, myoclonus, visual loss - hyperrefleixa ?absent deep tendon reflexes (peripheral neuropathy) - death in 2-5 years - AR genetic condition - Diagnosis clinical, imaging and *_lysosomal studies_* - Genetics No treatment for this condition HSCT

Answer 43

Most common leukodystrophy affecting both central and peripheral myelin (demyelation/white matter loss) * AR Mutation in **ARSA gene** (arysulfate A gene) * _lysosomal_ sotrage disorder -\> _sulfatides build up_ in many tissues of the body -\> demyelination (PNS and CNS) 80% are 'infantile' type - _onset of sx in 2nd year_ of life - **regression, ataxia and optic atrophy** - death within months to years MRI - bilateral symmetrical confluent areas of periventricular deep white matter signal change, in particular around the atria and frontal horns with sparing of subcortical U fibres leading to a **"butterfly pattern"** there is a 'late onset' type with normal early development and sx onset in _3rd year of life_ with death by 5-10years Tx - gene therapy and BMT in early disease/prior to sx onset

Answer 44

X-linked condition Boys affected most but girls can have sx that onset later in life Progressive **peroxisomal** disorder of the CNS associated with **adrenal cortical failure** Clinical features variable - onset sx 5-10yo _- behaviour change (ddx adhd)_ is most common initial complaint, followed by _poor school performance_ - disturbance of _gait and coordination_, loss of _vision and hearing_ and _progression to a persistent vegetative state_ is the typical clinical pattern if not treated early - can be assoc w **adrenal insufficiency** Dx - Clinical features - CSF protein elevated - MRI evidence of **white matter abnormalities** = **Elevated levels of very long chain FAs** - **Genetics: ABCD1 gene mutation** (ATP-binding cassette subfamily D) -\> ALDP protein Tx - early tx is key! - Steroids for adrenal insufficiency - Lower VLCFA - Immune modulation - Gene therapy if caught early enough - \> Gene tx replacement - \> BMT

Answer 45

=cerebro-hepatorenal syndrome AR condition - mutation in multiple **PEX genes** associated with **peroxisome biogenesis** -\> unable to import proteins into peroxisomes efficiently Clinical features * *- dysmorphic** features (macrophephaly, flat/round face, _high forehead_, micrognathia, low, posterior ears, hypertelorism, cataracts, high arched palate) * *- Liver:** cirrhosis and jaundice * *- Renal:** PCKD * *- Neuro**logical - -\> mental retardation, regression - -\> seizures - -\> hypotonia - -\> SNHL - -\> retinal dystrophy - -\> structural abnormalities - MSK: Stippled epiphyses patella Ix: elevated VLCFA + genetics Tx - none. poor prognosis, often death within 6 months.

Answer 46

Progressive white matter disorder (infnatile onset ~2yo, juvenile onset 4-10yo) with early onset macrocephaly+/- hydrocephalus, psychomotor retardation/regression (incl speech, swallowing) , spasticity, seizures Death by 6yo Anterior white matter affected first (early onset motor problems due to early involvement corticospinal tracts) Clinical diagnosis Brain bx on post mortem Mutation in GFAP (glial fibriallary acidic protein gene No treatment yet ?gene tx in future

Answer 47

White matter disorder Developmental regression i infancy with visual loss Progressive head enlargement Seizures Spasticity Optic atrophy Death in childhod Clinical diagnosis (macro-healy) - Imaging (MRI) with white matter abnormalities, macrocephaly - N acetylaspartic aciduria - mutation in ASPA gene No treatment yet ?gene tx in future

Answer 48

Myelin protein disorder Hypomyelinating leucoencephalopathy (don't form myelin sheaths at all) Begin life with developmental delay Slow progression Psychomotor retardation, nystagmus, choreoathetosis, ataxia Death in second decade MRI - 'tigroid' appearance in white matter Genetics - X-linked, mutation in PLP1 gene

Answer 49

Lysosomal AR condition - accumulation in cholesterol and lipids Acute form - rapid progression hepatosplenomegaly and neurological deterioration with death by 6yo Subacute form - slower progression, death in 2nd/3rd decade **-cherry red spot macula** Dx - clinical Vacuolated histiocytes Sphingomyelinase deficiency Genetics

Answer 50

Severe regressive disorder AR, higher in jewish population Abnormal startle response to noise and light is first sx Regression at 4-6mo Cherry red spot macula Macrophephaly and seizures in 2nd year of life Death in early years Diagnosis - hexosaminadase A deficiency (lysosomal enzyme) Mutation in HEXA gene

Answer 51

Inherited AR disorder of copper metabolism Leads to EXCESSIVE copper accumulation and buildup in multiple organ systems Becomes toxic - liver -\> failure w haemolysis - brain (**_basal ganglia, thalamus)_** -\> neurological/psychological sx (parkinsonism, pseudo sclerotic, dystonia, chorea) - eyes -\> kaiser-flesher rings (_present when there is neurological involvement_) Tx - copper chelators ( **D-penicillamine** (DPA) or **trientine** (TETA), acting to increase copper excretion) - **zinc** salts (ZS), which reduce copper uptake. Relatively common (1/90 are carriers) Mutation in **ATP7B gene** which transports copper across membrane

