Abrupt loss of muscle tone - - head nod - - fall

Neurology Flashcards by Helen Nightingale

Epilepsy Syndromes:

Childhood Absence Seizures

3 Hx spike and wave (bilateral, symmetrical)
5 - 10 yo, often grow out of it
5 - 20 seconds
**Reproduced by hyperventilation**
Often FH

How well did you know this?

Not at all

Perfectly

Non-Epileptic Funny Turns

Anoxic/Syncopal causes

blue breath-holding
reflex anoxic syncope (pallid syncope)
vasovagal
cardiogenic (long QT)
obstructive - suffociation, Sandifer’s syndrome (reflux + neck twisting)

How well did you know this?

Not at all

Perfectly

Non-Epileptic Funny Turns

Movements without seizures

Rigors
Jitters
Paroxysmal dyskinesias
Alternating hemiplegia of infancy

How well did you know this?

Not at all

Perfectly

Non-Epileptic Funny Turns

Pain and headache, migraine equivalents

BPPV
Cyclical vomiting
Paroxysmal torticollis (head twisted with neck spasms, pain)

How well did you know this?

Not at all

Perfectly

Non-Epileptic Funny Turns

Behavioural and sleep

Day dreaming
Hyperventilation
Pseudoseizures
Gratification
Night terrors
Sleep myoclonus
Narcolepsy/cataplexy

How well did you know this?

Not at all

Perfectly

Atonic seizures

Abrupt loss of muscle tone

- head nod
- fall

How well did you know this?

Not at all

Perfectly

Myoclonic seizures

single brief jerks

How well did you know this?

Not at all

Perfectly

Infantile spasms

Salaam attacks

- brief forceful extension or flexion of trunk
- may include elevation of arms or legs

Often in clusters on waking
Upset the child
3 - 12 months

May assoc with brain injury, infection or brain malformation
25% idiopathic = better prognosis
Normal development = better prognosis

How well did you know this?

Not at all

Perfectly

Epilepsy Syndromes:

Benign Rolandic Epilepsy

3 - 13 years (peak age 9)
Normal intelligence
Nocturnal unilateral face paralysis with salivation, loss of speech
1 - 2 mins (may generalise)

EEG: high voltage diphasic centro-temporal spikes, activated by drowsiness, findings not related to symptoms, findings may occur in unaffected siblings

Treatment not needed
Resolve at puberty

How well did you know this?

Not at all

Perfectly

Epilepsy Syndromes:

Juvenile Myoclonic Epilepsy

8 - 26 years
Normal intelligence
Present with T/C or absences when sleep deprived BUT history reveals early morning brief arm jerks

EEG: polyspike and wave complexes, generalised 3Hz discharges, photosensitivity

How well did you know this?

Not at all

Perfectly

Epilepsy Syndromes:

West’s Syndrome

infantile spasms
developmental regression
EEG = high voltage chaotic background with asynchronous spike/polyspike discharges and decremental (voltage drop) during seizures

How well did you know this?

Not at all

Perfectly

Seizure Management

Carbemazepine for TC

Lamotrigine for absences

Steroids/vigabatrin for infantile spasms (NB. visual field defects with vigabatrin)

Valproate for other types.

How well did you know this?

Not at all

Perfectly

Neurofibromatosis Type 1:

Typical Cases

1 in 3000 (50% are new mutations)
17 q 11.2 (tumour supressor gene mutation)

> 6 Cafe au lait macules - 5mm for kids, 15mm for teens
Axillary (perineal) freckling
2 Lisch nodules in iris (pigmented nodules on slit lamp)
2 Subcutaneous nodular tumours over peripheral nerves - increasingly occur with age
Optic gliomas

How well did you know this?

Not at all

Perfectly

Neurofibromatosis Type 1:

Complications

Can get bony deformities
Increased malignancy risk in general
Mild LD
Aqueduct stenosis --> hydrocephalus
Renal artery stenosis --> systemic hypertension
Vascular accidents

How well did you know this?

Not at all

Perfectly

Tuberous Sclerosis:

Typical Cases

Dominant inheritance (70% spontaneous mutation)
1 in 20,000
9 q and 16 p - ??tumour suppressor genes

Ash-leaf macules - depigmented “hypomelanotic”, best seen with Wood’s lamp
Shagreen patch - roughened, over lumbar spine = connective tissue naevus
Facial angiofibromas
Periungual fibromas (teens)

80% epilepsy under 5y
50% learning disabilty, often assoc with infantile spasms and multiple cerebral tumours

How well did you know this?

Not at all

Perfectly

Tuberous Sclerosis: Complications

Cardiac rhabdomyoma (foetal hydrops, foetal heart failure)
Polycystic kidneys
Renal and hepatic angiomyolipomas
Retinal astrocytomas

How well did you know this?

