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Eugenie Notes > Notes 4A > Flashcards

Notes 4A Flashcards

1
Q

MDD diagnosis can be made after the occurrence of?

A

2 major depressive episodes that occurred at least 2 months apart

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2
Q

Serotinin receptors acted on for SSRI?

A

5-HT1A

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3
Q

Serotonin receptors that has vasoconstrictive role?

A

5-HT1B

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4
Q

Serotonin receptor that inhibits neuronal transmission/trigeminal neurogenic inflammatory peptide release

A

5-HT1D

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5
Q

Serotonin receptor that triptans work on?

A

5HT1D (inhibits neuronal transmission and trigeminal neurogenic inflammatory peptide release)

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6
Q

Metabolic abnormality that can be caused by SSRIs?

A

HypoNa

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7
Q

The main embryonal layer giving rise to the nervous system

A

ectoderm

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8
Q

From the ectoderm, what induces formation of the neural plate?

A

notochord

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9
Q

The notochord gives rise to?

A

The vertebral column

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10
Q

The neural plate forms the _____ at around 3-6 weeks gestation

A

neural tube

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11
Q

Any disturbance during 3-6 weeks gestation will lead to?

A

Neural tube defects (NTD)

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12
Q

Anencephaly

A

complete absence of both hemispheres of the brain, not compatible with life

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13
Q

Encephalocele

A

herniation of the neural tissues into a midline defect in the skull.

Appear as round, protuberant, fluctuant masses covered by an opaque membrane or normal skin

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14
Q

Most common location of encephalocele?

A

occipital area

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15
Q

Encephaloceles are assoc with what disorders?

A

Trisomy 18 and 13

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16
Q

Encephalocele vs Meningocele?

A

In meningocele, only the leptomeninges and CSF are herniated through the skull

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17
Q

Holoprosencephaly

A

failure of the prosencephalon to form the telencephalon and diencephalon results in failure of the formation of two distinct cerebral hemispheres

Seen in trisomy 13 and 18

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18
Q

After neurulation, the neural tube undergoes segmentation into 3 vesicles?

A

Prosencephalon
Mesencephalon
Rhombencephalon

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19
Q

Prosencephalon gives rise to?

A

telencephalon + diencephalon -> both cerebral hemispheres, thalamus and hypothalamus

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20
Q

Mesencephalon gives rise to?

A

midbrain

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21
Q

Rhombencephalon gives rise to?

A

pons, medulla and cerebellum

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22
Q

The neural crest cells (derived from the neural tube) gives rise to?

A

PNS
chromatin tissue of the adrenals and melanocytes

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23
Q

Corpus callosum develops by week?

A

17

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24
Q

abnormalities of the ______ lead to defects in the corpus callosum (agenesis or dysgenesis)

A

commissural plate

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25
Q

MRI sign for agenesis of the corpus callosum

A

Steer horn sign if coronal, or racing car sign if axial imaging

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26
Q

Cerebral hemispheres form from?

A

a single layer of epithelium surrounding the lateral ventricles (ventricular zone)

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27
Q

All 6 layers of the cortex are identifiable by week?

A

27

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28
Q

galactosemia: which deficiencies can cause it (3)? Most common?

A

1. Galactose - 1 - phosphate uridyltransferase (MC)

  1. galactokinase deficiency
  2. uridine diphosphate galactose 4 epimerase
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29
Q

Galactosemia: Sx, Dx and Tx

A

feeding issues, vomiting, diarrhea, hepatomegaly, cataracts (due to accumulation of galactitol)

Dx: urine shows reducing substances

Tx with galactose and lactose restriction

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30
Q

Pyruvate Dehydrogenase Deficiency: inheritance, sx

A

X linked

severe neonatal lactic acidoses with death, episodes of ataxia, nystagmus

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31
Q

Pyruvate Dehydrogenase Deficiency: Dx and Tx

A

elevated LA and pyruvate, low LA: pyruvate ratio

KGD (ketoglutarate decarboxylase) and thiamine

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32
Q

Phenylketonuria (PKU): deficient enzyme? sx and tx

A

phenylalanine hydroxylase deficiency (converts phenylalanine to tyrosine) leads to accumulation of phenylalanine which is eventually metabolized to phenyl-acetic acid which is responsible for the musty odor of sweat and urine.

developmental delay, microcephaly, seizures, hypotonia, musty odor of sweat and urine.

diet restriction of phenylalanine and low protein

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33
Q

Maple syrup urine disease: deficient enzyme? Sx? Tx?

A

branched chain keto acid dehydrogenase complex deficiency: leads to accumulation of branched chain amino acids (leucine, isoleucine and valine)

lethargy, poor feeding, hypotonia, 2-3 days of life a progressive encephalopathy develops with opisthotonus (spasm of the muscles causing backward arching of the head, neck, and spine).

low protein diet is tx

34
Q

Glucose Transporter Type 1 Deficiency (GLUT-1) sx? dx? tx?