Answer 52

X linked defect of copper transport and metabolism with abnormal intracellular copper utilisation (LOW total body Cu stores) Carriers don't have any sx Motor delay Early myoclonic seizures Hair - brittle, abnormally shaped Temp instability and feeding difficulties in neonatal period Prematurity common Shrinking of brain over time w formation of subdural haemmhorages and progressive neurological deterioration Death by 3 yo diagnosis based on clinical hx decr serum Cu and caeruloplasmin levels mutation in ATP7A gene tx supportive IM copper injections not evidence based

Answer 53

X linked condition (MECP2 gene on x chromosome) Presentation * Boys: lethal (FDIU) or neonatal encephalopathy * Girls: *normal early development* but over time (onset \>1yo) they begin in _loose speech and purposeful hand movements_ * Stereotyped hand movements - _hand wringing_ * _Acquired microcephaly_ * Develop seizures (GTCS) * Autism * Hyperventilation, apnoea, 'sighing' resps Diagnosis * clinical + genetic (MECP2 gene) Prognosis * Mat be non-ambulant w severe handicap for many years (survive into 30s, 40s) * Usually death from cardiac arrthmias

Answer 54

Group of genetic disorders w lipopigment deposition in neurone and some visceral tissues Normal early development Developmental regression starting from age 2-5 * Ataxia and choreoathetosis * Dementia Retinal degeneration Seizures Diagnosis - genetic; AR

Answer 55

Suspect in multisystem involvement Ataxia, seizures, neuropathy Sx and signs that come and go MRI lesions that change over time (grey and white matter) Ix - liver nad muscle bx - blood and CSF lactate can be elevated (but not always) - genetics

Answer 56

- Sudden stereotyped and repetitive, non rhythmic - May be quick and jerky but may also be slow - May be simple, seemingly purposeless, or complex - KEY - Premonitory urge or discomfort which is relieved following carrying out the tic - Briefly suppressible but build up of tension whilst it is suppressed - Evolves/changes over time, waxes and wanes, intermittent nature - Reduced when distracted with active mental tasks (passive tasks ie playing on iPad, watching tv etc doesn't count) - most kids grow out of this by adolescence/adulthood Must consider undiagnosed/untreated co-morbidities (ADHD, OCD, anxiety) Causes 1. idiopathic - transient (\<12mo) - chronic (\>12mo) - Tourette syndrome (waxing and waning motor and verbal tics \> 12mo) 2. secondary (rare) - sydenham chorea - post HIE - medications Treatment - Education - Clonidine - Risperidone - Behavioural treatments - Treat comorbidities (ADHD w stimulant, OCD, anxiety w SSRI)

Answer 57

- Sudden, stereotyped, repetitive movements ex: hand flapping, twirling at wrists, hand opening, finger wiggling, body rocking, facial grimace, may be more complex sequence of multiple actions (jumping, pacing) - Predictable, commonly with excitement, stress, engrossed - DO NOT evolve over time, persists (don't grow out of this) but over time reduce with increased social awareness - Give child enjoyment/positive gain - Can have vocalisations associated (hissing, muttering etc) Causes - primary (normal development) - secondary (assoc w neurodevelopment issues)

Answer 58

Twisting type movements w abnormally sustained muscle contraction - 'unbalanced' co-contraction of agonist and antagonist muscles - not rhythmic - twisting/distortion of body posture is key - does NOT occur during sleep - worse with attempted movement (looks normal when not moving/sitting etc) - task specificity (ie only when walking forwards, or only when watching tv) - sensory trick: light touch to a specific body part reduces dystonia

Answer 59

Dystonia - TONIC contraction of muscles, occurs at all speeds - Increases with TYPE of movement - Involuntary activation from CNS Spasticity - QUICK passive movement -\> sudden increased resistance - slow movement -\> decr resistance - increases with SPEED of movement - Reflex stretch activation of muscle related to corticospinal tract injury They can co-exist (ie in CP)

Answer 60

Benign/transient - Benign paroxysmal torticollis of infancy Acquired or secondary to innjury - term HIE - kernicterus - metabolic conditions - neurodegen conditions Genetic forms

Answer 61

L-DOPA trial Baclofen Anticholinergics (ex - artane/ benzhexol/ trihexyphenidyl, clonidine) Benzodiazepines Gabapentin Benztropin Botulinum toxin injections for focal dystonia Deep brain stimulation if medically refractory

