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Eugenie Notes > Notes 4b > Flashcards

Notes 4b Flashcards

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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
Williams Syndrome: mutation and sx
Chromosome 7 deletion ID, **happy affect,** congenital heart defects, “elfin" facies
26
Cri-du-chat: mutation and sx
Chromosome 5 deletion **cat like cry,** ID, presence of epicanthal folds, hypertelorism
27
Dandy Walker malformation
cerebellar vermis hypoplasia, 4th ventricle cystic dilation, elevation of torcula and tentorium cerebella can cause hydrocephalus and macrocephaly
28
Canavan's Disease: inheritance/mutation, sx
AR deficiency in aspartoacylase, leading to accumulation of N-acetylaspartic acid common in **ashkenazi jews** Poor tracking, psychomotor arrest/regression, feeding difficulties, hypotonia
29
MRI findings in Canavans disease
diffuse symmetric T2 hyperintensities in the WM with **characteristic involvement of U-fibers**
30
Alexander disease: mutation/chromsome, sx
mutation in GFAP on chromosome 17 seizures, dev delay, spasiticity, bulbar findings as you get older, dysautonomia, ataxia
31
MRI findings in Alexander disease?
diffuse WM hyperintensity, predominantly in frontal lobe and anterior cerebral regions with **involvement of u-fibers** ## Footnote **Tadpole sign on sagittal MRI (dramatic thinning of upper C spine)**
32
Histology for Alexander disease
Rosenthal fibers (assoc with severe myelin loss)
33
Sturge Weber Syndrome
Skin: port wine angioma of the face Brain: seizures, contralateral hemiparesis, AVMs, venous thromboembolisms, leptomeningeal capillary-venous malformations
34
Cobb's syndrome?
variant of sturge weber in which cutaneous angiomas occur in dermatome responding to spinal dural angioma
35
Glycine encephalopathy (nonketotic hyperglycemia): inheritance and sx?
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
Dx of Glycine encephalopathy (nonketotic hyperglycemia)
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
MRI in glycine encephalopathy (nonketotic hyperglycemia)?
hypoplastic or absent corpus callosum, gyral malformation or cerebellar hypoplasia
38
EEG in glycine encephalopathy (nonketotic hyperglycemia)
burst suppression or hypsarrhythmia
39
NF2: mutation and inheritance?
AD mutation in Merlin gene (tumor suppressor gene on chromosome 22)
40
NF2: characteristic feature?
bilateral schwannomas on CN8
41
Epidermal nevus syndrome (ENS): characterized by?
epidermal nevi (raised patches of hyperpigmentation) + neurologic manifestation
42
Tangier Disease: inheritance and mut
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
Tangier Disease (familial neuropathy) exam findings?
accumulation of cholesterol esters in tonsils, peripheral nerves, cornea, bone marrow typical finding is enlarged orange tonsils, loss of pain/temp sensation
44
Menke's disease: exam finding
“kinky hair syndrome” presence of brittle and lightly pigmented hair (pili torti), hyperplastic skin and thin or absent eyebrows
45
MELAS (mitochondrial encephalopathy, lactic acidosis and strokes): features
normal at birth, around 2-10 yo p/w seizures, strokes, vomiting, weakness Stroke like episodes: transient weakness, altered consciousness
46
MELAS (mitochondrial encephalopathy, lactic acidosis and strokes): labs
LA in blood and CSF
47
MELAS (mitochondrial encephalopathy, lactic acidosis and strokes): muscle bx
ragged red fibers
48
PKAN (pentothenate kinase-associated neurodegeneration): inheritance and mutation
PKAN2 gene AR
49
PKAN (pentothenate kinase-associated neurodegeneration): MRI
eye of the tiger sign hyperintensity in BL medial globus pallidus surrounded by hypointensity
50
Neuro- Lyme disease: dx
B. burgdorferi in the CSF and PCR
51
Neuro Lyme disease: weird finding
bilateral bells in some cases
52
If lyme is causing neuro sx, tx?
ceftriaxone or penicillin G
53
Infectious cause of cavernous sinus thrombosis?
Mucormycosis
54
Neuro sx assoc with West Nile virus
encephalitis, cranial neuropathies, tremors, can also invade spine and cause areflexia and flaccid weakness
55
cryptococcal meningitis: dx?
elevated OP on LP and (+) india ink smear
56
cryptococcal meningitis tx?
aphoterecin B + flucytosine for 2-3 w
57
CNS toxoplasmosis: MRI findings
multiple ring enhancing lesions with surrounding edema
58
Tx for CNS toxo?
sulfadiazine + pyrimethamine
59
Primary CNS lymphoma in AIDS is assoc with? Tx for Primary CNS lymphoma?
EBV tx is steroids
60
Most common causes of bacterial meningitis in neonates?
E coli Listeria Group B strep
61
Pott's Disease?
TB that spreads to the spine (usually T spine)
62
2 variants of leprosy?
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
Treatment for leprosy?
rifampin, dapson, clofazimine
64
Neuro sx in Whipple disease (tropheryma whipplei)? Dx?
dementia, supranuclear ophthalmoplegia, ataxia, oculomasticatory myorythmia, meningitis Dx: positive PAS (periodic acid schiff)
65
CJD signs on MRI?
pulvinar sign (DWI hyperintensity in pulvinar nucleus of the thalamus) Hockey stick sign: anterior and putamen hyperintensity
66
SSPE: complication of?
measles
67
EEG findings in SSPE?
periodic slow wave complexes at regular interval
68
MRI findings in SSPE?
hyperintensity in the grey and subcortical white matter greater in the posterior regions
69
Micro finding in aspergillus?
septate hyphae that tranche at acute angles
70
MRI findings in brain abscesses for T1? FLAIR? DWI?
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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