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Neurology Flashcards

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1
Q

What is cerebral palsy?

A

A static encephalopathy

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2
Q

How often is intrapartum hypoxia the cause of CP?

A

10% of cases

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3
Q

What are the types of CP in order of commonness?

A

Spastic (90%)
Dyskinetic (6%)
Ataxic (4%)

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4
Q

How common is cerebral palsy?

A

2 in 1000

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5
Q

What kind of lesion causes spastic CP?

A

UMN - usually periventricular leukomalacia

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6
Q

What are the clinical features of spastic CP?

A

Velocity dependent spasticity
Brisk deep tendon reflexes
Extensor plantar responses

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7
Q

What are the three subtypes of spastic CP?

A

Hemiplegia
Quadriplegia
Diplegia

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8
Q

What are the clinical features of dyskinetic CP?

A

Involuntary movements
Chorea
Athetosis
Dystonia

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9
Q

What is athetosis?

A

Slow, writing movements

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10
Q

What kind of lesion causes dyskinetic CP?

A

Mostly HIE

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11
Q

What lesions can cause ataxic CP?

A

Mostly genetic

If brain injury, signs are on the same side as the lesion

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12
Q

What are the clinical features in ataxic CP?

A

Early trunk and limb hypotonia
Poor balance
Later incoordinate movements, intention tremor and ataxic gait

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13
Q

How is cerebral palsy diagnosed?

A

Clinical
MRI
EEG if seizures

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14
Q

Which conditions are associated with CP?

A 
Intellectual impairment (50%)
Epilepsy (45%)
Speech and language disorders
Ophthalmological defects
Hearing impairment
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15
Q

How is CP managed?

A

Gabapentin
Botox for hypertonicity
Intrathecal baclofen
Selective dorsal rhizotomy

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16
Q

What is baclofen?

A

GABA analogue

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17
Q

What features do frontal seizures have?

A

Clonic movements
Asymmetrical tonic seizures
Atonic

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18
Q

What features can temporal lobe seizures have?

A 
Strange warning feelings or aura
Lip smacking
Plucking at a clothing
Walking in a non-purposeful manner
Deja vu and jamais vu
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19
Q

What features might an occipital lobe seizure have?

A

Distortion of vision

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20
Q

What features can a parietal lobe seizure have?

A

Contralateral dysaesthesias

Distorted body image

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21
Q

When does West syndrome usually present?

A

4-6 months

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22
Q

What do the seizures in West syndrome look like?

A

Infantile spasms - violent flexing of the head, trunk and limbs followed by extension of the arms

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23
Q

Which skills will be affected in West syndrome?

A

Often social first, but most will lose other skills too

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24
Q

How many children with West syndrome have an underlying neurological cause?