Answer 62

Shock like rapid movement/twitches Not suppressible, no premonitory urge May be rhythmic or arrhythmic May be physiologic (physiological sleep jerks) May be epileptic in aetiology (need to do EEG) Causes - physiologic - HIE - autoimmune/paraneoplastic (opsoclonus myoclonus ataxia syndrome) - metabolic (tay sachs, wilsons, mitochondrial) - medication Tx - bentos - valproate - keppra

Answer 63

Oscillating, rhythmic, involuntary Usually single joint/fixed point but can also be an axis Causes - physiologic - Metabolic - Medicaitons - thyroid

Answer 64

Irregular, non rhythmic jerky movements Often distal muscles or face appears as random, purposeless NOT suppressible (vs tics are suppressible) Continuous, present at rest, flows from one part of body to another Can't maintain a fixed posture (stick out tongue - can't maintain this position etc) Causes - acute - sydenham's chorea OR SLE - genetic - metabolic (wilsons) - post cardiac bypass - Hyperthyroid - medications/drugs (antipsychotics) - psychogenic/functional Treatment - valproate - benzo - tetrabenazine - haloperidol

Answer 65

- Nonspecific term describing an excess of movement - Sudden abnormal movements that happen episodically 3 types: 1. paroxysmal kinesigenic dyskinesia: short duration frequent events, triggered by specific movements 2. paroxysmal non-kinesigenic dyskinesia: infrequent but may last hours-days 3. paroxysmal exercise induced dyskinesia: after several minutes of activity/exercise

Answer 66

UMN * Brain and SC * Lesion: Increased tone (spasticity), hyperreflexia, upgoing plantar response, weakness but no wasting LMN * Anterior horn cell, peripheral nerve, NMJ, Muscle * Lesion: hypotonia, reduced/absent reflexes, downgoing/equivocal plantars, weakness and wasting with fasciculations Cerebellar * Signs: ataxic broad-based gait, dysdiadokinesis, intention tremor, head tremor, imprecise movements in force and distance * Horizontal nystagmus towards affected side * Dysarthria

Answer 67

**Central/UMN causes (floppy STRONG, normal/brisk reflexes**) * HIE * Congenital infections, sepsis * Genetic/syndromal (T21, PWS, fragile x syndrome) * Metabolic (hypothyroid, peroxisomal, prader-willi) * Cerebral malformations * Dysmyelinating disorders * Spinal cord disorders * Benign congenital hypotonia (diagnosis of exclusion) **Neuromuscular/peripheral/LMN causes (floppy WEAK, areflexic, RFM in utero, feeding and breathing difficulties)** * Anterior horn cell * **--\> SMA** * Neuropathies * --\> Demyelinating and axonal infantile neuropathies * NMJ * --\> Transient autoimmune neonatal myasthenisa * --\> Congenital myasthenic syndromes * Muscle * --\> Congenital muscular dystrophies * --\> Congenital myopathies * --\> Congenital myotonic dystrophy

Answer 68

* Global delay (vs isolated motor) * Dysmorphic features * Malformations other organs * Reduced alertness * Seziures * Macro/microcephaly * Hx difficult delivery * Normal or brisk tendon reflexes * Fisting of hands, scissoring on vertical suspension Central/UMN causes (floppy STRONG, normal/brisk reflexes) * HIE * Congenital infections, sepsis * Genetic/syndromal (T21, PWS, fragile x syndrome) * Metabolic (hypothyroid, peroxisomal, prader-willi) * Cerebral malformations * Dysmyelinating disorders * Spinal cord disorders * Benign congenital hypotonia (diagnosis of exclusion)

Answer 69

Areflexia Weakness **Reduced in utero movements, polyhydramnios** Myopathic face Fasciculations Muscle atrophy **Ptosis Impaired extra ocular movements** Contractures **DDH Orthopaedic abnormalities** Family hx Neuromuscular/peripheral/LMN causes (floppy WEAK, areflexic, RFM in utero, feeding and breathing difficulties) * Anterior horn cell * --\> SMA * Neuropathies * --\> Demyelinating and axonal infantile neuropathies * NMJ * --\> Transient autoimmune neonatal myasthenisa * --\> Congenital myasthenic syndromes * Muscle * --\> Congenital muscular dystrophies * --\> Congenital myopathies * --\> Congenital myotonic dystrophy

Answer 70

* Muscular dystrophies (markedly elevated, \>1000) * DMD * Myotonic dystrophy * Myopathies (normal to 300s) * SMA (normal or mildly elevated) * Pompe disease (glycogen storage disorder type II)

Answer 71

CK level Nerve conduction and EMG Muscle biopsy

Answer 72

* Abnormally shaped muscle cells * Fatty infiltration * Nuclei are central rather than peripherally located within muscle cell

Answer 73

myotonic dystrophy freidrich ataxia

Answer 74

* SMA (spinal muscular atrophy) * non 5q sma * polio * enterioviral infections * Hopkins' syndrome * ALS (motor neuron disease)

Answer 75

Spinal muscular atrophy with resp distress Riboflavin transporter deficiency neuronopathy - responsive to riboflavin

