Neurology Flashcards

Question

transient myosthenia gravis

Answer 1

10-20% of infants born to myasthenic mothers due to transfer of maternal AChR antibodies - present with feeding and respiratory difficulties by 72 hours of life - hypotonia, weakness, weak cry, stridor, recurrent choking/apnoeic episodes - may present with reduced feta movements, arthrogyposis if severe Diagnosis: neostigmine (inhibits acetylcholyesterase) Rx: support with feeding and breathing Neostygmine Symptoms resolve by 2 months

Answer 2

fatigable weakness ptosis opthalmoplegia dysarthria dysphagia symptoms worse at end of day or after repeated activity

Answer 3

Muscle channelopathy —> muscle membrane hyperexcitability impaired relaxation warm up phenomenon- usualy worse after period of rest and improved with continuing exercise worse in cold muscle hypertrophy can present with difficulty opening eyes Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, generalised hypertrophy (children resembling body builders), sluggishness of movement, transient weakness in some mutations, pain, and cramping. Myotonia is prominent and may develop at 2-3 years of age. The disease may appear clinically stable and non-progressive for many years. Routine histochemical preparations of muscle biopsy are non-diagnostic and show minimal pathologic changes.

Answer 4

Epilepsy affects 1% Australians

Answer 5

Channelopathy- mutation in voltage-gated K+ channels – KCNQ2 and KCNQ3 AD inheritance Clonic seizures, onset first few days of life, usually resolve in weeks Normal development Exclude other causes and use anti seizure meds to treat acutely, but no long term medications - usually very good prognosis ***rare severe outcome with KCNQ2 epileptic encephalopathy

Answer 6

Triad: Infantile spasms, hypsarrhythmia, developmental arrest Epileptic encephalopathy Clusters of brief contractions especially on waking Peak onset 3-7 months, almost all in first year most common cause is focal cortical dysplasia Poor prognosis Rx: steroids/ACTH, vigabatrin for tuberus sclerosis Mutations: ARX, SPTAN1, STXBP1, CDKL5

Answer 7

absence of corpus collosum infantile spasms chorioretinal lacunae --> vision impairment microcephaly

Answer 8

Childhood onset Usually 2-8 years May evolve from West syndrome, or be previously normal Clasically multiple seizure types, periods of non convulsive status Multiple (hundreds) seizures/day - including drop attacks (helmet) EEG: slow spike wave <2.5hx Profound retardation

Answer 9

severe myoclonic epilepsy of infancy presents in 1st year of life prolonged, febrile or afebtrile , hemiclonic GTC seizures - but not limited to one side Related to fever, hyperthermia- hot baths, illness, vaccination Main mutations: SCN1A (less commonly-SCN2A) Can also lead to gefs +

Answer 10

Spectrum includes Dravet syndrome, up to 75% SCN1A positive AD inheritance Mutation itself doesnt predict phenotype Febrile siezures continue >6 years GTC in adolescence then remission May have other seizure types

Answer 11

onset 4-10 years focal sensorimotor seisures from sleep involve face and tongue, may progress to GTC Normal exam, development may be mildly affected Most have infrequent seizures, 20% single seizure Rx: nil or carbomazepine (low dose)

Answer 12

Odd numbers = left Even numbers = right F= frontal C= central T= temporal O= occipital hz= number of waves between green markers (per 1 second)

Answer 13

Staring spells ~10 seconds Abrupt cessation of activity, motionless blank stare, ends abruptly, not aware of event Peak 5-6 years Normal IQ and development, but may have social and learning difficulties EEG: 3Hx spike wave **provoked by hyperventilation ** Rx: ethosuxamide, valproate Second line: lamotrigine AVOID carbamazepine Some patients go on to have JME Most remit in adolescence

Answer 14

Absence seizures, multiple/day <5 Onset 8-20 years, peak ~10 years c. Long duration of absences May have non convulsive status More likely to have GTC (80%) Investigations a. EEG similar to CAE; polyspikes more common Rx: females: lamotrigine males: valproate NOT ethosuxamide as more GTC seizures here less likely to remit than CAE

Answer 15

Age onset 8-26, peak 12-16 years Lifelong epilepsy Early morning myoclonic jerks, (eg drop breakfast, hairbrush, toothbrush) 90% have GTC, up to 30% absence EEG: 4-6Hzz polyspike wave - provoked by photic stimulation 1st line- vaproate, lamotrigine Again, avoid carbamazepine which aggrevates absence and myoclonic seizures

Answer 16

1.focal , no change in awareness Often aura 2.focal with change in awareness - behavioral arrest, unresponsiveness - automatisms- mouth and hand - more prolonged absence than absence seizures , longer post ictal peirod - usually amnesic for seizure, may recall aura most common type of focal epilepsy most commonly caused by hippocampal sclerosis (prev long febrile seizure), also trauma, infection, hamrtoma, glial tumor Must do MRI- check for hippocampal sclerosis or another cause Ammenable to surgery- cut out affected badness

Answer 17

Clusters of motor seizures often nocturnal - bizzare complex motor activity Brief <30 sec Minmal post ictal confusion often bicycling automatisms facial swollowing, chewing, hypersalivation prominant vocalisation common clue- stereotyped for each patient DDX- night terror (but much older kids), occurs most nights and brief compared to night terrors

Answer 18

Acquired epileptic aphasia Regression in expressive language, seizures change in personality/behavior EEG: continuous status epilepticus in sleep Difficult to treat

Answer 19

babies only in sleep multifocal - not just one limb stops with gentle pressure

Answer 20

Stereotypes, brief, repetitive, sudden movements Motor or vocal Many /day Able to suppress for variable periods May change over time M>>F Median onset 6-7 years Wax and wane, most reduce by adulthood Rx: reassurance, clonidine if QOL affected

Answer 21

Mutations in ion channel genes, in particular CACNA1A, have been implicated in familial hemiplegic migraine (FHM) and in the development of concussion-related symptoms in response to trivial head trauma.

