Neurological Disorders Flashcards
Features tension type headache
Symmetrical
Gradual Onset
Band or pressure tightness
No associated symptoms
Features migraine
Episodes lasting 1-72 hours Commonly bilateral Pulsatile Over temporal or frontal area GI disturbance Photophobia Phonophobia Aggravated by activity Relived by sleep
Features migraine aura
Visual, sensory, or motor
Most commonly visual
Negative phenomena .e.g. hemianopia or scotoma
Positive phenomena .e.g. fortification spectra
Migraine triggers
Disturbance of biorhythm .e.g. late nights
Stress
Certain foods .e.g. cheese, chocolate, caffeine
Menstruation and OCP
Uncommon forms of migraine
Familial hemiplegic migraine (calcium channel defect)
Sporadic hemiplegic migraine
Basilar type migraine- vomiting with nystagmus
Periodic syndromes .e.g. cyclical vomiting, benign paroxysmal vertigo
Features space occupying lesion
Visual field defects .e.g. craniopharyngioma Cranial nerve abnormality Abnormal gait Torticollis (tilting of the head) Growth failure Papillodema Cranial bruit Early/late puberty
Features Raised intracranial pressure
Worse lying down
Morning vomiting
Night-time waking
Change in mood, personality, and educational performance
Mx Migraine- rescue treatments
Analgesia: paracetamol and NSAIDs Antiemetics .e.g. prochlorperazine, cyclazine Triptans .e.g. sumatriptan (nasal prep) Warm pads Cold compresses Topical forhead balms
Mx Migraine- prophylactic
Indicated with frequent and intrusive headaches
Sodium channel blockers .e.g. topiramate, valproate
Beta-blockers .e.g. propranolol (not in asthma)
Tricyclics .e.g. pizotifen (causes weight gain and sleepiness), amitriptyline
Acupuncture
Features febrile seizure
Epileptic seizure in the presence of fever and absence of intracranial infection
Typically children aged 6m to 6y
Occurs with viral infection and rapid rise of temp
Brief generalised tonic-clonic
Features complex febrile seizures
Focal
Prolonged (>15-30m)
Repeated within same illness
Mx febrile convulsion
Admission for first seizure of complex seizure
Reassurance of parent/career
Antipyretics have no effect on seizure
In prolonged seizures: rescue therapy by buccal midazolam
Causes of paroxysmal disorders
Ble breath holding spells Reflex asystolic syncope (trauma, cold, fright, fever) Syncope Migraine Benign paroxysmal vertigo Cardiac arrhythmia Tics, daydreaming, night terrors Self-gratification Non-epileptic seizures Pseudoseizures Fabricated Induced illness Paroxsymal movement disorders
Generalised epileptic seizures types
Absence seizures (may be precipitated by hyperventilation) Myoclonic seizures Tonic seizures Tonic-clonic seizures Atonic seizures
Generalised epileptic seizures features
Onset in both hemispheres Loss of consciousness No warning Symmetrical seizure Bilateral synchronous discharge on EEG
Features focal epileptic seizures
Originate in small group of dysfunctional neurones
Heralded by an aura
Can evolve to tonic-clonic
Focal seizures brain areas
Frontal- motor phenomena .e.g. Jacksonian march
Temporal lobe- auditory or sensory, lip-smacking, plucking at clothing, non-purposeful walking (spread to pre-motor)
Occipital- visual
Parietal- contralateral altered sensation
Ix Epileptic seizures
ECG, esp convulsive seizures
EEG: ictal, inter-ictal, sleep-deprived, 24hr or 5day video-telemetry
Brain imaging
Features Infantile spasms (West syndrome)
3-12m Violent spasms of head, trunk and limbs Extension of arms Lasts 1-2s Mulitple bursts of 20-30 On waking or multiple times a day EEG- hypsarrythmia (chaotic background of slow wave activity) Similar to colic
Mx Infantile spasms
Vigabatrin Corticosteroids 60-70% response Relapse common Most lose skills and develop learning disability
