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MRCPCH Part 2 > Neurology > Flashcards

Neurology Flashcards

(76 cards)

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1
Q

Presentation of dystrophic myotonia

A 
Mild weakness in the first few years
Progressive wasting of distal muscles
Cataracts
Learning difficulties
Low IgG
Hypothyroidism
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2
Q

Diagnostic tests for dystrophic myotonica

A 
Immunoglobulins
DNA studies
Blood glucose
EMG
TFTs
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3
Q

Features of cingulate herniation (subfalcine - foramen magnum)

A

Usually asymptomatic
Diplegia
Hemiplegia
Visual symptoms

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4
Q

Features of central herniation (tentorial)

A 
Sunsetting sign (upward gaze palsy, dilated pupils)
VI nerve palsy
Decerebrate rigidity
Irregular respiration
Hypertension
Seizures
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5
Q

Features of uncal herniation

A 
Unilateral fixed dilated pupils
III nerve palsy
Contralateral hemiplegia
Extensor plantars
Then ipsilateral hemiplegia
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6
Q

Features of tonsillar herniation

A 
Bulbar palsy
Stridor
Hypotension
Hyperthermia
Neck stiffness
Cardiorespiratory arrest
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7
Q

Causes of hypsarrhythmia on EEG

A

Tuberous sclerosis
Idiopathic
Head injury

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8
Q

EEG pattern associated with infantile spasms

A

Hypsarrhythmia

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9
Q

EEG pattern in absence seizures

A

Spike-wave complexes at a rate of 3 per second

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10
Q

EEG pattern in benign rolandic epilepsy

A

High aptitude spikes in the Centro-temporal region

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11
Q

EEG pattern in herpes simplex encephalitis

A

Periodic complexes clustered in the temporal region OR

Fronto temporal slowing with periodic sharp wave complexes

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12
Q

EEG pattern in tuberous sclerosis

A

High amplitude slow waves and multifocal spikes in a chaotic pattern (hypsarrhythmia)

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13
Q

EEG pattern in space occupying lesion

A

High amplitude slow wave activity seen in a localised region

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14
Q

Structures involved in Erbs palsy

A

Deltoid
Extensor carpi radialis longus
Absent biceps jerk

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15
Q

Features of Landau-Kleffner

A

Infrequent seizures
Acquired receptive aphasia
Behavioural disturbance with hyperactivity

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16
Q

Features of NF1

A 
Cafe au lait patches
Axillary/inguinal freckling
Neurofibromas
Optic glioma
≥2 lisch nodules
Fibroid dysplasia of bone
Macrocephaly (not diagnostic)
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17
Q

Features of Fabry’s disease

A

Cataracts
Early MIs/strokes/renal impairment
Capillary haemangiomas
Burning sensation in hands and feet

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18
Q

Antiepileptic which causes permanent visual field loss in up to 30% patients

A

Vigabatrin

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19
Q

Antiepileptic which causes liver failure

A

Sodium valproate

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20
Q

Antiepileptic which causes dizziness, headache, tremor, gum hypertrophy, coarse face, hirsutism

A

Phenytoin

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21
Q

Antiepileptic which causes nausea, agitation, tremor, increased appetite, weight gain, hair loss

A

Sodium valproate

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22
Q

Features of mumps meningoencephalitis

A

Lymphadenopathy and parotid swelling
Meningitic features with confusion 7-10 days later
Aseptic meningitis on LP

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23
Q

What is Riley Day syndrome also known as?

