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Paediatrics > Neurology > Flashcards

Neurology Flashcards

1
Q

What are the neurocutaneous syndromes?

A

(Ectodermal origin)
Neurofibromatosis type 1 - most common
Tuberous sclerosis
Sturge Weber

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2
Q

What are the features of NF type 1?

A 
1:3000, AD, high penetrance, 1/3 new mutation
Criteria (2 or more)
-6 or more cafe au lait spots
->1 neurofibroma
-Axillary freckles
-Optic glioma
-Lisch nodules
-Sphenoid dysplasia
-1st degree relative with NF1
(NF2 is in adolescents with bilateral acoustic neuroma)
Both types are Associated with MEN, phaeo, PHT, RAS
Can become sarcomas
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3
Q

What are the features of tuberous sclerosis?

A 
Inherited or new
-Depigmented ash leaf patches
-Shagreen patches over flanks
-Adenoma sebaceum angiofibromata
-infantile spasms, DD, focal epilepsy, intellectual impairments, learning difficulties, autism
-subungual fibromata
-phakomata in retina
-Rhabdomyomata in heart
-PCKD
CT brain tubers after 2 years
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4
Q

What are the features of Sturge Weber syndrome?

A

Port wine stain hemangiomas in trigeminal nerve
Always ophthalmic division
Skull x ray rail road tracks - calcified gyre
Epilepsy
Learning difficulty
Hemiplegia

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5
Q

What are neurodegenerative disorders?

A

Deterioration of motor and intellectual function
Seizures, spasticity, macro/microcephaly, movement disorders, vision/hearing loss, behaviour change
(developmental regression + neuro signs)
-Lysosomal storage disorders
(lipid storage disorders, mucopolysaccaridoses)
-Wilson disease
-SSPE (measles)

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6
Q

What is mucopolysaccharidoses?

A

Neurodegerative disorder
Due to glycosaminoglycans storage defect
Multisystem (neuro, ocular, cardio, skeletal)
6 months normal then DD then regression

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7
Q

What are the lipid storage disorders?

A 
Tay Sachs (Hexosaminidase A defect)
-late infancy social unresponsiveness
-Die at before 5 years
-cherry spot in macula
Gaucher (beta glucosidase)
-splenomegaly
Niemann Pick (sphingomyelinase)
-after 3 months get DD, vision/hearing loss, FTT)
-cherry spot in macula, die at 4 years
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8
Q

What are the features of hydrocephalus?

A 
Increasing head circumference > 2 SD
Separation of sutures
Bulging fontanelle
Distended scalp veins
Sun set eyes
Raised ICP and its effects
Can be diagnosed antenatally
Rx - VPS or endoscopic venticulosotomy
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9
Q

What are the causes of hydrocephalus?

A 
Non communicating
-Aqueduct stenosis
-Dandy Walker malformation
-Chiari malformation
-posterior fossa neoplasm/SOL
Communicating
-SAH
-Meningitis
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10
Q

What causes NTD?

A

Failure of fusion of the neural plate during first 28 days of embryogenesis.
Risk of 2nd fetes having NTD increases by 10x if 1st fetes had NTD

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11
Q

How is folic acid supplemented?

A 
High dose (5 mg od) for high risk
Low dose (0.4 mg od) for low risk
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12
Q

What are the NTD?

A 
Anencephaly (fatal, do TOP)
Encephalocoele (surgery)
Spina bifida occulta (tethering can cause bladder/LL)
Meningocoele (surgery after birth)
Meningomyelocoele (bad prognosis)
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13
Q

How to identify spina bifida occulta?

A 
Tuft of hair
Lipoma
Birth mark
Dermal sinus
Incidental Xray, USS, MRI
Rx - releasing tethered cord
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14
Q

What are the effects of myelomeningocoeles?

A

LL paralysis –>contractors –> physiotherapy
Neuropathic bladder –>CUR/hydroneph –> catheter
Neuropathic bowel –> fecal impaction –>laxatives
Sensory loss –>pressure sores –> skin care
Hydrocephalus from Chiari –> VPS
Scoliosis –>surgery
Hip dislocation and talipes

Most severe if spinal L3 or above lesion

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15
Q

What are the cerebrovascular diseases in children?