A

2/3

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25
What does the EEG show in West syndrome?
Hypsarrhythmia - high voltage slow waves and multifocal sharp wave discharges
26
How is West syndrome treated?
Steroids, vigabatrin, sometimes ACTH
27
How many respond to treatment in West syndrome?
30-40%
28
What is the prognosis for West syndrome?
Most will develop a learning disability or epilepsy
29
When does Lennox-Gastaut syndrome usually present?
1-3 years
30
What kind of seizures are seen in Lennox-Gastaut syndrome?
Drop attacks Tonic seizures Atypical absences
31
How is development affected in Lennox-Gastaut syndrome?
Neurodevelopmental arrest or regression | Behavioural disorder
32
What is the prognosis like in Lennox-Gastaut syndrome?
Poor - many relate to a pre existing or other complex neurological disorder
33
When does childhood absence epilepsy usually present?
4-12 years
34
How is development affected in childhood absence epilepsy?
Usually not affected, but can interfere with schooling
35
Does childhood absence epilepsy affect more girls or boys?
2/3 are female
36
How can seizures be induced in childhood absence epilepsy?
Hyperventilation
37
What does the EEG show in childhood absence epilepsy?
Generalised 3Hz spike and wave discharge, bilaterally synchronous during and sometimes between episdoes
38
What's the prognosis for childhood absence epilepsy?
Good
39
What drugs can be used in childhood absence epilepsy?
Sodium valproate Ethosuximide Lamotrigine
40
What does BECTS stand for?
Benign epilepsy with centrotemporal spikes
41
When does BECTS usually present?
4-10 years
42
What kind of seizures are seen in BECTS?
Tonic clonic seizures in sleep Simple focal seizures with awareness of abnormal feelings in the tongue and distortion of the face May involve the vocal tract with guttural sounds, hemifacial sensorimotor symptoms, hypersalivation and speech arrest
43
What does the EEG show in BECTS?
Focal sharp waves from the Rolandic or centrotemporal area
44
What is the management for BECTS?
Might not even need treatment - almost all remit in adolescence
45
What is early onset benign childhood occipital epilepsy also known as?
Panayiotopoulous syndrome
46
When does Panayiotopoulous syndrome present?
1-14 years
47
How does Panayiotopoulous syndrome present in younger children?
Periods of unresponsiveness, eye deviation, vomiting and autonomic features
48
How does Panayiotopoulous syndrome present in older children?
Headache and visual disturbance, distortion of images, hallucinations; can have syncope-like unresponsiveness and behaviour change
49
What might the seizures in Panayiotopoulous syndrome lead to?
Autonomic status | Hemiconvulsions or generalised convulsions
50
What does the EEG show in Panayiotopoulous syndrome?
Interictal EEG shows multifocal, high amplitude, sharp and slow-wave complexes
51
What is the prognosis in Panayiotopoulous syndrome?
Remits in childhood with AEDs rarely needed
52
When does juvenile myoclonic epilepsy present?
Adolescence-adulthood
53
What kind of seizures are seen in juvenile myoclonic epilepsy
Myoclonic | But GTCs and absences can occur, mostly shortly after waking
54
What does the EEG show in juvenile myoclonic epilepsy?
3-6Hz generalised polyspike and wave discharge
55
What's the prognosis in juvenile myoclonic epilepsy?
Remission unlikely, but tends to respond to treatment
56
What drugs can be used in juvenile myoclonic epilepsy?
Sodium valproate Benzodiazepines Lamotrigine
57
Which drug can worsen seizures in juvenile myoclonic epilepsy?
Carbamazepine
58
What are 2 common mutations causing neonatal seizures?
ERBBB4, SCN1A
59
When do genetically caused neonatal seizures tend to present?
Before day 10
60
What is the clinical triad for genetic neonatal seizures?
Myoclonius Then focal fits Then tonic infantile spasms
61
What's the prognosis for neonatal genetic seizures?
Very poor - devastating psychomotor and developmental regression, bilateral pyramidal signs
62
Wat is Ohtahara syndrome?
A syndrome causing seizures in the neonatal period with many causes; age-dependent reaction to an insult that can progress to West syndrome or Lennox-Gastaut
63
Which cerebral malformations can cause Ohtahara syndrome?
``` Aicardi Linear sebaceous naevus syndrome Porencephaly Hemimegaloencephaly Focal cortical dysplasia Cerebral dysgenesis ```
64
What are the two main genetic causes of Ohtahara syndrome?
GLUT1 deficiency syndrome | MECP2 mutation
65
What are the clinical features of Ohtahara syndrome?
Tonic spasms lasting 1-10 seconds, often in clusters up to 100 times per day
66
What does the EEG show in Ohtahara syndrome?
Burst suppression
67
What ist he prognosis for Ohtahara syndrome?
50% mortality in weeks or months; survivors have severe cognitive/neurological deficits
68
How can Ohtahara syndrome be treated?
No AED consistently effective - can also try vitamins or surgery
69
How are benign familial seizures inherited?
Autosomal recessive
70
When is the onset of benign familial seizures?
Day 4-7
71
What are the clinical features of benign familial seizures?
