14 Congenital Anomalies of CNS

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1. When do by the end of first 4 weeks of gestation, 11. Most common anencephaly
neural tube incomplete fusion of neural tube at any point congenital
defects occur along the neuraxis malformation of
and why? brain in human
fetuses
2. What axial skeleton
develops 12. What symptoms do blind, deaf, unconscious, cannot feel
around the infants with pain
neural tube? anencephaly have
3. Two 1) failure of neural tube closure, with 13. Prognosis of often stillborn, or die within a few
pathologic secondary bony defects 2) bony defects, anencephaly hours or days after birth
mechanisms reflecting abnormal axial mesodermal
14. Craniorachischisis the whole neural tube never closes
of neural tube development
malformations 15. Myelomeningocele a defect in neural tube closure; both
meninges and spinal cord herniate
4. What two lab alpha-fetoprotein (AFP) and
through a large vertebral defect,
tests are used acetylcholinesterase in maternal serum and
usually in lumbosacral region
for early amniotic fluid (present when neural tube
prenatal "open" -- lacking skin over exposed 16. MOMS trial Management Of Myelomeningocele
screening for meninges or neurolgial tissue) surgery in utero
NTDs? 17. Meningocele a defect in axial mesoderm; herniation
5. How can you periconceptual folic acid supplementation of arachnoid and dura through a
prevent NTDs vertebral bony defect, covered by an
atrophic epidermis; lumbosacral
6. Two main primary tube closure defects & primary axial
region; variant of spina bifida cystica
categories of mesodermal defects
neural tube 18. What happens to remains within the spinal canal, but
defects: the spinal cord in may show abnormalities i.e. splitting,
meningocele? tethering, and hydromelia
7. What anencephaly, myelomeningocele
disorders fall 19. Hydromelia dilated central canal
under primary 20. Spina Bifida meningocele and myelomeningocele
tube closure Cystica
defects? encompasses what
8. What encephalocele, meningocele, split cord, two disorders
disorders fall Spina bifida occulta, hydromelia 21. Encephalocele axial mesodermal defect; protrusion of
under Primary brain and meninges thorugh a
Axial CRANIAL DEFECT; usually in occipital
Mesodermal region; large lesions with ulceration of
defects? overlying skin and secondary infection
9. What does failure of anterior neural tube closure with 22. Arnold-Chiari 1) herniation of CEREBELLUM into
anencephaly secondary maldevelopment of the cranial (Chiari Type II) foramen magnum. 2) downward
result from vault enclosing the brain malformation, 3 displacement of brainstem -->
10. Manifestations absence of the forebrain and most of characteristiscs brainstem deformity. 3)
of calvaria; shallow orbits; protruding eyes -- myelomeningocele; usually
anencephaly brain initially protrudes through defect in hydrocephalus present
skull but gets destroyed, leaving an irregular 23. Spina Bifida mildest NTD; failure of tail bud dvl, or
mass of vascularized tissue Occulta failure of closure of bony canal; NO
(cerebrovasculosa) STRUCTURAL HERNIATION; dura is
intact
24. What causes cystic loss of
tissue: encephaloclastic
defects?
25. What is the result of
encephaloclastic defects?
26. Lesions are often unilateral
or bilateral? Where do
encephaloclastic defects
occur?
27. Are the cystic brain lesions
primary or secondary?
28. What do lesions that occur
later in gestation form?
29. Hydranencephaly
30. Porencephaly/schizencephaly
31. Multicystic encephalopathy
32. Failure of forebrain induction
33. What are craniofacial
abnormalities associated
with?
Hypoxic-ischemic insult
during critical periods of
CNS development
large, smooth-walled
neocortical defects
(cavitary, bubble-like space
in neocortex) -- strong
macrophage response leads
to resorption of tissue with
no scar formation early in
development
bilateral; occur along
vascular distributions
SECONDARY
many cysts within the cortex
and underlying subcortical
white matter
most severe
encephaloclasteic defect;
fluid-filled bubble-like
neocortex with a thin semi-
translucent membrane;
minimal psychomotor
development with spasticity
and epilepsy; unlikely
survival past neonatal
period if deep nuclei of
hemispheres are affected
communication between
ventricle and brain surface.