A

Intracranial haemorrhage
-EDH from head trauma (shock, anemia, neuro signs)
middle meningeal artery foramen spinosum
-SDH from non accidental injury (retinal haemorrhage)
bridging veins
-SAH (acute headache, neck stiffness, fever)
AVM or aneurysm
Dont do LP acutely
Stroke
-Infantile
-Childhood

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16
Q

How to investigate stroke?

A 
MRI and MRA
Carotid doppler
Echocardiography
Thrombophilia and vasculitis screen
Homocysteine
Rx- Aspirin prophylaxis
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17
Q

What are the causes of childhood stroke?

A 
Varicella / post viral
SLE/vsculitis
Homocysteinuria, CADASIL
Sickle, deficienct antithombins protein S
Cyanotic CHD TOF
Moyamoya vascular
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18
Q

What are the ataxias in children?

A

FRIEDRICH ATAXIA
-AR gene Frataxin
-ataxia, distal leg wasting, absent LL reflexes, Babinski+, pes cavus, dysarthria, optic atrophy, dorsal tract signs
-premature adult death from CMP
ATAXIA TELANGIECTASIA
-AR gene ATM
-Infants with oculomotor dyspraxia later get ataxia when school age, then dystonia in adolescence, then wheelchair bound
-telangiectasia show after 4 years in conjuctiva, torso
-IgA defect –> infections
-Risk of ALL in 10%
-High AFP

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19
Q

What are the neuromuscular disorders in children?

A

AHC (SMA, poliomyelitis)
Neuropathy (hereditary MSN, GBS, Bell palsy)
NMJ (MG)
Muscle (DMD, BMD, myositis, myotonia, myopathy)

DMD is the most common

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20
Q

What are the features of neuromuscular disorders?

A 
Weakness (progressive or static)
Delayed motor milestones
Floppiness
Gait disorder
Fatigability
Cramps
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21
Q

What is Duchenne muscular dystrophy?

A

Inherited progressive muscle degeneration
X linked recessive, 1:4000 males, 1/3 new mutations
Dystrophin on Xp chromosome
Myofibre necrosis and high CPK
Waddling gait, slow running, climbing difficulty, Gowers+
Pseudohypertrophy (fat sclerosis of muscles)
Present at 5 years age or earlier
Non ambulatory by 15 years or earlier
Die before 25 years or later from respiratory failure/CMP
1/3 have learning difficulties
Scoliosis is a common complication
BMD (some dystrophin, so present at 11, can’t walk in 20s, live to 40s)

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22
Q

How is DMD managed?

A 
Exercise
Stretching
Orthoses
Achilles lengthening
Truncal brace
CPAP
Support groups
Prednisolone for 10 days each month
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23
Q

What is myotonia dystrophica?

A

Delayed muscle relaxation after contraction
Hypotonia and weakness, learning difficulties
Testicular atrophy and baldness, cataracts
Death from CMP

24
Q

What are the types of myopathies?

A

Congenital
Metabolic (glycogen storage disease, carnitine, mitochondrial)
Inflammatory (benign post viral, dermatomyositis)
-Dermatomyositis (symmetrical proximal weakness at 5 years with heliotrope rash)

25
Q

What are the features of juvenile myasthenia?

A 
Ab to AChR in motor end plate
After 10 years age
Ophthalmoplegia and ptosis
Difficult chewing and facial weakness
Generalized proximal weakness
Dx - improves after IV edrophonium, Anti-MUSK, AcHR Ab
Rx - Neostigmine, plasma exchange for crises
CT chest for thymoma, thymectomy
26
Q

What are the features of HMSN?

A 
Symmetrical progressive wasting
Distal > proximal, legs > arms
In children
AD Charcot marie tooth, common one
Nerve Bx - onion bulb hypertrophy
27
Q

What are the features of GBS?

