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NEUROMUSCULAR > neurocutaneous diseae for peds pt 2 > Flashcards

neurocutaneous diseae for peds pt 2 Flashcards

1
Q

what are a group of mostly HEREDITARy disease affecting skin and NS also refered to as phakomatoses

A

neuro cutaneous disorder

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2
Q

what are the 2 types of neuro cutaneous disorders

A

– Neurofibromatosis – Tuberous sclerosis

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3
Q

is Neurofibromatosis autosomal dom or rescessive and is it more common in girls or bots

A

dom and equal

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4
Q

NF-1 (peripheral nervous system) affected which chromosome ? what what does it present with

A

17

  • café-au-lait spots on skin, neurofibromas on skin, peripheral nerves, roots, optic pathway glioma
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5
Q

NF-2 (____ nervous system) affected which chromosome

A

central
22

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6
Q

which Neurofibromatosis presents with bilateral acoustic neuromas, meningioma, gliomas and mild cutaneous manifeations

A

NF-2 (central)

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7
Q

which Neurofibromatosis type is inside the nerve itself can’t really do anything

A

type 1 (peripheral )

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8
Q

what does Neurofibromatosis Type 2 show on the MRI /CT

A

8th CN coming out of auditory canal

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9
Q

• Scoliosis,Hypotonia&poorcoordination
• Hearing impairment,language delay
• Vision impairment from optic gliomas
• Epilepsy from brain tumors(mostly grade 1 astrocytoma)
• Attention deficit and learning disability
• Pain from neural foraminal or spinal cord compression
• Vascular dysplasia of renal artery (hypertension)or brain
• Othermalignancy

these are clinical manifestation ofr what

A

Neurofibromatosis

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10
Q

what is autosomal dominant and affects chromosome 9 and 18

A

tuberous sclerosis

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11
Q

what chromosome does Tuberous Sclerosis affect

A

9 and 16

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12
Q

if you check a pat MRI and u see white , hard nodules on the surface of brain and jutting into ventricles, calcifications and lesions in NS , skin , bones, retina and kidney what can we suspect

A

tuberous sclerosis

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13
Q

what will present of the skin, retina and CNS for tuberous sclerosis

A

skin: depigmented macules , facial ademona
retina : hamartomas
CNS: > 50% w mental retardation , seizure common

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14
Q

what is Leukodystrophies

A

Progressive genetic metabolic disorders affecting myelin metabolism demyelinating

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15
Q

what are the 3 types of leukodystrophies

A

– Metachromatic leukodystrophy (MLD)
– Adrenoleukodystrophy (ALD)
– Krabbe (globoid) leukodystrophy

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16
Q

which Leukodystrophies is X lined recessive (affecting boys) , has normal age development , associated with adrenal failure and labs show elevated level of very long chain fatty acid and at age 8 they show behavioral change, visual loss, progressive dementia, seizures, progressively spastic gait

A

Adrenoleukodystrophy

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17
Q

Adrenoleukodystrophy shows what abnormality in the brain

A

white matter abnormalities predominates in parietal occipital region

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18
Q

which Leukodystrophies is autosomal recessive , and is a degeneration of central and peripheral myelin .. presenting with Gait failure, mental deterioration, seizures

A

Metachromatic Leukodystrophy

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19
Q

Metachromatic Leukodystrophy has a deficiency of what

A

arylsulfatase A

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20
Q

what will a pateitns with Metachromatic Leukodystrophy present with

A

gait failure , mental deterioration ,, and eizures

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21
Q

what does Metachromatic Leukodystrophy presents with

A

Gait failure, mental deterioration, seizures

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22
Q

what has more diffuse white matter invovlment Metachromatic Leukodystrophy (MLD) or Adrenoleukodystrophy (ADL)