Features Lennox-Gastaut syndrome
1-3 y Mostly atypical, atonic absences Tonic seizures in sleep Neurodevelopmental arrest or regression EEG- slow generalised spike and wave (1-3Hz) Poor prognosis
Features Childhood Absence Epilepsy
4-12y
Momentary unresponsive stare with motor arrest
Sudden onset
Lasts a few seconds
Poor recall
Normal development, may interfere with schooling
Common in females
Induced by hyperventilation
EEG- generalised spike and wave discharges (3-4Hz)
Features Benign Rolandic Epilepsy
Tonic-clonic seizures in sleep or simple focal seizures
Abnormal feeling in tongue and distortion of face
EEG- sharp focal waves from rolandic area
Benign
Remits in adolescence
Features Panayiotopoulus Syndrome
1-5y
Autonomic features .e.g. vomiting, unresponsive staring, eye deviation
EEG- posterior focal sharp waves and occipital charges
Remits in childhood
Features Juvenile Absence epilepsy
10-20y Absences and generalised tonic-clonic seizures Photosensitivity EEG- 4-6Hz atypical spike Remission unlikely
Feature Juvenile Myoclonic Epilepsy
10-20y Myoclonic seizures, generalised tonic-clonic, abscences Typical Hx throwing drinks or cereal Occurs in morning Remission unlikely
Anti-epileptic drugs
Tonic-clonic: valproate
Abscence: valproate
Myoclonic: valproate
Focal: carbamezapine
S/E Anti-epileptic drugs
Valproate- weight gain, hair loss, teratogenic, idiosyncratic liver failure
Carbamazepine- rash, hyponatraemia, ataxia, live enzyme induction
Lamotrigine- rash, insomnia, ataxia
Ethosuximide- nausea and vomiting
Levetiracetam- irritability
Gabapentin- insomnia
Topiramate- weight loss, depression, paraesthesia
Vigabatrin- irritability, restriction of visual fields
Non-medication Mx Epilepsy
Ketogenic diet (low carb, fat based)
Vagal nerve stimulation
Epilepsy surgery (concordance between ictal EEG, MRI and functional imaging)
-temporal lobectomy in medial temporal sclerosis
-hemispherectomy (disconnection of the hemisphere)
Safety netting Epilepsy
Avoiding deep baths No swimming unsupervised Driving (1y seizure free) Avoidance of heights No pregnancy with some medications
Definition status epilepticus
Epileptic seizure lasting 30 minutes or repeated epileptic seizures for 30m without recovery
Corticospinal tract disorders
Cerebral dysgenesis Global hypoxia-ichaemia Arterial ischaemic stroke Cerebral tumour Acute disseminated encephalomyeltitis Postictal paralysis Hemiplegic Migraine
Basal Ganglia Disorders
Acquired brain injury -Acute and profound hypoxia-ischaemia -Carboin monoxide posioning -Post-cardiopulmonary bypass chorea Post-strep chorea (Rheumatic fever) Mitochondrial cytopathies Wilson Disease Vit E deficiency Pontocerebellar hypoplasia
Cerebellar Disorders
Acute- medication and drugs
Post viral esp. varicella
Posterior fossa lesion/tumour
Genetic and degenerative .e.g. Friedreich
Features Cerebellar disorders
Past pointing
Poor alternating movements
Wide based ataxic gait
Nystagmus
Features Basal Ganglia disorder
Difficulty initiating movement
Jerky movements
Fluctuating increased tone
Features Corticospinal tract disorders
Weakness in pattern: -adduction at shoulder -flexion at elbow -adduction and internal rotation at hip -flexion at hip and knee -plantar flexion at ankle Brink hyperreflexia Extensor plantar reflexes Loss of fine finger movement
Features Neuromuscular disorders
Hypotonia
Delayed motor milestones
Muscle weakness- may be progressive or static
Unsteady/abnormal gait
Fatiguability
Muscle cramps (suggest metabolic myopathy)
Define Gower’s Sign
Need to turn prone to rise to standing from a supine position
Normal until 3y
Very weak- climb legs with hands to gain standing position
Sign of proximal muscle weakness
Ix Myopathy
