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[Pediatric Board Review] > Neurology > Flashcards

Neurology Flashcards

1
Q

An elevated CK strongly suggests…

A

Duchenne muscular dystrophy

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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

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3
Q

Most common cause of discitis

A

S. aureus

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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

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5
Q
  • Infancy onset weakness
  • Delayed milestones
  • Demyelinating disease
A

Dejerine-Sottas

- AD/AR

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6
Q
  • Weakness
  • Retinitis pigmentosa
  • Hearing loss
  • Icthyosis
  • phytanic acid storage problem
A

Refsum disease - peroxisomal

- AR

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7
Q

“Areflexia”

A

Peripheral nerve disease

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8
Q

Findings in Bell Palsy

A

Upper and lower portions involved

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9
Q
  • Multiple cranial neuropathies
  • Tick bite
  • Migrating rash
A

Lyme Disease

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10
Q
  • Dysphagia
  • Dysphonia
  • Failure of ocular accommodation
  • Loss of reflexes
A

Diphtheria

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11
Q
  • Major cause of peripheral neuropathy in the third world
A

Leprosy

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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

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13
Q

C5, 6

Arm adducted, internally rotated, rorearm pronated

A

Erb’s Palsy

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14
Q

C7, 8, T1

Hand paralysis

A

Klumpke’s Palsy

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15
Q

Wrist drop

A

Radial n injury

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16
Q

Claw hand

A

Ulnar n injury

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17
Q

Foot drop

A

Peroneal n injury

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18
Q

Knee flexion paralysis
Tibial/Peroneal paralysis
Oftentimes associated with IM injection

A

Sciatic n injury

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19
Q 
Asymmetric neuropathy with WRIST DROP
ANEMIA
GI discomfort
<4yrs
Encephalopathy
Hx of pica
A

Lead Neuropathy

Pb>60mcg/mL

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20
Q 
Distal paresthesias
Tremor
Ataxia
Visual field constriction
Weight loss
Personality change
Fatigue
Tremor
A

Mercury Neuropathy

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21
Q

“Fatigability, diurnal fluctuation of sx”

A

NMJ disorders

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22
Q

Infant with feeble cry, faltering suck

What does mother have

A

Myasthenia gravis

Resolves in 3-5 weeks

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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

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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

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25
Q
  • Focal dystrophies
  • Mild CK increase
  • Onset in 2nd decade, slowly progressive
  • Biopsy shows dystrophic changes
  • Difficulty using straws, blowing up balloons
  • Normal life span
A

Fascioscapulohumeral Dystrophy - AD
Limb-Girdle Dystrophy - AR
- Some forms associated with cardiomyopathy

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26
Q 
Floppy infant with hollow temporal fossae
Tented mouth
Cataracts
ID
EMG shows myotonia
CK not remarkably elevated
A

Congenital Myotonic Dystrophy

  • AD
  • Chr 19p CTG repeat expansion
  • Genetic anticipation
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27
Q
  • Arthrogryposis
  • CNS involvement
  • Seizures
  • MR
  • Biopsy shows dystrophic changes
  • Dilated cardiomyopathy known association
A

Congenital Muscular Dystrophy

- Merosin (laminin-alpha2) deficiency)

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28
Q
  • Floppy infants
  • Slowly progressive conditions
  • Biopsy shows structural changes, not dystrophic changes
A
  • Nemaline myopathy
  • Central Core myopathy
  • Myotubular myopathy
  • Congenital Fiber Type Disproportion
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29
Q

Ascending weakness, areflexic

A

GBS

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30
Q

Foot drop, hypertrophic nerves

A

CMT

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31
Q

Sever muscle & brain involvement

A

Congenital Muscular Dystrophy

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32
Q
  • 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
A

Polymyositis/Dermatomyositis

Rx: Prednisone, IVIV, cyclosporin

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33
Q

Early onset
Hypertrophic cardiomyopathy
Glycogen storage

A

Pompe

34
Q

2nd decade onset
Exercise intolerance
Cramps
Myoglobinuria

A

McArdle

35
Q 
Ragged red fibers in muscle biopsy
Lipid myopathies (CPT deficiency & variants)
A

Mitochondrial disease

36
Q 
Early childhood onset
Precipitated by rest after exertion
Attacks last 15min to an hour
Dominantly inherited
May respond to acetazolamide
A

Hyperkalemic Periodic Paralyses (Na Channel mutation)

37
Q 
Later childhood onset
Provoked by carbohydrate load
Attacks last >24 hours
Dominantly inherited
May respond to acetazolamide
A

Hypokalemic Periodic Paralysis (L-type Ca++ channel mutation)

38
Q

Head titubation

Truncal ataxia/broad-based gait

A

Vermian lesions

39
Q 
Dysmetria
Hypotonia of limbs ipsilateral to teh lesion
Gait causes pt to veer ipsilaterally
Asynergia
Disdiadochokinesia
Intention tremor
A

Reactions to hemispheric lesions

40
Q 
Intermittent ataxia
Defective tryptophan absorption
Aminoaciduria
Pelagra like skin rash
Skin rash responsive to niacin
A

Hartnup’s Disease

41
Q

Intermittent ataxia
Lactic acidosis
Central hypoventilation

A

MELAS

42
Q
  • Congenital absence or hypoplasia of vermis
  • Hypotonia
  • Ataxia
  • Hyperpnea and sleep apnea
  • +/- cleft lip/palate
  • Seizures
  • Mild to moderate MR
  • Molar tooth sign
A