Not at all

Perfectly

Red flags for space occupying lesion

Study These Flashcards

Worse lying down (other headaches improve)
Morning vomiting
Personality change/school performance change
Papilloedema (possible in IIH)
Headache which wakes from sleep
Change in headache intensity or frequency

Focal neuro

visual fields = pituitary, craniopharyngioma
cerebellar signs = posterior fossa
cranial nerves = brainstem

Cranial bruit = AV malformation

Diastematomyelia

Study These Flashcards

Congenital splitting of spinal cord, usually at upper lumbar levels, longitudinally
Neural tube defect
Can cause bladder or lower limb defect as child ages

Encephalocele

Study These Flashcards

= cranium bifidum
Midline skull defect (front or back) through which brain + meninges bulge

+/- cerebral malformations

? surgical correction

Meningocele

Study These Flashcards

Midline defect over spine
Protrusion of meninges + CSF ONLY

Surgical repair

Meningomyelocele

Study These Flashcards

Midline defect over spine
Protrusion of spinal cord as well as meninges
Thus leg paralysis and sensory loss, bladder and bowel dysfunction

(Arnold) Chiari malformation

Study These Flashcards

Downward displacement or cerebellar tonsils through foramen magnum

-> obstructive hydrocephalus
-> +/- syringomelia

Headaches (worse with bending/sneezing), weakness, dysphagia, vomiting, dizziness, tinnitus, poor coordination, upper limb paraesthesia, papilloedema, dysautonomia

4 types, progressively more malformed brains. III and IV have encephalocele/spina bifida. Type IV incompatible with life.

Decompressive surgery - removing lamina of upper vertebrae +/- shunt

Progressive multifocal leukoencephalopathy (PML)

Study These Flashcards

JC Papovavirus
Progressively infects oligodendroglial cells
Confusion + seizures –> death

Counselling re seizures and driving

Study These Flashcards

Any seizures = stop driving and inform DVLA and insurers

If seizure-free for 1 year (with or without meds) can drive again

If seizures only when asleep for 3 years, can drive again

If re-starting need to inform DVLA and insurers

Spinal Muscular Atrophy

autosomal recessive - SMN1 defect, 5q11 - 13 SMN necessary for survival of motor neurons progressive muscle wasting and mobility impairment, proximal muscles and lung muscles first commonest genetic cause of infant death 1 in ten thousand (1 in fifty are carriers) hypotonia with absent tendon reflexes EMG fibrillation and denervation Muscle biopsy = group atrophy CK normal or high

Spinal Muscular Atrophy 1 = Werdnig-Hoffman

Neonatal onset incl resp failure | Life expectancy 2 years

Spinal Muscular Atrophy 2 = Dubowitz

Onset 6 - 18 months Never walk but can sit Live to adulthood

Spinal Muscular Atrophy 3 = Kugelberg-Welander

Onset over 18 months Walk without support although this may be lost in time Normal life expectancy

Spinal Muscular Atrophy 4

Adult onset Gradual weakening from 30s onwards, mainly proximal muscles, may need wheelchair Normal life expectancy

Sturge-Weber Syndrome

Sporadic disorder ``` 1. facial angiomatous naevus (port-wine stain) AND 2. venous angioma of leptomeninges OR 3. glaucoma ``` 8% of children with a facial port wine stain have SWS 25% if in opthalmic trigeminal region 33% if bilateral

Sturge-Weber Syndrome: Complications

75% seizures - often

Status Epilepticus

> 30 mins OR repeated without recovery 5% mortality 20% morbidity rule out: hypo, electrolyte imbalance, drugs, infection, trauma

Status Epilepticus: Complications

``` HIE, cerebral oedema, raised ICP, hippocampal sclerosis Acute resp/cardiac failure Aspiration, LRTI, pulmonary oedema Cardiac arrythmia Hyper/hypotension Metabolic hypos, hypers, dehydration Multi-organ failure DIC ```

Causes of raised ICP

``` Lump - tumour, abscess Obstruction - hydrocephalus, venous thrombosis Cerebral oedema Intracranial bleed Idiopathic intracranial hypertension Hypercapnoea ```

Friedreich's Ataxia

1 in fifty thousand 50% of all heriditary ataxias are F's Homozygous for expasion of GAA repeats on Frataxin gene (chr 9) Affects dorsal columns (sensory light touch/vibration) and motor pathways Onset at puberty - wheelchair by 15y Ataxia, absent reflexes, upgoing plantars, loss of proprioception, pes cavus Scoliosis, hypertrophic cardiomyopathy, abnormal saccades and pursuit, optic atrophy, deafness, diabetes

Ataxia Telangectasia

Autosomal recessive - chr 11q22 - 23, ATM protein (DNA repair) Progressive neurodegeneration + immunodeficiency + risk of malignancy Truncal ataxia

Progressive Atrophy of Cerebellum

``` Pontocerebellar atrophy Carbohydrate-deficient glycoprotein syndrome Spinocerebellar degeneration Tay-Sachs Menke's disease Rett's syndrome PKU ```

Muscular Dystrophy

X-linked recessive Xp21 dystrophin - anchors cytoskeleton of muscle cells PC - delayed walking, proximal weakness, Gower's sign, waddling Lumbar lordosis, toe walking, pseudohypertrophy of calves, buttocks, delts Serum CK v elevated under 5y then declines as muscle is lost

Duchenne Muscular Dystrophy

Becker's Muscular Dystrophy

Gradually increasing proximal muscle weakness Dystrophin problem less severe than DMD Later onset of weakness and survive to adulthood

Charcot-Marie-Tooth disease Hereditary motor-sensory neuropathy type 1

peroneal muscular atrophy - upside down champagne bottle, weakness of dorsiflexion, foot drop gait disturbance loss of proprioception and vibration sense nerve conduction studies sural nerve biopsy = onion bulb formations

Neurology Flashcards

(41 cards)