Neurology Flashcards
What are the neurocutaneous syndromes?
(Ectodermal origin)
Neurofibromatosis type 1 - most common
Tuberous sclerosis
Sturge Weber
What are the features of NF type 1?
1:3000, AD, high penetrance, 1/3 new mutation Criteria (2 or more) -6 or more cafe au lait spots ->1 neurofibroma -Axillary freckles -Optic glioma -Lisch nodules -Sphenoid dysplasia -1st degree relative with NF1 (NF2 is in adolescents with bilateral acoustic neuroma) Both types are Associated with MEN, phaeo, PHT, RAS Can become sarcomas
What are the features of tuberous sclerosis?
Inherited or new -Depigmented ash leaf patches -Shagreen patches over flanks -Adenoma sebaceum angiofibromata -infantile spasms, DD, focal epilepsy, intellectual impairments, learning difficulties, autism -subungual fibromata -phakomata in retina -Rhabdomyomata in heart -PCKD CT brain tubers after 2 years
What are the features of Sturge Weber syndrome?
Port wine stain hemangiomas in trigeminal nerve
Always ophthalmic division
Skull x ray rail road tracks - calcified gyre
Epilepsy
Learning difficulty
Hemiplegia
What are neurodegenerative disorders?
Deterioration of motor and intellectual function
Seizures, spasticity, macro/microcephaly, movement disorders, vision/hearing loss, behaviour change
(developmental regression + neuro signs)
-Lysosomal storage disorders
(lipid storage disorders, mucopolysaccaridoses)
-Wilson disease
-SSPE (measles)
What is mucopolysaccharidoses?
Neurodegerative disorder
Due to glycosaminoglycans storage defect
Multisystem (neuro, ocular, cardio, skeletal)
6 months normal then DD then regression
What are the lipid storage disorders?
Tay Sachs (Hexosaminidase A defect) -late infancy social unresponsiveness -Die at before 5 years -cherry spot in macula Gaucher (beta glucosidase) -splenomegaly Niemann Pick (sphingomyelinase) -after 3 months get DD, vision/hearing loss, FTT) -cherry spot in macula, die at 4 years
What are the features of hydrocephalus?
Increasing head circumference > 2 SD Separation of sutures Bulging fontanelle Distended scalp veins Sun set eyes Raised ICP and its effects Can be diagnosed antenatally Rx - VPS or endoscopic venticulosotomy
What are the causes of hydrocephalus?
Non communicating -Aqueduct stenosis -Dandy Walker malformation -Chiari malformation -posterior fossa neoplasm/SOL Communicating -SAH -Meningitis
What causes NTD?
Failure of fusion of the neural plate during first 28 days of embryogenesis.
Risk of 2nd fetes having NTD increases by 10x if 1st fetes had NTD
How is folic acid supplemented?
High dose (5 mg od) for high risk Low dose (0.4 mg od) for low risk
What are the NTD?
Anencephaly (fatal, do TOP) Encephalocoele (surgery) Spina bifida occulta (tethering can cause bladder/LL) Meningocoele (surgery after birth) Meningomyelocoele (bad prognosis)
How to identify spina bifida occulta?
Tuft of hair Lipoma Birth mark Dermal sinus Incidental Xray, USS, MRI Rx - releasing tethered cord
What are the effects of myelomeningocoeles?
LL paralysis –>contractors –> physiotherapy
Neuropathic bladder –>CUR/hydroneph –> catheter
Neuropathic bowel –> fecal impaction –>laxatives
Sensory loss –>pressure sores –> skin care
Hydrocephalus from Chiari –> VPS
Scoliosis –>surgery
Hip dislocation and talipes
Most severe if spinal L3 or above lesion
What are the cerebrovascular diseases in children?
Intracranial haemorrhage
-EDH from head trauma (shock, anemia, neuro signs)
middle meningeal artery foramen spinosum
-SDH from non accidental injury (retinal haemorrhage)
bridging veins
-SAH (acute headache, neck stiffness, fever)
AVM or aneurysm
Dont do LP acutely
Stroke
-Infantile
-Childhood
How to investigate stroke?
MRI and MRA Carotid doppler Echocardiography Thrombophilia and vasculitis screen Homocysteine Rx- Aspirin prophylaxis
What are the causes of childhood stroke?
Varicella / post viral SLE/vsculitis Homocysteinuria, CADASIL Sickle, deficienct antithombins protein S Cyanotic CHD TOF Moyamoya vascular
What are the ataxias in children?
FRIEDRICH ATAXIA
-AR gene Frataxin
-ataxia, distal leg wasting, absent LL reflexes, Babinski+, pes cavus, dysarthria, optic atrophy, dorsal tract signs
-premature adult death from CMP
ATAXIA TELANGIECTASIA
-AR gene ATM
-Infants with oculomotor dyspraxia later get ataxia when school age, then dystonia in adolescence, then wheelchair bound
-telangiectasia show after 4 years in conjuctiva, torso
-IgA defect –> infections
-Risk of ALL in 10%
-High AFP
What are the neuromuscular disorders in children?
