Ihi Tb4 Neuro Malformations

Front 1

define deformation

Back 1

secondary damage to normally formed tissue

Front 2

define malformation

Back 2

defect due to abnormal morphology

Front 3

define dysplasia

Back 3

abnormal cellular organization leading to structural or functional aberrations (localized = hemangioma, generalized - abnormal collagen)

Front 4

define heterotopia

Back 4

portion of an organ displaced to an abnormal site within the same organ

Front 5

define hamartoma

Back 5

disorganized portion of an organ within its normal site i.e. abnormal cortical lamination

Front 6

what is the neuropathology associated with Down syndrome?

Back 6

cortical atrophy, hypomyelination, BG calcification in early adulthood, senile plaques and NF tangles by 30; considerable corical loss and atrophy by 50

Front 7

what are the common heart diseases associated with Down syndrome?

Back 7

1. complete AV canal defect and 2. VSD

Front 8

What is the common GI abnormality associated with Down syndrome?

Back 8

Hirschprung's disease

Front 9

Down baby is having recurrent vomiting, what is the cause?

Back 9

esophageal atresia or duodenal atresia

Front 10

Down baby is having recurrent chocking, poor feeding. What is the cause?

Back 10

tracheoseophageal fistula

Front 11

If you have a baby with Hirchsrung disease what should you check for?

Back 11

down syndrome - may be so mild you can't see it in face

Front 12

what is the cause of anencephaly?

Back 12

failure of closure of anterior neuropore

Front 13

what is the cause of chiari malformations?

Back 13

failure of closure of the posterior neuropore

Front 14

when does the insult that causes ancephaly occur?

Back 14

around week 4

Front 15

what are the 3 features of anencephaly?

Back 15

1. absent calvarium, 2. basent forebrain, 3. variable loss of BG and upper midbrain

Front 16

what are the signs of ancephaly prenatally?

Back 16

1. polyhydramnios 2. absent forebrain and calvarium on ultrasound, 3. increased AFP

Front 17

cerebellar ectopia and small posterior fossa

Back 17

chiari I malformation

Front 18

cerebellar ectopia and small posterior fossa + brainstem malformation with beaked midbrain + spinal mineingomyelocele

Back 18

chiari II malformation

Front 19

occipito-cervical encephalocele + small posterior fossa + inferior displacement of brainstem +/- cerebellar ectopia

Back 19

chiari III malformation

Front 20

severe cerebellar hypoplasia + meningomyelocele

Back 20

chiari IV malformation

Front 21

small posterior fossa + normally placed cerebellar tonsils

Back 21

chiari 0 malformation

Front 22

cerebellar ectopia and small posterior fossa + beaked midbrain WITHOUT spinal meningomyelocele

Back 22

Chiari 1.5 malformation

Front 23

what is the most common presenting symptoms of chiari I malformation?

Back 23

pain - usually occipito-nuchal, paroxysmal and associated with dizziness

Front 24

kid has a headache that kids worse when he coughs and is associated with dizziness. What is the diagnosis?

Back 24

chiari I malformation

Front 25

what is the most common presenting symptom of syrinx in chiari I malformation kids?

Back 25

scoliosis and cape-like sensory loss

Front 26

kid has a cape-like sensory loss on upper extremities, what is the diagnosis?

Back 26

chiari I malformation

Front 27

kid has progressive hydrocephalus signs, cerebellar signs, brainstem signs + leg paralysis and atrophy and sphincteric dysfunction. What is the diagnosis?

Back 27

chiari II malformation

Front 28

infant has eczema, MR, seizures, hypopigmentation, musty body odor. What is the diagnosis?

Back 28

PKU

Front 29

what is the heredity pattern of Tay Sachs?

Back 29

AR

Front 30

whatis deficient in Tay Sachs?

Back 30

HEXA is deficient, HEX B is normal

Front 31

neuroimaging: macrocephaly wihtout hydrocephalus

Back 31

Tay-Sachs

Front 32

9 month old has developmental delay, weakness, decreased visual attentiveness + cherry red spot. What is the diagnosis?

Back 32

Tay-Sachs

Front 33

what does the EEG show in Tay Sachs?

Back 33

paroxysmal spikes and slow waves

Front 34

define cerebral palsy

Back 34

chronic motor disability of cerebral origin that can evolve but is NOT progressive that usually appears by 1 yoa (deformity)

Front 35

what are the 4 subtypes of cerebral palsy?

Back 35

1. spastic, dystonic, 3. ataxic, 4. athetoid

Front 36

what is the most common congenital malformation of the brain?

Back 36

anencephaly

Front 37

a cleft of spinal cord resulted from failure of the neural folds to form the neural tube = opened book defect

Back 37

myeloschisis

Front 38

histology: adhesion of leptomeninges to brain parenchyma, persistent fetal vasculature and exuburent sinusoidal blood vessels, migration disorders

Back 38

encephalocele

Front 39

single ventricular cavity instead of 2 hemispheres

Back 39

holoprosencephaly

Front 40

what causes holoprosencephaly?

Back 40

a developmental failure of cleavage of the proencephalon w/wo a deficit in midline facial development

Front 41

what is holoprosencephaly associated with?

Back 41

materal diabetes and maternal alcohol consumption

Front 42

what is the genetic abnormality associated with holoprosencephaly?

Back 42

trisomy 13, followed by 18

Front 43

what is always missing in holoprosencephaly?

Back 43

olfactory bulb and tract

Front 44

what Is agenesis of the corpus callosum associated with?

Back 44

1. aicardi syndrome; midline mass (lipoma, meningioma, cysts, hamartoma), vascular abnormalities

Front 45

when must the critical event happen for agenesis of the corpus callosum?

Back 45

9-20 weeks

Front 46

what are probst bundles?

Back 46

abnormal prominent bundle of fibers in the median sagittal direction associated with agenesis of the corpus callosum

Front 47

what is the main manifestation of Dandy-Walker syndrome?

Back 47

hydrocephalus, no cerebellar signs, but MR is present

Front 48

what are the 3 most common features of Dandy-Walker syndrome?

Back 48

abnormal/agenesis of cerebellar vermis, cystic dilation of the 4th ventricle, enlargement of the posterior fossa

Front 49

histology: large neurons in the lamination underneath the molecular layer that have tirgroid nissle substance

Back 49

cortical dysplasia

Front 50

too many gyri that are too small and are abnormal

Back 50

polymicrogyria

Front 51

what happens to the molecular layer in polymicrogyria?

Back 51

it is fused

Front 52

how does Miller-Dieker present?

Back 52

spastic infants - infantile spasm, profound MR, caractersitic facial dysmorphism

Front 53

large ventricles and lissencephally that are more prominent in the posterior brain

Back 53

Miller-Dieker syndrome

Front 54

what is the genetics of Miller-Dieker syndrome?

Back 54

deletion or transolcation of 17p - critical gene = PAFAH1B1

Front 55

nodular heteropia at the ventricular surface that is positive for synpatophysin

Back 55

grey matter heteroptia

Front 56

what is ectomesodermal syndrome

Back 56

combo of CNS malformation, CNS tumor, skin lesions often associated with ocular, vascular and visceral abnormalities

Front 57

what is the clinical triad of tuberous sclerosis?

Back 57

seizures, MR and adenoma sebaceum

Front 58

pathology: cortical tuber, subependymal hamartoma, subependymal giant cell astrocytoma

Back 58

tuberous sclerosis

Front 59

what are the genetics of tuberous sclerosis?

Back 59

AD with high penetrance, TSC1 (hamartin) gene and TSC2 (tuberin) gene