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Neuropysch > Malformation > Flashcards

Malformation Flashcards

1
Q

cephaly

A

meh

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2
Q
  • Anatomic pattern of malformation reflects ______at time of injury
  • Prenatal or perinatal insults may cause failure of development and/or tissue destruction
  • Contributing factors:
A

stage of brain formation

  • Genetics
  • Environment (toxins, vascular compromise, infections, etc.)
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3
Q

=intrinsic abnormality

=extrinsic force

= destructive force

A

Malformation

Deformation

Disruption

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4
Q

Path of normal devo in CNS

A

 Induction –> Neural tube formation –> Regionalisation and specification –>Proliferation and migration –> Connection and selection

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5
Q

Neural tube –>Brain & Spinal cord Neural crest –> PNS & leptomeninges

when does this occur?

A

Neurulation: 3-4 weeks

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6
Q

Paired cerebral Hemispheres, LV, BG, Thalami, Optic Nerves/ chiasmCC, SP

what is this, when does this occur?

A

Prosencephalic: 2-3 months

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7
Q

Full complement of neurons in cerebral hemispheres : seen at

A

3-4 months; Neuronal proliferation

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8
Q

Formation from 4 layered embryonic cortex–>6 layered adult cortex

seen in:

A

3-5 months: Neuronal migration

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9
Q

Synaptogenesis–> programmed Cell death

then

Formation of myelin –> increased electrical conduction

A

Organization 5 to postanal

Myelination: birth to postanatal

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10
Q

Development of the Neural Tube & Axial Skeleton

  • Neural tube closure occurs early in _____
  • Closure occurs at several sites along neuraxis****-Failure of closure at these sites results in v
A

gestation (28 days)

arying types of defects (anencephaly, spina bifida)

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11
Q

How does suclation in brain occur?

A

5 months: major fissures

7 months: secondary sulci

9 months: tertiary sulci

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12
Q

Pattern of cerebral myelination

A

POsterior frontal/parietal/occiput–>

frontal and temporal complete–>

cerebrum by end of 2nd year

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13
Q

Where do se wee most issues with cerebral architecture?

A

deeper elements usually disorganize

different genes have different effect on layers

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14
Q

Most common category of CNS malformations
Disturbance of formation of neuroectodermal and/or overlying mesodermal structures

A

Neural tube defects

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15
Q

Pathogeneis of neural tube defect

 _______ of neural tube-primary failure of neuroectoderm or mesoderm

OR

 Reopening or secondary rupture of ____

A

Failure of closure

closed tube

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16
Q

 Spina bifida

 Anencephaly

Encephalocele

A

neural tube defects all Primary defects of closure

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17
Q

Failure of closure of the neural tube allows excretion of fetal substances such as ______ into the amniotic fluid.

Diagnosable by ultrasound and/or prenatal screening of maternal serum for _____ at 16-18 wks

Maternal periconceptional use of ____ supplementation reduces the incidence of NT defects by at least 50%

A

(AFP, acetylcholinesterase)

AFP at 16-18 week GA

folic acid

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18
Q

What is spina bifida?

less severe forms?

A
  • Combined malformations of vertebral column & spinal cord
  • Spina bifida occulta – least severe form
  • Spina bifida cystica (80-90% lumbosacral)
  • Meningocele (less common – 10-20%)
  • Myelomeningocele (more common – 80-90%)
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19
Q
  • Non-closed vertebral arches without visible lesion (externally)
  • Most often lumbosacral
  • Often asymptomatic
A

Oculta

(May be foot & gait abnormalities, In some, patches of hair, lipoma, discoloration of skin or dermal sinus may be present )

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20
Q

Dx of Occulta

  • Spine x-ray: defect in closure of the ________, usually in L5 and S1
  • May be associated with syringomyelia, diastematomyelia, and tethered cord
  • Recurrent meningitis of occult origin should prompt careful exam for ____
A

posterior vertebral arches and laminae

dermal sinus tract

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21
Q
  • Cyst lined with meninges & dura (but no spinal cord), herniated through vertebral defect
  • Spinal cord may be normal, or may present with tethering, syringomyelia, or diastematomyelia
  • Most are lumbosacral
A

Meningocele

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22
Q

Symptoms of meningocele

A
  • Little or no neurologic deficit
  • Anterior meningocoele may project into the pelvis through a defect in the sacrum causing symptoms of constipation and bladder dysfunction
  • Female patients may have associated anomalies of the genital tract (rectovaginal fistula, vaginal septa)
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23
Q

Dx and Tx of meningocele

A

• Diagnostic testing: plain x-ray, MRI for the spine, CT of the head to rule out HCP

  • Asymptomatic : with no neuro findings and full-thickness skin may have surgery delayed.
  • Patients with leaking CSF or a thin skin covering should undergo immediate repair to prevent meningitis.
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24
Q