Plasma creatinine kinase
Muscle biopsy
DNA testing
US and MRI of muscles
Ix Neuropathy
Nerve conduction studies
DNA testing
Nerve biopsy (sural nerve in leg)
EMG
Features spinal muscular atrophy (type 1)
Progressive weakness and wasting Alert expression Fasciculations of the tongue Symmetrical flaccid paralysis Absent deep tendon reflex Intercostal recession Weakness of bulbar muscles- weak cry, saliva pooling Neer sit unaided Death by respiratory failure by 1y
Features Charcot-Marie-Tooth
Progressive distal muscle wasting Present at pre-school Bilateral foot drop Loss of ankle reflexes Pes Cavus Lower limbs>> Upper Limbs Hypertrophic nerves (attempted remyelination)
Features Guillian Barre Syndrome
Typically 2-3w after URTI or gastroenteritis
Ascending progressive symmetrical weakness
Loss of tendon reflexes
Autonomic involvement
Sensory symptoms in trunk and distal limbs mild
Bilateral facial weakness (often missed in young children)
Difficulty chewing/swallowing
Maximum muscle weakness 2-4w after onset of illness
Ix Guillian Barre
CSF: WCC normal, protein raised
MRI spine: to exclude spinal lesion
Nerve conduction studies: reduced velocities
Features Bell Palsy
Isolated lower motor neurone paralysis
Facial weakness
Associated with herpes or Lyme disease
Mx Bell Palsy
Aciclovir if Herpes suspected
Corticosteroids
Eye protection and ointment
Features Juvenile Myasthenia gravis
>10y Ophthalmoplegia and ptosis Loss of facial expression Difficulty chewing Generalised proximal weakness Muscle fatiguability Improved with IV edrophonium/oral pyridostigmine
Mx Juvenile Myasthenia
Identifying acetylcholine or anti-MuSK antibodies
Choline esterase inhibitor .e.g. pyridostigmine, neostigmine
Immunosuppressive therapy
Immunomodulators .e.g. prednisolone, azothiaprine, mycophenolate mofetilis
Monoclonal antibodies .e.g. rituximab
Thymectomy is thymoma or with antibody +ve
Plasma exchange for crisis
Epidemiology Duchenne Muscular Dystrophy
1/3000-6000 male infants
X linked recessive
1/3 de novo mutations
Dystrophine gene delection- Ca+ influx causing calcium calmodulin complex breakdown andmyofibre necrosis
Features Duchenne Muscular Dystrophy
Usually diagnosed aged 5 Waddling gait Language delay Stairs one by one Slow runners compared to peers Gowers +ve Slower and clumsier than peers Progressive muscle atrophy and weakness Non-ambulant by 10-14y Reduced life expectancy 1/3 learning difficulties Scoliosis common complication
Mx Duchenne
Physiotherapy o prevent contractures
Tendoachilles lengthening and scoliosis surgery
Overnight CPAP to prevent nocturnal hypoxia
Corticosteroids to preserve mobility and prevent scoliosis
Features Beckers Muscular Dystrophy
Some functional dystrophin production Clinically milder disease Slower progression Average age of onset is 11y Ambulatory until 20s Life expectancy to middle/old age
Features Limb Girdle Muscular Dystrophy
Proximal upper and lower limb weakness
Cardiomyopathy
Difficulty breathing
Raised plasma CK
Features congenital muscular dystrophies
Present at birth or early infancy Weakness Hypotonia Contractures Slowly progressive proximal weakness Tendency to contracture once ability to walk is lost Feeding and breathing difficulty
Metabolic myopathies presentation
Floppy infant
muscle weakness or cramps on exercises
Causes of metabolic myopathy
Glycogen storage disorder
Disorder of lipid metabolism
Mitochondrial cytopathies
Causes of floppy infant
Hypoxic ischemic encephalopathy Intracraial haemorrhage Cerebral malformation Chromosomal disorder Congenital infection Peroxismal disorder Drug effects .e.g. benzos Brith trauma esp. breech Syringomyelia Spinal muscular atrophy Myasthenia gravis Infantile botulism Muscular dystrophy Congenital myopathies Heridotry neuropathy Inborn error of metabolism Carnitine deficiency