Answer 76

CK - N/mildly elevated Nerve conduction studies - low amplitude motor responses, sensory responses normal EMG - active denervation of muscle --\> fibrillation, fasciculations --\> residual motor units have high amplitude Repetitive nerve stimulation: normal Genetic testing - SMN1 gene deletion/mutation

Answer 77

Post-infectious acute demyelinating polyneuropathy (affects peripheral nerves) GBS features * Onset 1-2 weeks post respiratory or gastro illness (campylobacter) * Progressive symmetrical **_lower limb weakness, ascending_** to involve UL * **Loss of reflexes** (LMN) * _Pain_ is common, neuropathic aetiology, poorly localised, irritability (consider in kids who are irritable and NWB) * Can involve sensory fibres as well (tingling, dysthaesias) * **Urinary retnention** or incontience Cx * **Miller Fischer syndrome: rare severe variant involving EOM (opthalmoplegia), ataxia and Areflexia with PROXIMAL muscle weakness** * **Bickerstaff encephalitis: encephalitis, ataxia, opthalmoparesis (subacute onset over ~1 week). BRISK reflexes.** * _Facial nerve palsy_ common * Resp failure * Aspiration from bulbar involvement * Autonomic sx are rare: HTN, bladder dysfunction, tachycardia Ix - 2/3 of following 1. CSF: **raised** **_protein and oligoclonal bands_** after 48 hrs of sx; **WCC normal** 2. Nerve conductions studies (delay/slow) - abnormal within 1st week of sx * Conduction block and reduced conduction velocity * Sensory nerves also affected in 50% 3. MRI - Nerve root enhancement Ddx * Tick paralysis * Poliomyelitis (asymmetrical; pain precedes weakness; no sensory sx or ANS involvement) Tx * IVIG 2g/kg over 2 days or plasma exchange (equally effective) * NOT steroids - can delay the recovery * Tx neuropathic pain (NSAIDs, gabapentin, CS) * Monitor for cx, may need resp support in ICU Prognosis * 90% recovery in children - almost all regain ability to walk * 5% will turn out to have CIDP (chronic disease, lots of relapses) and will require long term tx

Answer 78

Chronic inflammatory polyneuropathy 2 types - Relapsing/remitting or slowly progressive course Features - initially looks like GBS but continue to have ongoing episodes - Weakness - proximal and distal - Sensory - distal, less prominent than motor involvement - Cranial nerve and bulbar involvement in a minority - reduced/absent reflexes Ix - diagnosed on nerve conduction studies Tx - Recurrent IVIG or plasma exchange - steroids - immunosuppression

Answer 79

CSF secreted by choroid plexus in lateral ventricles -\> through into 3rd ventral -\> cerebral aqueduct -\> 4th ventricle -\> SA space, bathing and coating external brain and spinal cord -\> reabsorbed in dural venous sinuses via arachnoid villi (this is why subarachnoid haemmhorages have frank blood from LP that DOES NOT CLEAR)

Answer 80

* Obstruction to CSF drainage * Blocked shunt * Mass: Tumour/haematoma/cyst/abscess * Congenital aqueduct stenosis * Dandy-Walker cyst - cyst -\> occlusion to exit of 4th ventricle and subsequent dilatation of 4th ventricle * Arnold-chiari malformation: downward displacement of cerebellar tonsils and brainstem +/- spina bifida * Increased secretion (by choroid plexus) * Choroid plexus papilloma (v rare) * Impaired absorption by arachnoid villi in dural venous sinuses * dural venous sinus thrombosus cuasing venous hypertension * Infection (toxo, CMV, Tb meningitis) * IV or IC bleed

Answer 81

Autoimmune encephalitis - elevated **IgG +/- oligoclonal bands** in CSF and elevated WCC AntiNMDA R antibodies in CSF (15% serum neg) - directed against GluN1 subunit of NMDA Receptor Presentation - subacute to insidious onset of sx - prodrome in 50% of fever, headache, urti sx - early encephalitis: **seizure or movement disorders** (PD-like), psychosis, cognitive and memory disturbances - late encephalitis (1-2 weeks): language deterioration/**mutism** -\> autonomic dysfunction Risk of associated **ovarian teratoma** in 10-20% (need imaging to screen for this) or 2/3 of post-pubertal children Associated with previous **HSV encephalitis** (20% of these relapse with AI encephalitis) Tx- IVIG and streoids +/- immunosuppression (ritux is 2nd line)

Answer 82

4th CN (Trochlear) - SO muscle 6th CN (abducens) - lateral rectus muscle -\> outwards gaze Due to their long pathway in CSF, get squished w incr ICP

Answer 83

Tumour Abscess

Answer 84

- Embolisation – cyanotic congenital heart disease with R to L shunts (TOF) - Immunodeficiency Spread of infection from - Endocarditis - Meningitis - Chronic otitis media and mastoiditis - Sinusitis Soft-tissue infection of face or scalp - Orbital cellulitis - Dental infections - Severe complicated pneumonia - Penetrated head injury - VP shunt infection

