Neuropathies

Question 1

A mother with type I diabetes had a spontaneous abortion of a fetus with the lack of vault formation and degenerating brain tissue. What is the name of this presentation?

Answer 1

Anencephaly

Question 2

A teenage male complains of low-grade lower back pain and has noticed a patch of hair growing just above his waist there.
What does the patient likely have?
What test would confirm this diagnosis?

Answer 2

Spina bifida occulta

X-Ray

Question 3

A baby is born with a large fluid-filled sac protruding from her lower back.
What caused this protrusion?
What is this defect called?

Answer 3

Extensive lack of fusion of vertebral arches

Meningocele (spina bifida cystica)

Question 4

A newborn presents with a sac protruding from its lower back. Upon examination, it is found to contain neural tissue.
What is this defect called?
What is a further complication of the general issue?

Answer 4

Meningomyelocele (spina bifida cystica)

Hydrocephaly

Question 5

A pregnant woman presents for a routine ultrasound at the end of her first trimester. You notice defects in the fetus’s lower spine.
What tests can you order to confirm a diagnosis of spina bifida?
If the tests confirm spina bifida, at what week can you operate to correct the defect?

Answer 5

Alpha-fetoprotein levels in maternal serum and amniotic fluid
Week 28

Question 6

An alcoholic mother has given birth to a severely neurologically disabled baby. The newborn’s facial structures are fused and a CT confirms an fusion of the lateral ventricles into single telencephalic ventricle.
What is the medical term for such a fusion?

Answer 6

Alobar holoprosencephaly (HPE)

Question 7

A bike messenger presents to the ER after being hit by a delivery truck. A CT shows a lens-shaped fluid mass expanding inward towards the brain on his left side.
What is the most likely source of this blood?
Where would lateral expansion of the fluid stop (if at all)?

Answer 7

Meningeal artery

At skull sutures

Question 8

A construction worker presents to the ER after a brick fell on his head while he wasn’t wearing a hard hat. A CT shows a crescent-shaped fluid mass on his right side.
What is the most likely source of this blood?
Where would lateral expansion of the fluid stop (if at all)?

Answer 8

Dural venous sinus

At dural reflections

Question 9

While operating on a patient’s brain tumor, a clumsy intern moves a retractor and punctures a cerebral vessel. What are the possible places of hemorrhage?

Answer 9

Subarachnoid
Intraparenchymal
Intraventricular

Question 10

A football player presents to the ER after taking a hard blow to the head. A CT confirms an epidural hematoma on the right side after his right middle meningeal artery had ruptured. What may be causing the musculoskeletal deficits on the right side of his body?

Answer 10

Cerebral herniation - hematoma pushing mass of brain against contralateral side

Question 11

A unconscious bank teller presents to the ER after being a victim of a robbery, during the course of which he was struck in the back of the head with the robber’s pistol.
How does the expanding mass in his temporal lobe present?
What is the expanding mass pushing against?

Answer 11

Blown pupil

Tentorium cerebellum

Question 12

A circus acrobat presents to the ER with a tonsillar herniation after falling off the trapeze and landing on her head. What brain structure is passing through a skull structure that will cause rapid death of this patient?

Answer 12

Medulla through foramen magnum

Question 13

You give a lumbar puncture to an 8-year-old female to check for meningitis. What spinal level do you use to obtain her CSF?

Answer 13

L4/L5

Question 14

You give a lumbar puncture to an 28-year-old female to check for meningitis. What spinal level do you use to obtain her CSF?

Answer 14

L3/L4

Question 15

You draw CSF from a patient suspected of having meningitis. You see the fluid is yellow and turbid. Lab results show elevated neutrophils and protein along with decreased glucose. What kind of meningitis does this patient likely have?

Answer 15

Bacterial meningitis

Question 16

You draw CSF from a patient suspected of having meningitis. You see the fluid is clear. Lab results show elevated lymphocytes. What kind of meningitis does this patient likely have?

Answer 16

Viral meningitis

Question 17

You draw CSF from a patient suspected of having meningitis. You see the fluid is yellow and viscous. Lab results show elevated lymphocytes and protein along with decreased glucose. What kind of meningitis does this patient likely have?

Answer 17

Tuberculous meningitis

Question 18

You draw CSF from a patient suspected of having meningitis. You see the fluid is yellow and viscous. Lab results show elevated lymphocytes. What kind of meningitis does this patient likely have?