"Basket brain" = bilateral
porencephalic defects
fatal; reduced fetal
movement or perinatal
asphyxia; seizures,
hypotonia, and
microcephaly common
failure of vesicles of the
telencephalon in outgrowth,
separation and commissure
development
hemispheric disorders
34. Holoprosencephaly failure of outgrowth and cleavage of
the prosencephalic vesicles
(telencephalon and diencephalon) --
cerebral hemispheres fail to separate;
result: single cerebrum with common
ventricle, or partial fusion of
hemispheres
35. Severe form of alobar; small, horseshoe shaped
holoprosencephaly cerebrum with midline facial defects;
cyclopia (fused orbits), proboscis
36. Proboscis cylindrical protuberance of the face
which represents the nose
37. Less severe form partial separation of hemispheres
of (semi-lobar); hemisphere separation
holoprosencephaly with continuity of cerebral cortex
across midline at frontal pole (lobar)
38. factors that cause maternal diabetes, fetal alcohol
holoprosencephaly syndrome, Trismoy 13
39. Olfactory Aplasia arhinencephaly; associated with
holoprosencephaly; absence of
olfactory bulbs and tracts
40. Agenesis of Corpus can be total/partial; may be in
Callosum isolation or associated with other
things like holoprosencephaly; can be
from mechanical barrier, like a
hamartoma or mass lesion, or lipomas
block dvl of parts of callosum;
cerebral and visceral anomalies
41. Dandy-Walker failure of hindbrain induction; cystic
Malformation dilated fourth ventricle with agenesis
of cerebellar vermis and enlargement
of posterior fossa
42. What is associated hydrocephalus, callosal agenesis, and
with Dandy-Walker polydactyly
Malformation?
43. When does clinical presentes really in life; hydrocephalus,
presentation of poor head control, motor retardation
Dandy-Walker
occur? How?
44. List the neuronal agyria & pachygyria; polymicrogyria;
migration defects heterotopias; nodular cortical
dysplasia
45. Agyria lissencephaly; thickened cortex;
smooth brain with absecne of gyri
46. Pachygyria decreased number of gyri; gyri that are
present are increased in width
47. What is the calvaria calvaria small, contains a small light
like in brain
agyria/pachygyria?
48. Is agyria can be ither -- lissencephaly-1 gene, i.e. 62. Megaloencephaly brain weight greater than 2.5 std
sporadic or deviations above mean for age and sex;
familial? may be isolated, familial, or assoc with
achondroplasia, endocrine disorders, or
49. Polymicrogyria multiple miniature malformed
inborn errors of metabolism
convolutions in the cortex, piled on top of
each other like cobblestones 63. Lysosome intracellular, membrane-bound organelle
with an ACIDIC pH
50. Etiologies of inherited disorders, intrauterine ischemia,
polymicrogyria twinning, intrauterine infection, metabolic 64. What enzyme acid hydrolases
dz does lysosme
contain?
51. Heterotopia collection of normal cells in abnormal
location 65. Job of lysosome degradation of macromolecules
52. Nodular collections of normal neurons in areas 66. What causes defects in lysosomal enzymes or other
heterotopia where they would not be found (i.e. in accumulation of molecs involved in catabolic process
white matter) macromolecules? (post-tln protein modification or portein
transport) --- > intraceullular storage
53. Etiologies of exogenous fetal insults: sustained
bodies
heterotopias maternal hyperthermia & radiation, and
familial syndrome (X-linked supependymal 67. Lysosomal the type of material that accumulates
heterotopia, affects cell migration) storages disease
are classified
54. Nodular cortical "brain warts" - superficial cortical nodules
according to
dysplasia across brain surface; deep layers of cortex
"herniate" through the brain surface into 68. Sphingolipidoses affect enzymes that degrade
leptomeninges (over-migration) sphingolipids (i.e. ceramides,
cerebrosides, gangliosides)
55. Leptomeningeal neurons grow IN leptomeninges --> at risk
glioneuronal for seizure disorders 69. Tay-Sach's is part GM-2 gangliosidoses disease family
heterotopia of what disease
family?
56. How much does doubles in size
brain grow in 70. What GM-2 ganglioside accumulates primarily
first year of accumulates in in NEURONAL cells
life? Tay-Sach's? In
what cells?