Answer 85

Even - right side Odd - left side Space between lines is 1 sec * (how many spikes in 1 sec = hz) generalised - all the leads focal - just a few leads affected

Answer 86

Ethosuximide is first line Sodium valproate or lamotrigine

Answer 87

Steroids vigabatrin

Answer 88

Nothing Low dose CBZ

Answer 89

phenobarbitone

Answer 90

carbamazepine

Answer 91

lamotrigine

Answer 92

Benign rolandic epilepsy

Answer 93

Dravet syndrome

Answer 94

infantile spasms

Answer 95

childhood Absence epilepsy

Answer 96

Lennox-Gastaut syndrome (often structural/genetic and refractory to tx) severe form of epilepsy that typically becomes **apparent during infancy or early childhood**. Affected children experience **several different types of seizure**s most commonly _atonic, tonic and atypical absence_ seizures. Children with Lennox-Gastaut syndrome may also develop **cognitive dysfunction**, **delays in reaching developmental** milestones and **behavioral problems**. Lennox-Gastaut syndrome can be caused by a variety of underlying conditions, but in some cases no cause can be identified. Lennox-Gastaut syndrome can be difficult to treat because it is **resistant (refractory) to many kinds of antiseizure medications.** _3 findings are necessary for the diagnosis:_ 1. Multiple generalized seizure types 2. A slow spike-and-wave pattern (less than 2.5 Hz) on EEG 3. Cognitive dysfunction.

Answer 97

Pudendal nerve S2-4

Answer 98

Peroneal - Fibular head -\> prolonged squatting or leg crossing L5 - Back -\> disc herniation, spinal stenosis Both present similarly - motor: dorsiflexion - sensory lateral calf and dorsal foot

Answer 99

An inflammatory demyelinating disorder of the optic nerve that causes acute visual loss Can be unilateral or bilateral Causes Can be isolated or can be due to other underlying pathologies e.g. ADEM, MS, NMO or MOG (myelin oligodendrocyte glycoprotein) optic neuritis Presentation - visual loss, uni or bilateral which occurs over hrs or days, peaking at 1-2 weeks - colour desaturation - eye pain w movement - often occurs para/post infectious or post vaccination Mx - steroids Prognosis 1/3 go on to develop MS

Answer 100

Both mutations in dystrophin gene Duchenne - out of frame gene change (the whole gene is stuffed up) -\> absent protein * -\> more severe sx * gower's sign 3-6 years * waddling trendelenburg gait * calf muscle pseudohypertrophy (replaced w fat) as a toddler * scoliosis * pharyngeal weakness * resp failure * dilated cardiomyopathy * -\> age onset 2-3 yo (normal early motor development) * -\> time to wheelchair age 13 * -\> CK more elevated Beckers - in frame gene change (only affects a portion of gene) -\> reduced protein * -\> less severe * -\> age onset 5-60 yrs * -\> dilated cardiomyopathy often predominant feature in presentation * -\> time to wheelchair adulthood

Answer 101

**Porencephaly** Cysts or cavities within the brain that often result from infarct or haemmhorage **Sypmtoms** * Focal neurology depending on location * Spastic hemiparesis or quadriparesis * Optic atrophy * Seizures * Developmental delay

Answer 102

Double cortex syndrome Type of Neuronal heterotopia (ectopic) MRI: band of grey matter located deep to and roughly paralleling the cortex **Intractible seizures common** ## Footnote **Women only**

Answer 103

**Clefts** Unilateral or bilateral slits or clefts within the cerebral hemispheres due to abnormal morphogenesis Cleft may be fused or unfused – _if unilateral and large can be confused for porencephalic cyst_ Present with seizures, microcephaly, severe ID and partial or complete paralysis

Answer 104

**Lesch Nyhan Syndrome** * Metabolic disorder * deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, responsible for recycling purines by converting guanine and hypoxanthine into guanosine monophosphate and inosine monophosphate, respectively. * Lack of the enzyme causes an _increase in guanine and hypoxanthine, which eventually gets converted into uric acid_. * HPRT deficiency results in a spectrum of clinical presentations depending on the severity of enzyme deficiency. With an enzyme activity of less than 1.5%, Lesch Nyhan falls towards the severe end of the spectrum. * The characteristics defining the disease are **hyperuricemia (gout, kidney stones, renal failure etc),** neurodevelopmental abnormalities with **global developmental delay**, **involuntary movements**, and **self-injurious behavior.**

Answer 105

Type 1 1. Cutaneous = café au lait macules, axillary or inguinal freckling 2. Eyes = Lisch nodules 3. Tumours = peripheral neurofibromas (neurofibroma, plexiform), optic pathway glioma, CNS neoplasms, other sarcomas 4. Bone abnormalities = long bone dysplasia, pseudoarthrosis, short stature, scoliosis 5. Neurological = cognitive, autism, seizures 6. Hypertension

