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Flashcards in Neurology Deck (70):
1

Spinal muscular Atrophy

AR; Most common genetic cause of death in the first year. poor tone, fasciculations, poor feeding, usually starts with LE then UE then respiratory muscles. Diagnose with gene mutation screening

2

Febrile seizures occur in what ages

6mos to 5 years

3

Definition of febrile seizure

generalized seizure that lasts <15min, occuring only once in 24 hour period, in a febrile child without an intracranial infection

4

Treatment of absence seizures

Ethosuximide

5

Treatment of complex partial seizures

Carbamazepine

6

Juvenile myoclonic epilepsy

adolescent onset, generalized tonic-clonic seizures, and fast involuntary muscle jerks termed “myoclonus.” both the first generalized tonic-clonic seizures and the myoclonic jerking commonly occur in the morning. worse with sleep deprivation. normal intelligence. lifelong condition. Tx with valproate.

7

Most common comorbidity in Tourette Syndrome

ADHD

8

Diagnosis of comorbidity

clinical

9

SMA

AR, defect in SMN gene, anterior horn nerve degeneration. Wornig Hoffman is the worst type. Facial muscles not involved so face looks "bright", diffuse hypotonia, tongue fasciculations, areflexia. No cure

10

Asymmetric crying facies

At rest there is symm, with crying there is drooping of the lower lip on one side. The side that droops is normal. Absence of specific muscle development 2/2 nerve compression. . It may improve if 2/2 compression, but if dont have the muscle, dont improve. Can have other congenital issues (heart defect).

11

Rett syndrome

X linked disorder, more in females, MEPC2 gene. normal development for the first 6 mos, the development plateaus, head growth slows down, loss of speech or social skills., hand-wringing sterotyped movements. Seizures.

12

Erb's palsy

Brachial plexus injury. . Inability to abduct,.

13

Guillain-Barre syndrome

Acute flaccid paralysis, areflexia, can causes cardiac arrythmias, can have autonomic involvement. Increased protein with no increase in cells in CSF. treated with IVIG or plasmapheresis

14

When does handedness develop?

not before 18mos

15

Causes of tethered cord

spinal lipoma, shortened filum terminale, dermal sinus tract

16

hypotonia and dysmorphism in infancy

Praderwilli, Downs, Zellweger.

17

Who needs 4g folic acid before and during pregnancy?

Women who have had kids with NTD or on anticonvulsants.

18

What is the Dandy-Walker malformation

posterior fossa cyst that is continuous with the 4th ventricle, partial or complete absence of the cerebellar vermis and hydrocephalus.

19

Type 1 Arnold Chiari Malformation

The cerebellar tonsils or vermis are down below the foramen magnum. Symptoms occur due to dysfunction of lower cranial nerves, brainstem or spinal cord. Dysphagia, vertigo, sleep apnea, ataxia, headache and neck pain. STRONG association with syringomyelia.

20

Type 2 Arnold Chiari Malformation

Most common forma. When 4th ventricle and lower medulla are pushed down below level of foramen magnum. Associate with myelomeningocele and hydrocephalus. More severe than type 1.

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Type III Arnold Chiari malformation

Herniation of cerebellum through a cervical spina bifida defect

22

Klippel-Feil syndrome

Short neck, limited neck motion, low occpital hairline - cervical spine is fused. Associated congenital abnormalities are common - deafness, macrocephaly, hydrocephaly.

23

Lissencephaly

Associated with Miller Dieker syndrome. No cerebral convolutions - poorly formed sylvian fissure - smooth cerebral surface with thickened cortical mantle.

24

Miller Dieker Syndrome

deletion of Chromosome 17. Prominent forehead, bitemporal hollowing, anteverted nostrils, micrognathia, lissencephaly

25

Schizencephaly

Unilateral or bilateral clefts within the cerebral hemispheres. Seizure d/o, microcephaly, Intellectual disability, spastic quadrileplgia

26

Spastic diplegia

legs have more spasticity than arms. Most commonly associated with IVH and periventricular leukomalacia

27

Moya moya disease

chronic, occlusive cerebrovascular disease that is associated with sickle cell diease, NF1, trisomy 21, and cranial irradiation. There are extensive collateral vessels surrounding circle of Willis formed from previous occlusions.

28

Erb palsy

From birth trauma - upper brachial plexus damage. Arm hangs limp in internal rotation with pronated wrist. Normal sensory exam. Treat by putting arm in external rotation

29

Klumpke palsy

Lower plexus root injury - more sensory effects and vosmotor involvement. Paralysis of flexors and extensors of forearm

30

What vaccines need to be avoided with egg alelrgY?

