Neurology Flashcards
Spinal muscular Atrophy
AR; Most common genetic cause of death in the first year. poor tone, fasciculations, poor feeding, usually starts with LE then UE then respiratory muscles. Diagnose with gene mutation screening
Febrile seizures occur in what ages
6mos to 5 years
Definition of febrile seizure
generalized seizure that lasts <15min, occuring only once in 24 hour period, in a febrile child without an intracranial infection
Treatment of absence seizures
Ethosuximide
Treatment of complex partial seizures
Carbamazepine
Juvenile myoclonic epilepsy
adolescent onset, generalized tonic-clonic seizures, and fast involuntary muscle jerks termed “myoclonus.” both the first generalized tonic-clonic seizures and the myoclonic jerking commonly occur in the morning. worse with sleep deprivation. normal intelligence. lifelong condition. Tx with valproate.
Most common comorbidity in Tourette Syndrome
ADHD
Diagnosis of comorbidity
clinical
SMA
AR, defect in SMN gene, anterior horn nerve degeneration. Wornig Hoffman is the worst type. Facial muscles not involved so face looks “bright”, diffuse hypotonia, tongue fasciculations, areflexia. No cure
Asymmetric crying facies
At rest there is symm, with crying there is drooping of the lower lip on one side. The side that droops is normal. Absence of specific muscle development 2/2 nerve compression. . It may improve if 2/2 compression, but if dont have the muscle, dont improve. Can have other congenital issues (heart defect).
Rett syndrome
X linked disorder, more in females, MEPC2 gene. normal development for the first 6 mos, the development plateaus, head growth slows down, loss of speech or social skills., hand-wringing sterotyped movements. Seizures.
Erb’s palsy
Brachial plexus injury. . Inability to abduct,.
Guillain-Barre syndrome
Acute flaccid paralysis, areflexia, can causes cardiac arrythmias, can have autonomic involvement. Increased protein with no increase in cells in CSF. treated with IVIG or plasmapheresis
When does handedness develop?
not before 18mos
Causes of tethered cord
spinal lipoma, shortened filum terminale, dermal sinus tract
hypotonia and dysmorphism in infancy
Praderwilli, Downs, Zellweger.
Who needs 4g folic acid before and during pregnancy?
Women who have had kids with NTD or on anticonvulsants.
What is the Dandy-Walker malformation
posterior fossa cyst that is continuous with the 4th ventricle, partial or complete absence of the cerebellar vermis and hydrocephalus.
Type 1 Arnold Chiari Malformation
The cerebellar tonsils or vermis are down below the foramen magnum. Symptoms occur due to dysfunction of lower cranial nerves, brainstem or spinal cord. Dysphagia, vertigo, sleep apnea, ataxia, headache and neck pain. STRONG association with syringomyelia.
Type 2 Arnold Chiari Malformation
Most common forma. When 4th ventricle and lower medulla are pushed down below level of foramen magnum. Associate with myelomeningocele and hydrocephalus. More severe than type 1.
Type III Arnold Chiari malformation
Herniation of cerebellum through a cervical spina bifida defect
Klippel-Feil syndrome
Short neck, limited neck motion, low occpital hairline - cervical spine is fused. Associated congenital abnormalities are common - deafness, macrocephaly, hydrocephaly.
Lissencephaly
Associated with Miller Dieker syndrome. No cerebral convolutions - poorly formed sylvian fissure - smooth cerebral surface with thickened cortical mantle.
Miller Dieker Syndrome
deletion of Chromosome 17. Prominent forehead, bitemporal hollowing, anteverted nostrils, micrognathia, lissencephaly
Schizencephaly
Unilateral or bilateral clefts within the cerebral hemispheres. Seizure d/o, microcephaly, Intellectual disability, spastic quadrileplgia
Spastic diplegia
legs have more spasticity than arms. Most commonly associated with IVH and periventricular leukomalacia
Moya moya disease
chronic, occlusive cerebrovascular disease that is associated with sickle cell diease, NF1, trisomy 21, and cranial irradiation. There are extensive collateral vessels surrounding circle of Willis formed from previous occlusions.
Erb palsy
From birth trauma - upper brachial plexus damage. Arm hangs limp in internal rotation with pronated wrist. Normal sensory exam. Treat by putting arm in external rotation
Klumpke palsy
Lower plexus root injury - more sensory effects and vosmotor involvement. Paralysis of flexors and extensors of forearm
What vaccines need to be avoided with egg alelrgY?