Answer 106

Type 2 1. Vestibular schwannomas – bilateral 2. Meningioma 3. Schwannoma at other locations 4. Glioma 5. Neurofibroma 6. Posterior subcapsular lenticular opacity

Answer 107

Von-hippel-Lindau Disease * abnormal growth of both benign and cancerous tumors and cysts in many parts of the body * autosomal dominant genetic condition resulting from a deletion or mutation in the VHL gene * may experience tumors and/or cysts in up to ten parts of the body, including the brain, spine, eyes, kidneys, pancreas, adrenal glands, inner ears, reproductive tract, liver and lung: Brain/Spinal Hemangioblastoma Headaches, ataxia, nystagmus, back pain, numbness, hiccups Retinal Hemangioblastoma Floaters, retinal detachment Endolymphatic Sac Tumor Hearing loss, tinnitus, vertigo Pancreatic Cysts/Tumor/Cancer Pancreatitis (from blockage of bile ducts), diabetes (from blockage of insulin delivery), digestion irritability, malabsorption, jaundice Pheochromocytoma, Paraganglioma High blood pressure, panic attacks (or post-operative adrenal insufficiency) Kidney Cysts, Renal Cell Carcinoma Lower back pain, hematuria, fatigue Cystadenomas (males and females) Pain: consider rupture, hemorrhage, torsion (possible ovarian cancer)

Answer 108

Fabry disease absent or markedly deficient activity of the lysosomal enzyme, **α-galactosidase A** (α-Gal A). This disorder belongs to a group of diseases known as **lysosomal storage disorders.**

Answer 109

1. Eyes = multiple retinal lesions (hamartomas; rarely affect vision) 2. Neurological * Sub-ependmyal glial nodules (SEN) - project into venticles and calcify w 'candle dripping apperance on CT * Sub-ependymal giant cell astrocytomas (SEGAS) * Cortical tubers - hard nodules. may calcify * Epilepsy, infantile spasms -\> use _vigabatrin_ for seizures * Autism * cognitive impairment 3. Skin lesions * Angiofibromas cheeks, nose (85%) * hypomelanotic lesion/ash leaf macules (80%) - need woods lamp * Shagreen patch ('orange peel skin' over spine), * ungal or periungal fibromas * fibrous plaques to forehead/scalp 4. Other organ involvement = -\> * CARDIAC: rhabdomyosarcoma (40-50%, mostly benign and regress) * RENAL: Angiomyolipoma, single or multiple cysts, hamartomas, angiomyolipoma * LUNG: lymphangioleiomyomatosis * DENTAL: pits in dental enamel * GIT: hamartomatous rectal polyps * Bone: cysts

Answer 110

* Unilateral weakness that accompanies a migraine headache * Cause by a motor aura (cortical spreading depression across the motor cortex) * Can occur in families or in one individual (sporadic) * The hemiplegia does not have to occur with all migraine attacks * Triggers include stress, sleep deprivation, bright lights * Same treatments as for typical migraine, however the use of triptans for hemiplegic migraine is controversial * No clinical trials regarding specific treatments

Answer 111

avoid carbamazepine, gabapentin, vigabatrin and tigabine as aggravate seizures

Answer 112

Simple = generalised, tonicclonic seizure lasting \<15 minutes that do not recur within the same illness Complex = have one or more of the following features o Focal features at onset or during seizure o Duration of \>15 minutes o Recurrence within the same febrile illness o Incomplete recovery in an hour

Answer 113

Risk of future afebrile convulsions (epilepsy) is increased by o Family history of epilepsy o Any neurodevelopmental problem o Atypical febrile convulsions (prolonged or focal) Based on number of risk factors o No risk factors: risk of subsequent epilepsy approx. 1% (similar to population risk). o 1 risk factor: 2%. o More than 1 risk factor: 10%.

Answer 114

Progressive distal muscle weakness * Conenital/Type 1 is childhood onset (type 2 is adult onset) Genetics * **AD** * _Expansion of **CTG trinucleotide repeat**_ (DM1) and CCTG tetra nucleotide repeat in DM2 * **Anticipation occurs: more severe w each generation** * **Worse if inherited from mother** Presentation * resp failure (req ventilation from birth), facial muscle weakness, feeding difficulty, hypotonia may be present **_from birth_** * progressive **_distal_ skeletal muscle weakness and myotonia** (inability to relax muscle after contraction (ie grip) * cardiac conduction abnormalities (cardiomyopathy, arrhythmias) * cataracts * learning diability 50% * Endo - hypogonadism, diabetes ix - genetic testing for trinucleotide repeat (dm1) + clinical (shake hands w child and parent - they can't let go quickly due to myotonia) Mx - phenytoin or carbamazepine can help w myotonia Prognosis - death from arrhithmia

