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Eugenie Notes > Notes 4b > Flashcards

Notes 4b Flashcards

1
Q

Periventricular nodular heterotopia: inheritance and deficiency

A

XR

FLNA mutation

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2
Q

Periventricular nodular heterotopia: what is it and sx

A

disorder of neural migration (neurons failed to migrate and remained in periventricular area)

Characterized by nodules of grey matter lining the ventricles and extending into the lumen

presents with seizures

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3
Q

Disorders of cell proliferation (2)

A

megalencephaly, focal dysplasia

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4
Q

Disorders of cell migration (3)

A

lissencephaly

cobblestone complex malformations

all heterotopias

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5
Q

Disoders of cortical organization (4)

A

polymicrogyria

focal cortical dysplasia with normal cell types

microdysgenesis

schizencephaly

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6
Q

L hemispheric hemimegalencephaly: sx and tx

A

enlargement of only one hemisphere

presents with cranial asymmetry, epilepsy, developmental delay, contralateral hemiparesis

Tx: hemispherectomy

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7
Q

Lissencephaly

A

smooth brain, less sulci/gyri

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8
Q

Miller-Dieker syndrome: what is it, mutation, sx

A

Classic lissencephaly

malformation of cortical development from abnormal cell migration, LIS1 gene

microcephaly, typical facies including micrognathia, low set ears, thin upper lip, short nose, prominent forehead, bitemporal hollowing

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9
Q

Gene assoc with X linked lissencephaly

A

DCX (codes for protein doublecortin)

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10
Q

Neuronal migration disorders (4)

A

lissencephaly

polymicrogyria

schizencephaly

focal cortical dysplasia

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11
Q

hepomelanosis of Ito: sx

A

neurocutaneous disorder

hypo-pigmented patches at birth that follow Blaschko lines (skin lines), best detected under UV light.

p/w seizures, microcephaly, eye stuff (cataracts, retinal detachments),

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12
Q

subcortical band heterotopia: mutation, what is it and sx

A

mutation in DCX on chromosome X in females (same mutation can lead to lissencephaly in males).

malformation of cortical neuronal migration, causes the formation of double cortex

seizures and developmental delay

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13
Q

Neurofibromatosis Type 1: inheritance, mutation and chormosome, presentation

A

AD

NF1: neurofibromin gene (tumor suppressor gene) on chromosome 17

Skin: cafe au lait spots

Eye: Lisch nodules (usually benign)

Bone: sphenoid wing dysplasia

Can undergo malignant transformation: plexiform neurofibromas

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14
Q

Plexiform neurofibromas?

A

Seen in NF1 that undergoes malignant transformation. Consists of schwann cells.

Causes skin hyperpigmentation, hypertrophy and thickening

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15
Q

Homocystinuria: inheritance, mutation/chrom, pres, tx

A

AR

cystathionine-beta-synthase deficiency, CBS gene on chromosome 21

causes elevation in blood and urine homocystine, methionine

Eye: ectopia lentis

Body: marfanoid habitus

vascular: intimal thickening of blood vessel walls → inc risk of thromboembolisms

Tx: daily pyridoxine, folate, B12, low protein diet

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16
Q

Most common urea cycle disorder? sx

A

OTC

ornithine transcarbamylase

leads to hyperammonemia, encephalopathy, resp alk

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17
Q

Down Syndrome: finding in eye?

A

Brushfield spots (white depigmentation seen in iris)

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18
Q

Rett Syndrome: mutation/chrom, findings

A

MECP2 gene on X chromosome (encodes methyl CpG branding protein 2, involved in DNA methylation)

Normal development with subsequent regression

Arrest of head growth → seizures and spasticity

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19
Q

Tuberous sclerosis can be from which mutations on which chromosome? inheritance?

A

AD

mTOR pathway mutation

TSC1 (hamartin, chromosome 9)

TSC2 (tuberin, chromosome 16)

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20
Q

Findings in Tuberous Sclerosis?

A

Skin: ash leaf, angiofibromas, ungal fibromas, shagreen patch

Brain: tubers (non-premalignant), SEGA(subependymal giant cell astrocytoma), subependymal nodules.

