Neurology Flashcards
1
Q
An elevated CK strongly suggests…
A
Duchenne muscular dystrophy
2
Q
- Earliest presentation of this disease
- Infant in frog leg posture
- Severe hypotonia on traction, ventral suspension
- Spares extraocular muscles
- Tongue fasciculations, atrophy with progression
- AR, SMN1 (survival motor neuron 1) gene
A
Denervation of anterior horn cells
SMA Type 1 (Werdnig-Hoffmann)
SMA Type 2 - later onset, slower progression
SMA Type 3 - Kugelberg-Welander
Share similarities with Lou Gehrig’s disease
3
Q
Most common cause of discitis
A
S. aureus
4
Q
- Childhood onset weakness
- Skinny legs
- Pes cavus
- Peroneal wasting
- Onion-bulbing on histology-may feel thickened nerves on exam
A
Charcot-Marie Tooth
- AD
5
Q
- Infancy onset weakness
- Delayed milestones
- Demyelinating disease
A
Dejerine-Sottas
- AD/AR
6
Q
- Weakness
- Retinitis pigmentosa
- Hearing loss
- Icthyosis
- phytanic acid storage problem
A
Refsum disease - peroxisomal
- AR
7
Q
“Areflexia”
A
Peripheral nerve disease
8
Q
Findings in Bell Palsy
A
Upper and lower portions involved
9
Q
- Multiple cranial neuropathies
- Tick bite
- Migrating rash
A
Lyme Disease
10
Q
- Dysphagia
- Dysphonia
- Failure of ocular accommodation
- Loss of reflexes
A
Diphtheria
11
Q
- Major cause of peripheral neuropathy in the third world
A
Leprosy
12
Q
- Symmetric, ascending polyneuropathy
- Calf pain earliest complaint in kids
- Albuminocytologic dissociation
- Areflexic patient
A
Guillain-Barre Syndrome
Can have arrhythmias, diaphragmatic issues, need monitored bed
Rx: Plasmapheresis or IVIG
13
Q
C5, 6
Arm adducted, internally rotated, rorearm pronated
A
Erb’s Palsy
14
Q
C7, 8, T1
Hand paralysis
A
Klumpke’s Palsy
15
Q
Wrist drop
A
Radial n injury
16
Q
Claw hand
A
Ulnar n injury
17
Q
Foot drop
A
Peroneal n injury
18
Q
Knee flexion paralysis
Tibial/Peroneal paralysis
Oftentimes associated with IM injection
A
Sciatic n injury
19
Q
Asymmetric neuropathy with WRIST DROP ANEMIA GI discomfort <4yrs Encephalopathy Hx of pica
A
Lead Neuropathy
Pb>60mcg/mL
20
Q
Distal paresthesias Tremor Ataxia Visual field constriction Weight loss Personality change Fatigue Tremor
A
Mercury Neuropathy
21
Q
“Fatigability, diurnal fluctuation of sx”
A
NMJ disorders
22
Q
Infant with feeble cry, faltering suck
What does mother have
A
Myasthenia gravis
Resolves in 3-5 weeks
23
Q
- Gradual onset of hypotonia, ptosis, poor suck and swallow, sluggish pupils, external ophthalmoplegia, feeble cry
- CONSTIPATION
A
Infant botulism - Clostridium botulinum ingested by the infant
Dx: Toxin from stool specimen, EMG
Rx: supportive, Blg available now
24
Q
- Normal as newborn, later Gowers sign
- Pseudohypertrophic calf
- Lumbar lordosis
- Toe walking, waddling gait
- Associated with dilated cardiomyopathy
- Very high CK
A
Becker and Duchenne Muscular Dystrophies
- XL (Xp21)
- Gene product = dystrophin
Duchenne: severe morbidity by second decade
Becker: later onset, milder course
25
- Focal dystrophies
- Mild CK increase
- Onset in 2nd decade, slowly progressive
- Biopsy shows dystrophic changes
- Difficulty using straws, blowing up balloons
- Normal life span
Fascioscapulohumeral Dystrophy - AD
Limb-Girdle Dystrophy - AR
- Some forms associated with cardiomyopathy
26
```
Floppy infant with hollow temporal fossae
Tented mouth
Cataracts
ID
EMG shows myotonia
CK not remarkably elevated
```
Congenital Myotonic Dystrophy
- AD
- Chr 19p CTG repeat expansion