Answer 18

Fungal meningitis

Question 19

A 21-year-old female presents with reoccurring seizures for the past month. After a multitude of tests, you suspect a mutation in FLNA gene.
What is the clinical term for this presentation?
What protein is affected?
What does this protein associate with?
What is this protein’s responsibility?

Answer 19

Periventricular heterotropia
Filamin
Actin
Signaling initiation of migration of neurons

Question 20

A severely mentally retarded male newborn is screened for genetic disorders to find a mutation in the LISX1 gene.
What protein is affected?
What does this protein associate with?
What is this protein’s responsibility?
What is the clinical term for the pattern of the surface of his brain?

Answer 20

Doublecortin
Microtubules
Proper migration up radial glia
Lissencephaly or pachygyri

Question 21

What would the brain of a female with a mutation in the LISX1 gene look like?

Answer 21

Double cortex - subcortical laminar band heterotropia (SBH, grey matter underneath white matter)

Question 22

A patient has a mutation on chromosome 7 (LIS2) with lissencephaly.
What protein accumulates extracellularly just below the pial surface?
What secretes this protein?
What is this protein responsible for?

Answer 22

Reelin
Early-born neurons in layer I (Cajal-Retzius cells)
Cell-cell interactions and termination of migration

Question 23

A patient with Norman-Roberts Syndrome presents to your office. What would you find in this individual’s brain?

Answer 23

Lissencephaly with inverted cortical lamination and underdevelopment of the cerebrum

Question 24

A 3-year-old severely retarded patient presents for genetic screening. The LIS1 gene on chromosome 17 is found to be mutated.
How many layers would this patient’s brain have?
The mutated protein is associated with what cell structure?
Why won’t this autosomal dominant disease most likely not be passed on?

Answer 24

4 layers
Microtubules
High infant or childhood mortality

Question 25

An hiker who was rescued after falling down a ravine presents to the ER complaining that she cannot feel pressure or vibration with her right arm. She also doesn’t realize that she keeps removing it from the exam table. She has a large bruise in the middle of her upper back.
What is the most likely location of her spinal lesion?

Answer 25

Right fasciculus cuneatus

Question 26

Bane lifts Batman over his head and breaks Batman’s lower back. After spine realignment, Batman presents complaining that he cannot feel pressure and vibration from his Batpod in his left leg.
What is the most likely location of the lesion caused by Bane’s back-breaking move?

Answer 26

Left fasciculus gracilis

Question 27

After a devastating Blue Shell from Wario, Toad can no longer feel vibration and pressure from his Kart all along his left side. His large mushroom head protected his medulla and everything rostral, so you suspect an injury to his neck.
What is the name of the affected system?
Which tracts are most likely lesioned?

Answer 27

Dorsal column or medial lemniscus system

Left fasciculus gracilis and cuneatus

Question 28

A blind man walked into the street after his new guide dog mistakenly chased a squirrel. The man was struck by a passing vehicle and was rushed to the ER. When he awoke, he could no longer read Braille with his right hand. Due to the nature of his injuries and other sensory deficits, you suspect injury to his medial lemniscus.
Where are the cell bodies of the affected neurons and what side are they on?

Answer 28

VPL of thalamus on left side

Question 29

After obtaining a CT of an unconscious patient, you notice lesions to the right nucleus cuneatus of the spinal cord. What deficits would this patient find he has upon waking up?

Answer 29

Loss of discriminative touch, pressure, vibration and proprioception in his right arm

Question 30

After obtaining a CT of an unconscious patient, you notice lesions to the left nucleus gracilis of the spinal cord. What deficits would this patient find she has upon waking up?

Answer 30

Loss of discriminative touch, pressure, vibration and proprioception in her left arm

Question 31

A snowboarder presents with a spinal injury and hypothermia. He cannot feel the pressure points in his poorly fitting right boot.
What system is most likely lesioned?
Which side is most likely lesioned?

Answer 31

Spinothalamic or anterolateral system

Left side

Question 32

A yoga instructor presents to your office complaining of loss of temperature and hard pressure sensations.
Which fibers carry these sensations?
Which order of neuron crosses the neural axis and where does it cross?

Answer 32

Spinothalamic or anterolateral system

Second order crosses at anterior white commissure