Answer 22

progressive cerebrovascular occlusive disease of the bilateral internal carotid arteries that leads to a compensatory abnormal vascular network at the base of the brain. presents as ischemic stroke, TIA, headaches, aphasia, cognitive decline

Answer 23

Malignant hyperthermia is a syndrome which is usually inherited as an autosomal dominant trait. It occurs in all patients with central core disease but is not limited to that particular myopathy. Acute episodes are precipitated by exposure to general anaesthetics and occasionally to local anaesthetic drugs. Patients suddenly develop extreme fever, rigidity of muscles, and metabolic and respiratory acidosis; the serum CK level rises to as high as 35,000 IU/L. Myoglobinuria may result in tubular necrosis and acute renal failure.

Answer 24

Metachromatic leukodystrophy- white matter hyperintensities around both front and back of lateral horns Adrenoleukodystrophy- bilateral parieto-occipital periventricular white matter hyperintensities (back of lateral horns) Leigh sryndrome- bilateral symmetric areas of T2 hyperintensite in basal ganglia and brainstem

Answer 25

children <2 years (hepatotoxicity if there is an underlying metabolic syndrome) or in girls of child bearing age can be used for both focal and generalised seizures

Answer 26

Dravet syndrome absence epilepsy juvenile myoclonic epilepsy children of Han Chinese descent- SJS In general, dont use for any generalised epilepsy. Only use for focal epilepsies

Answer 27

vasogenic oedema headache seizures confusion/altered mental status vision loss (cortical blindness) **hypertension** **usually subacute presentation** RISK FACTORS: severe hypertension renal failure immunosuppressive medications such as tacrolimus and cyclosporin chemotherapy hypomagnesemia post-transplant MRI: hyperintensity in occipital (posterior) lobes

Answer 28

persistent change in mental status from baseline lasting more than 5 minutes, generally with epileptiform activity seen on EEG monitoring and subtle or no motor abnormalities

Answer 29

Acute encephalopathy Hyperammonianemia

Answer 30

thrombus in the dural venous/cavernous sinuses Presentation: severe headaches, weakness, seizures, raised ICP (headache, vomiting, papilloedema) CNS defects due to the intracranial nerves that pass through the cavernous sinus - III, IV, V (V1 and V2), VI can lead to haemrrhagic stroke most often caused by head and neck infections and sepsis thrombophilia, chronic inflammatory disease, sickle cell anemia, cocp, etc Cavernous sinus thrombosis: Eye findings are nearly universal (90%). These include periorbital edema, lid erythema, chemosis, ptosis, proptosis (due to impaired venous drainage of the orbit), restricted or painful eye movement, and less commonly papilledema. Can lead to blindness Most common CN palsy- CN 6 resulting in partial ophthalmoplegia with limited eye abduction. Most cases, however, progress rapidly to complete external ophthalmoplegia from third, fourth and sixth cranial neuropathy. Internal ophthalmoplegia results in a nonreactive pupil, from paralysis of the iris and ciliary body, either constricted (miosis) from loss of sympathetic fibers from the short ciliary nerves or dilated (mydriasis) from loss of parasympathetic fibers from cranial nerve III. Cerebral venous thrombosis: adache, seizures, decreased level of consciousness, and focal neurologic deficits.

Answer 31

fatigue, impaired cognition, altered mood and behavior, suicide risk Vagibatran and keppra can cause depresion and psuchosis lamotrigine and gabapentin can stabilise mood' Na channel- headache, nausea, dissiness, fatigue, ataxia Rash

Answer 32

Lamotrigine most associated with SJS - need to titrate slowly Carbamazepine most associated with SJS in Han Chinease- need to test for HLA B1502 (as phenytoin)

Answer 33

Lamotrigine VPA most associated with neural tube defects, congenital heart disease, cleft palate

Answer 34

Levetiracetam Gabapentin Vabigatrin Topiramate

Answer 35

Carbamazepine Valproate Lamotrigine Diazepam Phenytoin Phenobarb

Answer 36

valproate good for all types including absence **keppra ineffective for absence

Answer 37

VALPROATE, Carbamazepine, gabapentin, vigabatrin, clobazam Weight neutral: lamotrigine, keppra, phenytoin

Answer 38

Topiramate

Answer 39

Carbamazepine Phenytoin Lamotrigine Topiramate Valproate

Answer 40

Ethosuximide Gabapentin and pregabalin to lesser degree

Answer 41

Phenobarbitone Valprotate BZD Clobazam Vigabitran

Answer 42

Unknown Binds to synaptic vesicle protein SV2A Main side effects are neuropsychiatric

Answer 43

binds to voltage dependant sodium channels-- extends the inactivated phase, inhibits action potential (sodium channel blocker) Metabolised in the liver by CYP3A4 Inducer of the CYP system

Answer 44

carbamazepine toxicity (as valproate, a CP450 inhibitor, reduces clearance and increases concentration of carbemazepine) Reduced valproate effect and possible toxicity dye to toxic metabolites (as carbomazepine is a cP450 inducer, so increases breakdown of valproate)

Answer 45

Valproate is a cP450 inhibitor thus it will reduce clearance, and increase concentration of lamotrigine risk lamotrigine toxicity

Answer 46

Valproate is a cP450 inhibitor thus it will reduce clearance, and increase concentration of phenytoin/phenobarbitone - toxicity Phenytoin and phenobarbitone are both cp450 inducers so increase clearance of valproate, possibly reducing valproate effect

Answer 47

carbamazepine phenytoin phenobarbitone

Answer 48

Valproate Increases risk of toxicity of : lamotrigine carbomazepine phenytoin phenobarbitone when combined with these