- Genetic anticipation
27
- Arthrogryposis
- CNS involvement
- Seizures
- MR
- Biopsy shows dystrophic changes
- Dilated cardiomyopathy known association
Congenital Muscular Dystrophy
| - Merosin (laminin-alpha2) deficiency)
28
- Floppy infants
- Slowly progressive conditions
- Biopsy shows structural changes, not dystrophic changes
- Nemaline myopathy
- Central Core myopathy
- Myotubular myopathy
- Congenital Fiber Type Disproportion
29
Ascending weakness, areflexic
GBS
30
Foot drop, hypertrophic nerves
CMT
31
Sever muscle & brain involvement
Congenital Muscular Dystrophy
32
- Proximal weakness, legs > arms
- Muscle aches, pain in about a third
- Facial, EOM usually spared
- Neck flexors, shoulder and pelvic girdle muscles commonly affected
- Classic rash, skin ulcers, calcinosis
Polymyositis/Dermatomyositis
Rx: Prednisone, IVIV, cyclosporin
33
Early onset
Hypertrophic cardiomyopathy
Glycogen storage
Pompe
34
2nd decade onset
Exercise intolerance
Cramps
Myoglobinuria
McArdle
35
```
Ragged red fibers in muscle biopsy
Lipid myopathies (CPT deficiency & variants)
```
Mitochondrial disease
36
```
Early childhood onset
Precipitated by rest after exertion
Attacks last 15min to an hour
Dominantly inherited
May respond to acetazolamide
```
Hyperkalemic Periodic Paralyses (Na Channel mutation)
37
```
Later childhood onset
Provoked by carbohydrate load
Attacks last >24 hours
Dominantly inherited
May respond to acetazolamide
```
Hypokalemic Periodic Paralysis (L-type Ca++ channel mutation)
38
Head titubation
| Truncal ataxia/broad-based gait
Vermian lesions
39
```
Dysmetria
Hypotonia of limbs ipsilateral to teh lesion
Gait causes pt to veer ipsilaterally
Asynergia
Disdiadochokinesia
Intention tremor
```
Reactions to hemispheric lesions
40
```
Intermittent ataxia
Defective tryptophan absorption
Aminoaciduria
Pelagra like skin rash
Skin rash responsive to niacin
```
Hartnup's Disease
41
Intermittent ataxia
Lactic acidosis
Central hypoventilation
MELAS
42
- Congenital absence or hypoplasia of vermis
- Hypotonia
- Ataxia
- Hyperpnea and sleep apnea
- +/- cleft lip/palate
- Seizures
- Mild to moderate MR
- Molar tooth sign
Joubert Syndrome
43
Best brain tumor to have
Cerebellar Astrocytoma - only resection required
| - well-capsulated
44
- Initial signs CN findings
| - No HA, vomiting early
Pontine Glioma
- No surgery
- No chemo
- Only radiation
- Poor prognosis
45
Brain tumor associated with abducens palsy
Pontine Glioma
46
Surgery is curative of this brain tumor
Cerebellar astrocytoma
47
- Onset 1-3 years
- Telangiectasias in conjunctiva, skin
- Dysarthria, oculomotor apraxia, ataxia
- Lymphoid hypoplasia (no tonsils)
- Elevated serum alpha-fetoprotein
- IgA deficiency - sinopulmonary infections
Ataxia - Telangiectasia
- Defective DNA repair (ATM gene)
- AR (11q23)
48
- Multisystem disorder, 1st decade onset
- Affects peripheral nerve, spinal cord
- Optic atrophy
- Cataracts
- Degeneration cochlear nucleus
- Cardiomyopathy
- Diabetes in ~40%
- Scoliosis, pes cavus
Friedrich Ataxia
| - AR - triplet repeat expansion
49
- Acanthocytosis
- Hypocholesterolemia
- Degeneration of posterior columns and the spinocerebellar tracts
- Peripheral neuritis
- Retinitis pigmentosa
- Mental retardation
- Deficient fat absorption due to absence of betalipoproteins
Abetalipoproteinemia (Bassen-Kornzweig Syndrome)
- Early Rx with vitamin E may reverse course
50
Recurrence of anencephaly?
