PEDS NEURO 3 - Hydrocephalus, SMA, GBS, DMD, Neurofibromatosis, Febrile Seizure Flashcards Preview

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Flashcards in PEDS NEURO 3 - Hydrocephalus, SMA, GBS, DMD, Neurofibromatosis, Febrile Seizure Deck (42)
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1

What condition is this?

Slowly evolving accumulation of CSF over weeks to months

 

Hydrocephalus

2

Etiology of Hydrocephalus

Congenital (genetic abnormalities or developmental disorders)

or

Acquired (stroke, infection, tumor, trauma/bleeding)

3

The following are sx of which condition? 

Sx related to ventricular distention and increased ICP due to obstruction of CSF flow

HA, vomiting, AMS, visual changes, ocular nerve palsies, and focal neurologic findings

Infants: nonspecific; vomiting, lethargy, irritability, bulging fontanelle, or poor feeding

Hydrocephalus

4

Dx of Hydrocephalus

Vitals: bradycardia, HTN, altered respiration (think brainstem)

Inc. head circumference

bulging anterior fontanelle

abnormal skull contour

CN dysfunction

papilledema

5

Hydrocephalus Tx

Temporary, symptomatic relief: loop diuretic, acetazolamide

Surgical intervention: remove obstructive lesion, VP shunt

6

What condition is this? 

Progressive degeneration of the anterior horn cells --> progressive weakness of lower motor neurons

genetic (autosomal recessive) 

Spinal Muscular Atrophy 

7

Presents with progressive proximal weakness , decreased spontaneous mvmt, “floppiness”

Begins between 6 mos - 6 years (usually infancy); rate of progression varies

Loss of head control, loss of leg movement

Normal mental, social and language skills. Sensation is preserved.

Decreased facial expression and drooling

Clinical Px of which condition? 

Spinal Muscular Atrophy

8

Dx of spinal muscular atrophy (3)

EMG, muscle bx, DNA testing

9

Mgmt/Tx of spinal muscular atrophy

  • Sx therapy to improve flexibility,
  • prevent infections,
  • maintain social, language and intellecual stimulation

10

Antenatal: Before 6 mo 

Never sits independently 

Floppy child, no control of head movements, normal facial expression, swallowing difficulty, paradoxal breathing, fasiculation of the tongue

Survival: <6mo

Death from respiratory insufficiency

Which condition is this? 

SMA1 Werdnig-Hoffmann disease

(Spinal Muscular Atrophy)

 

11

Onset at 7-18 mo old 

sits independently, never walks independently

scoliosis, joint contractures, postural tremors of the hands, fasiculations of limb muscles. 

Life expectancy: death occurs < age 30-40 from respiratory insufficiency

Which condition is this? 

SMA2 Intermediate type

(Spinal Muscular Atrophy)

12

Onset after 18mo-30yr

Walks independently

some pts become wheelchair-dependent in childhood

scoliosis, joint contractures, postural tremors of the hands, fasciculations of limb muscles. 

Life expectancy: Normal

Which condition is this? 

SMA3 Kugelberg Welander Disease

(Spinal Muscular Atrophy)

13

Onset after 30 yrs

Normal motor milestones

Pts can become wheelchair-dependent

normal life expectancy 

What condition is this? 

SMA4 Adult-onset (very rare) 

(Spinal Muscular Atrophy)

14

Acute immune-mediated polyneuropathy

Heterogenous syndrome

Which condition is this? 

Guillain Barre Syndrome

15

Etiology of GBS

Post-infectious

Respiratory or GI infection

Campylobacter jejuni (majority), cytomegalovirus, Epstein-Barr virus, and Mycoplasma pneumoniae infections, MCV4/influenza vaccine

16

Hallmark findings of GBS

Ascending weakness (symmetric)

Many have sensory symptoms

Loss of DTRs early

May have autonomic nerve dysfunction

Children- refusal to walk and leg pain are most common presenting symptoms

17

Dx of GBS

LP: ++ CSF protein w/o increased WBC

Electromyography (EMG)

18

Prognosis of GBS

85% of children have excellent recovery

May require ventilator support

Death from autonomic dysfunction, respiratory failure, complications (3-4%): PNA, PE, cardiovascular collapse

19

Tx of GBS

IVIG: Combat invading organisms- lessen attack on NS

Plasmapheresis: Decrease severity and duration, removes Ab from circulation

 

20

Long term sequelae of GBS  

May have residual paresthesia, fatigue, limb weakness

21

X-linked recessive- absence of dystrophin protein

Pathophysiology of what condition? 

DMD

22

Calf hypertrophy and proximal leg/pelvic weakness

Waddling gait and inability to rise from ground easily

Gower’s sign

Proximal muscles affected first, then distal; lower first, then upper

Clinical Px of which condition? 

DMD

23

Boys exhibit trait around age 3- rapidly worsens

Develop awkward gait & unable to run properly

Slower to develop motor milestones- walking/climbing stairs

May have mild cognitive development, global developmental delay

Which condition is this? 

DMD

24

Dx of Duchenne Muscular Dystrophy (DMD)

(4 things)

Muscle biopsy: muscle fiber degeneration and regeneration with connective tissue

EMG

++Serum CK levels: peaks by age 2; 10 to 20 times the upper limit of normal 

Genetic testing available for prenatal dx

25

Tx of Duchenne Muscular Dystrophy (DMD)

(3)

Glucocorticoids: may prolong or extend independent ambulation by 2.5yrs if started between ages 4-8

Eteplirsen, deflazacort: new tx

 

26

Mgmt of Duchenne Muscular Dystrophy (DMD)

(2 things )

supportive

Close pulmonary & cardiac follow up should be maintained due to risk of cardio pulmonary failure in 2nd & 3rd decade of life

27

Genetic disorder in which nerve tissue tumors cause nerve/brain damage

 

Patho of which condition? 

Neurofibromatosis

28

Which type of Neurofibromatosis is the following? 

more common, autosomal dominant on chromosome ____.

peripheral type

More skin and brain abnormalities

Type 1 Neurofibromatosis

Chromosome 17

29

Which type of Neurofibromatosis is the following? 

More severe, more spinal cord abnormalities

Incurable disease-multiple intracranial and spinal tumors

central type

Chromosome ___. 

Type 2 Neurofibromatosis

Chromsome 22

30

CAFE SPOT Neurofibromatosis Type 1

Cafe-au-lait spots

Axillary, inguinal freckling

Fibroma

Eye: lisch nodules

Skeletal: bowing leg

Pedigree/Positive fam hx

Optic Tumor (glioma)