Joubert Syndrome

43
Q

Best brain tumor to have

A

Cerebellar Astrocytoma - only resection required

- well-capsulated

44
Q
  • Initial signs CN findings

- No HA, vomiting early

A

Pontine Glioma

  • No surgery
  • No chemo
  • Only radiation
  • Poor prognosis
45
Q

Brain tumor associated with abducens palsy

A

Pontine Glioma

46
Q

Surgery is curative of this brain tumor

A

Cerebellar astrocytoma

47
Q
  • Onset 1-3 years
  • Telangiectasias in conjunctiva, skin
  • Dysarthria, oculomotor apraxia, ataxia
  • Lymphoid hypoplasia (no tonsils)
  • Elevated serum alpha-fetoprotein
  • IgA deficiency - sinopulmonary infections
A

Ataxia - Telangiectasia

  • Defective DNA repair (ATM gene)
  • AR (11q23)
48
Q
  • Multisystem disorder, 1st decade onset
  • Affects peripheral nerve, spinal cord
  • Optic atrophy
  • Cataracts
  • Degeneration cochlear nucleus
  • Cardiomyopathy
  • Diabetes in ~40%
  • Scoliosis, pes cavus
A

Friedrich Ataxia

- AR - triplet repeat expansion

49
Q
  • Acanthocytosis
  • Hypocholesterolemia
  • Degeneration of posterior columns and the spinocerebellar tracts
  • Peripheral neuritis
  • Retinitis pigmentosa
  • Mental retardation
  • Deficient fat absorption due to absence of betalipoproteins
A

Abetalipoproteinemia (Bassen-Kornzweig Syndrome)

  • Early Rx with vitamin E may reverse course
50
Q

Recurrence of anencephaly?

A

3-5%

Common, <1 in 1000 in US

51
Q

What screening is available to anencephaly?

A

Serum/amniotic fluid AFP

52
Q

Meningocele

A

Just meninges

53
Q

Meningoencephalocele

A

Meninges and brain tissue

54
Q 
Maldevelopment of cranial nerve nuclei
Facial n affected most commonly 
Ptosis
Ophthalmoplegia
Difficulty with chewing/swallowing
Club foot, congenital absence of pectoralis
A

Moebius Syndrome

55
Q

Most common form of craniosynostosis

A

Saggital

56
Q

Neonatal high output cardiac failure

Cephalic bruit

A

Vein of Galen - AVM

57
Q

Associations with berry aneurysms

A

Coarctation of the Aorta

Polycystic Renal Disease

58
Q

Inheritance of Tuberous Sclerosis

A

AD - lots of spontaneous mutations
TSC 1 hamartin
TSC 2 tuberin

59
Q

Cortical tubers (hamartomas)
Subependymal glial nodules
Giant cell astrocytomas

A

Tuberous Sclerosis

60
Q

Hypopigmented macules
Ash leaf spots
Shagreen patches
Adenoma sebaceum

A

Dermatologic lesions in TS

Adenoma sebaceus = angiofibroma

61
Q 
Sporadic occurrence
Vascular port-wine nevus (V1 or V2)
Contralateral hemiparesis and seizures
Glaucoma
ID
Railroad track calcifications
A

Sturge-Weber Syndrome (15-20% of port wine stain)

62
Q 
Cerebellar hemangioblastoma
Spinal cord angioma
Cysts in pancreas, kidney, liver
Renal clear cell carcinoma (60%)
Pheochromocytoma (10-20%)
A

Von Hippel-Lindau Disease

63
Q

Inheritance of Neurofibromatosis

A

AD - 50% new mutations

64
Q 
Cafe-au-lait spots
Axillary freckling
Lisch nodules
SQ neurofibromas
Intraspinal tumors
Tumors of peripheral nerves
OPTIC GLIOMAS
A

Neurofibromas

65
Q

Most common malignancy in NF

A

Optic gliomas

66
Q

Bilateral acoustic neuromas

A

NF type II

67
Q

This type of neurofibromatosis has rare skin findings

A

NF type II

68
Q

“Simple” seizure

A

Pt aware during seizure

69
Q

“Complex” seizure

A

Pt unaware of environment

70
Q

Complex febrile seizure

A

last >15min, focal, or multiple seizures during a single febrile illness

71
Q

Recurrence rate of febrile seizures

A

30%

72
Q

Hypsarrhythmia on EEG

A

Infantile Spasm

73
Q

Treatments for Infantile Spasms

A

ACTH, Vigabatrin

74
Q
  • Multiple seizure types
  • Usually intractable to treatment
  • Progressive mental retardation common
  • Cryptogenic vs. symptomatic
  • Some evolve from infantile spasms
A

Lennox-Gastaut Syndrome

75
Q

3 Hz spike and waves

A

Absence seizures

76
Q

Treatments for Absence Seizures

A

Ethosuximide, VPA, LTG, ZNA

77
Q

Felbamate

A

Aplastic Anemia

78
Q

Topiramate

A

Dopamax - clouds cognitive function

- Renal stones and acidosis

79
Q

Lamotrigine

A

SJS, TEN

80
Q

Oxcarbazepine

A

Hyponatremia

[Pediatric Board Review] (17 decks)

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