3-5%
| Common, <1 in 1000 in US
51
What screening is available to anencephaly?
Serum/amniotic fluid AFP
52
Meningocele
Just meninges
53
Meningoencephalocele
Meninges and brain tissue
54
```
Maldevelopment of cranial nerve nuclei
Facial n affected most commonly
Ptosis
Ophthalmoplegia
Difficulty with chewing/swallowing
Club foot, congenital absence of pectoralis
```
Moebius Syndrome
55
Most common form of craniosynostosis
Saggital
56
Neonatal high output cardiac failure
| Cephalic bruit
Vein of Galen - AVM
57
Associations with berry aneurysms
Coarctation of the Aorta
| Polycystic Renal Disease
58
Inheritance of Tuberous Sclerosis
AD - lots of spontaneous mutations
TSC 1 hamartin
TSC 2 tuberin
59
Cortical tubers (hamartomas)
Subependymal glial nodules
Giant cell astrocytomas
Tuberous Sclerosis
60
Hypopigmented macules
Ash leaf spots
Shagreen patches
Adenoma sebaceum
Dermatologic lesions in TS
Adenoma sebaceus = angiofibroma
61
```
Sporadic occurrence
Vascular port-wine nevus (V1 or V2)
Contralateral hemiparesis and seizures
Glaucoma
ID
Railroad track calcifications
```
Sturge-Weber Syndrome (15-20% of port wine stain)
62
```
Cerebellar hemangioblastoma
Spinal cord angioma
Cysts in pancreas, kidney, liver
Renal clear cell carcinoma (60%)
Pheochromocytoma (10-20%)
```
Von Hippel-Lindau Disease
63
Inheritance of Neurofibromatosis
AD - 50% new mutations
64
```
Cafe-au-lait spots
Axillary freckling
Lisch nodules
SQ neurofibromas
Intraspinal tumors
Tumors of peripheral nerves
OPTIC GLIOMAS
```
Neurofibromas
65
Most common malignancy in NF
Optic gliomas
66
Bilateral acoustic neuromas
NF type II
67
This type of neurofibromatosis has rare skin findings
NF type II
68
"Simple" seizure
Pt aware during seizure
69
"Complex" seizure
Pt unaware of environment
70
Complex febrile seizure
last >15min, focal, or multiple seizures during a single febrile illness
71
Recurrence rate of febrile seizures
30%
72
Hypsarrhythmia on EEG
Infantile Spasm
73
Treatments for Infantile Spasms
ACTH, Vigabatrin
74
- Multiple seizure types
- Usually intractable to treatment
- Progressive mental retardation common
- Cryptogenic vs. symptomatic
- Some evolve from infantile spasms
Lennox-Gastaut Syndrome
75
3 Hz spike and waves
Absence seizures
76
Treatments for Absence Seizures
Ethosuximide, VPA, LTG, ZNA
77
Felbamate
Aplastic Anemia
78
Topiramate
Dopamax - clouds cognitive function
| - Renal stones and acidosis
79
Lamotrigine
SJS, TEN
80
Oxcarbazepine
Hyponatremia