Brief seizures | Can involve apnoea, deviation of head/eyes, tonic-clonic, autonomic changes
72
What is the prognosis for benign familial seizures?
Tend to remit in days-months, normal intelligence long-term
73
How can benign familial seizures be treated?
Acute: phenobarbitone, benzodiazepines, phenytoin Preventative: keppra, valproate, carbamazepine
74
What are the commonest causes of early myoclonic encephalopathy?
``` Inborn errors of metabolism Non-ketotic hyperglycinaemia Menkes disease Zellweger syndrome Methylmalonic acidaemia ```
75
Which is an important treatable cause of early myoclonic encephalopathy?
Pyridoxine-dependent epilepsy, which will respond well to pyridoxine supplementation
76
When do malignant migrating partial seizures in infancy present?
3 months
77
What kind of seizures are seen in malignant migrating partial seizures in infancy?
Mutlifocal - tonic and/or clonic, can have autonomic features Frequent, almost continuous seizures
78
What other problems are malignant migrating partial seizures in infancy associated with?
Psychomotor regression | Quadriplegia
79
What is the prognosis in malignant migrating partial seizures in infancy?
Poor - most AEDs are ineffective and may die by 12 months
80
What is Fukuyama-Watanabe-Vigevano syndrome also called?
Benign familial infantile seizures and non-familial infantile seizures
81
What is the difference between the familial and non-familial form of Fukuyama-Watanabe-Vigevano syndrome?
Not much - other than that the non-familial forms' gene abnormalities occur de novo and familial cases may have longer fits with altered consciousness, motor arrest, clonic seizures, automatisms
82
When does Fukuyama-Watanabe-Vigevano syndrome present?
5 months
83
What kind of seizures are seen in Fukuyama-Watanabe-Vigevano syndrome?
Focal, brief diurnal seizures that occur in clusters of -10 daily for 1-3 days, then recur in 1-3 months
84
When does myoclonic epilepsy of infancy usually present?
6 months-3 years
85
What kind of seizures are seen in myoclonic epilepsy of infancy?
Myoclonic jerks which are spontaneous or reflex, usually with head nodding and upper limbs flinging outward. Brief duration often with intact consciousness
86
What can myoclonic epilepsy of infancy be treated with?
Valproate
87
What is the defect behind benign familial neonatal-infantile seizures?
Sodium channelopathy
88
When do benign familial neonatal-infantile seizures usually present?
2 days to 7 months
89
What kind of seizures are seen in benign familial neonatal-infantile seizures?
Focal
90
What is the prognosis for benign familial neonatal-infantile seizures?
Can resolve by 12 months
91
Which AEDs are used for myoclonic epilepsy in non progressive disorders e.g. Prader-Willi
Valproate Benzodiazepines Ethosuximide ACTH
92
What is Dravet syndrome also known as?
Severe myoclonic epilepsy of infancy
93
What mutation is Dravet commonly associated with?
SCN1A
94
When is the usual onset of Dravet syndrome?
6 months
95
What seizures are seen in Dravet syndrome?
``` Status Hemimotor status plus pallor, automatisms Clusters of absences Head turning and flexed upper limbs Myoclonic by 4 years Atonic seizures Non-convulsive status ```
96
What can be the precipitants for seizures in Dravet syndrome?
Visual induced Hyperthermia Water Carbamazepine
97
How does Dravet affect development?
Normal development initially followed by developmenta/neurocognitive regression, with evolving ataxia and pyramidal signs
98
Which AEDs can be used in Dravet?
``` Valproate Topiramate Clobazam Keppra Stiripentol Cannabidiol ```
99
What is Doose syndrome also known as?
Epilepsy with myoclonic-atonic seizures
100
How commonly is there a family history of seizures in Dose syndrome?
Family history of febrile seizures in 50%, epilepsy in 1/3
101
When is the usual onset of Doose syndrome?
6 months to 6 years
102
Is Doose syndrome more common in girls or boys?
Boys
103
Which kinds of seizures are seen in Doose syndrome?
Febrile and afebrile GTCs Months later, myoclonic-atonic seizures Can have pure atonic or absence, and non-convulsive status 1/3 have status at some point
104
What is Gastaut type epilepsy also known as?
Late-onset childhood occipital epilepsy
105
What is Gastaut type epilepsy?
A self-limiting childhood seizure susceptibility syndrome
106
What kind of family history is there in Gastaut type epilepsy?
Epilepsy or migraine
107
When is the usual onset of Gastaut epilepsy?
15 months to 19 years
108
What kind of seizures are seen in Gastaut type epilepsy?
Pure occipital seizures with visual hallucinations (e.g. confetti or sequins), blindness or a combination Short duration, frequent Preserved consciousness Can have other features e.g. head turning, blinking
109
What does the interictal EEG show in Gastaut type epilepsy?
Occipital paroxysms
110
What is the AED of choice in Gastaut type epilepsy?
Carbamazepine
111
What can develop if Gastaut type epilepsy isn't treated?
GTCs
112
How common is a family history in epilepsy with myoclonic absences?
1/5
113
When is the usual onset of epilepsy with myoclonic absences?
1-12 years
114
Does epilepsy with myoclonic absences affect more boys or girls?
