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High Yield Boards > Neurology > Flashcards

Neurology Flashcards

1
Q

Genetics of Spinal Muscular Atrophy, type 1

A

Autosomal recessive, chromosome 5

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2
Q

Pathogenesis of SMA type 1

A

Degeneration of anterior horn cell

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3
Q

Genetics and pathophysiology of Congenital myasthenia

A

Autosomal recessive, caused by deficiency of endplate acetylcholine receptors

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4
Q

Genetics of congenital myotonic dystrophy

A

Autosomal dominant, chromosome 19, caused by expanded CTG repeat with severity determined by number of repeats; inherited disorder of muscle caused be altered protein which leads to dysfunctional sodium and potassium channels

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5
Q

What is Riley-Day syndrome

A

Familial dysautonomia; autosomal recessive on 9q31-33; disorder or peripheral nervous system; reduced number of small unmyelinated nerves that carry pin, temp, taste, and mediate autonomic fxns

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6
Q

Syndrome with poor sick and swallow, emesis, abdominal dissension, loose bowel movement, pale, blotchy skin, hypotonia, absent corneal reflexes, hypersensitive pupillary enervation, decreased tongue papillae, temp and BP instability

A

Familial dysautonomia

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7
Q

Mechanism of action of phenobarbital

A

Increase time that chloride channels are open by acting on GABA-A receptor subunits which depresses the central nervous system

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8
Q

Mechanism of action of phenytoin

A

Blocks voltage gated sodium channels, thus blocking repetitive firing of action potentials

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9
Q

MoA of levetiracetam

A

Binding to the synaptic vesicle protein SV2A reducing the rate of vesicle release

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10
Q

MoA of midazolam

A

Increases GABA activity

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11
Q

MoA of lidocaine

A

Antiarrythmic medication/class Ib type; blocks sodium channels; mechanism and anticonvulsant not known

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12
Q

MoA of topiramate

A

Blocks sodium channels, enhances GABA-activated chloride channels and inhibits excitatory neurotransmission

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13
Q

MoA of bumetanide

A

Inhibits Na-K-Cl cotransporter; effective for temporal lobe epilepsy with altered chloride homeostasis

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14
Q

Genetics of tuberous sclerosis

A

Autosomal dominant; chromosomes 9, 16

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15
Q

Genetics of Neurofibromatosis type 1

A

Autosomal dominant, chromosome 17

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16
Q

Genetics of Neurofbromatosis, type 2

A

Chromosome 22

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17
Q

Clinical features of mcCune Albright syndrome

A

Irregular brown pigmentations, fibrous dysplasia, bones, precocious puberty, hyperthyroidism, hyperparathyroidism, pituitary adenoma

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18
Q

Genetics of von Hippel Lindau disease

A

Autosomal dominant on the short arm of chromosome three, results from over expression of transcription factor hypoxia-inducible factor

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19
Q

Most common type of cerebral palsy seen with extreme prematurity

A

Spastic diplegia

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20
Q

Macrocephaly, transillumination of skull, and adducted thumbs

A

X-linked hydrocephalus caused by stenosis of the aqueduct of Sylvia’s (HSAS); mutation in L1CAM

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21
Q

Diseases associated with congenital glaucoma

A

Sturge Weber syndrome, neurofibromatosis, retinoblastoma, homocystinuria, trisomy, 21, congenital rubella, stickler syndrome

22
Q

What gestational age does the EEG become continuous?

A

31 weeks

23
Q

At what gestational age do you start to see EEG changes with external stimuli

A

34 weeks

24
Q

What is the most common manifestation of neurofibromatosis in infancy?

A

Café au lait macules

25
Q

When is optic nerve myelination complete

A

24 months of age

26
Q

Persistence of what reflex is characteristic of athetoid cerebral palsy

A

Palmer grasp reflex

27
Q

What is more common cystic PVL or diffuse PVL

A

Diffuse PVL

28
Q

Head shape and syndrome associated with premature closure of bilateral coronal sutures

A

Brachycephaly, which can be observed in carpenter syndrome

29
Q

Which suture closes to give trigonocephaly

A

Metopic suture

30
Q

MMC at T12-L2- reflexes seen and ambulation potential

A

No reflexes, full braces needed- long-term ambulation unlikely

31
Q

MMC at L3-L4; reflexes seen and ambulation potential

A

Knee jerk present, may ambulate with braces and crutches

32
Q

MMC at L5- S1, reflexes seen and ambulation potential

A

Ankle jerk present, ambulate with or without short braces

33
Q

MMC at S2-S4, reflexes seen and ambulation potential

A

Anal wink reflex present, ambulate without braces

34
Q

Calculation of cerebral perfusion pressure

A

CPP= MAP-ICP
MAP= (2/3)DBP + (1/3)SBP

35
Q

Developmental finding seen more in IUGR infants

A

Decreased full scale and verbal IQ

36
Q

Diagnosis of septooptic dysplasia

A

Two of the following 3: optic nerve hypoplasia, pituitary gland dysfunction, and absence of the septum pellucidum

37
Q

Genetics of achondroplasia

A

Autosomal dominant but 80 to 90% result from new mutations, increased risk with increased paternal age, secondary to a mutation in the trans membrane domain of the fibroblast growth factor receptor 3 gene

38
Q

Trident hands, depressed nasal bridge, frontal bossing, megalocephy, caudal narrowing of spinal cord, normal intelligence, short stature

A

Achondroplasia

39
Q

Chromosome in Beckwith-Wiedemann syndrome

A

11p15.5

40
Q

Tumor surveillance screening in BWS

A

abdominal ultrasound every three months until age 7, monitoring alpha-fetoprotein

41
Q

Genetics and features of Holt-Oram syndrome

A

Autosomal dominant with variable expression, 12q2 locus
Cardiac in greater than 50%: ASD, VSD, coarctation; upper limb defects, absent, hypoplastic, or abnormally shaped thumbs, narrow shoulders

42
Q

Genetics of Marfan syndrome

A

Autosomal dominant with variable expression, connective tissue disorder that is secondary to abnormal fibrillin gene located at 15 Q 21.1

43
Q

Genetics of Noonan syndrome

A

Sporadic or autosomal dominant, 12 Q 22

44
Q

Genetics of osteogenesis imperfecta

A

Majority or autosomal dominant, defect in type one collagen

45
Q

Genetics of Stickler syndrome

A

Autosomal dominant with variable expression, secondary to mutation of type 2 collagen on 12 Q 13

46
Q

Lower eyelid coloboma, downslanting palpebral fissures, mandibular hypoplasia, dysmorphic ears, malar hypoplasia

A

Treacher -Collins syndrome (autosomal dominant but 60% secondary to new mutations)

47
Q

Neuroblastoma has been associated with what medical conditions

A

Turner syndrome, Hirshprung disease, and central hypo ventilation syndrome

48
Q

Cranial nerve IV name and what happens if it’s impaired

A

Trochlear nerve
Impaired downward gaze

49
Q

Name of cranial nerve VI and what happens if it’s impaired

A

Abducens nerve
Absence of lateral eye movement

50
Q

Most common presenting symptom after in utero mca ischemic stroke

A

Seizures

51
Q

A tethered cord should be considered, when

A

When the conus medullary is located below the lumbar 1-2 disc space

52
Q

The optic vesicle develops from

A

Diencephalon

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