neurology Flashcards
1
Q
neural tube defects - mechanism
A
Nuropores fail to fuse (4th week) –> persistent connection between amnionic cavity and spinal canal
2
Q
causes of neural tube defects
A
low folic acid intake before conception and during pregnancy
3
Q
neural tube defects - labs
A
- increased a-fetoprotein (AFP) in amniotic fluid and maternal serum (except spina bifida occulta)
- increased acetylcholinesterase (AChE) in amniotic fluid in amniotic fluid (helpful confirmatory test)
4
Q
Spina bifida occulta - mechanism
A
failure of spinal canal to close but no stractural herniatiion, and intact dura –> associated with tuft of hair or skin dimple at level of bony defect
5
Q
Spina bifida occulta - area
A
usually at lower vertebral levels
6
Q
Spina bifida occulta - lab
A
normal AFP
7
Q
Spina bifida - types and MC
A
- Spina bifida occulta (MC)
- Meningocele
- Meningomyelocele
8
Q
Meningocele - mechanism
A
meninges (BUT NOT NEURAL TISSUE) herniate through body defect
9
Q
Meningomyelocele - mechanism
A
meninges and NEURAL TISSUE (eg. cauda equina) herniate through bony defect
10
Q
Meningocele - clinical appearance
A
+/- skin defect (and cyst through it)
11
Q
Meningomyelocele - clinical appearance
A
skin usually thin or absent (and cyst through it)
12
Q
Anencephaly - pathophysiology
A
malformation of anterior neural tube –> no forebrain, open calvarium
13
Q
Anencephaly - clinical and lab findings
A
- open calvarium
- polyhydramnios
- increased AFP
- frog like appearance of the fetus
14
Q
causes of anencephaly
A
- maternal type 1 diabetes
2. low folic acid intake before conception and during pregnancy
15
Q
Forebrain anomalies - types
A
- anencephaly
2. holoprosencephaly
16
Q
holoprosencephaly - mechanism
A
failure of left and right hemispheres to separate during 5-6 weeks. Related to mutations in sonic hedgego signaling pathway
17
Q
holoprosencephaly - moderate form
A
cleft lip/palate
18
Q
holoprosencephaly - most severe form (and describe)
A
cyclopia –> only one eye, centrally placed at nose’s root are. There is a missing nose or a nose in the form of a proboscis (a tubular appendage) located above the eye.
19
Q
holoprosencephaly - seen in
A
- Patau syndrome
2. fetal alcohol syndrome
20
Q
Posterior fossa malformations - types
A
- Chiari II
2. Dandy-Walker
21
Q
Chiari II - pathophysiology
A
significant herniation of cerebellar tonsils and vermis through foramen magnum with aqueductal stenosis
–> hydrocephalus
22
Q
Chiari II may occur in association with
A
- lumbosacral menigomyelocele –> paralysis below the defect
- syringomyelia
23
Q
Dandy-Walker - pathophysiology
A
agenesis of cerebellar vermis with cystic enlargment of 4th ventricle (fills the enlarged posterior fossa)
24
Q
Dandy-Walker is associated with
A
- noncommunicating hydrocephalus
2. spina bifida
25
Chiari I malformation - mechanism
cerebellar tonsillar ectopia >3-5 mm
26
Chiari I malformation - clinical appearance
congenital, usually asymptomatic in childhood, manifests with feadaches and cerebellar sympotms (as the skull and brain are growing)
27
febrile seizures - diagnosis
- fever more than 38.9 with rapid rise
| - tonic-clonic seizure lasting less than 15 mins (atypical at lower Q and last longer) and do not recur in 24 hours
28
febrile seizures - when LP
if meningitis is suspected or in children younger than 12 months
29
febrile seizures - EEG
normal (unless atypical)
30
febrile seizures - treatment
confirm respiratory stability
acetaminophen
atypical should receive more in depth work (labs, MRI, ECG)
31
febrile seizures - complications
- very small rise of risk in epilepsy
| - atypical: more likely to recur, increased risk of epilepsy
32
neurocutaneous disorders - types
1. Sturge-Weber syndrome
2. Tuberous sclerosis
3. Neurofibromatosis type 1 (von Recklinhhausen disease)
4. von Hippel-Lindau disease
33
von Hippel-Lindau disease - manifestations
1. hemangioblastomas in retina, brain stem, cerebellum, spine
2. angiomatosis (cavernous hemangiomas in skin, mucosa, orgnas)
3. bilateral renal cell carcinoma
4. pheochromocytomas
34
Neurofibromatosis type 1 - manifestation
1. cafe-au-lait spots
2. Lisch nodules (pigmented iris hamartomas )
3. cutaneous neurofibromas
4. optic gliomas
5. pheochromocytomas
35
tuberous sclerosis - manifestations
1. Hamartomas (in CNS and skin) 2. Angiofibromas
3. Mitral regurgitation 4. ash leaf spots 5. cardiac rhabdomyomas 5. Metal retardation 6. renal angimyolipoma 7. seizures 8. Shangreen patches
