Neurology Flashcards
Causes of Peripheral Neuropathy?
A – Alcohol B – B12 deficiency C – Cancer and Chronic Kidney Disease D – Diabetes and Drugs (e.g. isoniazid, amiodarone and cisplatin) E – Every vasculitis
What is Charcot-Marie-Tooth disease?
inherited disease that affects the peripheral motor and sensory nerves. Autosomal dominant mutation which causes dysfunction to myelin and the axons
Classical features of Charcot-Marie-Tooth disease?
- Distal muscle wasting and weakness causing “inverted champagne bottle legs”
(hands and ankle dorsiflexion weakness) - High foot arches (pes cavus)
- Reduced tendon reflexes and muscle tone
- Peripheral sensory loss
Management of Charcot-Marie-Tooth disease?
SUPPORTIVE MDT
Neurologists and geneticists to make the diagnosis
Physiotherapists to maintain muscle strength and joint range of motion
Occupational therapists to assist with activities of living
Podiatrists to help with foot symptoms and suggest insoles and other orthoses to improve symptoms
Orthopaedic surgeons to correct disabling joint deformities
What indicates NF-2?
Bilateral Acoustic Neuromas
What chromosome is NF-1 gene found on and what protein does it code for?
Chromosome 17 - codes for neurofibromin which is a tumour suppressor protein
What chromosome is NF-2 gene found on and what protein does it code for?
Chromosome 22 - codes for Merlin which is a tumour suppressor protein particularly important in Schwann Cells - therefore SCHWANNOMAS develop
What other tumour is NF-2 associated with?
What are the symptoms?
Acoustic Neuromas - tumours of the auditory nerve innervating the inner ear.
Hearing loss
Tinnitus
Balance problems
NF-1 features?
CRABBING. 2/7 of:
C – Café-au-lait spots (6 or more) measuring ≥ 5mm in children or ≥ 15mm in adults
R – Relative with NF1
A – Axillary or inguinal freckles
BB – Bony dysplasia such as Bowing of a long bone or sphenoid wing dysplasia
I – Iris hamartomas (Lisch nodules) (2 or more) are yellow brown spots on the iris
N – Neurofibromas (2 or more) or 1 plexiform neurofibroma
G – Glioma of the optic nerve
Complications of NF-1?
GLIMMERS
Gastrointestinal stromal tumour (GIST - sarcoma)
Learning problems / Leukaemia
Increased risk of cancer (BREAST/ brain tumours)
Migraines
Malignant peripheral nerve sheath tumours
Epilepsy
Renal artery stenosis - causing Hypertension
Scoliosis / Spinal cord tumours
+ vision loss (secondary to optic glioma)
Cutaneous features of Tuberous Sclerosis?
ASH LEAF SPOTS- depigmented ‘ash-leaf’ spots which fluoresce under UV light
SHAGREEN PATCHES roughened patches of skin over lumbar spine
adenoma sebaceum (angiofibromas): butterfly distribution over nose
fibromata beneath nails (subungual fibromata)
POLIOSIS is an isolated patch of white hair on the head, eyebrows, eyelashes or beard
café-au-lait spots* may be seen
Neuro features of Tuberous Sclerosis
Epilepsy (infantile spasms/ partial)
Developmental delay / intellectual difficulties
Other features of Tuberous Sclerosis
Rhabdomyomas in the heart
Gliomas (tumours of the brain and spinal cord)
Polycystic kidneys
Lymphangioleiomyomatosis (abnormal growth in smooth muscle cells, often affecting the lungs)
Retinal hamartomas
Lambert Eaton syndrome
What condition are features similar too?
What cancer is it associated too?
Myasthenia Gravis
Small cell Lung cancer
Lambert Eaton syndrome
Treatment?
Amifampridine (allows more acetylcholine to be released)
Other options:
Immunosuppressants (e.g. prednisolone or azathioprine)
IV immunoglobulins
Plasmapheresis
Lambert Eaton syndrome
Features?
Proximal muscle weakness hyporeflexia Diplopia autonomic symptoms: dry mouth, impotence, difficulty micturating Ptosis Dysphagia
Lambert Eaton syndrome
What is it?
Antibodies produced by the immune system against voltage-gated calcium channels
Localising features of focal seizures
Temporal?
HEAD
Hallucinations (auditory/gustatory/olfactory),
Epigastric rising/Emotional,
Automatisms (lip smacking/grabbing/plucking),
Deja vu/Dysphasia post-ictal)
Localising features of focal seizures
Parietal?
Paraesthesia
Localising features of focal seizures
frontal?
jacksonian march
Head/leg movements, posturing, post-ictal weakness
Localising features of focal seizures
Occipital?
Floaters and flashes
L-dopa unwanted effects?
Dyskinesia, Drowsiness, Dry mouth
On-off effect
Palpitations, postural hypotension, psychosis
Anorexia
Dopamine receptor agonist examples?
bromocriptine, ropinirole, cabergoline, apomorphine
Dopamine receptor agonist unwanted effects?
impulse control disorders and excessive daytime somnolence
more likely than levodopa to cause hallucinations in older patients.