Boys
115
What are the clinical features of epilepsy with myoclonic absences?
``` Rhythmic Myoclonic jerks with tonic contraction, usually unilateral Impairment of consciousness Short Frequent >75% will have another seizure type ```
116
What does the EEG show in epilepsy with myoclonic absences?
Generalised or multifocal spike and slow wave
117
How many children with epilepsy with myoclonic absences will have a learning disability?
70%
118
What's the prognosis like in epilepsy with myoclonic absences?
Often difficult to treat
119
What kind of seizures is carbamazepine useful for?
Partial seizures | GTCs
120
What are the side effects of carbamazepine?
``` Ataxia Sedation Leukopenia Thrombocytopenia Rash ```
121
Which seizures is sodium valproate useful for?
All
122
What are the side effects of sodium valproate?
``` Nausea and vomiting Abdo pain Tremor Hair loss Thrombocytopenia LFT abnormalities ```
123
Which seizures is lamotrigine useful for?
All
124
What are the side effects of lamotrigine?
Rash
125
What kinds of seizures is vigabatrin useful for?
Partial seizures | West syndrome
126
What are the side effects of vigabatrin?
Sedation | visual field constriction
127
What kind of seizures is ehtosuximide useful for?
Absences
128
What are the side effects of ethosuximide?
GI disturbance | Rash
129
Which kind of seizures is gabapentin useful?
Partial
130
What are the side effects of gabapentin?
Sedation
131
Which kind of seizures is oxcarbazpine useful for?
Partial/generalised
132
What are the side effects of oxcarbazepine?
Sedation | Rash
133
What kind of seizures is topiramate useful for?
All
134
What are the side effects of topiramate?
Sedation Anorexia Paraesthesiae
135
What kind of seizures are clobazam and clonazepam useful for?
All
136
What are the side effects of clobazam and clonazepam?
Sedation
137
What kind of seizures is phenytoin useful for?
All
138
What are the side effects of phenytoin?
Nausea and vomiting Diarrhoea Rash Peripheral neuropathy
139
What kind of seizures is phenobarbital useful for?
All
140
What are the side effects of phenobarbital?
Sedation
141
What kind of seizures is keppra useful for?
Partial
142
What are the Side effects of keppra?
Sedation
143
What kind of seizures is tiagabine useful for?
Partial
144
What are the side effects of tiagabine?
Sedation
145
What is the management of status?
2x benzos Rectal paraldehyde Phenytoin RSI
146
How many neural tube defects are preventable with maternal folate supplementation?
70%
147
What are some non-folate causes of neural tube defects?
``` High BMI Temperature elevation Diabetes Anti epileptics T13, 18 and 21 Waardenburg syndrome Joubert syndrome type 1 ```
148
What is the risk of recurrence for a mother who has had a child with a neural tube defect?
1 in 100-200; triple the baseline risk
149
What are the different kinds of neural tube defects?
``` Spina bifida occulta Anencephaly Encephalocoele Meningocoele Myelomeningocoele ```
150
What is the defect in spina bifida occulta?
Failure of closure of the vertebral arch
151
What is the defect in anencephaly?
Failure of closure of the rostral aspect of the neural tube
152
What is the prognosis in anencephalic pregnancies?
75% will be stillborn
153
What is the defect in an encephalocoele?
Protrusion of cerebral tissue through midline cranial defect located in frontal or occipital regions
154
What is the defect in meningocele?
Cyst formed by herniation of meninges, usually over dorsum of spine
155
What are the possible sequelae of a meningocoele
Neurological disability is minimal, but risk of bacterial meningitis
156
What is the defect in a myelomeningocoele?
Herniation of meninges, nerve roots, and spinal cord through the dorsal vertebral defect
157
What are the possible sequelae of a myelomeningocoele?
Motor and sensory defects below the lesion, including sphincter disturbance Hydrocephalus can occur
158
What particular malformation might be associated with a myelomeningocoele?
Arnold-Chiari
159
What are the options for bladder dysfunction from neural tube defects?
Anticholinergics Alpha adrenergics Intermittent catheterisation Botox
160
What are the features of the Arnold-Chiari II malformation?
Downward displacement of the cerebellar tonsils and vermis through the foramen magnum Elongation and kinking of the medulla Caudal displacement of the cervical spinal cord and medulla Obliteration of the cisterna magna
161
What are the possible consequences of an Arnold-Chiari II malformation?
Descent of hindbrain through foramen magnum - can cause compression of brainstem, cerebellar dysfunction, medullary respiratory centre dysfunction, malfunction of IX and X nerves, hydrocephalus
162
What are the clinical features of an Arnold-Chiari II malformation?
``` Swallowing problems GORD Dysarthria OSA Stridor Weakness or spasticity of upper limbs Clumsiness or poor coordination Many others! ```
163
How is the Arnold-Chiari II malformation managed?
Surgically: Decompression of the medulla and upper cervical cord Insertion of a dural patch to increase the size of the dural sac Cervical laminectomy