Answer 49

N/V diarrhoea hyponatremia RASH - most common side effect fluid retention, weight gain drowsiness, diziness, blurred vision, lethargy, headache SJS- especially with Han chinese ancestory (cjeck HLAB1502 allele) Bone marrow suppression/leukopenia/aplastic anemia teratogenic

Answer 50

Vagibatrin causes constriction of visual field (loss of peripheral vision) - irreversible

Answer 51

Sodium channel blocker Increases brain GABA concentrations Weak calcium channel blocker as a result of multiple mechanisms of action, is a broad spectrum medication used for both focal and generalised seizures cytochromte p450 inducer- so increases levels (can lead to toxicity) of AEDs that are metabolised in the liver

Answer 52

N/V Hair loss thrombocytopenia, easy bruising tremor dizziness Pancreatitis weight gain (worst of all AEDs) risk of liver failure if <2 years, mitohondrial disorders, especially if using multiple AEDs

Answer 53

Solmonence dissiness agitation anxiety irritability depression

Answer 54

Carbemazepine, topiramate, phenytoin lowers effectiveness of OCP OCP increases metabolism of lamotrigine - reduces its levels

Answer 55

Na channel blocker Enhances activity of GABA NMDA glutamate receptor antagonist Mostly eliminated in urine, only metabolised in liver to small degree

Answer 56

cognitive impairment sedation fatigue dissiness mood problems/depression metabolic acidsis kidney stones weight LOSS

Answer 57

Genetalised tonic clonic Absence seizures Myoclonic seizures

Answer 58

2-5% of children 6 months - 6 years (peak 18 months)

Answer 59

age <1 years brief duration of fever prior to seizure onset low grade fever first degree relative with febrile seizures

Answer 60

1-2% only slightly higher compared to baseline risk

Answer 61

postinfectious encephalomyelitis- demyelinating disease of CNS Usually a viral trigger Prodrome- fever, malaise, headache, N/V--> followed by rapidly progressive encephaopathy with behavioral change/altered consciousness presents with multifocal neurological symptoms and encephalopathy - motor deficits, hemiparesis - pyramidal signs -ataxia -cranial nerve signs -seizures - spinal cord involvement - optic neuritis -transverse myelitis Ix: MRI brain, spine - white matter abnormalities, bilateral, multifocal but asymmetric- in white matter, basal ganglia, cerebellum, brainstem, spinal cord (lots of random white patches in the brain) CSF: mild pleocytosis, oligoclonal bands uncommon 60% is MOG positive DDX: acute viral encephalitis- cannot distinguish clinically so must treat MELAS Organic aciduria Other autoimmune disease causing CNS vasculitis- SLE, Behcets, sarcoidosis HLH MS Malignancy DIAGNOSIS OF EXCLUSION- R/O INFECTION, MS, NMOD, MOG ASSOCIATED DISEASE Rx: methylpred IVIG if poor response to steroids Abx + antivirals first! cannot distringuish this from viral or bacterial encephalitis Most make a full recovery in 1-6 months Mild ongoing neurocognitive deficits not uncommon- attention, executive function

Answer 62

Altered mental status >24 hours + 2 of - fever - new onset seizures - new onset focal neurology - CSF WCC >5/mm3 -neuroimaging consistent with encephalitis - abnormal EEG exclusion of truama, metabolic abnormalities, tumor, sepsis etc most commonly infectious ~65%- enterovirus, parechovirus, bacterial, influenza, HSV 25% immune mediated- ADEM, anti-NMDAR encephalitis

Answer 63

inflammatory, demyelinating lesion of the spinal cord usually span multiple vertebral segments (span both sides) loss of spinal cord function over hours- weeks back pain muscle weakness - bilateral abdnormal sensation --> paralysis urinary retention loss of bowel control acutely reduced reflexes (spinal shock) --> hyperreflexia and spasticity over time Ix: MRI spine to exclude compression --> central T2 hyperintense spinal cord lesion extending over more than two segments MRI brain always check NMO and MOG antibodies Rx: IV methylpred IDC if urinary retention Up to 80% have good outcome

Answer 64

Disordered breathing pattern. During wakefulness, patients have periods of hyperventilation followed by hypoventilation and/or apnoea (lasting 20-120secs). Breathing is normal in between episodes.

Answer 65

Spastic diplegia

Answer 66

Central core myopathies are transmitted as either an autosomal dominant or recessive trait and are caused by the same abnormal gene at the 19q13.1 locus. Mutations in this gene are also the cause of malignant hyperthermia. Infantile hypotonia, proximal weakness, muscle wasting, and involvement of facial muscles and neck flexors are the typical features in both the dominant and recessive forms. Contractures of the knees, hips, and other joints are common, and kyphoscoliosis and pes cavus often develop. There is a high incidence of cardiac abnormalities. The course is not progressive, except for the contractures. The disease is characterised pathologically by central cores within muscle fibres in which only amorphous, granular cytoplasm is found with an absence of myofibrils and organelles (as per the slide shown). Central core disease is consistently associated with malignant hyperthermia, which can precede the diagnosis of central core disease.

Answer 67

Bell's palsy is a form of facial paralysis resulting from a dysfunction of the cranial nerve VII (the facial nerve) that results in the inability to control facial muscles on the affected side. It is thought that an inflammatory condition leads to swelling of the facial nerve The facial nerves control a number of functions, such as blinking and closing the eyes, smiling, frowning, lacrimation, salivation, flaring nostrils and raising eyebrows They also innervate the stapedial (stapes) muscles of the middle ear and carry taste sensations from the anterior two thirds of the tongue. The glossopharyngeal nerve is associated with taste sensation to the posterior third of tongue.

