Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Y5 Paediatrics > Neurology > Flashcards

Neurology Flashcards

1
Q

What is hypsarrythmia?

A

Abnormal interictal EEG characterising epileptic encephalopathies in infancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What EEG patterns characterise epileptic encephalopathies in neonatal, infant and childhood periods?

A

Neonatal - burst suppression
Infancy - hypsarrythmia
Childhood - slow generalised spike wave discharge

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is Dravet syndrome?

A

Severe infantile myoclonic epilepsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What age does Dravet syndrome mostly affect?

A

Onset within 1st year, peak around 5 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the 4 types of seizure which manifest in Dravet syndrome?

A

Early infantile febrile clonic convulsions
Myoclonic jerks
Atypical absences
Complex focal seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How does the semiology of Dravet syndrome progress?

A

Initially relatively mild febrile clonic convulsions
Then relentlessly progressive myoclonic jerks, atypical absences and complex focal seizures
Static period with residual neurocognitive disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is benign rolandic epilepsy? What is special about it?

A

Benign epilepsy with centro-temporal spikes, characterised by repeated focal facial/tongue twitches and seizures lasting less than 2 mins, often in boys 6-8 years
Associated with slow wave sleep status epilepticus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is Landau-Kleffner syndrome?

A

Acquired epileptic aphasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How does Landau-Kleffner syndrome present?

A

Linguistic abnormalities and seizures in 3-6 year olds
Verbal auditory agnosia which may progress to total receptive aphasia in a stepwise fashion
Plus or minus GTC, focal motor, atypical absences and atonic seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is Lennox-Gastaut syndrome?

A

Clusters of multiform seizures and mental retardation, often preceded by motor/cognitive/behavioural abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Which epileptic encephalopathy often features a neurodevelopmental prodromal decline before onset age 3-5 years?

A

Lennox-Gastaut syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is West syndrome?

A

Infantile spasms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How does West syndrome present?

A

Infantile spasms in clusters of 20-100 spasms, 1-30 clusters per day
Hypsarrythmia
Often pre-existing developmental delay. Onset 3-7 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What syndrome is a common underlying cause of West syndrome?

A

Tuberous sclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What sequelae may follow West syndrome?

A

Intractable epilepsy, permanent motor disability or neurocognitive impairment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Which epileptic encephalopathy is characterised by receptive language decline in 3-6 year olds +/- other seizures?

A

Landau-Kleffner syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Which epileptic encephalopathy is characterised by early infantile febrile clonic convulsions followed by myoclonus, atypical absences and complex focal seizures?

A

Dravet syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is Ohtahara syndrome?

A

Epileptic encephalopathy seen in neonates/infants - tonic seizures occurring in utero, within first 10 days of life and usually diagnosed before 3 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What may Ohtahara syndrome develop into?

A

West syndrome - infantile spasms

Or Lennox Gastaut syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What syndrome is characterised by neonatal tonic seizures?

A

Ohtahara syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What 2 medications may be useful in Ohtahara and West syndrome?

A

Vigabatrin

ACTH treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Seizures often seen in Lennox Gastaut syndrome?

A

Tonic and atonic seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is Doose syndrome?

A

Epileptic syndrome characterised by myoclonic-atonic seizures and myoclonic-astatic epilepsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is Panayiotopolous syndrome?

A

Early onset occipital epilepsy, characterised by pale, vomiting and sideways eye deviation seizures often at night

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are gelastic seizures associated with?

A

Hypothalamic hamartomatous epilepsy + central precocious puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is an X-linked cause of screaming seizures?

A

PCDH19 epilepsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is the age range for febrile convulsions?

A

Age 6m-5yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

4 conditions that make febrile seizures complex vs simple?

A

More than 15 minutes duration
More than 1 in same illness
More than 1 in 24 hours
Focal seizure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What investigations might be useful in febrile convulsions?

A

If history and exam reassuring, often none
Consider searching for source of infection; if septic, do septic screen
Rarely need EEG or brain imaging

30
Q

Minimum temp for febrile convulsions?

A

37.8

31
Q

What are the genes sometimes associated with febrile convulsions and what do they code for generally?

A

FEB genes - 3A, 3B, 4 and 8

Ion channels

32
Q

What is the most important differential for a febrile convulsion?

A

Meningoencephalitis

33
Q

What is febrile status?

A

Seizures lasting 30 minutes or more, or repeated seizures for at least 30 mins with no recovery in between

34
Q

What action can you take after 5 min of febrile convulsion?

A 
PR diazepam (0.5mg/kg up to 10mg) or buccal midazolam 
Or IV lorazepam (50-100 micrograms/kg up to 4mg) if in hosp
35
Q

What are the next steps in seizure management after 2 doses of benzodiazepine?

A

IV phenytoin load (18mg/kg at less than 1mg/kg/min)

Or IV phenobarbital (same dose) if already on phenytoin

36
Q

Management for seizures lasting longer than 45 mins, after benzos and phenytoin?

A

Consider ITU with airway control
Meds e.g. Midazolam, thiopentone
EEG monitoring

37
Q

What is the immediate risk to child after seizure has ended?

A

Respiratory arrest

38
Q

What is the lifetime risk of seizure recurrence after a febrile seizure?