Can give MMR. If have had anaphylactic reaction, refer to allergy before giving flu shot. If have mild reaction to egg, give inactivated and watch in office for 30 minutes after.
Landau Kleffner Syndrome
aquired epileptic aphasia - healthy kids lose previously acquired language skills
Side effects of valproate
Hepatotox - weight gain, thrombocytopenia. Very teratogenic.
Carbamazepine side effects
hepatotox, leukopenia, SIADH
Phenytoin side effects
gum hypertrophy, SJS, blood dyscrasia, hirsuitism, ataxia, nystagmus
Lamotrigine side effect
SJS 8/1000 patients
What is most common age for febrile seizures?
6-60 months
What defines simple febrile seizure?
<15 minutes, nonfocal, no recurrance
What defines complex febrile seizure?
lasts >15 minutes, focal, recurs in 24 hours
How often do febrile seizures recur?
35% have recurrance, of those, 50% have a third
What % of kids with febrile seizure go on to develop epilepsy?
1-2%.
Duchenne Muscular dystrophy inheritance
1/3000 male births. X linked recessive
Duchenne MD presentation
waddling gait, toe walking, ages 2-6, calf muscle pseudohypertropy, gowers sign, CPK elevated
Complications of Duchenne MD
respiratory failure, cardiomyopathy
Diagnosis of duchenne MD
muscle biopsy or gene test
Treatment of GBS
IVIG or plasmapheresis
Treatment of transverse myelitis
steroids
What is spasmus nutans?
Spasmus nutans is an acquired form of nystagmus that occurs in children typically within the first 2 years of life. It presents as a clinical triad of 1) nystagmus 2) head bobbing 3) torticollis. The current theory holds among researchers that head bobbing and torticollis are compensatory mechanisms that improve vision by reducing the frequency and asymmetry of the nystagmus. Nystagmus usually persists until age 5-12
What kind of nystagmus does phenytoin cause?
horizontal
What is a common associated disease in patients with myelomeningocele?
80-85% develop hydrocephalus in association with Type II Chiari defect
What is Klippel-Fiel syndrome?
Short neck, limited neck motion, low occipital hairline. Fused cervical vertebrae
Which drug is associated with agenesis of coprus collosum
maternal use of cocaine
What diseases is Moya Moya associated with?
Sickle cell? , NF1, trisomy 21, cranial radiation
What conditions are saccular aneurysms associated with?
Coarctation, polycystic kidney disease, Marfan or Ehlers danlos
What part of the brachial plexis is ERbs palsy associated with?
Upper plexus root. Absent biceps tendon, triceps is present
What part of the brachial plexus is Klumpke’s palsy associated with?
Lower C8-T1. Have more motor and sensory involvement. Can also have Horners syndrome is T1 nerve root involved. Poorer prognosis than with ERbs
Risk factors for CP in full term infants
Risk factors for CP in full-term infants include advanced maternal age, black race, and intrauterine growth retardation
Risk factors for repeated febrile seizure
younger age at the first febrile seizure, family history of febrile seizures, lower degree of fever at the time of seizure, and shorter time interval between the onset of fever and the first seizure.
Describe generalized seizure
involve both hemispheres of the brain, aprupt onset without aura, loss of consciousness bilateral motor activity with change in tone
Simple partial seizure
last 10-20sec. often have aura, focal, simple means they can still interact with environment, no LOC
Complex partial seizures
LOC, focal, automatisms and aura common. Usually due to limbic structures
What is black box warning on vigabatrin?
permanent vision loss
Lennox Gestualt syndrome
severe seizures, intellectual disability, and characteristic EEG pattern - bilateral, synchronous, sharp-wave and slow wave complexes. Many have history of infantile spasms
Rasmussen syndrome
immunologic process involving one side of the head, start with generalized seziures, but soon become focal, unremitting, limited to one side of the body. Deteriorates to a stable neurologic deficit
What are pathologic laughter seizures associated with?
hypothalamic hamartoma
which kind of seizures can you use valproate for?
generalized tonic-clonic, atypical absence, myotonic
ethosuximide side effects
skin rash, liver dysfunction, leukopenia
How long should kidney with idiopathic epilepsy who have been stable be on meds?
2 years seizure-free
What neuro deficits are noted in SMA
motor deficits, prox>distal, lower>upper. No sensory, facial or intellectual issues
type 1 SMA
Most severe, presents <6 months, most die by 2 from resp failure
Type 2 SMA
chronic; lost milestones at age 2, slowing progressive weakness