A

Familial dysautonomia

Hereditary sensory autonomic neuropathy type 3

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24
Q

Diagnostic test for Tay-Sachs

A

Hexoseaminidase levels

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25
Symptoms of Arnold-Chiari malformation
Nerve palsies Atypical facial pain Respiratory depression Symptoms due to long spinal tracts being compressed
26
Best medications for juvenile myoclonic epilepsy?
Sodium valproate | Levetiracetam
27
Diagnostic testing for SMA type 1?
Survival motor neurone genotype (molecular genetic testing)
28
Factors increasing risk of seizures on discontinuation of antiepileptics
Older age Use of multiple anticonvulsants Myoclonic or tonic clonic seizures Previous abnormal imaging or EEG
29
Tumours associated with neurofibromatosis type 1?
``` Astrocytomas Wilms tumour Phaeochromocytoma Neuroblastoma Meningioma Medulloblastoma ```
30
Features of Landau-Kleffner syndrome
Seizures in approx 70% Receptive or expressive aphasia Bitemporal abnormalities on EEG
31
Features of Friedreich's ataxia
``` Ataxia Posterior column spinal cord dysfunction Loss of deep tendon reflexes Motor weakness in lower limbs Dysarthria Pes cavus Reduced visual acuity Cardiac abnormalities ```
32
Adjunctive treatments for tonic clonic seizures if valproate/lamotrigine ineffective
``` Clobazam Lamotrigine Levetiraetam Sodium valproate Topiramate ```
33
Features of metachromatic leucodystrophy
``` Lysosomal storage disease Gross motor skill regression Abnormal gait Loss of deep tendon reflexes Behavioural difficulties +/- seizures ```
34
Antiepileptic causing hyponatraemia in overdose
Carbamazepine
35
Antiepileptic causing rectal irritation
Paraldehyde
36
Anti epileptic causing rickets
Phenytoin
37
Complications of topiramate
Renal stones Sedation Anorexias Paraesthesia
38
Features of neuronal ceroid lipofuscinosis
Dementia | Visual difficulties
39
First line tests for NCL
``` MRI LP VEP ERG Rectal biopsy - characteristic cytoplasmic inclusions Skin biopsy - curvilinear bodies ```
40
Features of internal capsule lesion
Contralateral hemiplegia Sensory loss UMN cranial nerve deficit in the side opposite the lesion
41
Features of temporal lobe lesion
Memory problems | Isolated motor/sensory deficit
42
Features of parietal lobe lesions
Speech difficulty | Unilateral limb sensory/motor loss
43
Features of pons lesions
LMN ipsilateral cranial nerve deficits | Contralateral limb hemiplegia and loss of sensation
44
Features of lesions in the medulla
LMN cranial nerve deficits on the same side of the lesion | Motor deficit in the contralateral limb
45
Tests if suspecting Friedreich's ataxia
Brainstem and somatosensory evoked potential Echo Genetic testing
46
Congenital infection causing IUGR, hepatosplenomegaly, jaundice and diffuse intracranial calcification
Toxoplasmosis
47
Congenital infection causing IUGR, hepatosplenomegaly, jaundice, purpuric rash, periventricular calcification
CMV
48
Features of Menke's disease
``` Hypotonia, hypothermia Myoclonic seizures Chubby, rosy cheeks Kinky, colourless, friable hair Severe mental retardation Optic atrophy Low serum copper and ceruloplasmin ```
49
Features of Moebius syndrome
``` Congenital facial and abducens nerve palsy Ectropion Epiphora Exposure keratopathy Abduction weakness Difficulty chewing, swallowing, coughing Micrognathia ```
50
First line treatment for absence seizures
Ethosuximide
51
First line treatment for myoclonic epilepsy
Sodium valproate Levetiracetam Topiramate
52
Useful adjunct in cluster epilepsy
Clobazam
53
First line treatment for complex partial seizures
Carbamazepine
54
Features of benign rolandic epilepsy
2-12 years Focal seizures occurring in clusters and during sleep Unilateral facial sensorimotor symptoms common
55
Drugs causing peripheral neuropathy
``` Phenytoin Nitrofurantoin Ethambutol Azidothymidine (AZT) Metronidazole Isoniazid Amiodarone Vincristine Vinblastin Cysplatin ```
56
Blood tests for a child with chorea
Thyroid function tests Caeruloplasmin levels Antinuclear antibodies
57
Causes of pes cavus
``` Friedreich's ataxia Tethered spinal cord Spina bifida Duchenne Charcot Marie Tooth ``` Most things that cause distal lower limb weakness
58
Features of Smith-Lemli-Opitz
``` Low set ears Broad, upturned nose Micrognathia Syndactyly of toes Hypospadias Initial hypotonia, later hypertonia Cryptorchidism CVS/renal/GI abnormalities ```
59
Features of Cornelia de Lange
``` Learning difficulties Poor growth Confluent, bushy eyebrows Low hairline Micrognathia Small hands and feet Thin lips Anteverted nose Down turned mouth ASD/VSD ```
60
Congenital infection causing chorioretinitis, thrombocytopenia and blueberry muffin purport, cardiac lesions, deafness, bony involvement, hepatosplenomegaly, jaundice
Rubella
61
Conditions causing fasciculations
Werdnig-Hoffman Polio Syringomyelia Cervical spondylosis
62
Treatment for Guillain-Barre
Physio Plasmapheresis IVIG
63
Scoring of eye opening in GCS
4 - spontaneous 3 - to verbal command 2 - to painful stimuli 1 - no eye opening
64
Scoring of verbal in GCS
Adult/older child ``` 5 - oriented 4 - confused conversation 3 - inappropriate words 2 - incomprehensible sounds 1 - none ```
65
Scoring of grimace in GCS
Young child ``` 5 - spontaneous/normal activity 4 - Less than usual spontaneous, only responsive to touch 3 - vigorous grimace to pain 2 - mild grimace to pain 1 - no response to pain ```
66
Motor scoring in GCS
``` 6 - obeys commands 5 - localises pain 4 - normal flexion to pain 3 - abnormal flexion to pain (decorticate) 2 - extension to pain (decerebrate) 1 - no response ```
67
Level of lesion causing absent hip flexion
L1-2
68
Features of Leigh's disease
``` Swallowing problems Vomiting Failure to thrive Delayed motor milestones Generalised seizures Weakness Sighing or sobbing breathing Visual abnormalities Elevated serum lactate ```
69
Features of glutamic acidaemia
Develop normally for first 2 years | Then suddenly develop extra-pyramidal signs during a mild illness
70
Features of Kearns-Sayre syndrome
Involves muscles controlling eyelid movement and extra ocular muscles Bilateral pigmentary retinopathy Cardiac abnormalities ``` Also: Cerebellar ataxia Proximal muscle weakness Deafness Diabetes GH deficiency HypoPTH other endocrine issues ```
71
Features of dopa-responsive dystonia
Age 7ish Cramps after exercise Then develop parkinsonism Symptoms better in the morning and worsen with exertion
72
Features of NCL
``` Progressive visual loss Dementia Motor decline Therapy resistant epilepsy Ultimate death ```
73
Best choice for generalised seizures in teenage girls
Lamotrigine
74
EEG pattern in Friedreich's ataxia
Low amplitude compound muscle action potentials, or absent sensory nerve action potentials
75
Treatment for infantile spasms
Vigabatrin
76
Skin feature in Fabry's disease
Angiokeratoma

MRCPCH Part 2 (24 decks)

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