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Neurology Boards > Peds Neuro - Embryogenesis > Flashcards

Peds Neuro - Embryogenesis Flashcards

1
Q

What is the rhombencephalon?

A

Metencephalon: Pons, Cerebellum
Myelencephalon: medulla

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2
Q

What is the most common cause of mental retardation? What is it associated with?

A

Fetal Alcohol Syndrome

Associated with microcephaly, congenital heart disease, most severe form = holoprosencephaly

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3
Q

What are examples of neuralation failure? (4)

A

Anencephaly (failure of anterior neural tube closure)
Encephalocele (herniation of brain tissue into open space typically occipital, restricted failure of anterior neural tube closure)
Spina Bifida
Chairi Malformation

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4
Q

What kind of receptors are Meisnner’s Corpsule? Pacinian Corpuscles?

A

Meisnner’s: Touch

Pacinian: Vibration

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5
Q

Define the difference between Chairi Types 1-4

A

Chiari Type I: Displacement of cerebellar tonsils through foramen magnum >5mm; Syringomyelia

Chiari Type 2: Displacement of medulla, 4th ventricle and vermis through foremen magnum, associated with peaked tectum and lumbar myelomeningocele, +Hydrocephalus from cerebral aqueduct stenosis

Chiari Type 3: Similar to Chiari Type w/ occipital encephalocele, hydrocephalus

Chiari Type IV: Cerbellar hypoplasia (now called primary cerebellar agenesis)

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6
Q

What are the 3 areas of the brain that contain no BBB?

A

Subfornical Organ
Area Postrema
Neurohypophysis

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7
Q

Describe holoprosencephaly: appearance, mutation

A

Failure of the prosencephalon development (forebrain) resulting in failure to divide into two hemispheres.

Mutation: Sonic HedgeHog

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8
Q

Describe the 3 subtypes of Holoprosencephaly?

A
  1. Alobar: Severe, hemispheres fail to separate resulting in cyclopia
  2. Semilobar: Incomplete separation
  3. Lobar: Inter-hemispheric fissure is complete, thalami separated, frontal horns of lateral ventricles are fused, septum pellucidum is absent
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9
Q

Why can a tethered spinal cord occur? What diseases is it associated with?

A

Stretching of spinal cord from strong film terminals or lipoma causing ischemia

Associated with Chiari Type 1, Trisomy 13/18, DiGeorge Syndrome

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10
Q

What is the difference between porencephaly vs schizencephaly?

A

Porencephaly: cleft or cyst in cerebral hemisphere, NOT lined with grey matter; Likely from in utereo injury, Can cause hydrocephalus

Schizencephaly: cleft lined with grey matter connecting the ventricle to the plural surface of the brain

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11
Q

Describe the difference between schizencephaly: open vs closed lip?

A

Open lip: cleft walls are separated and filled with CSF

Closed lip: cleft walls are in apposition (no separation)

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12
Q

What disease is associated with semilobar prosencephaly?

A

Septo-optic Dysplasia (mutation: HESX-1>Sonic Hedgehog)

  • Hypothalamic hamartomas leading to panhypopituitarism
  • Agenesis of cerebellar vermis
  • Absence of septum pullicidum
  • Optic nerve hypoplasia
  • Fusion of the dentate (ataxia)
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13
Q

What is the difference between simple vs complex craniosynostosis?

A

Simple : early closure of one or more skull sutures but do not cause hydrocephalus or symptoms

Complex: Several syndromes (Crouzon, Alpert = most high yield)

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14
Q

What are the examples of neuronal migration? (4)

A
  • Schizencephaly
  • Lissencephaly
  • Polymicrogyria
  • Neuronal heterotopia
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15
Q

What are examples of neuronal proliferation (3rd month of gestation)?

A

Microcephaly

  • Syndromic (trisomy 13/18, TORCH, metabolic-toxic)
  • Familial genetic (fragile x, tuberous sclerosis)
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16
Q

What is the pathophysiology of caudal regression syndrome/sacral agenesis?

A
  • Degeneration of the coccyx and sacral vertebrae/spinal cord secondary to decreased sonic hedgehog expression at the caudal end of the neural tube
  • Atrophy of lower extremities & malformations of rectum/GU system
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17
Q

What is the main embryonal layer forming the CNS?

A

Ectoderm

18
Q

Define acquired causes for non-communicating vs communicating acquired pediatric hydrocephalus?

A

Non-communicating: aqueduct stenosis caused by intrauterine infection, hemorrhage, trauma, tumor

Communicating: SAH, Meningitis

19
Q

What 3 syndromes does sonic hedgehog mutation cause?

A

Holoprosencephaly
VACTERL Syndrome: vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, renal abnormalities, limb abnormalities
Caudal Regression/Sacral agenesis

20
Q

What is derived from the prosencephalon?

A

Telencephalon: cortex, amygdala, caudate, putamen
Diencephalon: thalamus, hypothalamus, globus pallidus

21
Q

How does the diagnosis of pediatric hydrocephalus differ from adults?

A

The diagnosis requires a head circumference >2 SD for gestational age or inc in head circumference >2SD during first year of life

Elevated ICP is not usually seen until after cranial sutures close

22
Q

What kind of developmental failure leads to agenesis of corpus callosum? Associated with what disease?

