neurocutaneous diseae for peds pt 2 Flashcards
what are a group of mostly HEREDITARy disease affecting skin and NS also refered to as phakomatoses
neuro cutaneous disorder
what are the 2 types of neuro cutaneous disorders
– Neurofibromatosis – Tuberous sclerosis
is Neurofibromatosis autosomal dom or rescessive and is it more common in girls or bots
dom and equal
NF-1 (peripheral nervous system) affected which chromosome ? what what does it present with
17
- café-au-lait spots on skin, neurofibromas on skin, peripheral nerves, roots, optic pathway glioma
NF-2 (____ nervous system) affected which chromosome
central
22
which Neurofibromatosis presents with bilateral acoustic neuromas, meningioma, gliomas and mild cutaneous manifeations
NF-2 (central)
which Neurofibromatosis type is inside the nerve itself can’t really do anything
type 1 (peripheral )
what does Neurofibromatosis Type 2 show on the MRI /CT
8th CN coming out of auditory canal
• 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
Neurofibromatosis
what is autosomal dominant and affects chromosome 9 and 18
tuberous sclerosis
what chromosome does Tuberous Sclerosis affect
9 and 16
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
tuberous sclerosis
what will present of the skin, retina and CNS for tuberous sclerosis
skin: depigmented macules , facial ademona
retina : hamartomas
CNS: > 50% w mental retardation , seizure common
what is Leukodystrophies
Progressive genetic metabolic disorders affecting myelin metabolism demyelinating
what are the 3 types of leukodystrophies
– Metachromatic leukodystrophy (MLD)
– Adrenoleukodystrophy (ALD)
– Krabbe (globoid) leukodystrophy
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
Adrenoleukodystrophy
Adrenoleukodystrophy shows what abnormality in the brain
white matter abnormalities predominates in parietal occipital region
which Leukodystrophies is autosomal recessive , and is a degeneration of central and peripheral myelin .. presenting with Gait failure, mental deterioration, seizures
Metachromatic Leukodystrophy
Metachromatic Leukodystrophy has a deficiency of what
arylsulfatase A
what will a pateitns with Metachromatic Leukodystrophy present with
gait failure , mental deterioration ,, and eizures
what does Metachromatic Leukodystrophy presents with
Gait failure, mental deterioration, seizures
what has more diffuse white matter invovlment Metachromatic Leukodystrophy (MLD) or Adrenoleukodystrophy (ADL)
MLD
what are 4 causes of progressive proximal weakness
-SC disorders
-myopathy
- myasthenic syndromes
- spinal mm atrophy
what is a group of progressive hereditary disorders of muscle
mm dystrophy
what is myotonias
involuntary persistent mm activity occurring in respond to activity of mm
what are the 2 groups of myopathies
metabolic and congenital
what types of mypathiy is this x Relatively non-progressive group of disorders presenting in young children
congenital
what is the most common Muscular dystrophy in children
duchenne
at age 3-5 what do u develop for duchenne MD
ankles DF
hip flexor and extensor weakness
toe walking
hyperlordotic posture
what will kids with duchenne develop later on
quad, neck, abdominal, upper
extremity and respirtaory muscle weakness`
how will the calf mm present with duchenne
pseudohypertropy
this is when a mm enlarges but not bc it is strong , it is from mm atrophy
when do duchenne boy enter a wheelchair
by 9-12 years old
what will boys age 9-12 in a WC present with
-proximal weakness early
- 1/3 w mental retardation
- by age 20 respiratory weakness
-Pseudohypertrophy of calves.
– High CK.
what muscular dystrophy is a later onset , less severe and may have normal life span
beckers MD
which muscular dystrophy has no muscle protein ( dystropian)
Duchenne
• Ambulatoryonaverageuntil30yo • IQnormal
• Presentation:
– Cramp-myalgias
– Isolated quadriceps weakness – Recurrent rhabdo
– Asymptomatic hyper-Ckemia – Cardiomyopathy
what MD is this
becker
what is the current management of Dystrophinopathies
mediations
what is the gene therapy called for Dystrophinopathies
elevidys
-AAV delivered micro dystrophin gene
-approved for ages 4-5
what ASO’s are for Dystrophinopathies
Eteplirisen (exondys 51), Golodiresen (Vyvondys 53),
Viltolarsen (viltepso –ex 53), Casmiersen (Amondys 45)
what are corticosteroids for Dystrophinopathies)
- prednisone
-deflazacort - DEXA, vitamin D
is spinal muscular atrophy autosomal recessive or dominant
recessive
if a pateint has a loss of SMN1 protein and results in progressive loss of motor neurons in spinal cord what can we suspect
spinal muscular atrophy
what is spinal muscular atrophy type 1, 2, 3,,and 4
1- never sit
2- never stand
3- never run
4- adult
what is the SMA treatment
Nusinersen (Spinraza) approved
– Approved for all with SMA
what is zolgensma for SMA treatment
IV gene therapy - delivery copy of SMN 1 gene
very exepensive
what is RIsdiplam (evrysdi) approved for
SMA treatment
what is Eating food containing C. botulinum (honey, corn syrup)
infantile botulism
Infantile Botulism prevents release of
acetylcholine
Infantile Botulism presents with what symptoms
Acute generalized weakness,
loss of reflexes,
hypotonia,
ptosis,
poorly reactive pupils,
respiratory difficulty
what are risk for BP injury in kids
-high birth weight
- prolonged delivery
- abnormal presentations
what injury may occur due to traction during delivery
brachial plexus injury
Which plexus does the brachial plexus injury commonly affect and causes weakness to what mms
affects ipper plexus and weakness to C5-C6
what is Erb’s palsy and what is weak
head pushed down and way from shoulders
injury to C5-C6 fibers
weakness of shoulder abduction , elbow flexion and supination
what is usually caused by injuries where the arm is pulled upwards, pt has C8-T1 distraction numbness and presents w claw hand
klumpke palsy
