Neurology

Question 1

Genetics of Spinal Muscular Atrophy, type 1

Answer 1

Autosomal recessive, chromosome 5

Question 2

Pathogenesis of SMA type 1

Answer 2

Degeneration of anterior horn cell

Question 3

Genetics and pathophysiology of Congenital myasthenia

Answer 3

Autosomal recessive, caused by deficiency of endplate acetylcholine receptors

Question 4

Genetics of congenital myotonic dystrophy

Answer 4

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

Question 5

What is Riley-Day syndrome

Answer 5

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

Question 6

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

Answer 6

Familial dysautonomia

Question 7

Mechanism of action of phenobarbital

Answer 7

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

Question 8

Mechanism of action of phenytoin

Answer 8

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

Question 9

MoA of levetiracetam

Answer 9

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

Question 10

MoA of midazolam

Answer 10

Increases GABA activity

Question 11

MoA of lidocaine

Answer 11

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

Question 12

MoA of topiramate

Answer 12

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

Question 13

MoA of bumetanide

Answer 13

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

Question 14

Genetics of tuberous sclerosis

Answer 14

Autosomal dominant; chromosomes 9, 16

Question 15

Genetics of Neurofibromatosis type 1

Answer 15

Autosomal dominant, chromosome 17

Question 16

Genetics of Neurofbromatosis, type 2

Answer 16

Chromosome 22

Question 17

Clinical features of mcCune Albright syndrome

Answer 17

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

Question 18

Genetics of von Hippel Lindau disease

Answer 18

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

Question 19

Most common type of cerebral palsy seen with extreme prematurity

Answer 19

Spastic diplegia

Question 20

Macrocephaly, transillumination of skull, and adducted thumbs

Answer 20

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

Question 21

Diseases associated with congenital glaucoma

Answer 21

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

Question 22

What gestational age does the EEG become continuous?

Answer 22

31 weeks

Question 23

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

Answer 23

34 weeks

Question 24

What is the most common manifestation of neurofibromatosis in infancy?

Answer 24

Café au lait macules

Question 25

When is optic nerve myelination complete

Answer 25

24 months of age

Question 26

Persistence of what reflex is characteristic of athetoid cerebral palsy

Answer 26

Palmer grasp reflex

Question 27

What is more common cystic PVL or diffuse PVL

Answer 27

Diffuse PVL

Question 28

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

Answer 28

Brachycephaly, which can be observed in carpenter syndrome

Question 29

Which suture closes to give trigonocephaly

Answer 29

Metopic suture

Question 30

MMC at T12-L2- reflexes seen and ambulation potential

Answer 30

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

Question 31

MMC at L3-L4; reflexes seen and ambulation potential

Answer 31

Knee jerk present, may ambulate with braces and crutches

Question 32

MMC at L5- S1, reflexes seen and ambulation potential

Answer 32

Ankle jerk present, ambulate with or without short braces

Question 33

MMC at S2-S4, reflexes seen and ambulation potential

Answer 33

Anal wink reflex present, ambulate without braces

Question 34

Calculation of cerebral perfusion pressure

Answer 34

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

Question 35

Developmental finding seen more in IUGR infants

Answer 35

Decreased full scale and verbal IQ

Question 36

Diagnosis of septooptic dysplasia

Answer 36

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

Question 37

Genetics of achondroplasia

Answer 37

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

Question 38

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

Answer 38

Achondroplasia

Question 39

Chromosome in Beckwith-Wiedemann syndrome

Answer 39

11p15.5

Question 40

Tumor surveillance screening in BWS

Answer 40

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

Question 41

Genetics and features of Holt-Oram syndrome

Answer 41

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

Question 42

Genetics of Marfan syndrome

Answer 42

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

Question 43

Genetics of Noonan syndrome

Answer 43

Sporadic or autosomal dominant, 12 Q 22

Question 44

Genetics of osteogenesis imperfecta

Answer 44

Majority or autosomal dominant, defect in type one collagen

Question 45

Genetics of Stickler syndrome

Answer 45

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

Question 46

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

Answer 46

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

Question 47

Neuroblastoma has been associated with what medical conditions

Answer 47

Turner syndrome, Hirshprung disease, and central hypo ventilation syndrome

Question 48

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

Answer 48

Trochlear nerve Impaired downward gaze

Question 49

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

Answer 49

Abducens nerve Absence of lateral eye movement

Question 50

Most common presenting symptom after in utero mca ischemic stroke

Answer 50

Seizures

Question 51

A tethered cord should be considered, when

Answer 51

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

Question 52

The optic vesicle develops from

Answer 52

Diencephalon