Psych: assoc with autism, ADHD, learning disabilites

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21
Q

Treatment for cortical tubers assoc with TS?

A

Vigabatrin

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22
Q

Treatment for SEGA (assoc with TS)?

A

rapamycin (mTOR inhibitor)

surgical resection

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23
Q

Prader Willi Syndrome: mutation and sx

A

Paternal inherited chromosome 15 mutation

hypotonia, short stature, dysmorphic face, hypogonadism, hyperplasia and obesity

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24
Q

Angelman’s Syndrome: mutation and sx

A

maternally inherited chromosome 15 mutation

intellectual disability, microcephaly, intractable epilepsy, ataxia, inappropriate laughter

“happy puppet syndrome” wide based stance and flailing of the arms at the sides during ambulation

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25
Q

Williams Syndrome: mutation and sx

A

Chromosome 7 deletion

ID, happy affect, congenital heart defects, “elfin” facies

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26
Q

Cri-du-chat: mutation and sx

A

Chromosome 5 deletion

cat like cry, ID, presence of epicanthal folds, hypertelorism

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27
Q

Dandy Walker malformation

A

cerebellar vermis hypoplasia, 4th ventricle cystic dilation, elevation of torcula and tentorium cerebella

can cause hydrocephalus and macrocephaly

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28
Q

Canavan’s Disease: inheritance/mutation, sx

A

AR

deficiency in aspartoacylase, leading to accumulation of N-acetylaspartic acid

common in ashkenazi jews

Poor tracking, psychomotor arrest/regression, feeding difficulties, hypotonia

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29
Q

MRI findings in Canavans disease

A

diffuse symmetric T2 hyperintensities in the WM with characteristic involvement of U-fibers

30
Q

Alexander disease: mutation/chromsome, sx

A

mutation in GFAP on chromosome 17

seizures, dev delay, spasiticity, bulbar findings as you get older, dysautonomia, ataxia

31
Q

MRI findings in Alexander disease?

A

diffuse WM hyperintensity, predominantly in frontal lobe and anterior cerebral regions with involvement of u-fibers

Tadpole sign on sagittal MRI (dramatic thinning of upper C spine)

32
Q

Histology for Alexander disease

A

Rosenthal fibers (assoc with severe myelin loss)

33
Q

Sturge Weber Syndrome

A

Skin: port wine angioma of the face

Brain: seizures, contralateral hemiparesis, AVMs, venous thromboembolisms, leptomeningeal capillary-venous malformations

34
Q

Cobb’s syndrome?

A

variant of sturge weber in which cutaneous angiomas occur in dermatome responding to spinal dural angioma

35
Q

Glycine encephalopathy (nonketotic hyperglycemia): inheritance and sx?

A

AR
few hours after birth, poor feeding and hiccups → encephalopathy and seizures. If survives the acute phase, will have profound ID and intractable epilepsy

36
Q

Dx of Glycine encephalopathy (nonketotic hyperglycemia)

A

high CSF glycine

both serum and CSF levels are elevated. ratio of CSF to plasma is >0.6, where usually it is 0.4 or lower

37
Q

MRI in glycine encephalopathy (nonketotic hyperglycemia)?

A

hypoplastic or absent corpus callosum, gyral malformation or cerebellar hypoplasia

38
Q

EEG in glycine encephalopathy (nonketotic hyperglycemia)

A

burst suppression or hypsarrhythmia

39
Q

NF2: mutation and inheritance?

A

AD

mutation in Merlin gene (tumor suppressor gene on chromosome 22)

40
Q

NF2: characteristic feature?

A

bilateral schwannomas on CN8

41
Q

Epidermal nevus syndrome (ENS): characterized by?

A

epidermal nevi (raised patches of hyperpigmentation) + neurologic manifestation

42
Q

Tangier Disease: inheritance and mut

A

AR familial neuropathy

mutation in adenoids triphosphate cassette transporter (ABCA1 gene), results in a deficiency of HDL with very low cholesterol and high triglyceride concentration

43
Q

Tangier Disease (familial neuropathy) exam findings?