A

Midline Prosencephalic Cleavage failure

Associated with Aicardi Syndrome (IDD, Myoclonic Epilepsy, Chorioretinal abnormalities, vertebral abnormalities, Agenesis of Corpus Callosum, Polymicrogyria)

23
Q

What are examples of prosencephalic development failure? (3)

A
  1. Holoprosencephaly
  2. Septo-optic dysplasia
  3. Agenesis of corpus callosum
24
Q

What are the chromosomes associated with neural tube defects? Teratogens?

A

Trisomy 13/18

Valproate, Phenytopin, thalidomide

25
Q

Answer the following high yield points for myelination:

  • When does myelination begin?
  • Does the PNS or CNS myelinate first?
  • What are the earliest structures to be myelinated
  • What is the most rapid myelination period?
A
  • 4 month of gestation
  • PNS myelinates first
  • Earliest structures at 14 weeks: MLF, dorsal roots, cranial nerves (except II, VIII, V)
  • Rapid myelination: birth - 2 years
26
Q

Describe the neural tube formation process

A

Notocord -> Formation of neural plate (from ectoderm) —> Neural tube formation vita neurulation (3-6wk)

Neural tube gives rise to Neural Crest Cells, Anterior Neuropore (Defects: Ancephaly, Encephalocele), Posterior neuropore (Spina bifida, myelomeningocele)

Neural crest cells derived from the neural tube gives rise to PNS, adrenal medulla, chromatin tissue, melanocytes

27
Q

What are the two x-linked hydrocephalus syndromes? Mutation?

A

Mutation: L1CAM (cell adhesion)

  1. MASA Disorder: M-MR, A-Aphasia, S-Shuffling gait, A- Adducted thumbs
  2. X-linked aqueduct stenosis: Adducted thumbs, agenesis of corpus callosum, brain stem malformation, hypoplastic corticospinal tracts
28
Q

What syndrome is this?

  • Brahycephaly (short head)
  • Soft tissue syndactyly
  • Short upper extremities
  • Intellectual Disability (IDD)
A

Alpert Syndrome

29
Q

When does the neural tube close? Anterior neuropore? Posterior neuropore? Secondary neurulation (caudal neural tube formation)

A
  • Closure of neural tube: Day 22
  • Anterior closure: Day 25
  • Posterior closure: Day 27
  • Secondary neurulation forms sacral/coccygeal/filum terminals/ventricular terminalis: Days 28-32
30
Q

Describe hydranecephaly? Causes?

A

Cerebral hemispheres are absent and replaced by CSF

- Caused by destructive process (microcephaly) or hydrocephalus (macrocephaly)

31
Q

What type of developmental failure causes spina bifida?

A

Neuralation during the closure of vertebral arches

32
Q

What disorder is Polymicrogyria common in?

A

Zellweger Syndrome

33
Q

What are three kinds of heterotopia (and associated gene)?

A
  • Focal Cortical Dysplasia
  • Periventricular Heterotopia (Filamin Gene)
  • Laminar (Band) Heterotopia (DCX/Doublecortin gene - Females only)
34
Q

What syndrome is this?
- Brachyencephaly results in shortened depth of anterior cranial fossa leads to multiple CN lesions (conductive hearing loss)

A

Crouzon Syndrome

35
Q

What is derived from mesencephalon?

A

Midbrain

36
Q

Define Dandy-Walker Malformation? Associations?

A

Most severe form:

  • Absence of cerebellar vermis
  • Large posterior fossa
  • Cystic dilation of 4th ventricle
37
Q

Name all 6 layers of cerebral cortex. When are they present in gestation?

A

27 weeks

  1. Molecular layer
  2. External granular layer
  3. External pyramidal layer
  4. Internal granular layer
  5. Internal pyramidal layer
  6. Multiform layer
38
Q

Define the difference in presentation for the vein of Galen malformations (caused by direct arterial connections):

Neonatal, Infantile, Childhood, Adult

A
  1. Neonatal: shunt involves sig proportion of cardiac output; presents as high-output CHF
  2. Infantile: Hydrocephalus from obstruction of aqueduct of Sylvia season by enlarged veins of Galen
  3. Childhood: Presents as IDD, Seizures
  4. Adult: Hemorrhagic infarction
39
Q

Name these malformations:

  1. Few gyri that are broad and thick
  2. Numerous small gyri
A
  1. Pachygyri

2. Polymicrogyri

40
Q

What are the 4 subtypes of spina bifida? Describe the differences

A
  1. Spina bifida occulta: incidental defect in dorsal bony vertebrae, cord remains in canal with no external sac
  2. Meningocele: meningeal outpouching that does not contain neural tissues & covered by skin, minimal association with brain malformation
  3. Myelomeningocele: failure of posterior neuropore closure; meningeal outpouching includes neural tissue; associated with Chiari Type II —> Hydrocephalus from the cerebral aqueduct stenosis
  4. Myeloschisis: neural elements uncovered, v bad prognosis = stillborn babies
41
Q

What syndrome is this:

  • Congenital Muscular Dystrophy
  • Lissencephaly
  • Cerebellar malformation
  • Retinal malformation
  • Macrocephaly
A

Walker-Warburg Syndrome

42
Q

Describe the difference between Lissencephaly Type I vs Type II? (appearance, gene, failure of developmental process, associated diseases)

A

Type 1: Smooth Brain, Few to no gyro, LIS1 gene (Miller-Decker) or DCX gene in Males (X-linked)

Type 2: Failure of neurons to terminate radial migration in cerebral cortex, Cobblestone, Fukuyama Muscle Dystrophy, Walker-Warburg Syndrome)

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