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D2 E1 Shea > PEDS NEURO 3 - Hydrocephalus, SMA, GBS, DMD, Neurofibromatosis, Febrile Seizure > Flashcards

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

1
Q

What condition is this?

Slowly evolving accumulation of CSF over weeks to months

A

Hydrocephalus

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2
Q

Etiology of Hydrocephalus

A

Congenital (genetic abnormalities or developmental disorders)

or

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

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3
Q

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

A

Hydrocephalus

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4
Q

Dx of Hydrocephalus

A

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

Inc. head circumference

bulging anterior fontanelle

abnormal skull contour

CN dysfunction

papilledema

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5
Q

Hydrocephalus Tx

A

Temporary, symptomatic relief: loop diuretic, acetazolamide

Surgical intervention: remove obstructive lesion, VP shunt

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6
Q

What condition is this?

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

genetic (autosomal recessive)

A

Spinal Muscular Atrophy

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7
Q

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?

A

Spinal Muscular Atrophy

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8
Q

Dx of spinal muscular atrophy (3)

A

EMG, muscle bx, DNA testing

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9
Q

Mgmt/Tx of spinal muscular atrophy

A
  • Sx therapy to improve flexibility,
  • prevent infections,
  • maintain social, language and intellecual stimulation
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10
Q

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?

A

SMA1 Werdnig-Hoffmann disease

(Spinal Muscular Atrophy)

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11
Q

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?

A

SMA2 Intermediate type

(Spinal Muscular Atrophy)

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12
Q

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?

A

SMA3 Kugelberg Welander Disease

(Spinal Muscular Atrophy)

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13
Q

Onset after 30 yrs

Normal motor milestones

Pts can become wheelchair-dependent

normal life expectancy

What condition is this?

A

SMA4 Adult-onset (very rare)

(Spinal Muscular Atrophy)

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14
Q

Acute immune-mediated polyneuropathy

Heterogenous syndrome

Which condition is this?

A

Guillain Barre Syndrome

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15
Q

Etiology of GBS

A

Post-infectious

Respiratory or GI infection

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

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16
Q

Hallmark findings of GBS

A

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

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17
Q

Dx of GBS

A

LP: ++ CSF protein w/o increased WBC

Electromyography (EMG)

18
Q

Prognosis of GBS

A

85% of children have excellent recovery

May require ventilator support

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

19
Q

Tx of GBS

A

IVIG: Combat invading organisms- lessen attack on NS

Plasmapheresis: Decrease severity and duration, removes Ab from circulation

20
Q

Long term sequelae of GBS

A

May have residual paresthesia, fatigue, limb weakness

21
Q

X-linked recessive- absence of dystrophin protein

Pathophysiology of what condition?

A

DMD

22
Q

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?

A

DMD

23
Q

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?

A

DMD

24
Q

Dx of Duchenne Muscular Dystrophy (DMD)

(4 things)

A

Muscle biopsy: muscle fiber degeneration and regeneration with connective tissue

EMG

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

Genetic testing available for prenatal dx

25
Q

Tx of Duchenne Muscular Dystrophy (DMD)

(3)

A

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

Eteplirsen, deflazacort: new tx

26
Q

Mgmt of Duchenne Muscular Dystrophy (DMD)

(2 things )

A

supportive

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

27
Q

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

Patho of which condition?

A

Neurofibromatosis

28
Q

Which type of Neurofibromatosis is the following?

more common, autosomal dominant on chromosome ____.

peripheral type

More skin and brain abnormalities

A

Type 1 Neurofibromatosis

Chromosome 17

29
Q

Which type of Neurofibromatosis is the following?

More severe, more spinal cord abnormalities

Incurable disease-multiple intracranial and spinal tumors

central type

Chromosome ___.

A

Type 2 Neurofibromatosis

Chromsome 22

30
Q

CAFE SPOT Neurofibromatosis Type 1

A

Cafe-au-lait spots

Axillary, inguinal freckling

Fibroma

Eye: lisch nodules

Skeletal: bowing leg

Pedigree/Positive fam hx

Optic Tumor (glioma)

31
Q

Clinical Px of which condition?

Café-au-lait spots: numerous flat, irregularly shaped, light brown macules greater than 0.5cm present at birth

Neurofibromas that form in late adolescence: Soft or firm pedunculated tumors that develop along a nerve

Greater incidence of CNS tumors: Astrocytoma, meningioma, schwannoma

cognitive impairment

From benign learning disability to MR; may also be associated with seizures, macrocephaly, neuropathy

A

Neurofibromatosis Type 1

32
Q

Tx of Neurofibromatosis Type 1

A

Surgical excision of tumors

Genetic counseling & screening (risk to sibs is 50%)

33
Q

Complications of Neurofibromatosis Type 1

A

Seizures, deafness, short stature, early puberty & HTN (25%)

Optic glioma ~15%

34
Q

Clinical Px of which disease?

Dominantly inherited neoplasia syndrome- rare autosomal dominant disease

Manifests as bilateral vestibular schwannomas (VIII nerve tumors)

May appear in childhood w/ loss of hearing

Other tumors of the brain & spinal cord are common: Meningiomas, Ependymomas (brain or spinal cord)

A

Neurofibromatosis Type 2

35
Q

T/F:

Vestibular schwannomas virtually never occur in NF type 1

Café-au-lait spots are NOT part of NF type 2

A

TRUE

36
Q

Most common neurologic disorder of infants & young children

Peak incidence 12 – 18 months

AGE-DEPENDENT phenomenon: Only occur in children 6 mos – 5 years old!

Which condition is this?

A

Febrile Seizure

37
Q

Generalized seizure <15 minutes & doesn’t recur during 24-hour period

High Fever: 104

Clinical Px of which condition?

A

Febrile Seizure

38
Q

Etiology of Febrile Seizure

A

Not associated with specific neurologic cause (e.g. CSF infection or inflammation)

HHV-6, influenza

39
Q

Dx of Febrile Seizure

A

Clinical dx: testing not necessary in well-appearing children

40
Q

Tx of Febrile Seizure

A

IV benzos for Sz > 5 minutes

Buccal midazolam may also be used if no IV access

41
Q

What are the 3 types of febrile seizures?

A

simple

complex

febrile status epilepticus

42
Q

Prognosis of Duchenne Muscular Dystrophy

  • Usually wheelchair bound by what age?
  • Loss of UE movement by what age?
  • Death due to PNA or CHF at what age?
  • Average life span?
A
  • Wheelchair: 12 yrs
  • Loss of UE mvmnt: 16 yrs
  • Death: early 20’s
  • Avg lifespan: 25 yrs

D2 E1 Shea (13 decks)

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