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Y5 Paediatrics > Neurology > Flashcards

Neurology Flashcards

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1
Q

What is hypsarrythmia?

A

Abnormal interictal EEG characterising epileptic encephalopathies in infancy

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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

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3
Q

What is Dravet syndrome?

A

Severe infantile myoclonic epilepsy

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4
Q

What age does Dravet syndrome mostly affect?

A

Onset within 1st year, peak around 5 months

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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

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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

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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

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8
Q

What is Landau-Kleffner syndrome?

A

Acquired epileptic aphasia

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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

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10
Q

What is Lennox-Gastaut syndrome?

A

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

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11
Q

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

A

Lennox-Gastaut syndrome

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12
Q

What is West syndrome?

A

Infantile spasms

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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

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14
Q

What syndrome is a common underlying cause of West syndrome?

A

Tuberous sclerosis

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15
Q

What sequelae may follow West syndrome?

A

Intractable epilepsy, permanent motor disability or neurocognitive impairment

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16
Q

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

A

Landau-Kleffner syndrome

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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

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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

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19
Q

What may Ohtahara syndrome develop into?

A

West syndrome - infantile spasms

Or Lennox Gastaut syndrome

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20
Q

What syndrome is characterised by neonatal tonic seizures?

A

Ohtahara syndrome

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21
Q

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

A

Vigabatrin

ACTH treatment

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22
Q

Seizures often seen in Lennox Gastaut syndrome?

A

Tonic and atonic seizures

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23
Q

What is Doose syndrome?

A

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

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24
Q

What is Panayiotopolous syndrome?

A

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

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25
What are gelastic seizures associated with?
Hypothalamic hamartomatous epilepsy + central precocious puberty
26
What is an X-linked cause of screaming seizures?
PCDH19 epilepsy
27
What is the age range for febrile convulsions?
Age 6m-5yrs
28
4 conditions that make febrile seizures complex vs simple?
More than 15 minutes duration More than 1 in same illness More than 1 in 24 hours Focal seizure
29
What investigations might be useful in febrile convulsions?
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
Minimum temp for febrile convulsions?
37.8
31
What are the genes sometimes associated with febrile convulsions and what do they code for generally?
FEB genes - 3A, 3B, 4 and 8 | Ion channels
32
What is the most important differential for a febrile convulsion?
Meningoencephalitis
33
What is febrile status?
Seizures lasting 30 minutes or more, or repeated seizures for at least 30 mins with no recovery in between
34
What action can you take after 5 min of febrile convulsion?
``` 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
What are the next steps in seizure management after 2 doses of benzodiazepine?
IV phenytoin load (18mg/kg at less than 1mg/kg/min) | Or IV phenobarbital (same dose) if already on phenytoin
36
Management for seizures lasting longer than 45 mins, after benzos and phenytoin?
Consider ITU with airway control Meds e.g. Midazolam, thiopentone EEG monitoring
37
What is the immediate risk to child after seizure has ended?
Respiratory arrest
38
What is the lifetime risk of seizure recurrence after a febrile seizure?
35% total; 25% during next 12 months
39
What is the initial drug management of neonatal seizures? 2 other options?
Phenobarbital 20mg/kg IV, continue on 5mg/kg once daily for at least 2 weeks Other options include pyridoxal phosphate, clonazepam
40
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?
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
What benign seizure type may occur during febrile illness that isn't tonic clonic seizures but may progress to this?
Benign febrile myoclonic seizures
42
What illness can cause afebrile convulsions?
Gastroenteritis
43
What is posterior reversible encephalopathy syndrome?
PRES - Often related to severe hypertension above autoregulation threshold (150-160mmHg CPP) that causes hyperperfusion of posterior circulation and cerebral oedema without infarct
44
What are the 9 main types of muscular dystrophy?
``` Becker Congenital Duchenne Distal muscular dystrophy Emery-Dreifuss muscular dystrophy Facioscapulohumeral Limb girdle Myotonic dystrophy Oculopharyngeal ```
45
How are DMD and BMD inherited and what causes them genetically and pathophysiologically?
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
Where is the DMD dystrophin gene found?
Xp21
47
How many boys does DMD affect at birth?
1/5000
48
What percentage of all muscular dystrophies is Duchenne?
50%
49
What is the most common childhood muscular dystrophy?
Duchenne
50
When does DMD tend to present?
Around walking age
51
What is the general progression of DMD?
Presents around walking age Need walking support about age 10 Often can't walk age 12 Lifespan 20-45 typically
52
What gene causes distal muscular dystrophy?
DYSF gene
53
When does distal muscular dystrophy tend to progress?
Adulthood - 20-60
54
What gene mutation usually causes Emery Dreifuss muscular dystrophy? Rarer cause?
EMD gene | Rarely LMNA gene
55
How and when does Emery-Dreifuss muscular dystrophy present?
Typically childhood-early teens with contracture and distal to proximally progressive muscle weakness and wastage Plus heart defects and arrythmias
56
How are the 3 subtypes of Emery-Dreifuss muscular dystrophy distinguished?
By inheritance pattern - AR, AD and XL
57
Which muscular dystrophy has a unifying theory of pathogenesis and briefly what is this?
Facioscapulohumeral muscular dystrophy | A truncated D4Z4 gene repeat plus toxic gain of function of DUX4 gene
58
How and when does facioscapulohumeral muscular dystrophy present?
Late teens to early adulthood with face, shoulder and upper arm weakness and wastage
59
What are 2 common extra muscular manifestations of facioscapulohumeral muscular dystrophy?
SN hearing loss | Retinal telangiectasia
60
How is facioscapulohumeral muscular dystrophy inherited?
AD
61
What muscular dystrophies typically present in paediatric populations?
``` Duchenne Congenital Emery-Dreifuss Facioscapulohumeral Recessive forms of limb girdle Congenital myotonic dystrophy ```
62
What muscular dystrophies present in adulthood?
``` Distal muscular dystrophy Facioscapulohumeral (early adulthood) Dominant limb girdle Myotonic dystrophy Oculopharyngeal muscular dystrophy ```
63
How does inheritance pattern affect the age of presentation of limb girdle muscular dystrophy?
Recessive presents earlier (childhood-teenage years) | Dominant often in adulthood
64
What is the gene mutation causing myotonic dystrophy type 1? What type is it and what inheritance pattern?
``` DMPK gene (myotonic dystrophy protein kinase gene) AD inherited triplet repeat expansion - CTG repeat ```
65
Which muscles are classically affected in myotonic dystrophy type 1?
Distal muscles initially e.g. Hands | Also face
66
What is myotonic dystrophy type 2? What causes it?
Milder form due to CNBP gene mutations | CCTG repeat expansion but doesn't anticipate
67
Where does myotonic dystrophy type 2 affect?
Limb girdles typically
68
How might congenital myotonic dystrophy present?
Hypotonia Club foot Developmental delay Respiratory problems
69
When does oculopharyngeal muscular dystrophy onset? Where does it affect?
Age 40 - 70ish | Affects eyes and face and throat initially then girdle muscles
70
Useful investigations for ?muscular dystrophy?
Muscle biopsy Creatine phosphokinase (CpK3) EMG Genetic tests for individual disorders

Y5 Paediatrics (13 decks)

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