NUPY 1_Neurocytopathology, Congenital Malformations

Question 1

3 conditions associated with this morphologic change

Answer 1

Acute hypoxia
Ischemia
Severe hypoglycemia

Question 2

Idenitfy this morphologic change

Answer 2

Red neurons

Question 3

Describe 3 features seen in this image

Answer 3

pyknotic nucleus
disappearance of nucleolus
hypereosinophilic cytoplasm

Question 4

Composition of the inclusions seen in this image

Answer 4

cytoskeletal intermediate filaments

Image shows neurofibrillary tangles associated with Alzheimer disease

Question 5

1 condition associated with this morphologic change

Answer 5

Alzheimer disease

Question 6

What term best describes the morphologic change shown?

Answer 6

central chromatolysis

Question 7

Hypertrophy and hyperplasia of astrocytes

Answer 7

Gliosis

Question 8

Gliosis is well established after _________ days

Answer 8

7-10 days

Question 9

Identify the stain used and the cell type shown

Answer 9

Stain: GFAP
Cell type: Astrocyte

Question 10

Name this morphologic change seen in astrocytes

Answer 10

Gemistocytic

Question 11

List 3 conditions associated with the morphologic change shown

Answer 11

Change: Demyelination
Conditions: Multiple sclerosis, progressive multifocal leukoencephalopathy (PML), leukodystrophies.

Question 12

3 morphologic changes seen in microglial cells in response to injury

Answer 12

roda shaped nuclei
microglial nodule
foam cells

Question 13

Name this morhologic change

Answer 13

Microglial nodule

Microglial nodule - Cluster of microglial cells and lymphocytes

Question 14

An increase in CSF volume with expansion of the ventricular system

Answer 14

Hydrocephalus

Question 15

Based on this finding explain the most likley mechanism of hydrocephalus

All ventricles above level of obstruction are enlarged, below level of obstruction are normal

Answer 15

Obstruction to CSF flow from the ventricles to the subarachnoid space

Non communicating (obstructive) hydrocephalus

Question 16

Based on this finding explain the most likley mechanism of hydrocephalus

Enlargement of entire ventricular system

Answer 16

Dysfunction/ obliteration of arachnoid villi or overproduction of CSF

Communicating hydrocephalus

Question 17

List 5 causes for non communicating hydrocephalus

Answer 17

• Aqueductal stenosis
• Arnold Chiari malformation II
• Sequelae of bacterial meningitis
• Cerebral hemorrhage
• Mass in the 3rd or 4th ventricle

Question 18

List 4 conditions associated with communicating hydrocephalus

Answer 18

• Choroid plexus tumors
• Acute bacterial meningitis
• Subarachnoid hemorrhage
• Tuberculous meningitis

Question 19

Type of hydrocephalus most likely to occur in this condition

Answer 19

Non communicating hydrocephalus (obstructive)

Mass in the third ventricle seen in the image

Question 20

Diagnosis?
* Neonate with paralysis of upward gaze
* enlarged head circumference
* See MRI attached

Answer 20

Stenosis of aqueduct of Sylvius

Question 21

Diagnosis?
* Headache, papilledema
* Normal CSF presure
* Dilated ventricles on imaging
* Wide-based gait, urinary incontinence, dementia

Answer 21

Normal pressure hydrocephalus

Question 22

Mechanism of ataxia and incontinence in normal pressure hydrocephalus

Answer 22

stretching of sacral motor fibers near the dilated ventricle

Question 23

Mechanism of dementia in normal pressure hydrocephalus

Answer 23

strecthing of limbic fibers near the dilated ventricle

Question 24

Imaging findings in normal pressure hydrocephalus

Answer 24

dilated lateral and 3rd ventricle, sparing of 4th ventricle, sulcal atrophy

Question 25

Mechanism of hydrocephalus ex vacuo

Answer 25

compensatory increase in ventricular volume secondary to a loss of brain parenchyma

Question 26

Conditions associated with hydrocephalus ex vacuo

Answer 26

Alzheimer disease HIV associated dementia Huntington disease Frontotemporal dementia

Question 27

Identify 2 findings seen in this radiologic image

Answer 27

sulcal atrophy dilated ventricles | Atrophy – narrow and sharper gyri, wider sulci