A

MLD

23
Q

what are 4 causes of progressive proximal weakness

A

-SC disorders
-myopathy
- myasthenic syndromes
- spinal mm atrophy

24
Q

what is a group of progressive hereditary disorders of muscle

A

mm dystrophy

25
Q

what is myotonias

A

involuntary persistent mm activity occurring in respond to activity of mm

26
Q

what are the 2 groups of myopathies

A

metabolic and congenital

27
Q

what types of mypathiy is this x Relatively non-progressive group of disorders presenting in young children

A

congenital

28
Q

what is the most common Muscular dystrophy in children

A

duchenne

29
Q

at age 3-5 what do u develop for duchenne MD

A

ankles DF
hip flexor and extensor weakness
toe walking
hyperlordotic posture

30
Q

what will kids with duchenne develop later on

A

quad, neck, abdominal, upper
extremity and respirtaory muscle weakness`

31
Q

how will the calf mm present with duchenne

A

pseudohypertropy

this is when a mm enlarges but not bc it is strong , it is from mm atrophy

32
Q

when do duchenne boy enter a wheelchair

A

by 9-12 years old

33
Q

what will boys age 9-12 in a WC present with

A

-proximal weakness early
- 1/3 w mental retardation
- by age 20 respiratory weakness
-Pseudohypertrophy of calves.
– High CK.

34
Q

what muscular dystrophy is a later onset , less severe and may have normal life span

A

beckers MD

35
Q

which muscular dystrophy has no muscle protein ( dystropian)

A

Duchenne

36
Q

• Ambulatoryonaverageuntil30yo • IQnormal
• Presentation:
– Cramp-myalgias
– Isolated quadriceps weakness – Recurrent rhabdo
– Asymptomatic hyper-Ckemia – Cardiomyopathy

what MD is this

A

becker

37
Q

what is the current management of Dystrophinopathies

A

mediations

38
Q

what is the gene therapy called for Dystrophinopathies

A

elevidys

-AAV delivered micro dystrophin gene
-approved for ages 4-5

39
Q

what ASO’s are for Dystrophinopathies

A

Eteplirisen (exondys 51), Golodiresen (Vyvondys 53),
Viltolarsen (viltepso –ex 53), Casmiersen (Amondys 45)

40
Q

what are corticosteroids for Dystrophinopathies)

A
  • prednisone
    -deflazacort
  • DEXA, vitamin D
41
Q

is spinal muscular atrophy autosomal recessive or dominant

A

recessive

42
Q

if a pateint has a loss of SMN1 protein and results in progressive loss of motor neurons in spinal cord what can we suspect

A

spinal muscular atrophy

43
Q

what is spinal muscular atrophy type 1, 2, 3,,and 4

A

1- never sit
2- never stand
3- never run
4- adult

44
Q

what is the SMA treatment

A

Nusinersen (Spinraza) approved
– Approved for all with SMA

45
Q

what is zolgensma for SMA treatment

A

IV gene therapy - delivery copy of SMN 1 gene
very exepensive

46
Q

what is RIsdiplam (evrysdi) approved for

A

SMA treatment

47
Q

what is Eating food containing C. botulinum (honey, corn syrup)

A

infantile botulism

48
Q

Infantile Botulism prevents release of

A

acetylcholine

49
Q

Infantile Botulism presents with what symptoms

A

Acute generalized weakness,
loss of reflexes,
hypotonia,
ptosis,
poorly reactive pupils,
respiratory difficulty

50
Q

what are risk for BP injury in kids

A

-high birth weight
- prolonged delivery
- abnormal presentations

51
Q

what injury may occur due to traction during delivery

A

brachial plexus injury

52
Q

Which plexus does the brachial plexus injury commonly affect and causes weakness to what mms

A

affects ipper plexus and weakness to C5-C6

53
Q

what is Erb’s palsy and what is weak

A

head pushed down and way from shoulders
injury to C5-C6 fibers

weakness of shoulder abduction , elbow flexion and supination

54
Q

what is usually caused by injuries where the arm is pulled upwards, pt has C8-T1 distraction numbness and presents w claw hand

A

klumpke palsy

NEUROMUSCULAR (15 decks)

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