AHC (SMA, poliomyelitis)
Neuropathy (hereditary MSN, GBS, Bell palsy)
NMJ (MG)
Muscle (DMD, BMD, myositis, myotonia, myopathy)
DMD is the most common
What are the features of neuromuscular disorders?
Weakness (progressive or static) Delayed motor milestones Floppiness Gait disorder Fatigability Cramps
What is Duchenne muscular dystrophy?
Inherited progressive muscle degeneration
X linked recessive, 1:4000 males, 1/3 new mutations
Dystrophin on Xp chromosome
Myofibre necrosis and high CPK
Waddling gait, slow running, climbing difficulty, Gowers+
Pseudohypertrophy (fat sclerosis of muscles)
Present at 5 years age or earlier
Non ambulatory by 15 years or earlier
Die before 25 years or later from respiratory failure/CMP
1/3 have learning difficulties
Scoliosis is a common complication
BMD (some dystrophin, so present at 11, can’t walk in 20s, live to 40s)
How is DMD managed?
Exercise Stretching Orthoses Achilles lengthening Truncal brace CPAP Support groups Prednisolone for 10 days each month
What is myotonia dystrophica?
Delayed muscle relaxation after contraction
Hypotonia and weakness, learning difficulties
Testicular atrophy and baldness, cataracts
Death from CMP
What are the types of myopathies?
Congenital
Metabolic (glycogen storage disease, carnitine, mitochondrial)
Inflammatory (benign post viral, dermatomyositis)
-Dermatomyositis (symmetrical proximal weakness at 5 years with heliotrope rash)
What are the features of juvenile myasthenia?
Ab to AChR in motor end plate After 10 years age Ophthalmoplegia and ptosis Difficult chewing and facial weakness Generalized proximal weakness Dx - improves after IV edrophonium, Anti-MUSK, AcHR Ab Rx - Neostigmine, plasma exchange for crises CT chest for thymoma, thymectomy
What are the features of HMSN?
Symmetrical progressive wasting Distal > proximal, legs > arms In children AD Charcot marie tooth, common one Nerve Bx - onion bulb hypertrophy
What are the features of GBS?
2 weeks after URTI/campylobacter AGE peak after 2 weeks from onset Ascending symmetrical weakness Global areflexia Dysautonomia Aspiration risk from bulbar involvement Respiratory failure 95% full recovery CSF protein high but WBC normal (do after 1 week) Rx - supportive, plasma exchange/Ig Don't give corticosteroids
What are the features of Bell palsy?
isolated LMN facial nerve palsy
Mostly full recovery but over months
Associated with COA so exclude hypertension
Can cause xerophthalmia (eye patch)
Rx - Corticosteroids. Not acyclovir
DDx - herpes zoster (acyclovir), CPA angle tumor
What are the AHC disorders (SMA)?
Weakness, wasting, areflexia SMA is AR mutation in SMN gene Degeneration of AHC, severe progressive Type 1 In early infancy Intercostal recessions, tongue fasciculations Cant sit without aid Die before 1 year from respiratory failure Type 2 can't walk Type 3 can walk
What are the causes for a floppy infant?
Central (no truncal tone) or Peripheral (no limb tone/reflexes) Central -Cortical (HIE, mal-cortex) -Genetic (Down, Prader Willi) -Metabolic (hypothyroidism, hypocalcemia) Peripheral -SMA -Myopathy -Myotonia -Congenital myasthenia
What are the causes for central motor disorders?
Pyramidal tract disorders (adducted, flexed limbs) -HIE -Stroke -Tumor -Hemiplegic migraine -Cerebral dysgenesis Basal ganglia disorders (dystonia, chorea, athetosis) -HIE -RF -Wilson disease -Huntington disease Cerebellar disorders (scanning dysarthria, cerebellar signs) -Post viral (varicella) -Medulloblastoma -Ataxias
What are the causes of headache?
Primary -Migraine (Without aura/ with aura) -Tension (symmetrical, gradual) -Cluster Secondary -Trauma -AVM/ICH -Raised ICP/idiopathic intracranial hypertension -Substance abuse/withdrawal -Meningoencephalitis -Hypertensive encephalopathy -Sinusitis/Otitis Cranial neuralgias -Trigeminal neuralgia -Herpes zoster
What are the types of migraine?
Without aura
-90%
-lasts 1-72 hours
-Bilateral or unilateral
-Pulsatile over temporal or frontal area
-Photophobia, phonophobia, NV, abdominal pain
-Aggravated by movement
With aura
-10%
-Preceded by visual/sensory/motor aura
-Visual positive phenomena (fortification spectra zig zag)
-Visual negative phenomena (hemianopia, scotoma)
-Premonitory symptoms (tiredness, inattention, autonomic features)
What are the migraine triggers?