Answer 115

- Cystic fibrosis - Fatty acid oxidation defects - organic academias - amino acidaemias - maternal B12 deficiency - congenital hypothyroidism (incr TSH)

Answer 116

Acutely raised ICP * Nurse head in midline at 45deg angle * IV mannitol or hypertonic saline * Normoventilation (low Co2 causes cerebral vasoconstriction w risk of hypoperfusion and elevated CO2 will worsen ICP) * Minimise cerebral metabolism: sedation, analgesia, muslce paralysis, low:normal temp etc * Treat the cause (steroids for cerebral oedema, surgery for blocked shunt or acute bleed etc) Chronic * Acetolamide: reduce cerebrospinal fluid (CSF) secretion via its action on the choroid plexus (CP) * Steroids (for inflammatory aetiolgoy) * Shunt insertion * Treat underlying cause *

Answer 117

* Infection * CMV * Toxoplasmosis * Tb * HIV * Syndromes (phakomatoses) * Tuberous sclerosis (scattered nodules) * NF (angiomas, gliomas) * Sturge Weber syndrome (plaques) * Von Hippel–Lindau disease * Tumours * craniopharyngomas * pituitary adenoma etc * Intracranial bleed/haemmhorage or post trauma

Answer 118

1. Olfactory - smell 2. Optic - vision 3. Oculomotor - all EOM except superior oblique and lateral rectus 4. Trochlear - Superior oblique (intorsion) 5. Trigeminal - Massetor muscles and sensation to face and taste ant 2/3 tongue 1. V1 - opthalmic branch 2. V2 - maxillary branch 3. V3 - mandibular branch 6. Abducens - lateral rectus 7. Facial - Facial muscles, submand/subling/lacrimal glands, taste to posterior 1/3 tongue 8. Vestbulocochlear - hearing nad balance 9. Glossopharyngeal - Parotid gland; gag afferent, sensation to pharynx 10. Vagus - Gag efferent, vagal stuff 11. Accessory - Sternomastoid, trapezius muscles 12. Hypoglossal - tongue musclecs

Answer 119

Premature closure * Hyperthyroid * Craniosynostosis * Microcephaly Delayed closure * Hypothyroid * Malnutritin * Rickets * Hydrocephalus * Osteogenesis imperfecta * Down syndrome/T13 other syndrome

Answer 120

Neural tube defect caused by failure of vertebral arch fusion (L5, S1) Can be open (spinal or cranial) or closed (skin overlying defect is intact) Overlying spinal skin defects include: hair tuft, sinus, lipoma, pigmented lesion Sx - Mostly asymptomatic but neural tethering can cause cauda equina synd rome: - motor weakness - sensory loss - reflex changes - abnoral plantar response - neurogenic bladder - scoliosis

Answer 121

**Type 1 (i.e. classic)** * Associated with facial dysmorphism and sometimes deletions of chromosome 17p (Miller-Dieker syndrome) * Hypotonic at birth -\> spastiticity * Developmental delay * Infantile spasms **Type 2 'cobblestoning' = Walker-Warburg syndrome** * Autosomal recessive * Most severe form of congenital muscular dystrophy -\> death before age 3 * Brain (hydrocephalus, hypotonia, weakness, occasional seizures) and eye abnormalities (ocular dysplasia (cataracts etc)) * Caused by hypoglycosylation of α-dystroglycan. * Serum CK elevated * Myopathic/dystrophic muscle pathology and altered α-dystroglycan

Answer 122

Spastic - intial hypotonia progressing to spasticity w UMN signs * hemiplgia - one side of body (arm \> leg) * diplegia - usually both legs * quadriplegia - all limbs involved (arms \> legs) Ataxic hypotonic - hypotonia, poor balance and incoordination Dyskinetic - involuntary movements ++ with fluctating tone

Answer 123

SSPE = subacute sclerosing panencephalitis - neurodegenerative condition secondary to altered host response to measles virus - develops 5-7 years agter measles virus - end result is myoclonus, choreoathetosis -\> dementia and death

Answer 124

Lendau-Kleffner syndrome

Answer 125

Batten disease (Ceroid lipofiscinosis) * Vision loss = retinitis pigmentosa * AR condition

Answer 126

* 80% Antenatal insult (congenital infection, cerebral dysgenesis or malformation) * 10% Intrapartum (HIE) * 10% PN (IVH, hydrocephalus, head trauyma NAI, kernicterus, cerebral ischaeemia etc)

Answer 127

* Acute inflammation of cord -\> paraplegia * Causes * viral infection: EBV, HSV, Mymps, rubella, influenza * MS * Radiotx * Anterior spinal artery occlusion * Presentation (note affects LEGS predominantly with *clearly definited motor/sensory levels*) * Acute onset: weakness (flaccid -\> spastic) * Sensory loss: pain, temp, light touch * Sphincter disturbance * Back pain * Fever * Nuchal rigidity * Prognosis - often complete spontaneous recovery; supportive tx