Question 28

Risk factors for idiopathic intracranial hypertension | also known as pseudotumor cerebri

Answer 28

1. Female sex 2. Tetracycline 3. Obesity 4. Vitamin A excess 5. Danazol

Question 29

setting sun ( sun-downing) sign

Answer 29

sclera showing between the upper eyelid and the iris, upward-gaze paresis with eyes that appear to be driven downward ## Footnote commonly seen in children with obstructive hydrocephalus

Question 30

* Adult male * Occipital headache that worsens with coughing * low lying cerebellar tonsils extend through formane magnum into vertebral canal * brainstem and 4th ventricle in relatively normal position * Syringomyelia

Answer 30

Arnold Chiari Type 1

Question 31

* neonate * small posterior fossa * downward extension of vermis, tonsils, medulla through foramen magnum

Answer 31

Arnold Chiari Type 2

Question 32

Why is tuberous sclerosis associated with several tumors?

Answer 32

Unregulated mTOR activity

Question 33

The genes in tuberous sclerosis encode which 2 proteins?

Answer 33

Hamartin, tuberin

Question 34

Diagnosis? * hypopigmented macules * Shagreen patches * cardiac rhabdomyoma * subependymal nodules * angiomyolipoma * adenoma sebaceum

Answer 34

tuberous sclerosis

Question 35

Clinical symptom most likley to have been associated with this lesion ( see image)

Answer 35

Seizures | image shows cortical tuber (cortical/ white matter demarcation is lost)

Question 36

Identify this lesion associated with tuberous sclerosis

Answer 36

subependymal nodule | seen along lateral surface of the lateral ventricles - candle dripping

Question 37

* benign mass in lateral ventricle * adult with tuberous sclerosis * tumor cells share features of glial cells (brightly eosinophilic cytoplasm) and ganglion cells (large vesicular nuclei with prominent nucleoli). * GFAP +, synaptophysin +

Answer 37

subependymal giant cell astrocytoma

Question 38

Most likely imaging finding in an individual with following symptoms: * bilateral loss of pain and temperature * preserved vibration and position sense * lower extremity weakness

Answer 38

enlarged cervical cord and a cystic cavity | Diagnosis: syringomyelia

Question 39

absent/ rudimentary vermis enlarged posterior fossa non-communicating hydrocephalus

Answer 39

Dandy Walker malformation

Question 40

List 4 intrauterine infections that present with microcephaly

Answer 40

CMV, Zika, Rubella, Toxoplasmosis | Recap how each of these present in the infected neonate

Question 41

**Identify this genetic condition associated with microcephaly** * holoprosencephaly * microphthalmia * cleft lip/palate * omphalocele * intellectual disability and seizures.  * polydactyly and cutis aplasia 

Answer 41

Trisomy 13 (Patau syndrome)

Question 42

Most likely substance causing microcephaly in this child: * thin upper lip * smooth philtrum * low nasal bridge * epicanthal folds * hypertelorism

Answer 42

Alcohol | Fetal alcohol syndrome

Question 43

embryologic basis of neural tube defects

Answer 43

failure of fusion of lateral folds of neural plate

Question 44

Identify this neural tube defect: * absent calvarium and cerebral hemispheres * polyhydramnios * elevated maternal serum AFP

Answer 44

anencephaly | anterior/ cranial neuropore fails to close

Question 45

Identify this neural tube defect: * tuft of hair/ dimple over lumbosacral defect * absent vertebral arches * failure of posterior/ caudal neuropore to close

Answer 45

Spina bifida occulta

Question 46

extrusion of malformed brain tissue through a midline defect in the cranium.

Answer 46

encephalocele

Question 47

meningeal sac protruding through bone defect in the lumbosacral area

Answer 47

meningocele

Question 48

spinal cord and meninges protruding through the defect

Answer 48

myelomeningocele

Question 49

Embryologic basis of this condition

Answer 49

failure of the telencephalon to divide into the two hemispheres | Diagnosis: Holoprosencephaly

Question 50

**Diagnosis?** * Trisomy 13 * solitary median maxillary central incisor * proboscis, cyclopia * see MRI

Answer 50

Holoprosencephaly