9. high incidence of subependymal astrocytomas and ungual fibromas
36
Struge - weber syndrome - manifestation
1. nevus flammeus 2. ipsilateral leptomeningeal angioma 3. intellectual disability 4. episcleral hemangioma
5. early onset glaucoma 6. epilepsy/seizures
37
Todd paralysis
```
transient neurologic deficit (usually hemiparesis) that occurs after a seizure
self limited (resolve within hours)
```
38
acute causes of hemiplegia in children
1. seizures (postictal confusion or Todd paralysis)
2. Hemiplegic migraine
3. Ischemic stroke
4. Intracranial hemorrhage
39
Kippel-Trenaunay sundrome
capillarym venous and sometimes lymphatic malformations in combination wiht limb overgrowth--> port wine in the lower extremities
no neurological abnormalities
40
DDX of flaccid paralysis - presentation
1. infant botulism (spores) - descending flaccid
2. foodborne botulism (preformed toxins) - descending flaccid
3. Guillain Barre - ascending
41
DDX of flaccid paralysis - treatment
1. infant botulism - human IVIG
2. foodborne botulism - equine antitoxin
3. Guillain Barre - pooed human immune glob
42
botulism also affects eyes
ptosis, weak papillary relfex
| also autonomic dysfunction (drooling)
43
absence seizures are easily provoked by
hyperventilation
44
Lennox-Gastaut syndrome
presents by age 5 with intellectual disability and severe seizures of varying types
ECG: slow spike wave pattern
45
tests to monitor Guillen Barre
PFT (eg. spirometry) --> decline in FVC more than 20 ml --> resp failure
46
Guillen barre - indications for ntubation
1. decline of fvc more than 20 ml
2. resp distress (eg. tachypnea, accessory muscles)
3. dysautonomia
4. widened pulse pressure
47
Bacterial meningitis - complications (MC)
1. hearing loss (MC)
2. intellectual disability
3. Cerebral palsy
4. epilepsy
- -> audiologic screening + developmental follow up
48
causes of interventricular hemorrhages / presentation / screening
1. prematurity (less than 30 wks) 2. low birth weight (less than 1.5 kg)
- pallor, cyanosis, hypotension, seizures, bulging or tense fontanel, AASYMPTOMATIC (mandatinng tranfontanel U/S in Risk factors)
49
mild traumatic injury with repeated vomiting, headache and loss of consciousness - next step
CT without contrast or observation for 4-6 hours --> if normal CT or uneventful observation --> discharged with a reliable guardian
50
define serious traumatic brain injury
GCS less than 13, prolonged loss of consciousness, neurologic deficit, signs of basilar skull fracture
51
when we should perform CT without contrast after trauma
neurologic findings, skull fructures, seizures, persistent alterned mental status, prolonged loss of consciousness
52
when we should perform CT without contrast or observation for 4-6 hours after trauma
vomiting, headeache, questionable or bried loss of consciousness, severe mechanism of injury,
53
posterior oropharyngeal injuries - complications
can result in internal carotid artery dissection or thrombus formation --> hemoplgeia, facial drop, aphasia
(minor oropharyngeal trauma, eg. fall with object in the mount)
54
febrile seizures - next step after acetaminophen
reassurance (no labs, no admission)
55
Duchenne clinical manifestations
1. Weakness begins in pelvic gridle muscles and progress superiorly
2. Pseudohypertrophy of calf muscle (fibrofatty replacement of muscle
3. Gower maneuver
4. Dilated cardiomyopathy
5. Waddling gait
6. scoliosis
56
Duchenne pathophysiology
X-linked frameshift mutation--> truncated dystrophin protein -->accelerated muscle breakdown and inhibited muscle regeneration
57
Myotonic muscular dystrophi
AD: grip myotonia (delayed muscle relaxation), facial weakness, foot drop, dysphagia, cardiac conduction anomalies, cataracts, testicular atrophy/infertility, baldness
58
Duchene vs becker bs myotonic muscular dystrophy regarding inheritance / age of onset
Duchene (2-3) + Becker 5-15) are X
| Myotonic (12-30) is AD (with triplet)
59
Becker - comorbitities
cardioyopathy
60
MC site of ependymomas
4th ventricle in the posterior fossa
61
febrile seizures - criteria
1. age 3 months - 6 years
2. no previous AFEBRILE seizures
3. no meningitis or encephalitis
4. no acute metabolic disease
62
absence seizures - associated with
- anxiety
| - ADHD
63
predisposing conditions for brain abscesses
reccurent sinusitis, bacteremia, CYANOTIC HEART DISEASE, otitis, dental infection
64
red flag for autism spectrum disorder
impaired social interaction
65
Breath-holding spells?
