malformation and developmental diseases Flashcards

1
Q

Pathogenic mechanisms

A

Malformation- intrinsic abnormality
Deformation- extrinsic force
Disruption- destructive force

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2
Q

Deformation sequence

A

Renal ageneisis–> lack of urine into amniotic cavity, death from respiratory insufficiency, fetal compression, altered facies, abnormal positioning of hands and feet, breech presentation

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3
Q

amniotic band disruction

A

wrap around organs and stuff

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4
Q

normal development of the CNS

A

induction, neural tube formation, regionalization and specification, proliferation and migration, connection and selection

Very early in development (3-4 weeks) 3-4 months most of neurons in cerebral hemispheres0 6 latered cortex in 6 mothns

Myelination towards the end

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5
Q

Development of the neural tube

A

tub closure early in gestation, closure occus first in thoracic, then head than face then cab of head and finally the cuadal end

failure of clousure–> ancephaly, spinabfida

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6
Q

Oattern of cerebral myelination

A

posterior fronal lobes, than bottom (from top to bottom

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7
Q

cytoarchitecture of cerebral cortex

A

the bottom layers are most susceptible to wwiered mixed architecture, if its messed up the person is susceptible to seizures, (the higher the malforamtion)

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8
Q

Nueral tube defects

A

Most common category of CNS malformation, disturbance of formation of neuroectodermal and or overlying mesodermal strucutes

Trisomy 13, 18

Environment during pregnancy- folate deficiecny, maternal diabetes, hyperthermia, alcohol, valproic acid

Pathogenesis- failure of closure of neural tube- primary failure of neuroectoderm or mesoder, or reopening or secondary rupture of closed tube

Main categories (spina bfida, anencephaly, encephalocele

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9
Q

Detection and prevention of Neural tube defects

A

failure of closure of the neural tube allows excretion of fetal substances (AFP, acetylcholinesterase) into the amniotic fluid

Diagnosable by ultrasound and/or prenatal screenin of maternal serum for AFP at 16-18 week

Maternal periconceptional use of folate reduces risk by 50%

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10
Q

spina bifida

A

combined malformation of vertebral column and spinal cord, spina bifida occulta least severe

Spina bifida cystica (meningocele, myelomeningocele more common)
x ray, l5 s1

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11
Q

Myelomeningocele

A

can herniate out of the bdy

treatment- prenatally through screening to gaurd the neural tissue

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12
Q

Myelomeningo cele

A

drugs, folate (trimetho prm lead

extent and degree of symptoms depend on the location, flacid paralysis, absent deep tendon reflexes,

Chiari - type 2 herniation, chiari crisis when the brain gets pushed down

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13
Q

myelomeningocoele treatment

A

requires a multidisciplinary approach surgeon, therapist, pediatrician surgery GUt caths to

Intelectual delays, death bfore 4 common

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14
Q

Anencephaly

A

large defect of the calcarium, meninges and scalp not compatable with life, AFP in

cerebral and cere bellar hemispheres are absent, dies in a few days

look kinda like frogs

spina cord with a nub

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15
Q

Encephalocele

A

broad based pedunculated masses of cerebral tissue and dura protruding thru cranial defect covered by skin

Occipital region is commpn

nsal sinus

diagnosis 0 AFP and ultrasound

Meckel gruber- AR, occipital cleft lip , many organs are issues

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16
Q

disorders of migration and sulcation

A

Polymicrogyria, agyria (lissencephaly) and pachygyria

Distrubance of process of neuronal migration from germinal matrix to cortex, sulcation is induced by presence of normally migrated neuronal populatio

17
Q

poly microgyria

A

too many irregular small fused gyri,results from disordered organization of the neuron in thcortex ate the time of migration, neurite extension, synaptogenesis, and maturation,

Etiology- intrauterine ischemia, poly microglia is associated with in utero ifarcts, twinning, intrauterine CMV toxox zoster syphilis, genetic syndrome, may be focal or diffuse

18
Q

Agyria lissencephaly and pachgyria

A

agyria is an absence of gyri
Pachygryria- decreased numbers of broad coarse gyrin
brain is small, neurons only migrate partially in the 4th month

chr17 (miller dieker syndrom seizures, mental retardation)

failure to thrive, microcephaly- microophthal

females with DCX mitation

19
Q

schizencephalu

A

unilateral or bilateral focal lesion in cerebral hemispheres due to an abnormality of morphogeneiss, cleft may be fused

20
Q

disorders of cleavage of forebrain

A

arrhinecephaly- term applied to this categorty of malformation (absences of olfactory tract/bulbs), but usually much more missing than the olfactory brain, severity of craniofacial defect mirrors severity of underlying brain abnormality (the face predicts the brain cyclopia, hypotelorism)

21
Q

defects in forebrain cleavage pathogenesis

A

absent cleavage of forebrain during 4th and 6th week of gestation, usually sporadic, SHH 7q26 with trisomies, ethanol accutane

22
Q

holoprosencephaly

A

incomplete separation of hemispheres, alobar- small brain only one brain with no interhemispheric fissure

Semilobar- partial formation of fissur

Lobar- midline continuity at fronal pole

23
Q

holoprosencephaly symptoms and diagnosis

A

Clinically present with profound cognitive impairment, seizures, rigidity apnea and temperature imbalance, hydrocphalus can develop with aqueductal obstruction endocrine disorders can present with hypothalami or pituitary malformations
Facial abnormalities- cyclopia, cebacephaly, premaxillary agenesis

24
Q

agenesis of corpus callosum

A

doesnt do much, associateed with migration defects,

no cingulate gyrus

25
type 1 chiari
chronic tonsilar herniation, associated with hydrocephalus, sdden death, neuro CN palsies, ataxia, long tract signs, can be asymtpomatic 90% have syringomyelia (cysts in sp cd)
26
type 2 chiari
herniated cerebellar tissue with displacement of dorsal medulla causing a hump on spcd lumbar myelomeningoceles lower CN defects, arm weakness, spactisity, hydrocephalaus Vit A def, too large of a cerebellum
27
dandy walker malformation
agenesis of vermis (dilation of 4th ventricle, posterior fossa is large)
28
syringomyelia
syrinx, cysts in sp cd, loss of pain and Temp | chiari 1
29
perinatal hypoxia
cerebral palsy, non progressive neurology, strok in the development stroke and paralysis \\ multi stroke spongey brain gray matter
30
white matter necrosis (leukomalacia
less severe than cp, plaques in wm, common in premies with ischemia and hypoxia, CV or pulmonary disease watershed, vulnerable is the oligodenderocytes multicystic encephalopathy of strokes
31
subependymal germinal matrix hemorrhages
premies, imature neurons in the ventricles, big blood supply, bp burst grade 4 - goes into surface and into the parengchyma