A 
2 weeks after URTI/campylobacter AGE
peak after 2 weeks from onset
Ascending symmetrical weakness 
Global areflexia
Dysautonomia
Aspiration risk from bulbar involvement
Respiratory failure
95% full recovery 
CSF protein high but WBC normal (do after 1 week)
Rx - supportive, plasma exchange/Ig
Don't give corticosteroids
28
Q

What are the features of Bell palsy?

A

isolated LMN facial nerve palsy
Mostly full recovery but over months
Associated with COA so exclude hypertension
Can cause xerophthalmia (eye patch)
Rx - Corticosteroids. Not acyclovir
DDx - herpes zoster (acyclovir), CPA angle tumor

29
Q

What are the AHC disorders (SMA)?

A 
Weakness, wasting, areflexia
SMA is AR mutation in SMN gene
Degeneration of AHC, severe progressive
Type 1 In early infancy
Intercostal recessions, tongue fasciculations
Cant sit without aid
Die before 1 year from respiratory failure
Type 2 can't walk
Type 3 can walk
30
Q

What are the causes for a floppy infant?

A 
Central (no truncal tone) or Peripheral (no limb tone/reflexes)
Central
-Cortical (HIE, mal-cortex)
-Genetic (Down, Prader Willi)
-Metabolic (hypothyroidism, hypocalcemia)
Peripheral
-SMA
-Myopathy
-Myotonia
-Congenital myasthenia
31
Q

What are the causes for central motor disorders?

A 
Pyramidal tract disorders (adducted, flexed limbs)
-HIE
-Stroke
-Tumor
-Hemiplegic migraine
-Cerebral dysgenesis
Basal ganglia disorders (dystonia, chorea, athetosis)
-HIE
-RF
-Wilson disease
-Huntington disease
Cerebellar disorders (scanning dysarthria, cerebellar signs)
-Post viral (varicella)
-Medulloblastoma
-Ataxias
32
Q

What are the causes of headache?

A 
Primary
-Migraine (Without aura/ with aura)
-Tension (symmetrical, gradual)
-Cluster
Secondary
-Trauma
-AVM/ICH
-Raised ICP/idiopathic intracranial hypertension
-Substance abuse/withdrawal
-Meningoencephalitis
-Hypertensive encephalopathy
-Sinusitis/Otitis
Cranial neuralgias
-Trigeminal neuralgia
-Herpes zoster
33
Q

What are the types of migraine?

A

Without aura
-90%
-lasts 1-72 hours
-Bilateral or unilateral
-Pulsatile over temporal or frontal area
-Photophobia, phonophobia, NV, abdominal pain
-Aggravated by movement
With aura
-10%
-Preceded by visual/sensory/motor aura
-Visual positive phenomena (fortification spectra zig zag)
-Visual negative phenomena (hemianopia, scotoma)
-Premonitory symptoms (tiredness, inattention, autonomic features)

34
Q

What are the migraine triggers?

A 
Genetic
Changes in biorhythms
Cheese
Chocolate
Caffeine
Menstruation
OCP
35
Q

What are the features of a SOL?

A 
Headache (worse supine, morning vomiting, straining)
Mood, personality, school performance changes
Visual field defects
Focal signs, diplopia, squint
Gait change
Torticollis
Growth failure
Papilledema
Cranial bruits from AVM
36
Q

How to manage headache?

A

Classify type
Exclude secondary causes
Imaging only if red flags
Exclude sinusitis, otitis, TMJitis, hypertension
Rescue Rx (PCM, NSAIDS, metoclopramide, sumatriptan-serotonin agonist)
Prophylactic Rx (Pizotifen serotonin antagonist, propanolol, valproate, topiramate)
Psychiatric - relaxation techniques

37
Q

What is a seizure?

A

Sudden disturbance in neurological function
From abnormal or excessive neuronal discharge

Types (epileptic, non-epileptic)

38
Q

What are the Ddx for epilepsy in the history?

A

Breath holding attacks (temper, cyanosis, syncope, recover)
Reflex anoxic seizures (pain, apnea, pallor, GTCS, recover)
Syncope (faint, clonic)
Migraine
Benign paroxysmal vertigo

39
Q

What are febrile seizures?