Answer 68

inflammatory demyelinating disorder of the optic nerve that causes visual field loss often para/post infectious Optic neuritis can be isolated or a part of ADEM, TM, NMO If bilateral, severe or recurrent, think MOG Ix: MRI brain to exclude other causes Presentation - visual loss over hours- days, eye pain especially with movement Rx: methylpred

Answer 69

autoimmune condition causing damage to both optic nerves and spinal cord - severe attacks of both optic neuritis and transverse myelitis - rare in kids, more common in early adulthood - relapsing course often leads to severe disability often aquaporin 4 positive

Answer 70

attacks of immune mediated demyelination, especially of optic nerves, brain and spinal cord antibodies against Myelin Oligodendrocyte Gluycoprotein (MOG) Presents as acute attacks of unilateral or bilateral optic neuritis, leading to visual loss, ADEM, transverse myelits Attacks usually preceded by infection or vaccination - can be monophasic or relapsing (thus important to check MOG antibodies with every presentation of ON, TM, ADEM) Rx: IV methylpred +/- IVIG 3 month steroid taper to reduce risk relapse

Answer 71

Multiple episodes of CNS demyelination separated in time and space (must be >30 days apart, usually within 2 years, and involve more than one area of the CNS) Usually presentation as optic neuritis, transverse myelitis, ataxia, vertigo, bowel or bladder dysfunction (seizures rare) ENCEPHALOPATHY RARE- think ADEM or NMO but- can also be one episode of ADEM followed by non encephalopathic CNS event OR one non encephalopathic CNS event + follow up MRI with findings of at least 1 new lesion OR if >12 years, one non encephalopathic event with MRI findings consistent with other lesions being disseminated in space and time More common in adolescents, F>M Ix: CSF WCC <50, oligolonal bands often present MRI: T1 hypointense, T2 hyperintense lesions Rx: methelpred Capaxone Natilizumab

Answer 72

Previously thought to be subset of MS, now own disease Inflammatory, demyelinating disease, with severe attacks of optic neuritis and transverse myelitis (often longitudinally extensive, often cervical and thoracic cord)- often concurrent but can be separated by weeks AQP-4 antibodies (bind to AQP4 protein on astrocytes leading to necrosis)- serum levels correlate with disease activity Poor prognosis- 50% chance of blindness or wheelchair dependancy at 5 years TRIAD= AQP4 antibody positive, optic neuritis, longitudinally extensive transverse myelitis Ix: AQP4 antibodies present MRI- cavitating lesions (usually develop later, MRI normal initially) Rx: high dose methylpred with long taper IVIG/plasma exchange if steroid unresponsive Immunomodulation (long term)- mycophenolate, rituximab if fail MMF therapy

Answer 73

Prodrome of fever and headache Behavior change, psychiatric presentation - psychosis, hallucinations aggression, catatonia Diskineasia (esp orofacial) Repetitive movements Speech deficit Seizures Autonomic instability Decreased LOC Sleep disturbances Ix: CSF pleocytosis, oligoclonal bands often positive NMDA receptor antibodies (IgG) positive in CSF (activate NMDAR- excitatory neurotransmission) USS pelvis for underlying ovarian teratoma Rx: tumor removal if ovarian teratoma present High dose methylpred with long oral taper + IVIG or plasma exchange or Rituximab for 3 weeks Symptom control - anticonvulsants, BZDs, clonidine

Answer 74

X linked adrenoleukodystrophy presents at three-ten years of age, with peak incidence at age seven years. Children present with behavioural problems and learning difficulties which are often misdiagnosed as ADHD. Adrenal failure occurs in most, but not all, cases. 20% of boys will develop seizures. There is a gradual neurological deterioration which can lead to quadriparesis and blindness. Female carriers can also be symptomatic, usually over the age of 30 years. Less than 20% of female carriers under 40 years are symptomatic but 90% over 60 years are symptomatic. Gait disturbance is the most common problem which may be misdiagnosed as MS. Adrenal involvement in female carriers in uncommon.

Answer 75

life-threatening neurologic emergency associated with the use of antipsychotic (neuroleptic) agents and characterized by a tetrad of : 1.mental status change, 2. rigidity, 3. fever, and 4. dysautonomia. Mental status change is commonly agitated delirium. Extreme muscle rigidity and tremor. Tachycardia, tachypnoea, labile blood pressure Often very elevated CK --> AKI Most commonly with 1st gen antipsychotics but can occur with any. Rx: stop offending drug. Supportive (treat AKI/rhabdo with lots of IV fluids, treat BP with nitroprusside, cool with cooling blankets/ice packs, BZDs for agitation , bromocriptine (dopamine agonist)

Answer 76

Acute, monophasic, demyelinating polyneuropathy Sensory and motor nerves affected Progressive ascending bilateral paralasis of legs --> arms --> torso and respiraotry muscles Reduced tendon reflexes Pain or refusal to walk often presenting feature in kids Often proceeding infection 3-6 weeks prior Symptoms peak at 7-10 days Associated autonomic dysfunction - bladder incomplete emptying. contipation, HTN, tachycardia Ix:CSF- may have elevated protein Nerve conduction studies Rx: IVIG or PLEX? Prognosis- almost all regain ability to walk

Answer 77

Descending flaccid paralysis TOXIN DISRUPTS EXOCYTOSIS Infant botulism results from intestinal colonisation by Clostridium botulinum, which produces a neurotoxin that blocks presynaptic cholinergic transmission, affecting skeletal and smooth muscle and autonomic function. The clinical features result from progressive neuromuscular blockade and range from mild to severe. Muscles innervated by the cranial nerves are affected first, followed by those of the trunk, extremities, and diaphragm. Infants typically present with constipation and poor feeding. This presentation is followed by progressive hypotonia, and weakness. Cranial nerve dysfunction is manifested by decreased gag and suck, diminished range of eye movement, pupillary paralysis, and ptosis. Autonomic signs include decreased tearing and salivation, fluctuating heart rate and blood pressure, and flushed skin.

