neurocutaneous diseae for peds pt 2

Question 1

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

Answer 1

neuro cutaneous disorder

Question 2

what are the 2 types of neuro cutaneous disorders

Answer 2

– Neurofibromatosis – Tuberous sclerosis

Question 3

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

Answer 3

dom and equal

Question 4

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

Answer 4

17

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

Question 5

NF-2 (____ nervous system) affected which chromosome

Answer 5

central
22

Question 6

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

Answer 6

NF-2 (central)

Question 7

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

Answer 7

type 1 (peripheral )

Question 8

what does Neurofibromatosis Type 2 show on the MRI /CT

Answer 8

8th CN coming out of auditory canal

Question 9

• 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

Answer 9

Neurofibromatosis

Question 10

what is autosomal dominant and affects chromosome 9 and 18

Answer 10

tuberous sclerosis

Question 11

what chromosome does Tuberous Sclerosis affect

Answer 11

9 and 16

Question 12

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

Answer 12

tuberous sclerosis

Question 13

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

Answer 13

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

Question 14

what is Leukodystrophies

Answer 14

Progressive genetic metabolic disorders affecting myelin metabolism demyelinating

Question 15

what are the 3 types of leukodystrophies

Answer 15

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

Question 16

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

Answer 16

Adrenoleukodystrophy

Question 17

Adrenoleukodystrophy shows what abnormality in the brain

Answer 17

white matter abnormalities predominates in parietal occipital region

Question 18

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

Answer 18

Metachromatic Leukodystrophy

Question 19

Metachromatic Leukodystrophy has a deficiency of what

Answer 19

arylsulfatase A

Question 20

what will a pateitns with Metachromatic Leukodystrophy present with

Answer 20

gait failure , mental deterioration ,, and eizures

Question 21

what does Metachromatic Leukodystrophy presents with

Answer 21

Gait failure, mental deterioration, seizures

Question 22

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

Answer 22

MLD

Question 23

what are 4 causes of progressive proximal weakness

Answer 23

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

Question 24

what is a group of progressive hereditary disorders of muscle

Answer 24

mm dystrophy

Question 25

what is myotonias

Answer 25

involuntary persistent mm activity occurring in respond to activity of mm

Question 26

what are the 2 groups of myopathies

Answer 26

metabolic and congenital

Question 27

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

Answer 27

congenital

Question 28

what is the most common Muscular dystrophy in children

Answer 28

duchenne

Question 29

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

Answer 29

ankles DF hip flexor and extensor weakness toe walking hyperlordotic posture

Question 30

what will kids with duchenne develop later on

Answer 30

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

Question 31

how will the calf mm present with duchenne

Answer 31

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

Question 32

when do duchenne boy enter a wheelchair

Answer 32

by 9-12 years old

Question 33

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

Answer 33

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

Question 34

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

Answer 34

beckers MD

Question 35

which muscular dystrophy has **no muscle protein ( dystropian)**

Answer 35

Duchenne

Question 36

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

Answer 36

becker

Question 37

what is the current management of Dystrophinopathies

Answer 37

mediations

Question 38

what is the gene therapy called for Dystrophinopathies

Answer 38

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

Question 39

what **ASO**’s are for Dystrophinopathies

Answer 39

Etepliri**sen** (exondys 51), Golodire**sen** (Vyvondys 53), Viltolar**sen** (viltepso –ex 53), Casmier**sen** (Amondys 45)

Question 40

what are corticosteroids for Dystrophinopathies)

Answer 40

- prednisone -deflazacort - DEXA, vitamin D

Question 41

is spinal muscular atrophy autosomal recessive or dominant

Answer 41

recessive

Question 42

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

Answer 42

spinal muscular atrophy

Question 43

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

Answer 43

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

Question 44

what is the SMA treatment

Answer 44

Nusinersen (Spinraza) approved – Approved for all with SMA

Question 45

what is **zolgensma** for SMA treatment

Answer 45

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

Question 46

what is RIsdiplam (evrysdi) approved for

Answer 46

SMA treatment

Question 47

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

Answer 47

infantile botulism

Question 48

Infantile Botulism prevents release of

Answer 48

acetylcholine

Question 49

Infantile Botulism presents with what symptoms

Answer 49

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

Question 50

what are risk for BP injury in kids

Answer 50

-high birth weight - prolonged delivery - abnormal presentations

Question 51

what injury may occur due to traction during delivery

Answer 51

brachial plexus injury

Question 52

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

Answer 52

affects ipper plexus and weakness to C5-C6

Question 53

what is **Erb’s palsy** and what is weak

Answer 53

head pushed down and way from shoulders injury to C5-C6 fibers weakness of shoulder abduction , elbow flexion and supination

Question 54

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

Answer 54

klumpke palsy