A 
Fever + GTCS seizure without intracranial infection
6 months to 6 years, 3% of children
10% risk if familial
30% recurrent
1% chance of epilepsy (same as gen pop)
40
Q

What factors increase the risk of recurrent febrile seizures?

A

Younger age
Early onset seizures in illness
Lower temperature at seizure onset
FHx

41
Q

What are the types of febrile seizures?

A 
Simple (no complications)
Complex
-focal
-prolonged
-repetitive in same illness
-4% risk of epilepsy
42
Q

What is the management of febrile seizures?

A 
Acute seizure management
Exclude meningitis/encephalitis
Septic screen
Antipyretics
Advice on seizure first aid, rescue therapy
NO AED
NO EEG
43
Q

What are the causes of seizures?

A 
Epileptic
-Idiopathic
-Secondary (mal cerebrum, vascular, TORCH, HIE)
-CNS tumor
-Neurocutaneous syndromes
-Neurodenegrative disorders
Non epileptic
-Febrile seizures
-Hypoglycemia
-Hypocalcemia, hypomagnesemia
-Hypo/hypernatremia
-Head trauma
-Meningoencephalitis
-Toxins
44
Q

What is epilepsy?

A 
Chronic neurological disorder
Recurrent unprovoked seizures
Semiology
Incidence 0.05%, prevalence 0.5%
1:200
(semiology, syndrome, aetiology)
EEG
AED mono therapy
Safety and school awareness
45
Q

What is status epileptics?

A

One seizure lasting 30 mins

Multiple seizures within 30 mins without recovery of consciousness

46
Q

What is the classification of epilepsy?

A

Generalized (absence, myoclonic, tonic, tonic-clonic, atonic)
-both hemispheres
Focal (Frontal , temporal, occipital, parietal)
-one hemisphere

47
Q

What is the most common epilepsy?

A

Temporal lobe epilepsy

sensory auras, automatisms, dejavu

48
Q

How to investigate epilepsy?

A

Hx (semiology)
Ex (neurocutaneous syndromes, injuries)
Ix (EEG for any unless Hx is strong, MRI/CT if focal, metabolic, genetic)

49
Q

What are the features of generalized epilepsies?

A

Always LOC
No warning
Symmetrical

50
Q

What are the principles of AED therapy?

A 
Treatment depends on disease, patient, drug factors
Match drug to epilepsy type
Monotherapy first
Minimum dose first then titrate
Manage side effects
Keep rescue therapy and drug card
Stop after 2 years of no seizures
51
Q

What are the common AED for epilepsy?

A

Valproate, lamotrigine for all generalized and focal
Carbamzepine for GTCS but not for absence, myoclonic
Ethosuximide for absence

52
Q

What are the side effects of AED?

A

Valproate - Weight gain, hair loss, liver failure

Carbamazepine - SJS, neutropenia, autoinducer

53
Q

What are the features of different epilepsies?

A

Absence (transient LOC, abrupt onset and termination, precipitated by hyperventilation)
Myoclonic (brief repetitive jerky movements)
Atonic (sudden falls)
Tonic-clonic (increased tone then rhythmical contraction)

54
Q

What are the epilepsy syndromes?

A 
West syndrome
Lennox Gastaut syndrome
Childhood absence epilepsy
Benign epilepsy with centri-temporal spikes
Juvenile myoclonic epilepsy
55
Q

What are the features of BECTS? Rolandic

A

4-10 years
GTCS in sleep
Simple focal in face and tongue
Remit in adolescence

56
Q

What are the features of childhood absence epilepsy?

A 
4-12 years
Abrupt staring and non responsiveness
Abrupt termination without memory
Last only a few seconds (less than 30 secs)
Normal development
2/3 female
Induced by hyperventilation
3 hertz spike and wave EEG
95% remission in adolescence
57
Q

What are the features of West syndrome?

A 
4-6 months
Salaam spasms of head trunk and limb flexors
Multiple bursts lasting few seconds often on waking
Many times a day
Social regression
2/3 have underlying cause
EEG hypsarrhytmia
Rx Vigabatrin, Corticosteroids
40% respond

Paediatrics (12 decks)

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