Features Benign acute myositis
Postviral phenomenon, follows URTI
Self-limiting course
Pain and weakness
Raised plasma CK
Features dermatomyositis
systemic illness
Onset 5-10y
Insidious: fever, misery, symmetrical muscle weakness
Pharyngeal muscle involvement affecting swallowing
Violaceous pink purple rash on eyelids
Rash affecting extensor surfaces of joints
Subcutaneous calcifications (calcinosis)
Ix dermatomyositis
Inflammatory markers raised
Inflammatory cell infiltrate and atrophy on muscle biopsy
Features Dystrophia Myotonica
Relatively common
Newborns- hypotonia, feeding and resp difficulty
Thin ribs
Talipes at birth
Oligohydramnios and reduced fetal movements
Myopathic facial appearance
Myotonia
Adults: baldness, cataracts, testicular atrophy, T2DM
Slow release of handshake or tight fist
Cx: cardia dysrhythmia
Causes of Ataxia
Freidrich ataxia Ataxia Telangiectasia Cerebrellar agenesis/dysgenesis Post-infctious cerebellilitis- varicella Posterior fossa tumours Hereditory Miller Fisher syndrome (Guillian Barre variant) Mitochondrial disease Drugs e.g. carbamezipine, lamotrigine, ethanol
Features Friedreich ataxia
Worsening ataxia Dysarthria Distal wasting in lower limbs Absent reflexes Pes Cavus Impairment of joint position and vibration sense Extensor plants Optic atrophy Cerebellar component more apparent with age
Cx Fredreichs ataxia
Kyphoscoliosis Diabetes Cardiomyopathy Cardiorespiratory compromise Death aged 40-50
Features Ataxia Telangiectasia
Mild delay in motor development Oculomotor problems Inco-ordincatio Delay in ocular pursuits and saccades Difficulty with balance Complex eye movement disorders Wheelchair required by adolescents Telangiectasia develop in conjunctiva and shoulder (4y)
Cx Ataxia Telangiectasia
Increased susceptibility to infection
Deficiency of IgA and IgE
Malignancy .e.g. lymphoma and acte leukaemia
Progressive pulmonary disease with bronchiectasis
Raised serum alpha-feroprotein
Sensitivity to ionising radiation
Extradural Haemorrhage Mechanism
Direct head trauma
Skull fracture
Tearing of middle meningeal passing through foramen spinosum of sphenoid bone
Bleeding into extradural space
Extradural Haemorrhage Hx
Direct head trauma
Lucid interval
Deterioration of conscious level
Mx Extradural haematoma
CT scan
Correct hypovolaemia
Urgent evacuation of the haematoma
Arrest of bleeding
Features Extradural Haematoma
Focal neurology: -dilation of ipsilateral pupil -paresis of contralateral limbs -false localising Vith nerve paresis Shock Anaemia
Subdural Haematoma Mechanism
Tearing of bridging veins crossing subdural space
Characteristic of NAI by shaking, or brain shrinkage
Subarachnoid haemorrhage Hx
Rapid onset severe headache with vomiting, confusion or lowered GCS
Mx Subarachnoid Haemorrhage
CT identifying blood in CSF (or LP)
Neurosurgical or interventional radiology
Childhood Stroke Pathology
Commonly carotid, anterior cerebral arteries and middle cerebral arteries- hemiparesis and speech disturbance
Rarely posterior circulation- visual and cerebellar signs
Causes childhood stroke
Cardiac .e.g. cyanotic heart disease
Haematological .e.g. sickle cell
Postinfective
Inflammatory .e.g. SLE
Metabolic/Genetic
-homocystinuria
-MELAS (myoclonic epilepsy, lactic acidosis, stroke)
-CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencepgalopathy)
Vascular malformation .e.g. AV malformation, MoyaMoya
Trauma
Ix Childhood stroke
cerebral and external carotid vascular MRI, with angiogram and venography
Echo to detect embolism
Thrombophilia and vasculitis screen
Metabolic tests for homocysteine and mitochondrial
Neural tube defect prevention
