Neurology Flashcards
Neurocutaneous syndromes
Neurofibromatosis
Sturge Weber
Tuberous sclerosis
Slowly developing back pain in child +
Neuro dysfunction +
Step off in lumbosacral area
What is it?
Spondylolisthesis
= developmental DO caused by forward slip over vertebrae (usually over L5 or S1)
MIgraine ppx
Amitryptyline
Propranolol
Valproate
Topiramate
Myelomenigocele
Increased AFP
- screen at 16-18 wks
Usually in lumbosacral region
Meninges + spinal cord protrude
Physio issues:
- +/- bowel, bladder incontinence
- +/- flaccid paralysis
- absent DTRs
- hydocephalus assoc w/ type 2 Chiari defect
Meningocele
Meninges herniate through defect in posterior vertebral arches
+/- assoc w/ hydrocephalus
Spina bifida
Defect in closure of posterior vertebral arches adn laminae usually at L5 and S1
Most are asymptomatic
How test for neural tube defects?
AFP
Acetylcholinesterase
@ 16-18 wks
AFP elevated in meningocele and myelomeningocele. OK in spina bifida
Febrile seizure
1 seizure disorder of childhood (9 mo - 5 yo)
Usually generalized, tonic-clonic lasting few seconds to minutes
Atypical febrile seizures > 15 min
Dx
- EEG NOT needed
- Always consider meningitis!!!
- no anticonvulsants
- use antipyretics
- rectal diazepam or lorazepam if febrile seizure prolonged
Infantile spasms
Generalized seizure
Start 4-8 mo age
Possible etiology: corticotropin releasing hormone overproduced –> neuronal hyperexcitability and seizures
3 types:
- flexor spasms (flexion head, arms, neck ontro trunk)
- extensor spasms (extension of tunk and extremities)
- mixed spasms (flexion and extension)
EEG - hypsarrhythmia
Tx
- ACTH
- prednisone
Absence seizure
Generalized seizure
Not common < 5 yo
girls > boys
No aura, no postictal
EEG pattern = generalized, symmetrical 3 Hz spike and wave activity on nl background (provoke by hyperventilate during EEG)
Tx absence
Valproate
Ethosuximide
Myoclonic episodes
Brief, symmetric contractions w/ loss of body tone
Pts fall or slump forward
Benign myoclonus of infancy can be confused with infantile spasms - but EEG is normal and seizures resolve by 2 year
Partial seizures
3 types
- simple
- complex
- benign focal
Simple
- 10-20s
- confused with tics
- motor activity most common sx, no automatisms
Complex
- auras
- automatism common
Benign (rolandic)
- focal motor w/ generalized spread
- start @ 5 yo –> stop at adolescence
Cerebral palsy
- general info
D/o impaired motor functioning and posture
Onset before birth or year 1
NOT progressive
Spastic diplegia
Seen in LBW infants
Lower extremities more involved
Increased muscle tone
Increased DTR
Contractures
Seizures
Spastic quadriplegia
Type of CP
ALl 4 extremities equally involved
Scoliosis common
Assoc w/
- severe asphyxia
- LBW
- MR
- seizures
Spastic hemiplegia
Type of CP
Involves 1 side of body only
Cognitive function spared? seizures commom
Extrapyramidal form of CP
Hypotonia
Choreoathetosis (involuntary mvmts)
Dystonia
Can be assoc w/ kernicterus
Ataxic form of CP
Hypotonia
Brisk reflexes
Severe cognitive delays
Any lab workup for CP
NO
Rett syndrome
Neurodegenerative DO of unknown cause
ONLY in girls
Onset < 1 yo
- loss of developmental milestones
- acquired microcephaly
Complications:
- generalized tonic clonic seizures
Hydrocephalus
- types
- dx
- tx
Usually 2/2 impaired absorption of CSF
Obstructive vs Nonobstructive
Obstructive - obstruction in ventricular system
Nonobstructive - obliteration of subarachonid cisterns or malfunction of villi
Dx
- US
- CT
- MRI
Tx:
- acetazolamide or furosemide for temporary relief
- shunt
Complications = infection 2/2 steph epi at shunt
Macewen sign
the is a sign used to help to diagnose hydrocephalus and brain abscesses.
Tapping (percussion) the skull near the junction of the frontal, temporal and parietal bones will produce a stronger resonant sound when either hydrocephalus or a brain abscess are present.
No Hydrocephalus + foreshortened occiput suggests…
Arnold Chiari malformation I
- downward displacement of the cerebellar tonsils through the foramen magnum
- Is generally asymptomatic during childhood, but often manifests with headaches + urinary frequency + neck pain
- less pronounced then type II
- not associated w/ hydrocephalus
Hydrocephalus + myelomeningocele suggest…
Arnold Chiari malformation II
- there is a larger cerebellar vermian displacement.