Both meninges & spinal cord herniated through vertebral defect, usually broad-based

• Cyst (“cele”) often ruptures and skin covering absent

A

Myelomeningocele

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25
Q

Cord abnomaliteis seen in myelomeningocele adn location

A
  • Variable cord abnormalities :Complete disorganization and flattening or Slight midline opening
  • Most (75%) are lumbosacral
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26
Q

Sings and symptoms of myelomeningocele

A
  • CM: flaccid paralysis, absent DTRs, sensory deficit below the affected level, postural abn of the LE (clubfeet, subluxation of the hips), constant urinary dribbling and a relaxed anal sphincter
  • Weakness or flaccid paralysis, sensory loss, bowel/bladder dysfunction
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27
Q

Complicationos myelomeningocoele

A

Complications: meningitis, hydrocephalus, pneumonia

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28
Q

We can see this issue in pts that have hydrocephalus and myelomeningocole

A

Type II chiaria defects

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29
Q

symptoms of hindbrain dysfunction: difficulty feeding, choking, stridor, apnea, VC paralysis, pooling of secretions, spasticity of UEs

A

Infants with HCP and Chiari II

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30
Q

is due to downward herniation of the medulla and cerebellar tonsils

A

Chiari crisis

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31
Q

Tx for myelomingocoele

A
  • Requires a multidisciplinary approach: surgeon, therapist, pediatrician
  • Surgery: repair and shunting; orthopedic procedure, urologic evaluation
  • GUT: regular catheterization to prevent UTI and reflux leading to PN and hydronephrosis, urine cult, serum elec, creatinine, renal scan, IV pyelogram, Utz
  • Rehab: functional ambulation (sacral or LS lesion
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32
Q

Prognosis for myelomeningocoele

A
  • MR- 10-15%
  • Most deaths occur before age 4 years
  • 70% have normal intelligence, but learning problems and seizure disorders are common
  • History of meningitis or ventriculitis adversely affect the ultimate IQ
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33
Q

Large defect of the calvarium, meninges, and scalp associated with a rudimentary brain which results from failure of closure of the rostral neuropore

A

Anecephaly

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34
Q

Dx anecephaly

A

Diagnosed by increased AFP in amniotic fluid
Primitive brain consists of portions of connective tissue, vessels and neuroglia

Cerebral and cerebellar hemispheres are usually absent, and only a residue of the brainstem can be identified **(Eyes and cranial nerves V-XII intact) **

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35
Q

Anecephaly is large defect of the calvarium, meninges, and scalp associated with a rudimentary brain which results from failure of closure of the

A

rostral neuropore

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36
Q

Broad-based pedunculated masses of cerebral tissue & dura protruding through cranial defect, covered by skin

Occipital region is most common site, although frontal/nasal locations are more common in some countries

A

Encephalocele

37
Q

Encephalocele: Definition

Broad-based pedunculated masses of ____ and ____ protruding through cranial defect, covered by skin

____region is most common site, although frontal/nasal locations are more common in some countries

A

cerebral tissue & dura

Occipital

38
Q

Encephalocele

Tissue mass is attached by_____

_____location: “nasal glioma”

Disorganization of remaining brain in cranial cavity

A

pedicle

Ethmoidal

39
Q

Dx of Encephalocele

A
  • Diagnosis:
  • Plain x-ray of the skull and cervical spine
  • Cranial utz
  • In utero: AFP, biparietal diamete
40
Q

AR condition, occipital encephalocoele, cleft lip or palate, microcephaly, microphthalmia, abnormal genitalia, polycystic kidneys, and polydactyly

A

Meckel-Gruber syndrome: spectrum of encephalocele

41
Q

Forebrain anomalies

• Disorders of _____ and ______

* Polymicrogyria
 * Agyria and Pachygyria

  • Disorders of______ of forebrain
  • Arrhinencephaly: Holoprosencephaly • Olfactoryaplasia

Agenesis of corpus callosum

A

migration and sulcation

cleavage

42
Q
  • Polymicrogyria (too many foldso)
  • Agyria (lissencephaly) and pachygyria (too few folds)
A

Forebrain shit from migraiton and sulcation

43
Q

Patho of migration/sulcation issues of forebrain

  • Disturbance of process of neuronal migration from _____ to ______
  • ______ is induced by presence of normally migrated neuronal population
A

germinal matrix to cortex

Sulcation

44
Q

Too many irregular small fused gyri that Results from disordered organization of the neurons in the cortex at the time of migration

• Neuriteextension,synaptogenesis,&maturation

A

POlymicrogyria

45
Q

Cuase of polymicrogyria

A
46
Q

GRoss pathology:

  • -Many small gyri fused together
  • -Cortical ribbon is thin & excessively folded & fused –Two or four cortical layers
A

polymicrogyria

47
Q

Cause of Agyria

  • Neurons migrate only part way to cortex, so gyri don’t form correctly (or at all), occurs around the _____of gestation
  • Several genetic types: association with mutations on ___ and ___
A

4th month

chr 17 and X chromosome

48
Q

Agyira,

Seizures, mental retardation, lissencephaly

  • Deletion in LIS1 gene on chr. 17
  • prominent forehead, bitemporal hollowing, anteverted nostrils, prominent upper

lip, micrognathia
• (90% with chromosomal deletions of 17p13.3- lissencephaly I gene)

A

Miller Dieker syndrome

49
Q

Clinical S/S in pts with agyria and pachgyria

A
  • failure to thrive• Microcephaly • marked developmental delay • severe seizure disorder
  • hypoplasia of the optic nerve • microphthalmia
50
Q

Sometimes the pattern of agyria allows prediction of _____

Females with ____have imaging abnormalities distinct from other agyrias

A

the causative gene

DCX mutation

51
Q

Thickened cortical ribbon consists of four layers

A

pachygyria

52
Q
  • Unilateral or bilateral clefts within the cerebral hemispheres due to an abnormality of morphogenesis
  • The cleft may be fused or unfused, and is usually surrounded by abnormal brain, microgyria
A

Schizencephaly

53
Q

Present with severe MR, intractable Szs, microcephaly, spastic quadriplegia when clefts are bilateral

A

Schizencephaly

54
Q
  • Absence of olfactory tract/bulbs
  • But usually much more missing than the olfactory brain….
  • Holoprosencephaly and olfactory aplasia
A

Arrhinencephaly: forebrain cleavage defect

55
Q

Severity of craniofacial defect mirrors severity of underlying brain abnormality

  • “The face predicts the brain”
  • Cyclopia - most severe
  • Hypotelorism – minimal chang
A

arrhinecephaly or forebrain cleavage defects

56
Q

Forebrain cleavage defect path:

Attributed to absent cleavage of forebrain, during the ____ to____week of gestation

Usually sporadic and Autosomal dominant form associated with mutation in :

Also associated with Trisomies

Association with EtOH, Accutane (retinoic acid) during pregnancy & diabetes

A

4th to 6th

Sonic Hedgehog gene (SHH) on 7q26

57
Q

• Incomplete separation of hemispheres

A

Holoprosencephaly

58
Q

Small brain

Cerebral hemispheres fused into single mass with no interhemispheric fissure: single large ventricle

Hypoplasiaofcortex

A

Alobar holoprosencephaly

59
Q

______ holoprosencephaly = Partial formation of interhemispheric fissure

•_____ holoprosencephaly = Midline continuity of cortex at frontal pole with almost normal brain size - often associated with craniofacial anomalies

A

Semilobar (on 1st page)

Lobar

60
Q

Clinical S/S holoprocephaly

A

• Clinically, present with profound MR, seizures, rigidity, apnea and temperature imbalance; HCP can develop with aqueductal obstruction; endocrine disorders can present with hypothalamic or pituitary malformations

61
Q

Facial abnormalities include cyclopia, cebocephaly, and premaxillary agenesis

A

Holy-hell-procephaly

62
Q

Dx for holoproencephaly

A

Diagnostic testing: facial x-ray to show deformed anterior craniobasal bones, cytogenetics, MRI.

EEG, VER, ABR are generally abnormal.

63
Q

Agenesis of Corpus callosum

  • Results from an insult to the ______during embryogenesis
  • No corpus callosum or cingulate gyrus thus gyri extendd_____ to 3rd ventricle roof

______ - stumps of white matter at edge of cortex

A

commissural plate

perpendicular

64
Q

Symptoms or association of no corups callosum

A

associated migration defects (heterotopia, microgyria, pachygyria) may

present with MR, microcephaly, hemiparesis, diplegia and seizures

May be Frequently found in assoc. with other malformations

• Aicardi syndrome – X-linked, chorioretinal defects, seizures

65
Q

imaging for agenesis of Corpus callosum

A

Widely separated frontal horns with an abnormally high position of the 3rd ventricle

66
Q

Patients are almost all females (may be lethal in males)

Characterized by severe MR, intractable seizures with onset between birth and 4 months of age, and chorioretinal lacunae. Hemivertebrae and costovertebral anomalies are common.