Can give MMR. If have had anaphylactic reaction, refer to allergy before giving flu shot. If have mild reaction to egg, give inactivated and watch in office for 30 minutes after.

31

Landau Kleffner Syndrome

aquired epileptic aphasia - healthy kids lose previously acquired language skills

32

Side effects of valproate

Hepatotox - weight gain, thrombocytopenia. Very teratogenic.

33

Carbamazepine side effects

hepatotox, leukopenia, SIADH

34

Phenytoin side effects

gum hypertrophy, SJS, blood dyscrasia, hirsuitism, ataxia, nystagmus

35

Lamotrigine side effect

SJS 8/1000 patients

36

What is most common age for febrile seizures?

6-60 months

37

What defines simple febrile seizure?

<15 minutes, nonfocal, no recurrance

38

What defines complex febrile seizure?

lasts >15 minutes, focal, recurs in 24 hours

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How often do febrile seizures recur?

35% have recurrance, of those, 50% have a third

40

What % of kids with febrile seizure go on to develop epilepsy?

1-2%.

41

Duchenne Muscular dystrophy inheritance

1/3000 male births. X linked recessive

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Duchenne MD presentation

waddling gait, toe walking, ages 2-6, calf muscle pseudohypertropy, gowers sign, CPK elevated

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Complications of Duchenne MD

respiratory failure, cardiomyopathy

44

Diagnosis of duchenne MD

muscle biopsy or gene test

45

Treatment of GBS

IVIG or plasmapheresis

46

Treatment of transverse myelitis

steroids

47

What is spasmus nutans?

Spasmus nutans is an acquired form of nystagmus that occurs in children typically within the first 2 years of life. It presents as a clinical triad of 1) nystagmus 2) head bobbing 3) torticollis. The current theory holds among researchers that head bobbing and torticollis are compensatory mechanisms that improve vision by reducing the frequency and asymmetry of the nystagmus. Nystagmus usually persists until age 5-12

48

What kind of nystagmus does phenytoin cause?

horizontal

49

What is a common associated disease in patients with myelomeningocele?

80-85% develop hydrocephalus in association with Type II Chiari defect

50

What is Klippel-Fiel syndrome?

Short neck, limited neck motion, low occipital hairline. Fused cervical vertebrae

51

Which drug is associated with agenesis of coprus collosum

maternal use of cocaine

52

What diseases is Moya Moya associated with?

Sickle cell? , NF1, trisomy 21, cranial radiation

53

What conditions are saccular aneurysms associated with?

Coarctation, polycystic kidney disease, Marfan or Ehlers danlos

54

What part of the brachial plexis is ERbs palsy associated with?

Upper plexus root. Absent biceps tendon, triceps is present

55

What part of the brachial plexus is Klumpke's palsy associated with?

Lower C8-T1. Have more motor and sensory involvement. Can also have Horners syndrome is T1 nerve root involved. Poorer prognosis than with ERbs

56

Risk factors for CP in full term infants

Risk factors for CP in full-term infants include advanced maternal age, black race, and intrauterine growth retardation

57

Risk factors for repeated febrile seizure

younger age at the first febrile seizure, family history of febrile seizures, lower degree of fever at the time of seizure, and shorter time interval between the onset of fever and the first seizure.

58

Describe generalized seizure

involve both hemispheres of the brain, aprupt onset without aura, loss of consciousness bilateral motor activity with change in tone

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Simple partial seizure

last 10-20sec. often have aura, focal, simple means they can still interact with environment, no LOC

60

Complex partial seizures

LOC, focal, automatisms and aura common. Usually due to limbic structures

61

What is black box warning on vigabatrin?

permanent vision loss

62

Lennox Gestualt syndrome

severe seizures, intellectual disability, and characteristic EEG pattern - bilateral, synchronous, sharp-wave and slow wave complexes. Many have history of infantile spasms

63

Rasmussen syndrome

immunologic process involving one side of the head, start with generalized seziures, but soon become focal, unremitting, limited to one side of the body. Deteriorates to a stable neurologic deficit

64

What are pathologic laughter seizures associated with?

hypothalamic hamartoma

65

which kind of seizures can you use valproate for?

generalized tonic-clonic, atypical absence, myotonic

66

ethosuximide side effects

skin rash, liver dysfunction, leukopenia

67

How long should kidney with idiopathic epilepsy who have been stable be on meds?

2 years seizure-free

68

What neuro deficits are noted in SMA

motor deficits, prox>distal, lower>upper. No sensory, facial or intellectual issues

69

type 1 SMA

Most severe, presents <6 months, most die by 2 from resp failure

70

Type 2 SMA

chronic; lost milestones at age 2, slowing progressive weakness