Answer 78

Occurs approx 7 years after measles infection progressive neurological deterioration-, characterized by behavior change, intellectual problems, myoclonic seizures, blindness, ataxia, and eventually death

Answer 79

Intervertebral discitis is the term used for the association of back pain, progressive loss of intervertebral disk height, and erosion of adjacent vertebral end-plates usually in lumbar regions (as in this case). Symptoms in patients with intervertebral discitis vary with age, and a high index of suspicion is required to establish the diagnosis. Very young children may simply be fussy and refuse to eat. Toddlers may cease walking. Older children and adolescents complain of back, abdominal, or pelvic pain. The physical findings in a child with a disk space infection are usually characteristic. The child maintains the spine in a straight, stiff, or splinted position and refuses to flex the lumbar spine. The normal lumbar lordosis is reversed, and there may be paravertebral muscle spasm. Fever is variable, and the systemic white blood cell count may be only mildly elevated. The ESR is usually elevated. The differential diagnosis includes vertebral body osteomyelitis which is associated with an older age at onset (7 years vs 2 years), longer duration of illness (33 vs 22 days), and the presence of fever, leukocytosis and bone destruction.

Answer 80

acquired epileptic aphasia syndrome which occurs in children who previously had acquired language. It usually presents with infrequent seizures, a regression in previously acquired language and verbal agnosia). Children often get misdiagnosed with autism spectrum disorder. The EEG is very active with continuous epileptic activity (electrical status epilepticus) in sleep.

Answer 81

Aspririn to reduce the number of stroke like episodes

Answer 82

primary disorder of excessive daytime sleepiness. Narcolepsy often presents with symptoms in adolescence, but usually goes unrecognised and undiagnosed until adulthood. In about 25% of cases, there is a family history of narcolepsy; secondary narcolepsy following brain injury or in association with other medical illnesses may also occur. The cardinal and usual initial presenting feature of narcolepsy is repetitive episodes of profound sleepiness that may occur both at rest and during periods of activity (talking, eating). These sleep attacks may be very brief (microsleeps), resulting primarily in lapses in attention and in mood disturbances. Thus, patients with narcolepsy may be initially misdiagnosed with a psychiatric disorder, such as ADHD or depression. Other features that may occur in narcolepsy include cataplexy (sudden loss of partial or total body muscle tone, usually in response to an emotional stimulus); hypnagogic (at sleep onset) and/or hypnopompic (on waking) = “threshold consciousness" phase including lucid dreaming, visual, auditory, or tactile hallucinations; and sleep paralysis (temporary loss of voluntary muscle control) at sleep onset or offset. The "gold standard" of diagnosis is an overnight PSG followed by a multiple sleep latency test. This test involves a series of 4-5 opportunities to nap (20 min long) during which narcoleptics demonstrate a pathologically shortened sleep onset latency as well as periods of REM sleep occurring immediately after sleep onset. Rx: sodium oxybate, methylphenidate, modafinil The classic tetrad of narcolepsy type 1 symptoms is EDS, cataplexy, hypnagogic hallucinations, and sleep paralysis. The severity of attacks ranges from a slight head or shoulder drop (partial cataplexy) to buckling of the knees and sudden collapse to the floor (full cataplexy).

Answer 83

A. Central core myopathy presents with infantile hypotonia, proximal weakness, muscle wasting, and involvement of facial muscles and neck flexors. Contractures of the knees, hips, and other joints are common, . The course is nonprogressive, except for the contractures. The disease is characterised pathologically by central cores within muscle fibres in which only amorphous, granular cytoplasm is found with an absence of myofibrils and organelles. Histochemical stains show a lack of enzymatic activities of all types within these cores. The serum CK value is normal in central core disease except during crises of malignant hyperthermia .

Answer 84

Deficiency in acid alpha glycosidase (acid maltase) that hydrolyses lysosomal glycogen Severe generalised myopathy and cardiomyopathy. Patients have cardiomegaly and hepatomegaly and are diffusely hypotonic and weak. The serum CK level is greatly elevated. A muscle biopsy specimen reveals a vacuolar myopathy Ix: reduced acid alpha glucosidase activity Genetic sequencing of GAA gene Rx: enzyme replacement therapy (ERT) with alglucosidase alfa.

Answer 85

Myotonic dystrophy Ctg repeat

Answer 86

Germinal matrix haemorrhage only or germinal matrix haemorrhage plus intraventricular haemorrhage less than 10% of ventricular area. II. Intraventricular haemorrhage, 10-50% of ventricular area. III. Intraventricular haemorrhage involving more than 50% of the ventricular area; lateral ventricles are usually distended. IV. Parenchymal bleed in any location and amount. IVH generally arises from the germinal matrix, which is in the caudothalamic groove.

Answer 87

Fragile X. Fragile X syndrome is a genetic disorder caused by an alteration in the X chromosome. It results in a wide range of developmental, physical and behavioural problems, and is the most common known cause of inherited intellectual disability. Women who are carriers may experience Fragile X-associated primary ovarian insufficiency which causes early menopause. Male carriers over the age of 50 have a 20-40% chance of developing Fragile X Tremor Ataxia Syndrome (FXTAS). This is a neurological condition similar to Parkinsons Disease, and may involve (ataxia), intention tremor, and memory problems.

Answer 88

Hyperventilation for 3 minutes with provoke an absence in as many as 90% of children with childhood absence epilepsy who are not on medication. Although childhood absence epilepsy is associated with automatisms in 2/3, dribbling is not a usual automatism. There is no post-ictal phase following an absence seizure.

Answer 89

hirsuitism gum hypertrophy inhibition of folate absorption --> macrocytic anemia nystagmus ataxia nausea/vomiting

Answer 90

Sodium valproate

Answer 91

Discitis is inflammation of the intervertebral disc is a rare condition. Disc biopsy is not necessary for diagnosis, but if it is done then >80% grow bacteria (usually staph aureus). This typically occurs between 4 and 10 years of age and the lower lumbar discs most commonly affected. This is difficult to diagnose in young children and it usually presents with gradual onset of irritability and back pain, limp or refusal to crawl or walk. The child is systemically well but can have a low grade fever. It can present with abdo pain +/- vomiting. Symptoms are usually present for a few weeks prior to diagnosis. On examination, you may not refusal to bend forward, percussion tenderness over the involved spine, hip pain and stiffness, loss of lumbar lordosis, neurologic findings (weakness, decreased reflexes), ileus. If there are fever and acute signs, then think osteomyelitis rather than discitis. Investigations: Blood culture WCC (generally normal) ESR (generally elevated) Xray - narrowing of intervertebral space, destruction of adjacent vertebral end plates, herniation of nucleus pulpous Bone scan - diagnostic but may be normal early in illness MRI - imaging of choice, shows extent of inflammation, involvement of disc and adjacent vertebral end plates Management: IV antibiotics until clinical improvement Cover for Staph aureus and Kingella kingae (e.g. clindamycin, vancomycin) and a third generation cephalosporin (e.g. cefotaxime, ceftriaxone)

Answer 92

Absence seizures presenting under the age of four is unusual and raises the question of Glut1 deficiency disorder. This should be investigated by either a lumbar puncture or genetic testing for mutations in the SLC2A1 gene. Anti-epileptic medication should be started.

Answer 93

Asparaginase

Answer 94

Clinical Features: • Altered mental status (Either lethargy, confusion, or agitation) • Seizures (Generalized > focal) • Headache (Typically constant, global, and refractory) • Vision changes (acuity, visual field deficits, hallucinations, cortical blindness) Risk Factors: • Hypertensive emergency • Preelampsia / Eclampsia • Immunosuppressive / Immunomodulatory meds: Cyclosporine, Cisplatin, Tacrolimus, VEGF inhibitors • Renal failure • Autoimmune disease Diagnosis:

Answer 95

. Friedreich ataxia is inherited as an autosomal recessive disorder involving the spinocerebellar tracts, dorsal columns in the spinal cord, the pyramidal tracts, and the cerebellum and medulla. The onset of ataxia is somewhat later than in ataxia-telangiectasia but usually occurs before age 10 years. The ataxia is slowly progressive and involves the lower extremities to a greater degree than the upper extremities. Patients develop a characteristic explosive, dysarthric speech, and nystagmus is present in most children. Typically noted is a marked loss of vibration and position sense caused by degeneration of the posterior columns and indistinct sensory changes in the distal extremities. Friedreich ataxia is also characterised by skeletal abnormalities, including high-arched feet (pes cavus) and hammertoes, as well as progressive kyphoscoliosis. Loss of deep tendon reflexes Also T1DM and hearing loss Hypertrophic cardiomyopathy

Answer 96

. Leigh diseaseis a mitochondrial encephalomyopathy. Signs of brain and muscle dysfunction (seizures, weakness, ptosis, external ophthalmoplegia, psychomotor regression, hearing loss, movement disorders, and ataxia) in association with lactic acidosis are prominent features of mitochondrial disorders. Cardiomyopathy and diabetes mellitus can also result from mitochondrial disorders. Leigh disease is a progressive degenerative disorder, and most cases become apparent during infancy with feeding and swallowing problems, vomiting, and failure to thrive. Delayed motor and language milestones may be evident, and generalised seizures, weakness, hypotonia, ataxia, tremor, pyramidal signs, and nystagmus are prominent findings. Intermittent respirations with associated sighing or sobbing are characteristic and suggest brainstem dysfunction. Some patients have external ophthalmoplegia, ptosis, retinitis pigmentosa, optic atrophy, and decreased visual acuity. Abnormal results on CT or MRI scan consist of bilaterally symmetric areas of low attenuation in the basal ganglia and brainstem as well as elevated lactic acid on MR spectroscopy. Elevations in serum lactate levels are characteristic and hypertrophic cardiomyopathy, hepatic failure and rental tubular dysfunction can occur. The overall outlook is poor, but a few patients experience prolonged periods of remission.

Answer 97

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). These children present with developmental delay, weakness and headache, as well as focal signs that suggest a stroke. Brain imaging indicates that injury does not fit within the usual vascular territories.Children with MELAS may be normal for the first several years, but they gradually display delayed motor and cognitive development and short stature. The clinical syndrome is characterised by: recurrent stroke-like episodes of hemiparesis or other focal neurologic signs; lactic acidosis, ragged red fibers (RRF), or both; and at least two of - focal or generalised seizures, dementia, recurrent migraine headaches, and vomiting. Cerebrospinal fluid protein is often increased. Neuropathology may show cortical atrophy with infarct-like lesions in both cortical and subcortical structures, basal ganglia calcifications, and ventricular dilatation.

Answer 98

This is an autosomal recessive white matter disease caused by a deficiency of arylsulfatase A (ASA), which is required for the hydrolysis of sulfated glycosphingolipids. The clinical manifestations of the late infantile form of MLD, which is most common, usually present between 12 and 18 months of age as irritability, inability to walk, and hyperextension of the knee, causing genu recurvatum. The clinical progression of the disease relates to the pathological involvement of both central and peripheral nervous system, giving a mixture of upper and lower motor neuron and cognitive and psychiatric signs. Deep tendon reflexes are diminished or absent. Gradual muscle wasting, weakness, and hypotonia become evident and lead to a debilitated state. As the disease progresses, nystagmus, myoclonic seizures, optic atrophy, and quadriparesis appear, with death in the first decade of life

Answer 99

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene are found in self-limiting and familial infantile seizures.

Answer 100

Juvenile myoclonic epilepsy has been linked to the gamma-aminobutyric acid (GABA) A receptor alpha 1 subunit (GABRA1) gene and other GABA receptor mutations.

Answer 101

Sodium channel blocking agents such as carbomazepine, Lamotrigine and Phenytoin should generally be avoided due to their potential to worsen seizure

Answer 102

Raised ICP is an absolute contraindication to LP. Because of the risk of subdural or epidural haematoma formation, we generally do not perform LPs in patients with coagulation defects who are actively bleeding, have severe thrombocytopenia (e.g. platelet counts <50,000/microL), or an INR >1.4, without correcting the underlying abnormalities. Signs of raised ICP: Papilleodema - however, papilloedema may be absent in acute ICP elevations because it takes several days to become apparent, and is not invariably present in patients with intracranial hypertension. Retinal hemorrhages may be present in patients with increased intracranial pressure Infants with elevated ICP may develop macrocephaly, split sutures or a bulging fontanel. With hydrocephalus, a "sun setting" appearance of the eyes appears. Children of any age may have a dilated pupil, usually on the side of the lesion. Cranial nerve palsies of the third, fourth, and sixth cranial nerves can occur, with third nerve palsy being most common. The level of consciousness can range from irritability to obtundation or coma. Hemiparesis, hyperreflexia, and hypertonia are late signs. The constellation of systemic hypertension, bradycardia, and respiratory depression (Cushing triad) is another late sign, and may be a preterminal event. Hypotension would indicate that the patient was cardiovascularly compromised, hence the need to stabilise the patient first with fluids, inotropes etc

Answer 103

Lennox-Gastaut syndrome Lennox-Gastaut syndrome has diffuse <2.5-Hz generalised sharp-and-slow wave discharges and paroxysms of fast activity.

Answer 104

absence seizures are differentiated by 3-Hz generalised spike-and-slow wave, often with repetitive trains of discharges, and especially during hyperventilatio

Answer 105

Hypsrytthmia

Answer 106

Landau-Kleffner syndrome shows unilateral or bilateral temporal-parietal or centrotemporal spikes and sharp waves with fields that spread to apparent generalised spike wave pattern and becomes almost continuous when asleep (hence status epilepticus). Epileptic encephalopathy with continuous spikes and waves during sleep (CSWS) can also demonstrate this EEG feature. CSWS requires regression in two or more domains (as opposed to Landau-Kleffner which presents as language regression/aphasia). Finally, centrotemporal spikes can be a genetic trait in a typically developing child

Answer 107

Gastaut syndrome can be mistaken for migraine but has EEG changes similar to Panayiotopoulos syndrome. Unlike Panayiotopoulos syndrome, seizures occur during the day and EEG changes are activated by eye closure.

Answer 108

Juvenile myoclonic epilepsy usually begins between the ages of 12 and 16 years and accounts for approximately 5% of the epilepsies. Patients note frequent myoclonic jerks on awakening, making hair-combing and tooth-brushing difficult. As the myoclonus tends to abate later in the morning, most patients do not seek medical advice at this stage and some deny the episodes. A few years later, early morning generalised tonic-clonic seizures develop in association with the myoclonus. The EEG shows a 4–6/sec irregular spike and wave pattern, which is enhanced by photic stimulation. The neurologic examination is normal, and the majority respond dramatically to valproate, which is required lifelong. Discontinuance of the drug causes a high rate of recurrence of seizures. The symptoms of morning jerks along with the classic EEG pattern are indicative of juvenile myoclonic epilepsy

Answer 109

Medulloblastoma is the most common brain tumour in childhood and occurs in the cerebellum. It most commonly presents with nausea, vomiting, ataxia, and drowsiness. A GBM would present with a shorter history - usually a couple of weeks of headaches or vomiting. Astrocytomas are usually hypodense on CT whereas a medulloblastoma is hyperdense. Ependymomas are typically heterogeneous masses with areas of necrosis, calcification, cystic change and haemorrhage frequently seen.

Answer 110

: Viral myositis ranges from mild myalgia to benign acute childhood myositis to viral myositis with rhabdomyolysis. There is marked pain and tenderness, usually localised to calves, ankles are held in plantar flexed position and resist dorsiflexion due to pain. Patients often refuse to walk to due pain or true muscle weakness. CK is up to 20-30 times normal. Myoglobinuria and renal failure do not occur. Biopsy shows muscle necrosis and muscle fibre regeneration with mild infiltration with polymorphonuclear or mononuclear lymphocytes. Full recovery in 3-10 days, with resolution of elevated muscle enzymes within three weeks. Most commonly associated with influenza A and B infections.

Answer 111

Intraventricular haemorrhage (IVH) in newborns occurs more frequently the lower the gestational age. It is most frequent in <32 weeks gestation or birth weight <1500g. Additional risk factors include chorioamnionitis, lack of prenatal steroids, prolonged neonatal resuscitation, respiratory distress syndrome. IVH is generally from the germinal matrix (a highly cellular and richly vascularised layer in the subependymal, subventricular zone that gives rise to neurons and glia during fetal development) At 32 weeks, the germinal matrix is present at the caudothalamic groove. Presentation of IVH may be clinically silent (25-50%), subtle or catastrophic. Most occur in the first five days after birth. All infants <30 weeks or <1500g birth weight should be screened with ultrasound at 7-4 days and again at 36-40 weeks corrected. Suspect IVH in any infant ≥30 weeks who shows signs of altered neurologic or respiratory status. Assessing the severity of intraventricular haemorrhage on cranial ultrasonography: Grade - description on parasagittal view I. Germinal matrix haemorrhage only or germinal matrix haemorrhage plus intraventricular haemorrhage less than 10% of ventricular area. II. Intraventricular haemorrhage, 10-50% of ventricular area. III. Intraventricular haemorrhage involving more than 50% of the ventricular area; lateral ventricles are usually distended. IV. Parenchymal bleed in any location and amount. IVH generally arises from the germinal matrix, which is in the caudothalamic groove.