A

glucose usually crosses the BBB through this transporter, so basically no glucose in the CNS, sx and dx makes sense

epileptic encephalopathy, developmental delay, microcephaly
Dx: low CSF glucose and normal serum

Tx: KGD (alpha-ketoglutarate dehydrogenase)

35
Q

Sacral agenesis (absence of the sacrum) is assoc with

A

maternal insulin dependent DM

36
Q

myelomeningocele?

A

protrusion of the spinal cord and meninges through a bony defect

37
Q

Associated findings in tuberous sclerosis (other than neurologic ones)?

A
  • cardiac: rhabomyomas, arrhythmias (can cause embolic strokes)
  • Renal: angiomyolipoma
  • Pulmonary: lymphangiomyomatosis
  • Ophtho: retinal hamartomas, macular lesions leading to vision loss, retinal detachment
38
Q

Spina bifida occulta

A

defect in bony components along the posterior vertebral column.

Can be asx or present with conus medullaris/flium terminale

patient presents with a tuft of hair that sometimes develops into motor delay but not always

39
Q

Lesch Nyhan Disease: inheritance and enzyme

A

X linked

deficiency of hypoxanthine guanine phosphoribosyltransferase (HGPRT)

leads to accumulation of purine and conversion to uric acid.

40
Q

Lesch Nyhan Disease: sx and tx?

A

hypotonia, motor delay, neck and limb rigidity with dystonia, choreoathetotic movements, seizures, aggressive behavior, self mutiliation and progressive dementia.

purine restricted diet, hydration, allopurinol

41
Q

Treatment for neuropsychiatric manifestation of Lesch Nyhan Disease?

A

Levodopa and tetrabenazine can have some benefit

42
Q

Risk factors for neural tube defects?

A

maternal folate deficiency, maternal diabetes, retinoic acid exposure, ASM exposure (especially VPA and CBZ)

43
Q

Dx of neural tube defects?

A

prenatal US, high maternal serum AFP (leaks from fetal CSF into amniotic fluid)

higher level correlates with NTD severity

44
Q

Niemann-Pick: inheritance and defect for each type?

A

AR

Type A/B: sphingomyelinase deficiency, leads to accumulation of sphingomyelin

Type C: defect in cholesterol circulation, so cholesterol builds up in perinuclear lysosomes.

45
Q

Niemann Pick Type A: involves what systems? sx? dx?

A

CNS and viscera

cherry red spot, massive hepatosplenomegaly

Bone marrow bx: vacuolated histiocytes with lipid accumulation called foam cells.

most do not survive past 3y

46
Q

Niemann Pick Type B: involves? sx? dx?

A

purely visceral (no CNS)

massive hepatosplenomegaly and interstitial lung disease

may survive into adulthood

Bone marrow bx: vacuolated histiocytes with lipid accumulation called foam cells.

47
Q

Niemann Pick Type C: dx and sx

A

vertical gaze apraxia

dx by Filipin test (demonstrates impaired ability of cultured fibroblasts to esterify cholesterol)

48
Q

Fabry disease: inheritance and deficiency?

A

X linked

alpha galactosidase, leads to accumulation of ceramide trihexoside

49
Q

Fabry Disease: sx and tx?

A

NEURO:small fiber neuropathy→ dysesethesias,
SKIN: angiokeratomas
also cardiac, renal, vascular involvement (stroke)
OPHTHO: corneal opacity

Tx with enzyme replacement therapy

50
Q

Krabbe Disease: Inheritance and deficiency?

A

AR
Mutation in galactocerebrosidase gene → accumulation of galactocerebrosides

51
Q

MRI for Krabbe Disease?

A

demyelination, WM disease sparing the U fibers

52
Q

Histo for Krabbe?

A

globoid cells (PAS+ multinucleate macrophages with cytoplasmic accumulation of galactocerebroside)

53
Q

Krabbe: sx?

A

3 forms

Infantile: opisthotonos and blindness

Juvenile: vision problems, muscle weakness, gait changes

Adult: spastic paraparesis, vision loss, neuropathy

54
Q

Metachromatic Leukodystrophy: inheritance and deficiency?

A

AR
arylsulfatase (lysosomal enzyme) → accumulation of cerebroside sulfate

55
Q

Metachromatic Leukodystrophy: sx?

A

Infantile: clumsiness, falls, slurred speech. May progress to loss of vision and hearing, neuropathy and deterioration of mental function

Juvenile: same but slower progression

Adult: behavioral changes, psychosis and dementia

56
Q

Metachromatic Leukodystrophy: MRI

A

T2 hyperintense changes in periventricular and subcortical WM, sparing the U fibers

57
Q

Gaucher Disease: inheritance and deficiency?

A 
AR
def of glucocerebrosidase → accumulation of glucocerebrosides
58
Q

Gaucher: histo?