6 months - 2 years. NORMAL. types:
- cyanotic: crying followed by breath-holding, cyanosis + Loss of consciousness
- pallid: minor trauma followed by breath-holding, pallor, diaphoresis and loss of con
NO POSTICTAL PERIOD
66
increasing head circumference and signs of increased ICP in children -->
CT of the brain
67
Frangile X syndrome
X - CGC
| MCC of inherited intellectual disability, speech and motor delays, prominent jaw, large ears, macroorchidism, AUTISM
68
Sudden infant eath syndrome?
unexpalined death of infants age less than 1
69
SIDS - Risk factors (which is the strongest
1. Maternal: smoking during of after pregnancy, younger than 20, inconsistent prenatal care
2. Infant: Prone/side sleep position, soft sleep surface, Bed-sharing, prematurity, siblings with SIDS
- PRONE POSITION IS THE STRONGEST
70
absence seizures vs inattentive staring spelss
inattentive staring spelss --> 1ry during boring activities, more than 1 min, response to vocal or tactile stimulation, lack of automatics
- absence --> during all activities, less than 20 sec, lack of response to vocal or tactile stimulation, presence of automatism
71
causes of intellectual disability in small children
1. Fetal alcohol
2. Down
3. Fragile X
72
Disorder of fructose metabolism vs galactose metabolism according symptoms
Disorder of fructose metabolism cause milder symptoms
73
Fructose intolerance - deficiency of
Hereditary deficiency of aldolase B
74
Symptoms of fructose intolerance present following
CONSUMPTION of fruit, juice, honey
75
Fructose intolerance symptoms
1. Hypoglycemia
2. Jaundice
3. Cirrhosis
4. Vomiting
76
Fructose intolerance/urine
1. Urine dipstick - (test for glucose only)
| 2. Reducing sugar can be detected in the urine (nonspecific for inborn errors of carbohydrate metabolsim)
77
Fructose intolerance treatment
Reduce fructose and sucrose (glucose and fructose) intake
78
Essential fructosuria - mechanism and manifestation
Defect in fructokinase
| fructose in blood and urine
79
Galactokinase deficiency
Hereditary deficiency of galacktokimase
80
Galactokinase deficiency sympoms
1. Galactose in urine and blood
2. Infantile cataracts
3. May initially present as failure to track objects or to develop a social smile
81
Classic galactosemia - mechanism
Absence of galactose-1-phosphate uridyltransferase
82
Classic galactosemia symptoms
1. Failure to thrive
2. Jaundice
3. Hepatomegaly
4. Infantile cataracts
5. Intellectual disability
6. E. Coli sepsis in neonates
7. Pi depletion (in most serious defect)
83
Fetal alcohol syndrome - manifestations
smooth phhiltrum, thin vermilion border, small palpebral fissures, microcephaly
84
best initial laboratory test for acoustic neuromas
audiometry
85
infant botulism - area
California
86
Focal seizures - definition
originates from 1 cerebaal hemisphere
| +/- loss of consciousness
87
juvenile myoclonic epilepsy - during
1st hour after awaking
88
another characteristic of NF1
macrocephaly
short stature
learning disabilities
89
brain tumor - seizures regarding tumor location
supratentorial
90
PKU - mechanism
- AR mutation in phenylalanine hydroxylase
| - failure to convert phenylalanine into tyrosine
91
PKU - manifestation
severe intellectual disability, seizures, musty body odor, hypopigmentation (skin, hair, eyes, brain nuclei)
92
PKU - diagnosis
1. newborn sceening (spectometry)
| 2. quantitative amino acid analysis (increased phenylalanine levels) (later in life)
93
PKU - treatment
dietary restriction of phenylalanine (avoid high protein foods)
94
infant hydrocephalus - symptoms / management?
poor feeding, irritability, vomiting, decreased activity
| --> CT
95
hydrocephalus - physical exam findings
1. tense + bulging fontanelle
2. prominent scal vein
3. widely spaced creanial sutures
4. rapidly increasing head circumference
96
how to prevent SIDS
1. smoke avoidance
2. pacifier use
3. sleeping in the supine position with firm bedding
4. room-sharing without bed-sharing
97
homocyst vs marfan regarding intellectual disability
normal in marfan
| disability i homocysteinuria
98
cerebral palsy - leading RF
premature
99
cerebral palsy - comorbidities
1. intellectual disability
2. epilepsy
3. strabismus
4. scoliosis
100
Lesch-Nyhan syndrome problem
Defective purine salvage due to HGRPT) deficiency or absent which convert Hypoxanthine to IMP and guanine to GMP
101
Lesch-nyhan syndrome results in:
| Inheritable?