Genetic Changes in biorhythms Cheese Chocolate Caffeine Menstruation OCP
What are the features of a SOL?
Headache (worse supine, morning vomiting, straining) Mood, personality, school performance changes Visual field defects Focal signs, diplopia, squint Gait change Torticollis Growth failure Papilledema Cranial bruits from AVM
How to manage headache?
Classify type
Exclude secondary causes
Imaging only if red flags
Exclude sinusitis, otitis, TMJitis, hypertension
Rescue Rx (PCM, NSAIDS, metoclopramide, sumatriptan-serotonin agonist)
Prophylactic Rx (Pizotifen serotonin antagonist, propanolol, valproate, topiramate)
Psychiatric - relaxation techniques
What is a seizure?
Sudden disturbance in neurological function
From abnormal or excessive neuronal discharge
Types (epileptic, non-epileptic)
What are the Ddx for epilepsy in the history?
Breath holding attacks (temper, cyanosis, syncope, recover)
Reflex anoxic seizures (pain, apnea, pallor, GTCS, recover)
Syncope (faint, clonic)
Migraine
Benign paroxysmal vertigo
What are febrile seizures?
Fever + GTCS seizure without intracranial infection 6 months to 6 years, 3% of children 10% risk if familial 30% recurrent 1% chance of epilepsy (same as gen pop)
What factors increase the risk of recurrent febrile seizures?
Younger age
Early onset seizures in illness
Lower temperature at seizure onset
FHx
What are the types of febrile seizures?
Simple (no complications) Complex -focal -prolonged -repetitive in same illness -4% risk of epilepsy
What is the management of febrile seizures?
Acute seizure management Exclude meningitis/encephalitis Septic screen Antipyretics Advice on seizure first aid, rescue therapy NO AED NO EEG
What are the causes of seizures?
Epileptic -Idiopathic -Secondary (mal cerebrum, vascular, TORCH, HIE) -CNS tumor -Neurocutaneous syndromes -Neurodenegrative disorders Non epileptic -Febrile seizures -Hypoglycemia -Hypocalcemia, hypomagnesemia -Hypo/hypernatremia -Head trauma -Meningoencephalitis -Toxins
What is epilepsy?
Chronic neurological disorder Recurrent unprovoked seizures Semiology Incidence 0.05%, prevalence 0.5% 1:200 (semiology, syndrome, aetiology) EEG AED mono therapy Safety and school awareness
What is status epileptics?
One seizure lasting 30 mins
Multiple seizures within 30 mins without recovery of consciousness
What is the classification of epilepsy?
Generalized (absence, myoclonic, tonic, tonic-clonic, atonic)
-both hemispheres
Focal (Frontal , temporal, occipital, parietal)
-one hemisphere
What is the most common epilepsy?
Temporal lobe epilepsy
sensory auras, automatisms, dejavu
How to investigate epilepsy?
Hx (semiology)
Ex (neurocutaneous syndromes, injuries)
Ix (EEG for any unless Hx is strong, MRI/CT if focal, metabolic, genetic)
What are the features of generalized epilepsies?
Always LOC
No warning
Symmetrical
What are the principles of AED therapy?
Treatment depends on disease, patient, drug factors Match drug to epilepsy type Monotherapy first Minimum dose first then titrate Manage side effects Keep rescue therapy and drug card Stop after 2 years of no seizures
What are the common AED for epilepsy?
Valproate, lamotrigine for all generalized and focal
Carbamzepine for GTCS but not for absence, myoclonic
Ethosuximide for absence
What are the side effects of AED?
Valproate - Weight gain, hair loss, liver failure
Carbamazepine - SJS, neutropenia, autoinducer
What are the features of different epilepsies?
Absence (transient LOC, abrupt onset and termination, precipitated by hyperventilation)
Myoclonic (brief repetitive jerky movements)
Atonic (sudden falls)
Tonic-clonic (increased tone then rhythmical contraction)
What are the epilepsy syndromes?
West syndrome Lennox Gastaut syndrome Childhood absence epilepsy Benign epilepsy with centri-temporal spikes Juvenile myoclonic epilepsy
What are the features of BECTS? Rolandic
4-10 years
GTCS in sleep
Simple focal in face and tongue
Remit in adolescence
What are the features of childhood absence epilepsy?
4-12 years Abrupt staring and non responsiveness Abrupt termination without memory Last only a few seconds (less than 30 secs) Normal development 2/3 female Induced by hyperventilation 3 hertz spike and wave EEG 95% remission in adolescence
What are the features of West syndrome?
4-6 months Salaam spasms of head trunk and limb flexors Multiple bursts lasting few seconds often on waking Many times a day Social regression 2/3 have underlying cause EEG hypsarrhytmia Rx Vigabatrin, Corticosteroids 40% respond