Answer 128

Antibodies * IgM and IgG **Ab to AcH receptors** at the NMJ (type II HS) * only 50% Ab positivity in children (95% in adults) 15% of MG patients have **thymomas** * Titin and ryanodine receptor **(RyR) antibodies** are found in 95% of thymoma MG Age of onset generally ~30yo Sx * **EOM involvement -\> diplopia, ptosis** * **Dyspahgia** (bulbar muscles) * Muscle fatigueability: progressive weakness with use \*key\* * Proximal limb weakness * Sad facial expression (facial muscle weakness) Ix * Serum AchR antibiodies * Positive tensilon test: administer anticholinesterase w transient relief (edrophonium IV) * Nerve stimulation test: **fatiguability w repititon** Mx * Anticholinesterase drugs (neostigmine, pyridostigmine) * Thymectomy (role of thymus is unclear but removal can iomprove sx or cure disease) * Steroids * IVIG * plasmapheresis * Immunosuppression Risk to babies in mothers w MG is * Transient neonatal MG: maternal antiAcHR Ab cross placenta and cause transient neonatal disease lasting 2-3wks (similar to graves) * weak cry, opthalmoplegia, weak facial and bulbar muscles

Answer 129

Type 2 Lissencephaly (smooth brain) = **Walker-Warburg syndrome** * Autosomal recessive * Most severe form of congenital muscular dystrophy -\> death before age 3 * _Brain (hydrocephalus, hypotonia, weakness, occasional seizures) and eye abnormalities_ (ocular dysplasia (cataracts etc)) * Caused by ***hypoglycosylation of α-dystroglycan.*** * _Serum CK elevated_ * Myopathic/dystrophic muscle pathology and altered α-dystroglycan

Answer 130

Joubert syndrome Associated later in life: Retinal dystrophy, renal (kidney) disease, ocular colobomas, occipital encephalocele (protruding tissue at the back of the skull), fibrosis of the liver

Answer 131

Acute stroke-like episodes that result in hemiparesis, hemianopia, or cortical blindness. MRI changes show non-static stroke-like lesions that don’t classically correspond to vascular territories.

Answer 132

1. Chorea and dysarthria 2. Emotional lability (also OCD/psych illnesses assoc) 3. Hypotonia 1. Positive Milkmaid’s sign is when you ask the patient to grip your finger. They are able to do so but cannot sustain the contraction because of chorea and hypotonia so repeatedly release and grip again – making a “milking” motion. This sign, along with “spooning”, “touchdown” and “darting tongue’ are all signs that support the diagnosis of SC.

Answer 133

• Initial treatment is with **heparin or LMWH** _until cardiac embolization or dissection excluded_ • If dissection excluded change to **anti-platelet agent for 2 years** • If disxsection confirmed then oral anti-coagulation for at least 3 months • Thrombolysis within 3 hours of onset of stroke is not routinely used or recommended

Answer 134

**NMO syndrome** - Inflammatory demyelinating disease of optic nerves, brainsteam and spinal cord - Presents post pubertally (median age 39) Antibodies * MOG positive 58% * AQP4 antibodies 11% - assoc w agressive disease and 80% risk relapse and * 50% chance of bilndness and wheelchair bound by 5 yrs after onset * Serum Ab levels correspond w disease activity MRI can be normal initially, develop cerebral white matter lesions over course of the disease Treatment w * steroids (long taper) +/- IVIG or plasma exchange * High risk relapse so follow up with immunomodulatory tx (**mycophenolate** or **ritux**)

Answer 135

MOG assoc is more responsive than AQP4 Ab disease Longer steroid tail wean with MOG assoc disease due to higher risk of relapse

Answer 136

**Opsoclonus myoclonus ataxia syndrome** * Autoimmune inflammatory reaction targeting CNS tissues * Triggered by neoplasm or infectious event * 50% occult neuroblastoma (more common in 1-2 yo group) **Ix** CSF: normal or mild pleocytosis; 30% oligoclonal bands Urine catecholamines (HVA, VMA) + in 95% MIBG MRI full body **Treatment:** resection of any tumour then steroids, IVIG -\> ritux is second line

Answer 137

Bickerstaff encephalitis - triad: 1. Ataxia 2. Opthalmoparesis (subacute onset over ~1 week) 3. Encephalitis 4. BRISK reflexes. Miller Fischer syndrome - triad: 1. Opthalmoplegia 2. Ataxia 3. Areflexia with PROXIMAL muscle weakness Both rare variants of GBS

Answer 138

Campylobacter

Answer 139

vitamin D deficiency

Answer 140

1. CMT - distal 2. SMA II - generalised, tongue fasciculations 3. Congential myopathy - generalised 4. SMA III - proximal 5. LGMD (duchennes) - proximal, will have scapular winging and gower's sign and waddling gait 6. FSHD - shoulders, face, outer calves