Excess uric acid production and de novo purine synthesis
| X linked recessive
102
Lech-nyhan syndrome clinical manifestations:
```
Mnemonic HGPRT
Hyperuricemia
Gout
Pissed off (aggression, self-mutilation)
Retardation
DysTonia
+ PYRAMYDAL SYMPTOMS
```
103
Trinucleotide repeat expansion diseases
1. Fragile x syndrome - CGG
2. Friedreich ataxia - GAA
3. Huntington - CAG
4. Myotonic Dystrophy - CTG
104
how to prevent intraventricular hemor
prevention of preterm labor
| antenatal administration of maternal corticosteroids
105
marfan vs homocyst regarding mode of inheritance
marfan: AD
homocyst: AR
106
homocyst - treatment
vit B6, folate, vit B12
107
infant vs adult boutilism in presentation
adults phas prodrome symptoms of nausea, vomiting, abd pain, diarrhea
108
triggers of generalized seizures
1. sleep deprivation
2. hypoglycemia
3. fever
109
seizures - automoatism
repetitive semi-puroposeful movements (eg. chewing, sucking, swallowing) involve both hemispheres and are seen in focal seizures with impairment of consciousness
110
another difference between cephalohematoma and caput succedaneum
caput: present immediately in delivery
cephal: after several hours
111
pediatric migraine - treatment
NSAID or acetaminophen --> if no improve --> triptan
112
Fridreich ataxia - manifestation
1. degeneration of multiple spinal cord track
2. staggering gait (frequent falls)
3. nystagmus)
4. dysarthria
5. hammer toes
6. DM
7. hypertrophic cardiom
8. kyphoscoliosis
113
characteristics of NF2
bilateral acoustic neuromas and cataracts
114
cutaneous symptoms of NF1 are also in NF2
no
115
guillain barre - sensoty
sometimes
116
Lysosomal storage diseases - types and diseases and enzymes
A. spingolipidoses:
1. Fabry - a-galactosidase A deficiency
2. Gaucher - Glucocerebrosidase (β-glucosidase)
3. Niemann-Pick - Sphingomyelinase
4. Tay-Sachs - Hexosaminidase A
5. Krabbe - Galactocerebrosidase
6. Metachromatic leukodystrophy - Arylsulfatase A
B. Mucopolysacccharidosrs:
1. Hurler syndrome - a-L-iduronidase
2. Hunter syndrome - Iduronate sulfatase deficiency
117
Hurler syndrome symptoms
1. Developmental delay
2. Gargoylism (abnormal facial features)
3. Airway obstruction
4. Corneal clouding
5. Hepatosplenomegaly
118
Hunter syndrome - symptoms
Mild Hurler + aggressive behavior, no corneal clouding
119
Sphingolipidoses mode of inheritance
| MC?
AR except FABRY disease (XR)
| MC: Gaucher disease
120
Fabry disease - presentation
early: Triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis
late: progressive renal failure, cardiovascular disease
121
Gaucher findings
1. Hepatosplenomegaly
2. Pancytopenia
3. Aseptic necrosis of femur
4. Gaucher cell
5. Bone crisis
7. osteoporosis
122
Niemann-pick disease
1. Progressive neurodegeneration
2. Cheery red spot on macule
3. Foam cells (lipid-laden macrophages)
4. Hepatosplenomegaly
123
Tay-Sachs disease findings
1. Progressive degeneration
2. Developmental delay
3. Cherry red spot on macule
4. Lysosomes with onion skin
NO HEPATOSPLENOMEGALY (vs Niemann-Pick)
124
Krabbe disease findings
1. Peripheral neuropathy
2. Developmental delay
3. Optic atrophy
4. Globoid cells
125
Metachromatic leukodystrophy findings
Central and peripheral demyelination with ataxia and dementia
126
niemann pick vs Tay-sach - 2 differences in clinical presentation
Nieman: hepatosplenomegaly + AREFLEXIA
Tay: no hypetasplenomegaly + HYPERREFLEXIA