Forms at day 28
Folic acid supplementation pre-conceptually
Improved maternal nutrition
10x increase in subsequent births
Anencephaly
Determined by US
Failure of cranium and brain development
Fatal (termination offered)
Encephalocele
Extrusion of brain and meninges through midline skull defect
Surgical correction possible
Often associated cerebral malformations
Spina bifida occulta
Failure of fusion of vertebral arch
Overlying skin lesion .e.g. tuft of hair, lipoma, birth mark, dermal sinus
Underlying tethering presents with neurological deficits
Myelomeningocele Features
Variable paresis of lower limbs] Hypotonia Muscle imbalance Sensory loss Bladder denervation Bowel denervation Scoliosis Hydrocephalus (Chiari type 2 malformation)
Mx (myelo)meningocele
Some functional dystrophin production Clinically milder disease Slower progression Average age of onset is 11y Ambulatory until 20s Life expectancy to middle/old age
Difference between meningocele and myelomeningocele
Meningocele has an outpouching of pia and arachnoid covered by skin and dura
Myelomeningocele has an outpouching with a neural plaque at the surface
Causes of hydrocephalus
Aqueduct stenosis Atresia of outflow foramina of 4th ventricle Chiari maformation Posterior fossa neoplasm Vascular malformation Intraventricular haemorrhage in preterm infant Subarcahnoid haemorrhage Meningitis
Features of hydrocephalus
Skull sutures not fused Disproportionate head circumference or excessive growth rate Bulging anterior fontanelle Scalpveins prominent Fixed downward gaze or sunsetting eyes
Mx Hydrocephalus
Symptomatic relief of raised ICP
Monitoring of head circumference
Insertion of ventriculoperitoneal shunt
Cx Ventriculoperitoneal shunt
Blockage
Infection, usually coagulase-negative staph
Overdrainage causing low-pressure headache
Features Neurofibromatosis Type 1
Cafe au lait spots (>6 >5mm/15mm, pre/post puberty)
Neurofibroma: firm nodular overgrowth of nerve
Axillary freckling
Optic glioma, possible visual impairment
Lisch nodule: hamartoma of the iris (seen on slit lamp)
Bony lesions from sphenoid dysplasia (eye protrusion)
Epidemiology Neurofibromatosis
1/3000 live births Autosomal dominant High penetrance Variable expression 50% de novo
Neurofibromatosis type 2 features
Presenting in adolescents
Bilateral acoustic neuromata (deafness and cerebella-pontione angle syndrome)
5th nerve paresis
Cerebellar ataxia
Cutaneous features tuberous sclerosis
Depigmented ash leave patches
Amelanotic naevi fluorescing under Wood’s UV light
Roughened patches(shagreen) over lumber spine
Angiofibroma (butterfly distribution)- unusual <3y
Neurological features tuberous sclerosis
Infantile spasms Developmental delay Focal epilepsy Intellectual disability Autism
Extra-neurocutaneous features tuberous sclerosis
Fibromata beneath nails Dense white areas on retina (phakomata) Rhabdomyomata of heart Angiomyolipomas Polycystic Kidneys Cysts in lungs
Sturge-Weber syndrome features
Haemangiomatous facial lesion (port wine stain)
Distribution of trigeminal nerve
Similar intracranial lesion (ipsilateral leptomeningeal angioma)
Epilepsy
Intellectual diability
Contralateral hemiplegia
High risk of ipsilateral glaucoma
Ix Sturge-Weber
Calcification of gyri showing rail-road track on Xray
Neurodegenerative disorders (commonest)
Lysosomal storage disorders
Peroxisomal enzyme defects
Wilson disease
Features Adrenoleukodystrophy
Peroxisomal defects (fatty acid breakdown) Neonatal-hypotonia, feeding problems, seizures, facial features Xlinked childhood cerebral- boys 4-12y, school failure, behaviour changes, regression, ataxia Xlink Adrenomyeloneuropathy- males with slow progressive spastic paraparesis and dorsal column sensory disturbance