A

Aicardi Syndrome

EEG: independent activity from both hemispheres as a result of the absence of the CC

67
Q

• Associated with: • Hydrocephalus

  • Sudden death
  • May haveneurologic signs/symptoms
  • Cranial nerve palsies • Ataxia • Long tract signs
  • May be asymptomatic
A

• Type 1 – chronic tonsillar herniation

68
Q

Type I Chiari malformations

  • 90% also have:
  • No known genetic or associated risk factors at present
A

syringomyelia

69
Q

What does Type I Chiari look like on MRI

A

chronic tonsillar malformation

70
Q

Herniated cerebellar tissue through foramen magnum with displacement of dorsal medulla causing a hump or Z-shape in brainstem/spinal cord

• Associated with lumbar myelomeningocele

A

Type 2 Chiari Malformation (Arnold-Chiari malformation)

71
Q

(Chiari 2 is present in >95% of children with_______)

A

myelomeningocele

72
Q

• Lower cranial nerve defects (swallowing, respiration)

  • Arm weakness, spasticity
  • S/S referable to hydrocephalus
A

Type 2 Chiari or Arnold chiari

73
Q

Etiology for Type II arnold-Chiaria malformation

A

Vitamin A deficiency (maternal) associated with Chiari II & myelomeningocele

No genetic associations yet found

Pathogenesis (hypothesis): Disproportion between growth of posterior fossa & its contents (posterior fossa too small) causes kinking of medulla & “squashing” of cerebellum into spinal canal

74
Q

Disproportion between growth of posterior fossa & its contents (posterior fossa too small) causes kinking of medulla & “squashing” of cerebellum into spinal canal

A

Type 2 Chiari Malformation (Arnold-Chiari malformation)

75
Q

• Agenesis of vermis (Key Feature)

Cystic dilatation of 4th ventricle

Enlargement of posterior fossa

Hydrocephalus is frequently present

A

Dandy Walker malformation

76
Q

Risk factors

associated findings

etiology

of Dandy Walker

A
  • Associated with motor retardation, spasticity, and respiratory failure
  • Risk factors: Isotretinoin use during pregnancy
  • Etiology:• Most cases are sporadic • Assoc.w/trisomies
77
Q

Fluid filled cleft-like cavity in spinal cord

  • Cavity extends transversely cross cord crossing behind the central canal
  • Usually largest in cervical regions
A

Syringomyelia

78
Q
  • Association with Chiari type 1 malf.(90%)
  • Also seen post trauma and in assoc. with spinal cord tumors
A

syringomyelia

79
Q

Loss of pain/temperature, retention of position and vibration senses & motor function.

Onset of symptoms in 2nd/3rd decades; progressive

see fluid filled cleft like cavity in spinal cord

A

Syringomyelia

80
Q

Perinatal Hypoxic/Ischemic & Hemorrhagic Lesions :

Hypoxia/ischemia • _____ matter: White matter_____ (periventricular leukomalacia)

• Both gray & white matter: ______

A

White

necrosis

Multicystic encephalopathy

81
Q

Symptoms of Perinatal Insults: Cerebral Palsy

  • _______neurologic motor deficit • Spasticity, dystonia, ataxia/athetosis, paresis
  • Attributed to insults occurring in the ____ and ______
  • Wide range of neuropathologic findings
  • Often hypoxic/ischemic or hemorrhagic events
A

Non-progressive

fetal and perinatal periods

82
Q

• Sharply defined foci of necrosis in WM

  • Gross discrete chalky yellow plaques
  • May eventually cavitate
A

White matter necrosis: Periventricular leukomalacia

83
Q

Who do we see Periventricular leukomalacia in

A
  • Common in premature infants with ischemia/hypoxia
  • Also occurs in full-term infants with cardiac or pulmonary disease
84
Q

Pathogenesis of pervientricular leukomalacia

A

• Selectively vulnerable oligodendrocytes

  • Impaired perfusion of boundary zone
  • Poor cerebral vascular autoregulation
85
Q

What do we see on histo in periventricluar leukomalacia?

A
  • Central zone of necrosis
  • Surrounding mineralization axon
86
Q

• Destruction of both gray and white matter in 3rd trimester

  • Sponge-like glial lined cysts remain
  • Attributed to extensive hypoxia/ischemia
A

multicycstic encephalopathy

87
Q
  • Originate in periventricular germinal matrix
  • Most frequently in germinal zone overlying head of caudate and thalamus
  • Frequently break through into ventricular system or underlying parenchyma
A

Subependymal Germinal Matrix Hemorrhages

88
Q

Causes for Subependymal Germinal Matrix Hemorrhages

A

• Onset related to extreme physical distress (most often in the context of prematurity)

  • Perinatal occurrence
  • Hemodynamic instability
  • Mechanical ventilation
  • Hyaline membrane disease
89
Q

Grading for subependymal hemorrhages

Grade 1 – Confined to ____

Grade 2 – Germinal matrix & lateral ventricle, no _____

Grade 3 - Germinal matrix & lateral ventricle, with ______

Grade 4 – As above with extension into _____

A

germinal matrix

ventricular dilatation

cute ventricular distention

adjacent brain parenchyma

Neuropysch (18 decks)

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