164
What is a syringomyelia?
Cavity which communicates with the central canal of the spinal cord
165
With is hydromyelia?
Dilatation of the central canal of the spinal cord
166
What malformation is associated with Syringohydromyelia?
ArnoldChiari II
167
What clinical features are associated with Syringohydromyelia?
Scoliosis Lower limb weakness and deformities Upper limb weakness Back pain
168
How can a syringohydromyelia be treated?
Shunt from syrinx to peritoneal cavity
169
What are the causes of scoliosis in myelomeningocele?
``` Congenital malformation Syringohydromyelia Tethered cord Shunt failure Spinal muscle weakness ```
170
How common is tethered cord in myelomeningocele?
Present in virtually all, but only causes problems requiring intervention in 1/3
171
What are the symptoms of tethered cord?
``` Often during growth spurts Gait changes (crouched) Back or lower limb pain Worsening of motor function Change in sensory level Change in bladder or bowel habit Progressive deformity of spine or lower limbs ```
172
How is spinal muscle atrophy inherited?
Autosomal recessive
173
What gene is responsible for spinal muscular atrophy?
5q11-13
174
What is the defect in spinal musuclar atrophy?
Degeneration of anterior horn cells due to mutation in the survival motor neurone gene
175
What is the general clinical picture in spinal muscular atrophy?
Progressive weakness and wasting of skeletal muscles
176
What is SMA Type 1 also known as?
Werdnig-Hoffman disease
177
When does SMA type 1 present?
Antenatally as diminished foetal movements, or in early infancy
178
What signs might be seen in spinal muscular atrophy?
``` Arthrogryposis Lack of antigravity power in hips Symmetrical weakness, proximally>distally, trunk and limbs Absent deep tendon reflexes Intercostal recession Fasciculation of the tongue Unable to sit or walk ```
179
What is the prognosis of SMA type I?
Bad - death is from respiratory failure at about 10 months
180
When is the usual onset of SMA type II?
After 3 months
181
What are the clinical features of SMA type II?
Can sit but not walk | Prone to early scoliosis
182
What is the prognosis of SMA type II?
Depends on degree of respiratory muscle involvement
183
What is SMA type III also known as?
Kugelberg-Welander disease
184
What are the features of SMA type III?
Can walk, but some proximal weakness | Tendon jerks may not be absent
185
What is Charcot-Marie-Tooth disease also known as?
Peroneal muscular atrophy
186
What are the clinical features of Charcot-Marie-Tooth?
Slowly progressive distal weakness with areflexia Foot drop often the main early problem In later stages (up to decades later): hand weakness, joint deformity, distal sensory loss
187
What are the differences between Freidreich's ataxia and HMSNs?
Areflexia in HMSN More clear ataxia in Freidreich's HMSN have abnormal motor conduction, whereas Freidreich's have sensory neuropathy
188
What are the three most common types of Charcot-Marie-Tooth?
1: demyelinating 2: axonal 3: hypertrophic And X-linked forms
189
What are the features of type 1 charcot-Marie-Tooth?
Low motor neurone conduction velocity | 1st decade onset
190
What are the features of type 2 Charcot-Marie-Tooth disease?
Normal motor neuron conduction velocity | 2nd to 3rd decades
191
What are the features of type 3 Charcot Marie Tooth?
Low motor neurone conduction velocity | 1st year onset
192
What is the most common disease of the NMJ?
Myasthenia gravis
193
What is the defect in myasthenia gravis?
Antibodies against postsynaptic acetylcholine receptors
194
What are the clinical features of myasthenia gravis?
Affects extra ocular muscles first, then proximal limbs and bulbar muscles Weakness which gets worse over the course of the day
195
How is Myasthenia Gravis diagnosed?
Edrophonium test EMG (confirms neuromuscular block) Anti-ACh receptor antibodies
196
How is Myasthenia Gravis treated?
Anticholinesterases Immunosuppressants Thymectomy Plasma exchange or IVIG
197
What is the cause of Sydenham chorea?
Immune reaction triggered by group A strep infection
198
What is the prognosis for Sydenham chorea?
75% have resolution of chorea within 6 months
199
What is the defect in anti-NMDA receptor encephalitis?
Antibodies to the NMDA receptor - usually after an intercurrent illness or mycoplasma infection
200
What are the clinical features of anti NMDA receptor encephalitis?
Movement disorder e.g. chorea, dystonia Autonomic instability Neuropsychiatric symptoms Seizures
201
How do you treat anti-NMDA receptor encephalitis?
``` Steroids Immunoglobulin Plasma exchange Cyclophosphamide Rituximab ```
202
What is subacute sclerosis panencephalitis?
Slow viral infection caused by atypical response to measles infection
203
What are the risk factors for subacute sclerosis pan encephalitis?
Exposure to measles in first 2 years | Natural measles infection vs immunisation
204
What are the clinical features of subacute sclerosing panencephalitis?
Subtle deficits first Increasing memory difficulties Worsening disabilities: seizures, motor difficulties, learning disability
205