A

“Gaucher Cells” With Linear Cytoplasmic Striations

These Gaucher cells demonstrate the characteristic fibrillary or striated cytoplasm reminiscent of wrinkled tissue paper

59
Q

Tay Sachs Disease (GM2): inheritance and deficiency?

A

AR
hexosaminidase A deficiency

60
Q

Tay Sachs Disease (GM2): presentations

A

Typically in Ashkenazi Jews

CNS is the only affected system (in contrast to Sandhoff’s disease which is cause by def in hexosaminidase A and B, presents with hepatosplenomegaly as well)

Increased startle response, motor regression, spasticity, seizures, blindness (optic atrophy → cherry red spot on the macula)

61
Q

GM1 gangliosidosis: inheritance and deficiency

A

AR

beta-galactosidase deficiency

62
Q

GM1 gangliosidosis: sx

A

weakness, spasticity, seizures, psychomotor arrest, cherry red spot on macula

63
Q

Summary Table of Lysosomal Storage Diseases

A
64
Q

Syringomyelia vs hydromyelia

A
  • synringomyelia: fluid-filled cavity within spinal cord that is separate form the central canal and lined by gliotic tissue.
  • Hydromyelia: enlargement in the central canal itself, and the cavity wall is, therefore lined by ependyma
65
Q

Chiari 1 vs Chiari 2

A
  • chiari I: displacement of cerebellum and cerebellar tonsils downward through the foramen magnum + syringmyelia
  • Chiari 2: Chiari 1 + myelomeningocele (downward displacement of cerebellum + brainstem displacement, hydrocephalus, and tectal plate formation).
66
Q

Chiari 3

A

cerebellar herniation into cervical or occipital encephalocele

67
Q

Jouberts Syndrome: what is it?

A

When there is cerebellar vermis hypoplasia with 4th ventricle enlargement, interpeduncular fossa and abnormal superior cerebellar peduncles

68
Q

Joubert’s Syndrome: inheritance and sx

A

AR

developmental delay, ataxia, oculomotor abnormalities, resp issues

69
Q

Joubert Syndrome: sign on MRI

A

Molar tooth sign

70
Q

Other than Joubert Syndrome, what else has the molar tooth sign on MRI?

A

COACH syndrome

Cerebellar vermis hypoplasia, oligophrenia (congenital dementia), congenital ataxia, coloboma, hepatic fibrosis.

71
Q

Foramen of Monro connects

A

lateral ventricles to third ventricle

72
Q

Cerebral aqueduct connects

A

3rd ventricle to 4th ventricle

73
Q

Infantile Syndromes of peroxisomal dysfunction (3)

A

Zellweger Syndrome

Neonatal adrenoleukodystrophy

Infantile Refsum Disease

74
Q

Zellweger Syndrome (VLCFA): mutation and sx

A

peroxisome disorder affecting the WM, PEX genes

Causes a cerebro-hepato-renal syndrome

High forehead, large fontanelle, flat supraorbital ridges, hypertelorism, epicanthal folds, broad nasal bridge, micrognathia, flat occiput.

Typical feature: chrondrodysplasia with bony stippling of the patella

75
Q

Septo optic dysplasia: what is it and mutation?

A

group of malformations that include hypoplasia/absence of septum pellucidum, optic nerve or optic chiasm, dysgenesis of the corpus callosum/anterior commisure, and fornix detachment from the corpus callosum.

Can have vision issues, ataxia, hydrocephalus

mutation in HESX1, homebox, SOX genes

76
Q

Leighs Syndrome: What is it

A

Mitochondrial disease that causes subacute encephalomyelopathy

affects brainstem, thalamus, BG, cerebellum

  • In infancy, they present with hypotonia, loss of head control, poor sucking, vomiting, irritability, seizures
  • If onset > 1 y—> present with gait disturbance, cerebellar ataxia, dysarthria, psychomotor retardation, external ophthalmoplegia, dystonia, resp failure
77
Q

Kearns-Sayre Syndrome: what is it

A

mitochrondrial disease that causes this triad

  1. progressive external ophthalmoplegia
  2. Onset <20y
  3. One of the following: short stature, pigmentary retinopathy, cerebellar ataxia, heart block, inc CSF protein >100
78
Q

Parry Romberg Syndrome

A

loss of facial tissue, cartilage, bone leading to hemifacial atrophy, ipsilateral loss of eyelashes, eyebrows and scalp hair

Neuro sx: headaches, horner syndrome, seizures and hemiparesis

79
Q

Von Hippel-Lindau: inheritance and deficiency

A

AD

mutation in VHL gene on chromosome 3 that encodes a tumor suppressor protein

80
Q

Von Hippel-Lindau: sx

A

multiple retinal, cerebellar, and spinal hemangioblastomas

(also at risk for renal cell carcinoma)

Eugenie Notes (10 decks)

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