57. How much does quadruples in size
brain grow in 71. Enzyme lysosomal enzyme hexoaminidase A
first three years deficiency in Tay-
of life? Sach's
58. Indirect head circumference 72. Inheritance of autosomal recessive
measure of Tay-Sach's
brain size
73. Physical signs in macular cherry red spots (= cells full of
59. Microcephaly strongly correlated with microencephaly, infants with Tay- macromolecules, block the vasculature,
which is assoc with intellectual disability Sach's so only see a few red spots and the rest
"white"), and macrocephaly
60. Primary neurogenesis (first critical period;
microcephaly environmental = FAS, malnutrition, 74. Most common developmental arrest, abnormal startle
intrauterine infection; genetic = autosomal initial symptoms response, low muscle tone; death
recessive primary of Tay-Sach's between age 3-5yo
61. Secondary dendritic processes or synaptic 75. List the Niemann-Pick, Gaucher, Fabry's, Krabbe,
microcephaly connections (second critical period), Rett sulfatidoses Metachromatic leukodystrophy
syndrome, cerebellar atrophy with
76. Gaucher disesae autosomal recessive
progressive microcephaly
inheritance
77. What glucosylceramide 90. When do Krabbe dz infancy
accumulates patients present?
in Gaucher
91. How do Krabbe dz pts developmental failure,
disease
present? deteriorating motor function and
78. Defect in hydrolase Beta-glucocerebrosidase blindness; extensive demyelination
Gaucher dz due to apoptosis of myelin
forming cells
79. Most Gaucher
common 92. What accumulates in sulphatide
lysosomal metachromatic
storage leukodystrophy
disorder
93. What is the deficiency arylsulphatase-A
80. Organs spleen and bone; splenomegaly with mental in metachromatic
especially deterioration leukodystrophy
affected by
94. Primary pathology in demyelination in CNS with
Gaucher
metachromatic deposits of metachromatic (areas
81. Neimann- sphingomyelinase leukodystrophy staining abnormally) material
Pick
95. Glycogenoses metabolic defect in synthesis or
deficiency
catabolism of glycogen
82. What sphingomyelin
96. Pompe's (Type II multi-organ, defect in acid
accumulates
glycogenosis) maltase (lysosomal storage
in Neimann-
enzyme) -- storage of glycogen
Pick
affecting all organs including
83. Typical within the first year of life; failure to thrive, brain; prominent CARDIOMEGALY
presentation wasting, visceral accumulation of
97. Mucopolysaccharidoses deficiency in degrading
of Neimann- sphingomyelin (Hepatosplenomegaly, esp.
(MPS) mucopolysaccharides (long
Pick dz SPLEEN), progressive mental deterioration,
complex carbs linked with
spasticity & epilepsy, early death in first few
proteins to form proteoglycans --
years of life
abundant in ground substance of
84. Fabry's alpha galactosidase A connective tissue)
disease,
98. What kinds of progressive disorders; mutli-organ
what is the
symptoms in MPS? inovlvement; coarse facial
deficiency?
features, corneal clouding, joint
85. What ceramide trihexoside and ceramide dihexoside stiffness, intellectual disability
accumulates
99. Hurler's (MPS I H) what alpha-1-iduronidase
in Fabry's
is the deficiency?
disease?
100. Symptoms of Hurler's one of the most severe forms of
86. Where does renal, cardiac, and vascular wall including
MPS; hepatosplenomegaly in
lipid vessels of brain; PNS and CNS neurons --
infancy; death in early childhood
accumulate? membrane-bound lamellae (i.e. granular
material in dorsal root ganglion neurons) 101. What is the most Neuronal ceroid lipofuscinoses
common group of
87. Krabbe globoid cell leukodystrophy -- a lysosomal
children's progressive
Disesae storage disorder
encephalopathies?
88. Deficiency galactoceramidase
102. What are neuronal inherited lysosomal storage
in Krabbe dz
ceroid lipofuscinoses diseases
89. What psychosine, within myelin-forming cells (CNS
accumulates oligodendrocytes and PNS Schwann cells)
in Krabbe dz
and where
103. What is lipofuscin a wear-and-tear pigment found in brain and other organs with age (brown pigment
granules represent lipid-containing residues of lysosomal digestion)
104. What accumulates neuronal ceroid pigmented, autofluorescent, PAS-positive material; IN NEURONS
lipofuscinosis? Where is the accumulation?
105. Symptoms of neuronal ceroid atrophy and neuronal loss --> dimentia and blindness
lipofuscinoses
106. What is seen on EM in neuronal ceroid curvilinear bodies, FINGERPRINT PROFILES, and granular deposits
lipofuscinoses?