LECTURE 9: PEDIATRICS Flashcards
NS first appears at about ___ of gestation
21 days (before pt knows she is pregnant)
neural tube closure occurs at ___ days, from ___ to _____
23-25 days, anterior to posterior
neural tube (spinal cord and brain) starts at
21 days (closure)
24 days: fused
telencephalon forms
cerebral hemispheres
diencephalon
thalamus, GP, hypothalamus
mesencephalon becomes
midbrain
metencephalon forms
pons, cerebellum
myelencephalon
medulla
dysraphism etiology
unknown mainly
but prevention: folate!
risk factors; low SES (maternal nutritional status, prenatal care, teratogens (alcohol, retinoic acid, valproic acid)
seizure meds could cause
DYSRAPHISM
chemo meds (folate metabolism)
diagnosis of dysraphism
ultrasound
alpha-fetal protein
prevention of dysraphism
FOLATE
zika causes
ancephaly
dysraphism is a disorder of
neural tube closure (anterior neuropore open: cranial dysraphism: brain coming out with skull defect)
what is spinal dysraphism?
spina bifida (vertebral abnormality)
3 types of spina bifida
myelomeningocele: SC and meninges through defect
meningocele: dura and arachnoid herniation
occulta: vertebral arch defect only, 10% of pop (tuft of hair)
spina bifida occulta is usually
asymptomatic
skin abnormalities maybe over defect
L5-S1
myelomeningocele
B AND B DYSFUNCTION
SC stuff
often associated hydrocephalus
*Sx helps with infection risk (high risk of meningitis) but neuro deficits remain
*risk for tethered cord syndrome
Tethered Cord
when patient grows, spinal cord is stuck
LMN dysfunction (cauda equina)
*prevention of mvmt of conus medullaris
most common is unilateral one leg LMN
arnold-chiari malformation
(descended cerebellar tonsils-incidental tonsillar herniation)
less than 5 mm is not a problem, often not symptomatic
type I AC malformation
cerebellar tonsils displaced > 6mm
type II AC
associated myelomeningocele (syrinx in spinal cord)
type III AC malformation
associated encephalocele
what are symptoms of arnold chiari malformation?
hydrocephalus (poor prog) or later with cerebellar, medullary, cranial nerve signs (or headache)
how to treat arnold chiari malformation
close myelomeningocele,
VP shunt for hydrocephalus
posterior fossa decompression
dandy walker malformation is what
cerebellar vermis abnormality, large cyst in posterior fossa
*common hydrocephalus
*spastic diplegia
*mental retardation
developmental delay is defined as
less than 70% developmental quotient
global delay: 2 or more domains
what could mimic regression?
- misperception of attained milestone
- seizures
- spasticitiy
- movement disorders
- hydrocephalus
What is down syndrome?
multi-organ disorder (congenital chromosomal abnormality of 3 copies of 21)
neurocutaneous disorders
skin manifestations of neurological disorders
phakomatoses
red flags
fisting past 3 months
rolling before 3 months, not rolling after 7
MORO after 6 months
ATNR after 7 months
not sitting after 9 months
not talking after 2 years
echolalia after 3 yrs
stutter after 4 yrs
HANDEDNESS BELOW 12 MONTHS OR ROLLING BEFORE 3 MONTHS = WEAKNESS
important features of down syndrome
trisomy 21
*short, stubby digits
*small pelvis
*AA instability of c-spine
*hypotonia
*intellectual disability
*SEIZURES
*cardiac and GI defects
important features of fragile x syndrome
most common chromosomal cause of intellect. disability
low IQ, ADHD, seizures
low mm tone and hyperextended
what does TORCHS stand for
toxoplasmosis
other (zika)
rubella
cytomegalovirus
herpes simplex, HIV
syphilis
(infection causes of delay)
what is CP?
group of permanent disorders of mvmt/posture
cause activity limit
non-progressive disturbances in fetal/infant brain
what can cause CP
hypoxia (10%)
toxins
metabolic disturbances
infections TORCHS
genetic, traumatic, vascular
what is most common type of CP?
spastic (85-90%)
*others include dyskinetic, ataxic, mixed
spastic hemiplegia, diplegia, quadriplegia
hemiplegia: arms (MCA)
diplegia: scissoring, adductor spasm
quadriplegia: seizures, intellectual disability, MOST SEVERE
dyskinetic CP
Basal ganglia lesion
can’t walk
chorea, athetosis, dystonia
what is the rarest form of CP?
ataxia CP
*cerebellum
*truncal/gait ataxia
*not responsive to drugs/PT
2 types of neurocutaneous disorders
neurofibromatosis
tuberous sclerosis
2 types of neurofibromatosis
NF1: PNS (cafe au lait, neurofibromas, PNS, optic glioma)
NF2: CNS (acoustic neuromas, meningioma, gliomas)
*scoliosis, hypotonia, poor coordination
*hearing, vision, language, epilepsy
*ADHD
*pain
*hypertension
*cancers
what is tuberous sclerosis?
ADominant
NS, skin, bones, retina, kidney
calcifications on brain and into ventricles
*skin macules, retina hemartomas, CNS (mental retardation and seizures)
adrenoleukodystrophy
x-link recessive
boys, 8
normal, then vision loss, dementia, seizures, spastic gait, behavior changes
*adrenal failure (high VLCFA)
metachromatic leukodystrophy
lacking arylsulfatase A enzyme
A recessive
*degen of Central and peripheral meylin
*gait, mental deterioration, seizures
duchenne’s MD
3-5: DF, hip flex/ext weak, hyperlordotic and toe walking
calf pseudohypertrophy
*wheelchair by 9-12 years (20: respiratory weakness lead to death or ventilator)
Becker MD
toe walking
pseudohypertrophy
less severe, normal IQ, rhabdo, heart probs, quad weak, cramps
*ambulatory until 30 ish
*dystrophin levels in mm!
spinal mm atrophy levels 0-4
LOSS OF SMN1 protein, LMN looks like ALS
type 0: prenatal, die before 6 mo
type 1: never sit (before 6 mo, die before 2 years)
type 2: never stand (6-12 mo, die around 25)
type 3: never run (after 1 yr, normal life)
type 4: adult prox leg weakness