What is the median interval between measles and subacute sclerosis panencephalitis?
8 years
206
What is the gene for neurofibromatosis type 1?
NF1 gene on 17q11.2
207
What does the NF1 gene code for?
Neurofibromin 1, a cytoplasmic protein found throughout the nervous system
208
What are the diagnostic criteria for NF1?
Need 2 or more: ≥6 cafe au last spots, >5mm in prepubertal patients or >15mm in post pubertal patients ≥2 neurofibromas or one plexiform neurofibroma Axillary or inguinal freckling Optic glioma ≥2 iris hamartomas (Lisch nodules) Typical osseous lesions e.g. sphenoid dysplasia 1st degree relative affected
209
What are the neurological manifestations of NF1?
Macrocephaly Learning disability Epilepsy Optic gliomas
210
What are the non-diagnostic features of NF1?
Scoliosis Hypertension Pulmonary stenosis Tumours: brainstem and cerebellar gliomas
211
Which gene codes for neurofibromatosis type 2?
NF2 gene on 22q11.2
212
What are the diagnostic criteria for neurofibromatosis type 2?
Bilateral 8th nerve neurofibromas Unilateral 8th nerve mass in association with any 2 of : meningioma, neurofibroma, schwannoma, juvenile posterior capsular cataracts Unilateral 8th nerve tumour or other spinal or brain tumour in 1st degree relative
213
How is tuberous sclerosis inherited?
Dominantly, with variable expression
214
Which mutations are responsible for tuberous sclerosis?
TSC1 (9p34) and TSC2 (16p), both of which are tumour suppressor genes
215
What are the clinical features of tuberous sclerosis?
``` Seizures Neurodevelopmental impairment Cutaneous manifestations Retinal hamartomas Renal angiolipomas Cardiac rhabdomyomas Brain: cortical tubers and subependymal nodules with calcifications ```
216
What are the cutaneous manifestations of tuberous sclerosis?
Adenoma sebaceum Periungual fibromas Hypopigmented patches Shagreen patch
217
What are the characteristic features of ataxia telangiectasia?
Conjunctival telangiectasia Progressive cerebellar degeneration Immunological impairment
218
Where is the gene for ataxia telangiectasia?
11q22-23
219
What are the clinical features of ataxia telangiectasia?
Progressive ataxia Scleral telangiectasia Abnormality of cell mediated and humeral immunity, causing sinopulmonary infections, high incidence of reticuloendothelial malignancy
220
How is ataxia telangiectasia diagnosed?
Elevated alpha fetoprotein Low IgA and IgD Inversions and translocations on chromosomes 7 and 14 Gene mutation analysis
221
What are the features of Sturge Weber syndrome?
Port wine stain in the distribution of the trigeminal nerve Facial naevus Ipsilateral leptomeningeal angioma, causing ischaemic injury to underlying cerebral cortex
222
What are the consequences of Sturge Weber syndrome?
Focal seizures Hemiparesis Variable degree of intellectual deficit Glaucoma (usually ipsilateral to the port wine stain)
223
How is incontinentia pigmenti inherited?
Probably X linked dominant; NEMO gene
224
What are the skin features of incontinentia pigmenti?
Erythematous papular, vesicular or bullous lesions on trunk and limbs Then pustular lesions Then pigmented
225
What are the non-skin features of incontinentia pigmenti?
30-50% have neurological features e.g. seizures, encephalopathy 30% have eye lesions
226
How is hypomelanosis of Ito inherited?
Sporadically
227
What are the features of hypomelanosis of Ito?
Hypopigmented areas that are streaky, patchy, or whorls Seizurs Hemimegalencephaly (one half of cerebral cortex larger than the other)
228
What is the defect in lishencephaly?
Brain has very few or no gyro, so the surface of the brain is smooth
229
What are the clinical features of lishencephaly?
Severe motor and learning disability
230
What are the associated mutations in lishencephaly?
65% associated with mutations in LIS1 gene | 17p13.3 deletion - Miller-Dieker syndrome (facial abnormalities)
231
What is the defect in polymicrogyria?
Increased numbers of small gyro, especially in the temporoparietal regions. Can be focal or generalised
232
What is the defect in periventricular heterotopia?
Aggregation of neurone arrested in their primitive positions
233
What is pachygyria and what are the consequences?
Thickened, abnormal cortex - depending on extent can cause cerebral-palsy like picture or epilepsy
234
Which brain malformation is associated with Aicardi syndrome?
Agenesis of corpus callosum
235
What are the features of Moebius syndrome?
Bilateral facial paralysis with bilateral abducens paralysis Other lower CNs can be affected 1/4 have learning disability
236
What are the features of Bell's palsy?
Unilateral facial paralysis
237
What's the cause of Bell's palsy?
Usually idiopathic
238
What is the management of Bell's palsy?
Usually recovers completely in 2-4 weeks, but steroids can be given
239
What are the clinical features of a 3rd nerve palsy?
Down and out position of the eye; can involve pupillary reaction if parasympathetic fibres are involved
240
What are the causes of a 3rd nerve palsy?
Closed head trauma, infection, tumour
241
What are the features of a 4th nerve palsy?