A

35% total; 25% during next 12 months

39
Q

What is the initial drug management of neonatal seizures? 2 other options?

A

Phenobarbital 20mg/kg IV, continue on 5mg/kg once daily for at least 2 weeks
Other options include pyridoxal phosphate, clonazepam

40
Q

What is the risk of a child having another febrile seizure within next 2 years after 1st one? 4 things that makes this more likely?

A

40%
More likely if over 18 months, first degree FH, short time between fever onset and seizure or low degree of fever pre-seizure

41
Q

What benign seizure type may occur during febrile illness that isn’t tonic clonic seizures but may progress to this?

A

Benign febrile myoclonic seizures

42
Q

What illness can cause afebrile convulsions?

A

Gastroenteritis

43
Q

What is posterior reversible encephalopathy syndrome?

A

PRES - Often related to severe hypertension above autoregulation threshold (150-160mmHg CPP) that causes hyperperfusion of posterior circulation and cerebral oedema without infarct

44
Q

What are the 9 main types of muscular dystrophy?

A 
Becker 
Congenital
Duchenne
Distal muscular dystrophy 
Emery-Dreifuss muscular dystrophy
Facioscapulohumeral
Limb girdle
Myotonic dystrophy
Oculopharyngeal
45
Q

How are DMD and BMD inherited and what causes them genetically and pathophysiologically?

A

XL inheritance of mutations in dystrophin DMD gene
Causing dysfunctional dystrophin-glycoprotein complex which anchors cytoskeleton of muscle cells through sarcolemma to extracellular matrix
So when muscles contract causes breakdown of sarcolemma, weakness and muscle wastage

46
Q

Where is the DMD dystrophin gene found?

A

Xp21

47
Q

How many boys does DMD affect at birth?

A

1/5000

48
Q

What percentage of all muscular dystrophies is Duchenne?

A

50%

49
Q

What is the most common childhood muscular dystrophy?

A

Duchenne

50
Q

When does DMD tend to present?

A

Around walking age

51
Q

What is the general progression of DMD?

A

Presents around walking age
Need walking support about age 10
Often can’t walk age 12
Lifespan 20-45 typically

52
Q

What gene causes distal muscular dystrophy?

A

DYSF gene

53
Q

When does distal muscular dystrophy tend to progress?

A

Adulthood - 20-60

54
Q

What gene mutation usually causes Emery Dreifuss muscular dystrophy? Rarer cause?

A

EMD gene

Rarely LMNA gene

55
Q

How and when does Emery-Dreifuss muscular dystrophy present?

A

Typically childhood-early teens with contracture and distal to proximally progressive muscle weakness and wastage
Plus heart defects and arrythmias

56
Q

How are the 3 subtypes of Emery-Dreifuss muscular dystrophy distinguished?

A

By inheritance pattern - AR, AD and XL

57
Q

Which muscular dystrophy has a unifying theory of pathogenesis and briefly what is this?

A

Facioscapulohumeral muscular dystrophy

A truncated D4Z4 gene repeat plus toxic gain of function of DUX4 gene

58
Q

How and when does facioscapulohumeral muscular dystrophy present?

A

Late teens to early adulthood with face, shoulder and upper arm weakness and wastage

59
Q

What are 2 common extra muscular manifestations of facioscapulohumeral muscular dystrophy?

A

SN hearing loss

Retinal telangiectasia

60
Q

How is facioscapulohumeral muscular dystrophy inherited?

A

AD

61
Q

What muscular dystrophies typically present in paediatric populations?

A 
Duchenne
Congenital
Emery-Dreifuss
Facioscapulohumeral 
Recessive forms of limb girdle
Congenital myotonic dystrophy
62
Q

What muscular dystrophies present in adulthood?

A 
Distal muscular dystrophy 
Facioscapulohumeral (early adulthood)
Dominant limb girdle
Myotonic dystrophy 
Oculopharyngeal muscular dystrophy
63
Q

How does inheritance pattern affect the age of presentation of limb girdle muscular dystrophy?

A

Recessive presents earlier (childhood-teenage years)

Dominant often in adulthood

64
Q

What is the gene mutation causing myotonic dystrophy type 1? What type is it and what inheritance pattern?

A 
DMPK gene (myotonic dystrophy protein kinase gene)
AD inherited triplet repeat expansion - CTG repeat
65
Q

Which muscles are classically affected in myotonic dystrophy type 1?

A

Distal muscles initially e.g. Hands

Also face

66
Q

What is myotonic dystrophy type 2? What causes it?

A

Milder form due to CNBP gene mutations

CCTG repeat expansion but doesn’t anticipate

67
Q

Where does myotonic dystrophy type 2 affect?

A

Limb girdles typically

68
Q

How might congenital myotonic dystrophy present?

A

Hypotonia
Club foot
Developmental delay
Respiratory problems

69
Q

When does oculopharyngeal muscular dystrophy onset? Where does it affect?

A

Age 40 - 70ish

Affects eyes and face and throat initially then girdle muscles

70
Q

Useful investigations for ?muscular dystrophy?

A

Muscle biopsy
Creatine phosphokinase (CpK3)
EMG
Genetic tests for individual disorders

Y5 Paediatrics (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions