Neuro Flashcards

1
Q

Low mood, risk of suicidal ideation

Behavioral side effects 10% - agitating, anxiety, aggression or emotional lability

A

Levetiracetam

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2
Q

Antiepileptic drug side effects:
Kidney stone
Metabolic acidosis
Language impairment

A

Topiramate

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3
Q

Rolandic Epilepsy

Characteristics
EEG pattern
Rx

A

Benign rolandic epilepsy of childhood (BREC)
Benign rolandic epilepsy with centrotemporal spikes (BECTS)

A common syndrome, representing approximately 15% of all epilepsy in children

Seizures that come on when the child is awake involve twitching, numbness, or tingling of one side of the child’s face or tongue without impaired awareness (called a focal aware seizure).
Seizures that come on during sleep often evolve to convulsive activity affecting both sides of the body.
In almost every case, seizures stop on their own by adolescence

Rx
Because the seizures may be infrequent and usually occur at night, many children do not need daily antiseizure medication.
The most commonly used medication islevetiracetam(Keppra).

Ix
EEG (electroencephalogram): Children with CECTs have spikes on their EEG in the centrotemporal regions of the brain. These findings help confirm the diagnosis.
MRI (magnetic resonance imaging): This test is usually normal in children with CECTS. It is often not needed if the history and EEG are very typical

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4
Q

Lennox-Gastaut syndrome

A

Lennox-Gastaut syndrome (LGS) is a severe form of childhood epilepsy with multiple types of seizures.
Type of epileptic encephalopathy = frequent seizures very abnormal EEG
In 1 out of 4 people, no cause can be found.
About 2 to 5% of children with epilepsy have LGS.

Usually, LGS persists through childhood and adolescence to adult years.

Intellectual development is almost always impaired. Behavioral problems, including hyperactivity, agitation, aggression and autism, are common.

EEG and MRI tests are essential in the medical evaluation.
The EEG during wakefulness shows diffuse or widespread background slowing and slow spike-wave bursts. In sleep, a characteristic pattern, termed “generalized paroxysmal fast activity” is seen. This may sometimes correlate with subtle tonic activity.
Genetic and metabolic studies should be done if no cause is found on MRI.

Seizure medications, dietary therapies, implanted devices and surgery can lessen seizures and offer hope and help for people with LGS.
Most common - valporate
Medicines that have proven to reduce seizures in many persons with LGS arelamotrigine,topiramate,felbamate,rufinamide,clobazam,cannabidioland most recentlyfenfluramine.

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.

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5
Q

Panayiotopoulos syndrome

Typical presentation
EEG
Rx

A

Panayiotopoulos syndrome is also a “benign” epilepsy but is typically associated with vomiting overnight. It can be distinguished from rolandic epilepsy by the EEG.

Panayiotopoulos syndrome starts in early childhood with the first seizure occurring between 3 and 6 years old.
Boys and girls are equally affected.
Nearly all children will stop having seizures 2-3 years after the first seizure.

Typically, children will turn pale, complain of feeling sick and often vomit during the seizure. Some children’s eyes may turn to one side, and they may make shaking movements during a seizure.

EEG
Spike discharges most commonly in occipital area
Spikes will often be more frequent when children close their eyes or are not fixating on an object, a phenomenon known as “fixation-off sensitivity.”
Background activity is normal.

MRI usually normal

Seizures in children with PS are often infrequent andantiseizure medicationmay not be needed.

When seizures are more frequent, the seizures can be controlled with antiseizure medications likeoxcarbazepine(Trileptal),carbamazepine(Tegretol or Carbatrol),levetiracetam(Keppra),gabapentin(Neurontin),zonisamide(Zonegran),lacosamide(Vimpat), and others

Seizures can be prolonged, lasting up to 20-60 minutes.

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6
Q

Most commonly due to a stroke in utero or in the neonatal period. This could be associated with: thrombophilic disorders; infection; congenital cause; or periventricular haemorrhagic infarction.

Which type of CP?

A

Spastic hemiplegia

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7
Q

Most commonly due toperiventricular leukomalacia, multicystic encephalomalacia, or malformations. This could be associated with:ischaemia; infection; or metabolic conditions.

Which type of CP?

A

Spastic quadriplegia

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8
Q

Type of CP?

Most commonly found in: putamen; globus pallidus; thalamus; or basal ganglia. Associated with: asphyxia; kernicterus; mitochondrial disorders

A

Choreoathetoid cerebral palsy

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9
Q

major clinical features of tuberous sclerosis:

A

Facial angiofibromas or forehead plaques
Shagreen patch (connective tissue nevus)
Three or more hypomelanotic maculesi.e. ash-leaf macules
Nontraumatic ungula or periungual fibromas
Lymphangioleiomyomatosis (also known as lymphangiomyomatosis)
Renal angiomyolipoma
Cardiac rhabdomyoma
Multiple retinal nodular hamartomas
Cortical tuber
Subependymal nodules
Subependymal giant cell astrocytoma

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10
Q

It is estimated that over 95 percent of patients with Tuberous sclerosis have one of the characteristic skin lesions. The most common lesions are:

A

Hypopigmented macules, also known as ash-leaf spots, which are usually elliptic in shape.

Angiofibromas (sometimes called fibroadenomas; previously called adenoma sebaceum), which typically involve the malar regions of the face.

Shagreen patches, seen most commonly over the lower trunk.

A distinctive brown fibrous plaque on the forehead, which may be the first and most readily recognised feature of TS to be appreciated on physical examination of affected neonates and infants.

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11
Q

Management of acute migraine

A

Management of an acute attack is to provide headache freedom as quickly as possible with return to normal function.

This mainly includes 2 groups of medicines: nonsteroidal antiinflammatory drugs (NSAIDs) and triptans

Most migraine headaches in children will respond to appropriate doses of NSAIDs when administered at the onset of the headache attack. When a migraine is especially severe, NSAIDs alone may not be sufficient. In this case a triptan may be considered.

The most common side effects of the triptans are due to their mechanism of action—tightness in the jaw, chest, and fingers due to vascular constriction and a subsequent feeling of grogginess and fatigue due to the central serotonin effect. The vascular constriction symptoms can be alleviated through adequate fluid hydration during an attack.

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12
Q

When is prophylactic therapy for migraines warranted

Goal and duration of therapy?

A

When the headaches are frequent (≧1/wk) or disabling (missing school, home, or social activities, or a PedMIDAS score above 20), preventive or prophylactic therapy is warranted.

The goal of this therapy should to be to reduce frequency (1-2 headaches or fewer per month) and disability (PedMIDAS <10).

Prophylactic agents should be given for at least 4-6months at an adequate dose and then weaned over several weeks.

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13
Q

Preventive therapies for headache and migraine

A

The most commonly used preventive therapies for headache and migraine are amitriptyline and pizotifen

In very young children, cyproheptadine may be effective in prevention of migraine or the related variants. Young children tend to tolerate the increased appetite induced by the cyproheptadine and tend not to be subject to the lethargy seen in older children and adults; the weight gain is limiting once children start to enter puberty.

β-Blockers have also been used for migraine prevention. The contraindication for use of propranolol in children with asthma or allergic disorders or diabetes and the increased incidence of depression in adolescents using propranolol limit its use somewhat

Antiepileptic medications are more recently commonly used for migraine prophylaxis, with topiramate, valproic acid, and levetiracetam having been demonstrated to be effective in adults.

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14
Q

Normal crying patterns

A

2 hours per day at 2 weeks, 3 hours per day by 6 weeks, Gradually decreases to about 1 hour per day by 3 months.

Birth to 6weeks: 2-3hrs per day.
Second month crying clustered in afternoon and evening.
Four months: 1 hour per day.

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15
Q

Considerations for crying baby

A

Mnemonic for a crying baby - ITCRIES

I-infections

T-trauma

C-cardiac disease

R-reflux,reaction to meds,anal fissure

I-intussusception

E-eyes-corneal abrasion

S-strangulation.Surgical process(hernia)

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16
Q

Kernicterus and hearing loss

Ix?

A

Kernicterus, or bilirubin encephalopathy, is a neurologic syndrome resulting from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei. The pathogenesis of kernicterus is multifactorial and involves an interaction between unconjugated bilirubin levels, albumin binding and unbound bilirubin levels, passage across the blood-brain barrier, and neuronal susceptibility to injury.

The duration of exposure to high bilirubin levels needed to produce toxic effects are unknown. The more immature the infant is, the greater the susceptibility to kernicterus.

Kernicterus causes sensorineural hearing loss.

The ABR is used for newborn hearing screening, auditory threshold estimation, intraoperative monitoring, determining hearing loss type and degree, and auditory nerve and brainstem lesion detection.ABR is the most powerful method of detecting the site of sensorineural hearing loss.

17
Q

Inheritance of myotonic dystrophy

A

Triplet repeat expansion disorder

The triplet repeat expansion is sometimes called adynamicorunstable mutationbecause, as the gene is passed from parent to offspring, the number of triplet repeats may increase. In this way, the condition may worsen (be more severe) or have an earlier onset from generation to generation (genetic anticipation).

the myotonic dystrophy triplet repeat is most likely to expand when inherited from the mother.

18
Q

NF1

Inheritance

Diagnostic criteria

A

Autosomal dominant. About 50% cases are due tode novomutations.
NF1gene located on 17q11

90% of NF

NIH DIAGNOSTIC CRITERIA7:
Presence of 2 or more of any of the following

1) Six or more café-au-lait macules over 5 mm in diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals.
2) Two or more neurofibromas of any type or one plexiform neurofibroma.
3) Freckling in the axillary or inguinal regions.
4) Two or more Lisch nodules (iris hamartoma)
5) Optic glioma.
6) A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudoarthrosis.
7) First-degree relative (parent, sibling, or offspring) with NF-1 by the above criteria.

Other features:
CNS - macrocephaly, seizures, learning difficulties, speech defects, ADHD, aqueduct stenosis
Endocrine - precocious puberty
Tumours - CNS tumours, Wilms, pheo, leukaemia, sarcoma
Other - renal artery stenosis, cardiomyopathy, lung fibrosis, kyphoscoliosis (10-25%)

19
Q

NF2

A

NF2gene located on chromosome 22q12
Autosomal dominant condition. About 50% cases are due tode novomutations.

Tumours:

Vestibular schwannomas: Usually bilateral (unilateral in some cases). Presents as hearing loss/tinnitus/imbalance. Usually presents before 30 years of age. Can cause brainstem compression and hydrocephalus.

Spinal tumours: schwannomas/ependymomas

Meningiomas: intracranial/spinal

Peripheral nerve schwannomas

Eyes: Posterior subcapsular cataracts- which may present before the vestibular symptoms.

Neuropathy: mono/polyneuropathy. Facial nerve most commonly affected.

Skin: NF2 plaques. Cafe au lait spots. (Less common than NF1)

20
Q

Leigh’s disease

A

Mitochondrial encephalomyopathy

Onset is usually in infancy or early childhood. There are a few cases which present in adolescence or adulthood.

Nervous system:

CNS manifestations include regression of milestones, loss of motor skills, hypotonia, ataxia, nystagmus, respiratory depression (which can lead to respiratory failure).

PNS manifestations include polyneuropathy and myopathy.

Other features include retinitis pigments and deafness.

Metabolic: Increased lactate in blood and CSF.

MRI brainshows symmetrical hyperintense lesions in thalami, basal ganglia and brain stem.

21
Q

Carbamazepine side effects:

A

syndrome, agranulocytosis, aplastic anaemia, liver toxicity, tics, transient leukopenia;
hyponatraemia, nausea; dizziness.

22
Q

Clobazam side effects

A

apnoeas, dose-related neurotoxicity (drowsiness, sedation,

ataxia), hyperactivity, drooling, increased secretions.

23
Q

Lamotrigine side effects:

A

Stevens-Johnson syndrome, rarely liver toxicity,
CNS side effects - headache, ataxia, dizziness,
tremor (but usually less than other AEDs).

24
Q

Phenytoin side effects:

A

Stevens-Johnson syndrome, liver toxicity,

Gingival hyperplasia, coarsening of the facies,

hirsutism, cerebellovestibular symptoms (nystagmus and ataxia).

25
Q

Sodium valproate side effects

A

associated with weight gain. Other side effects include: hepatic and pancreatic toxicity, hyperammonaemia, tremor, alopecia, menstrual irregularities.

26
Q

Risk factors for SUDEP

sudden, unexplained [unexpected] death due to epilepsy

A

Seizure frequency (>1/month)

Medication noncompliance, subtherapeutic AED level

Age 20 to 45 years

Generalized tonic-clonic seizures

Polytherapy

Duration of epilepsy (>10 years)

Alcoholism

Male gender

27
Q

Rett syndrome

A

MECP2(Xq28). X linked dominant

A period of regression followed by recovery it stabilisation + meet all main criteria

Main criteria

  • partial or complete loss of purposeful hand skills
  • partial or complete loss of acquired spoken language
  • gait abnormalities: impaired (dyspraxia) or absence of ability
  • stereotypic hand movements (e.g. wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automatism)

Exclusionary criteria

  • brain injury, neuro metabolic disease or severe infection that causes neurologic problems
  • grossly abnormal psychomotor development in first 6 months of life

Stage 1(Early onset stagnation period):

Occurs between 6 months - 1.5 years

less interest in social interaction. Mild delay in achieving developmental milestones.

Stage 2(Rapid developmental regression period):

Occurs between 1-4 years

Loss of previously acquired fine motor and language skills. Social withdrawal.

Behavioural problems like hair pulling and bruxism.

Slowing of head growth. Acquired microcephaly.

Stage 3(Pseudo-stationary period):

Occurs between 2-10 years, once the regression phase is over.

Hand stereotypies become more prominent and include hand wringing, clapping and hand washing.

lrregular breathing patterns (breath holding, periods of slow/rapid breathing) becomes more prominent.

About 70% children develop seizures

Communicates mainly by eye pointing/eye gaze

Cold feet with or without atrophic changes

Stage 4(Late motor deterioration):

Occurs when individual becomes wheelchair bound.

Scoliosis

28
Q

Most common tumour in tuberous sclerosis

A

Giant cell astrocytoma

29
Q

Early infantile epileptic encephalopathy

A

KCNT1 GENE 9q34

Onset <6 Mo
Refractory focal seizures and development arrest

30
Q

X linked lissencephaly 2 (LISX2)

A

X linked
- males die within days to months
- females milder phenotype
ARX gene

Structural brain anomalies
Early onset intractable seizures
Severe psychomotor retardatio
ambigios genitalia