Superior oblique palsy, which pulls the eye downwards; vertical diplopia when looking obliquely, often head tilting, and torsional diplopia
242
What is the most common cause of a 4th nerve palsy?
Trauma
243
What is the most common cause of a 6th nerve palsy?
Raised ICP - tumours, benign intracranial hypertension
244
What are the features of a 6th nerve palsy?
Convergent squint and horizontal diplopia
245
What are the features of the classic Dandy-Walker malformation?
Complete or partial Genesis of cerebellar vermis Large cystic formation in posterior fossa due to dilatation of fourth ventricle Hydrocephalus (may not develop until adulthood)
246
What is a Dandy-Walker variant?
Part of vermis present, posterior fossa not enlarged
247
What is megacisterna magna?
Complete vermis, large retrocerebellar cyst
248
What is Joubert syndrome?
Familial agenesis of the cerebellar vermis
249
What are the features of Joubert syndrome?
Episodic hyperpnoea Ataxia Cognitive impairment
250
What is periventricular leukomalacia?
Bilateral necrosis of periventricular white matter with ensuing gliosis
251
What are the consequences of periventricular leukomalacia?
Interruption of the fibres responsible for lower limb and optic function --> spastic diplegia and visual impairment
252
Which nerves are affected in Erb's palsy?
C5-6
253
Which muscles are affected in Erb's palsy?
``` Deltoid Serratus anterior Supraspinatus Infraspinatus Biceps Brachioradialis ```
254
What are the clinical features of Erb's palsy?
Arm is flaccid, adducted, and internally rotated | Elbow is extended, wrist flexed
255
Which nerves are affected in a Klumpke paralysis?
C8-T1
256
What are the features of a Klumpke paralysis?
Intrinsic hand muscles are affected leading to flexion of wrist and fingers Cervical sympathetic involvement can lead to ipsilateral Horner syndrome
257
What is the defect in Friedreich's ataxia?
Spinocerebellar degeneration - abnormality of a gene for frataxin, which is involved in modulation of mitochondrial function
258
How is Friedreich's ataxia inherited?
Autosomal recessive
259
Where is the gene for Friedreich's ataxia?
9cen-q21
260
What are the clinical features of Friedreich's ataxia?
``` Onset 1st or 2nd decade Loss of proprioception Increasing impairment of cerebellar function Development of pis caves, nystagmus Cardiomyopathy Usually not ambulant by 20s or 30s ```
261
How is Friedreich's ataxia treated?
Symptomatic Physiotherapy Antioxidant treatment e.g. idebenone may be of benefit in delaying cardiac deterioration
262
What is dystonia?
Abnormal muscle tone without pyramidal involvement
263
What is dystonia musculorum deforming also known as?
Torsion dystonia
264
How is torsion dystonia inherited?
Autosomal dominant with incomplete penetrance
265
What is the gene for torsion dystonia?
9q34 in Jewish families; another unidentified gene in others
266
When is the usual onset of torsion dystonia?
After 5 years
267
What are the clinical features of torsion dystonia?
Can be focal or generalised Can be task specific e.g. when walking forwards but not backwards Often gradually spreads to other parts of the body
268
How is torsion dystonia treated?
High dose anticholinergics | Sometimes L-dopa
269
What is the cause of dopa-responsive dystonia?
Idiopathic
270
What are the clinical features of dopa-repsonsive dystonia
Can start in first 5 years | Symptoms vary throughout the day
271
Where is the gene for dopa-responsive dystonia?
14q22.1-q22.2
272
How is dopa responsive dystonia treated?
Lifelong L-dopa
273
What is the most common cause of childhood muscular dystrophy?
Duchenne
274
What is the defect in Duchenne muscular dystrophy?
Mutation in the dystrophin gene on the X chromosome
275
What is the natural history of Duchenne?
``` Diagnosis around 5 years Delayed motor milestones Proximal skeletal muscle weakness Waddling gait Difficulty climbing stairs Motor regression Wheelchair bound by 12 Decline in respiratory function and cardiomyopathy ```
276
What is the life expectancy in Becker muscular dystrophy?
67
277
When does wheelchair dependency happen in Becker?
between 3rd and 7th decade
278
How is Duchenne inherited?
X-linked recessive, but 1/3 are de novo mutations
279
How common is Duchenne?
1 in 3600-6000 male births
280
What is the defect in Duchenne?
Absence of dystrophin makes the muscle membrane vulnerable from shearing stresses, leading to degeneration of muscle fibres
281
How is Duchenne diagnosed?
Array CGH Next generation sequencing Muscle biopsy Prenatal diagnosis with CVS or amnio also possible
282
What are the examination findings in Duchenne
``` Small muscle bulk Pseudohypertrophy of calves Equinus deformity of feet Gait abnormalities Gower's manoeuvre Proximal weakness ```
283
Which gait abnormalities might be seen in Duchenne?
Knee-locking gait Trendelenburg gait Lordosis Easier to walk on toes than heels
284
What is a Trendelenburg gait?
Weak hip flexors mean the leg is swung forward, and the pelvis tilts down on the unsupported side
285
What is the instruction for Gower's manoeuvre?
Ask to lie supine then get up
286
How is Duchenne managed?
``` Steroids Physio OT Surgery as needed for fractures, tonotomies, scoliosis NIV ACE inhibitors or beta blockers ```
287
How is Emergy-Dreifuss muscular dystrophy inherited?
X-linked; Xq28
288
What are the features of Emery-Dreifuss muscular dystrophy?
Mild proximal muscular weakness Joint contractures Cardiac involvement and sudden cardiac death
289
How is facioscapulohumeral muscular dystrophy inherited?
AD - 4q35
290
What are the features of facioscapulohumeral muscular dystrophy?
Facial, scapular, humeral wasting and weakness Slowly progressive Other muscles can be involved Variable expression within families
291
What are the features of merosin-negative congenital muscular dystrophy?
``` Hypotonia Weakness Contractures Learning disability Don't achieve independent walking Absence of Mersin on muscle biopsy ```
292
What is the difference between merosin-positive muscular dystrophy and merosin-negative?
Similar but merosin-positive is less severe
293
What are the clinical features of congenital muscular dystrophies associated with abnormal glycosylation of alpha-dystroglycan?
Severe weakness | Brain malformations
294
What are some examples of congenital muscular dystrophies associated with abnormal glycosylation of alpha-dystroglycan?
Fukuyama congenital muscular dystrophy Muscle-eye-brain disease Walker-Warburg syndrome
295
How is myotonic dystrophy inherited?
AD
296
What are the features of congenital myotonic dystrophy?
``` Often unrecognised in mothers May have preceding polyhydramnios Facial weakness, hypotonia Often needing respiratory support Joint contractures, especially talipes ```
297
What are the features of myotonic dystrophy in older children?
Initially facial weakness Then weakness affecting temporals, sternomastoid, distal leg muscles Progressive weakness Difficulty in relaxing muscular contraction Cardiac involvement
298
How is myotonic dystrophy diagnosed?
Gene mutation analysis | Electromyogram ('dive bomber' discharges)
299
What is Thomsen disease also known as?
Myotonia congenita
300
What are the features of myotonia congenita?
Myotonia Cramps Muscular hypertrophy
301
What does biopsy show in Charcot Marie Tooth?
Onion bulb - due to demyelination followed by attempts at remyelination
302
What does the CSF show in Guillain Barre
Raised protein, normal white cell count
303
What is cranial nerve 1?
Olfactory
304
Is the olfactory nerve sensory or motor?
Sensory only
305
How do you test the olfactory nerve?
Ask about sense of smell, smell a mint
306
What is cranial nerve 2?
Optic
307
Is the optic nerve motor or sensory?
Sensory only
308
How do you examine the optic nerve
``` Pupil size, shape, symmetry Visual acuity Direct and consensual pupillary response Swinging torch Accommodation reflex Colour vision Visual inattention Blind spot Visual fields ```
309
What is cranial nerve 3?
Oculomotor
310
What is cranial nerve 4?
Trochlear
311
What is cranial nerve 6?
Abducens
312
What does oculomotor supply?
All extra ocular muscles except superior oblique and lateral rectus Parasympathetic fibres for pupillary constriction
313
What does the trochlear nerve supply?
Superior oblique
314
What does abducens supply?
Lateral rectus
315
How do you examine oculomotor, trochlear, and abducens nerves?
Ptosis Squint/nystagmus Eye movement through horizontal and vertical planes
316
What is cranial nerve 5?
Trigeminal
317
What are the branches of the trigeminal and are they sensory or motor?
Ophthalmic - sensory Maxillary - sensory Mandibular - sensory and motor
318
How do you test the trigeminal nerve?
Sensation over forehead, cheek and jaw Clench teeth and waggle jaw against resistance Jaw jerk and corneal reflexes
319
What is cranial nerve 7?
Facial
320
Is the facial nerve motor or sensory?
Motor to facial expression and stapedius | Sensory to anterior 2/3 of the tongue
321
How do you test the facial nerve?
``` Ask about change in taste or hearing Facial asymmetry Raise eyebrows Close eyes tight Blow out cheeks Smile Pursed lips ```
322
What is cranial nerve 8?
Vestibulocochlear
323
Is the vestibulocochlear nerve sensory or motor?
Sensory only
324
How do you test the vestibulocochlear nerve?
Ask about hearing | Weber and Rinne
325
What is the 9th cranial nerve?
Glossopharyngeal
326
What is the 10th cranial nerve?
Vagus
327
What does the glossopharyngeal nerve supply?
Motor for swallowing and speech | Sensory for posterior 1/3 of tongue
328
What does the vagus nerve supply?
Motor to muscles involved in speech and gag reflex
329
How do you test the glossopharyngeal and vagus nerves?
Ask about swallowing, drooling, speech and cough Say 'aah' look at uvula for deviation Gag reflex
330
What is the 11th cranial nerve?
Accessory
331
Is the accessory nerve sensory or motor?
Motor
332
How do you test the accessory nerve?
Trapezius and sternomastoid - shrug shoulders and turn head against resistance
333
What is the 12th cranial nerve?
Hypoglossal
334
Is the hypoglossal nerve motor or sensory?
Motor
335
How do you test the hypoglossal nerve?
Stick tongue out, look for atrophy or deviation | Push tongue into each cheek

MRCPCH Clinicals (17 decks)

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