- low lying torcular herophili; The position of the torcular herophili is important for distinction from Dandy-Walker syndrome in which it is classically upturned
Cystic expansion of 4th ventricle of posterior fossa + hydrocephalus + prominent occiput
Dandy walker malformation
- absence or partial cerebellar vermis
Papilledema
Gait abnormalities
Werdnig-Hoffman Disease
Degnerative disease of anterior horn cells in spinal cord (motor neurons + motor nuclei in brains tem
Autosomal recessive
Happens < 2 yo, often in utero
Sx:
- often lie in frog leg position
- hypotonia, flaccid quadriplegia
- normal intelligence
- fasiculations of tongue
- spares extraocular muscles - EOM will be intact
Tx: none
Guillain Barre
Post infectious polyneuropathy
- demyelination in PERIPHERAL motor and sometimes sensory nerves
Assoc with:
- C jejuni
- Mycoplasma pneumoniae
Ascending weakness + paralysis
Usually 10 days after virus
can last days to weeks
PE:
- DTR lost early
- resp insufficiency can happen!
Dx:
- CSF protein elevated
- nl glucose, WBC
Tx:
- admit for observation if resp distress
- IVIG
- steroids
Charcot Marie Tooth
1 genetic neuropathy
Autosomal dominant
Peroneal muscular atrophy / tibial N atrophy too
- gait distrubance
- clumsy
- trip over feet
- pes cavus
- tremor
- variable sensory loss
Dx:
- decreased motor and sensory conduction
- sural N biopsy –> onion bulb formations surround axons
- interstitial hypertrophic neuropathy**
Tx:
- orthotics
Myasthenia gravis
Autoimmune
Destroy Ach receptors at postsynaptic junction
- Ach release is normal
Presentation:
- ptosis
- extraocular muscle weakness
- dysphagia
- weakness of limb-girdle and distal muscles of hands and feet
Rapid muscle fatigue
Dx:
- EMG more diagnostic than muscle bx - decremental response to repetitive nerve stimulation
- Anti-Ach antibody (but not in all)
- hashimoto thyroiditis
- edrophonium test
2 forms of neonatal myasthenia
Transient
- born to moms with myasthenia
- only a few weeks
Congenital
- rare
- not caused by receptor antibodies
- poor response to therapy
- no remission
Tx myasthenia gravis
Neostigmine Physostigmine ( need greater dosage but has longer activity)
Long term steroids
Thymectomy
Plasmapheresis
IvIG
Complications of MG
Prognosis?
Don’t use:
- neuromuscular blocking agents
- avoid aminoglycosides - potentiates
Prognosis
- remission vs permanent disease; varies
Neurofibromatosis
- definition
- etiology
- PE
AD
Abnormality of neural crest differentiation during embryogenesis
2 types: 1 and 2
PE:
- cafe au lait spots
- Lisch nodules
- optic N gliomas
- scoliosis
Lisch nodules
pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris
Neurofibromatosis
- dx
- tx
Dx NF1 (need 2 of the following)
- > = 5 cafe au lait spots > 5 mm prepubertal or > 6 cafe au lait spots > 15 mm postpubertol
- axillary/infuinal freckling
- > 2 iris Lisch nodules
- > 2 neurofibromas
- ossous lesion-kyphoscoliosis, sphenoid dysplasia
- optic gliomas
Dx NF-2 (1 needed):
- bilateral 8th N masses
- parent, sibling, child with NF2
Tx
- no specific
- genetic counseling
- annual ophtho
Sturge Weber
Neurocutaneous syndrome
Assoc w/ vascularization that occurs sporadically in embryonic period
Characteristics:
- port wine stain in trigeminal area**
- intracranial calcifications
- hemiparesis contralateral to port wine stain
- +/- MR
Tx:
- seizure control
- cosmetic control of port wine stain
At risk for:
- seizures –> hemiparesis
- glaucoma
Hx of trauma to soft palate with foreign body
Hemiparesis now…what is going on?
Internal carotid A dissection –> stroke
Confirm with MRI/MRA of brain
Medullobastomas are most commonly found
From cerebellar vermis
Infants, event if increased ICP, have decreased risk of herniation s/p LP because
of open fontanels
Malignant hyperthermia
Myopathy inherited as AD trait on ch 19
Codes for ryanodine receptor = Ca release channel
Dx:
- caffeine contracture test –> + muscle spasm
Acute disseminated encephalomyelitis
Autoimmune demyelinating disease
Children < 10 yo
Can follow different infections (URI, varicella, mycoplasma)
MRI shows multiple white plaques like MS
MOrtality is high
Tx - corticosteroids
Tumor locations for kids
< 1 yo - supratentorial
1-10 yo - infratentorial
> 10 yo - supratentorial
Botulism in infant commonly presents as
constipation