A

accumulation of cholesterol esters in tonsils, peripheral nerves, cornea, bone marrow

typical finding is enlarged orange tonsils, loss of pain/temp sensation

44
Q

Menke’s disease: exam finding

A

“kinky hair syndrome”

presence of brittle and lightly pigmented hair (pili torti), hyperplastic skin and thin or absent eyebrows

45
Q

MELAS (mitochondrial encephalopathy, lactic acidosis and strokes): features

A

normal at birth, around 2-10 yo p/w seizures, strokes, vomiting, weakness

Stroke like episodes: transient weakness, altered consciousness

46
Q

MELAS (mitochondrial encephalopathy, lactic acidosis and strokes): labs

A

LA in blood and CSF

47
Q

MELAS (mitochondrial encephalopathy, lactic acidosis and strokes): muscle bx

A

ragged red fibers

48
Q

PKAN (pentothenate kinase-associated neurodegeneration): inheritance and mutation

A

PKAN2 gene

AR

49
Q

PKAN (pentothenate kinase-associated neurodegeneration): MRI

A

eye of the tiger sign

hyperintensity in BL medial globus pallidus surrounded by hypointensity

50
Q

Neuro- Lyme disease: dx

A

B. burgdorferi in the CSF and PCR

51
Q

Neuro Lyme disease: weird finding

A

bilateral bells in some cases

52
Q

If lyme is causing neuro sx, tx?

A

ceftriaxone or penicillin G

53
Q

Infectious cause of cavernous sinus thrombosis?

A

Mucormycosis

54
Q

Neuro sx assoc with West Nile virus

A

encephalitis, cranial neuropathies, tremors, can also invade spine and cause areflexia and flaccid weakness

55
Q

cryptococcal meningitis: dx?

A

elevated OP on LP and (+) india ink smear

56
Q

cryptococcal meningitis tx?

A

aphoterecin B + flucytosine for 2-3 w

57
Q

CNS toxoplasmosis: MRI findings

A

multiple ring enhancing lesions with surrounding edema

58
Q

Tx for CNS toxo?

A

sulfadiazine + pyrimethamine

59
Q

Primary CNS lymphoma in AIDS is assoc with? Tx for Primary CNS lymphoma?

A

EBV

tx is steroids

60
Q

Most common causes of bacterial meningitis in neonates?

A

E coli

Listeria

Group B strep

61
Q

Pott’s Disease?

A

TB that spreads to the spine (usually T spine)

62
Q

2 variants of leprosy?

A

spreads through resp system but affects the peripheral nerves typically

Lepromatous variant: causes skin and systemic manifestations

tuberculoid variant: asymmetric neuropathies, more localized skin lesions (happens in patients with better immunity), can resemble mononeuritis multiplex

63
Q

Treatment for leprosy?

A

rifampin, dapson, clofazimine

64
Q

Neuro sx in Whipple disease (tropheryma whipplei)? Dx?

A

dementia, supranuclear ophthalmoplegia, ataxia, oculomasticatory myorythmia, meningitis

Dx: positive PAS (periodic acid schiff)

65
Q

CJD signs on MRI?

A

pulvinar sign (DWI hyperintensity in pulvinar nucleus of the thalamus)

Hockey stick sign: anterior and putamen hyperintensity

66
Q

SSPE: complication of?

A

measles

67
Q

EEG findings in SSPE?

A

periodic slow wave complexes at regular interval

68
Q

MRI findings in SSPE?

A

hyperintensity in the grey and subcortical white matter greater in the posterior regions

69
Q

Micro finding in aspergillus?

A

septate hyphae that tranche at acute angles

70
Q

MRI findings in brain abscesses for T1? FLAIR? DWI?

A

T1: hypointense center, capsule that enhances with contrast surrounded by hypointense edema

FLAIR: hyperintense edema

DWI: restricted diffusion in the center (characteristic and differentiates from mets or primary brain tumors)

Eugenie Notes (10 decks)

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