Answer 112

botulism is characterized by a descendant flaccid paralysis, tetanus consists in spastic paralysis

Answer 113

DIPG - tumor in pons - cranial nerves 6 and 7 commonly affected - ataxia, hyperreflexia, strabismus, blurred vision, facial weakness, swallowing difficulty rapidly progressive symptoms poor prognosis

Answer 114

characterised by the rapid onset of severe vertigo with nausea, vomiting, and gait instability. Patients have spontaneous vestibular nystagmus that is unilateral, horizontal, or horizontal-torsional, that is suppressed with visual fixation, and that does not change direction with gaze. The fast phase of nystagmus beat AWAY from the affected side. In pure vestibular neuritis, auditory function is preserved; when this syndrome is combined with unilateral hearing loss, it is called labyrinthitis. It is a benign disorder, self-limited, and associated with a complete recovery in most patients.

Answer 115

Ménière's disease is a disorder of the inner ear that can affect hearing and balance to a varying degree. It is characterised by episodes of vertigo and tinnitus, and progressive hearing loss, usually in one ear. 1. periodic episodes of rotary vertigo; 2. fluctuating, progressive, unilateral or bilateral hearing loss 3. unilateral or bilateral tinnitus; 4. a sensation of fullness or pressure in one or both ears.

Answer 116

- Usually occurs after a febrile illness - Most common cause: varicella; but can be many other viruses, and mycoplasma pneumoniae - Usually occurs in children <6 years - Rapid onset and progression of symptoms - Main symptom- gait disturbance, truncal ataxia , nystagmus, slurred speech, vomiting, irritability, headach, tremor, dysmetria, dysdiafdokinesis - Fever, seizures and meningisum are absent. There is no altererd consciousness - Reflexes, power and tone are normal - There is no sensory loss - There are no focal or asymetrical neurological findings

Answer 117

Narcolepsy can be viewed as a disorder of sleep-wake state control in which elements of sleep intrude into wakefulness, and elements of wakefulness intrude into sleep. The net effect is daytime sleepiness with varying amounts of hypnagogic hallucinations, sleep paralysis, and cataplexy. Daytime sleepiness — all patients with narcolepsy have chronic sleepiness. They do not sleep more than normal controls over 24 hours, but they are prone to fall asleep throughout the day, often at inappropriate times. Hallucinations — hallucinations are vivid, often frightening hallucinations that occur as the patient is falling asleep (hypnagogic hallucinations) or upon awakening (hypnopompic hallucinations). These are not due to psychiatric disease, but probably result from a mixture of REM sleep dreaming and wakefulness. Sleep paralysis — sleep paralysis is a complete inability to move for one or two minutes immediately after awakening. This immobility may be accompanied by hypnagogic hallucinations or a feeling of suffocation, perhaps due to slight reductions in tidal volume. These episodes can be quite frightening. Cataplexy — cataplexy is emotionally-triggered, transient muscle weakness. Most episodes are triggered by strong, generally positive emotions such as laughter, joking, or excitement. However, the episodes may be triggered by anger or grief in some individuals. The weakness is often partial, affecting the face, neck, and knees. Severe episodes can cause bilateral weakness and complete collapse. The paralysis typically lasts less than two minutes, and consciousness is intact, which helps distinguish cataplexy from syncope or seizures. Cataplexy develops within three to five years of the onset of sleepiness in 60 percent of people with narcolepsy. Diagnostically, a history of emotionally-triggered, transient weakness is very useful since cataplexy occurs in almost no other disorder. In children and in some adults, the emotional triggers are not always apparent, and the weakness can have an atypical appearance. Cataplexy and sleep paralysis are probably caused by inappropriate activation of the pathways that cause paralysis during REM sleep. The difference is that cataplexy is triggered by positive emotions, while sleep paralysis occurs upon awakening. Insomnia — some patients with narcolepsy spontaneously awaken several times during the night and have difficulty returning to sleep. This insomnia seems paradoxical in an individual with daytime sleepiness, but it may reflect low thresholds to transition between sleep and wakefulness.

Answer 118

low CSF hypocretin 1

Answer 119

descent of cerebellar tonsils and vermis, 4th ventricle almost always in assciated with myelomeningocele

Answer 120

more common presents in childhood/adulthood with pain fatigue or neurological symptoms associated with syringomyelia

Answer 121

motor cortex

Answer 122

mesial temporal lobe

Answer 123

insular cortex

Answer 124

dopamine, noradrenaline, adrenaline, histamine, serotonin

Answer 125

opioids, endorphins, somatostatin, oxytocin, vasopressin

Answer 126

glutamate, GABA, glycine, aspartate, D-serine

Answer 127

increased ICP craniosynestosis hydrocephalus (likely macrocephaly)

Answer 128

diplopia (6th nerve palsy) untreated severe ICP leads to loss of colour vision and loss of peripheral fields

Answer 129

ketogenic diet can mimic CP or epilepsy AD inheritance

Answer 130

urea cycle disorder

Answer 131

antenatal HIE

Answer 132

Amitryptyline Pizotifen Cyproheptadine - in young children Propranolol- contraindicated in asthma Topiramate/valproate/levetiracetam

Answer 133

6th nerve can also get visual field defects

Answer 134

Transaminitis (raised ALP and AST)

Answer 135

Fbe Chem 20 (alt and ast) ammonia CK (DMD and BMD can present with autism or speech/ language delays prior to any muscle involvement) Urine metabolic screen Homocysteine Copper/ceruloasmin TFTs Iron/b12 Lead Microarray Fragile x Mecp2 if mid-severe or regression MRI brain if abnormal neuro exam Audiology and optometry

Answer 136

Cerebellar ataxia Oculomotor apraxia Telangiectasia (look at corners of eyes, ears) Sinopulmunary infections) Dysphagia, dysarthria, dysmetria Ix: elevated AFP, genetics (ATM gene) Risks tumors (solid + leukemia, lymphoma)

Neurology Flashcards

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