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Board Review – Neurology 1
Pragya Verma
PGY – 3
Morehouse School Of Medicine
Ataxia
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It is the inability to make smooth, accurate and coordinated movements.
The location is typically cerebellum and / or sensory pathways in the posterior columns of the
spinal cord.
Primarily affects the gait, but can be generalized as well.
Below are the common causes of Acute Ataxia
Trauma
Infectious
Metabolic
Malignancy
Toxic
• Hematoma
• Post
Concussion
• Cerebellar
Hemorrhage
• Kawasaki
Disease
• Acute Post
infectious
Cerebellar Ataxia
• Cerebellar
Abscess
• Acute
Labyrinthitis
•Encephalitis of
Brain Stem
• Multiple
Sclerosis
• Miller Fischer
Sundrome
• Hartnup Disease
• Maple Syrup Urine
Disease
• Pyruvate de hydrogenase
deficiency
• Neuro blastoma
• Tumors of the
cerebellum and
frontal lobe as
well.
• Phenytoin
• Alcohol
• Thallium
(Pesticide)
Content Spec – Know the common causes of Acute Ataxia
Ataxia
Chronic and Progressive Ataxia
Joubert Syndrome:
• Autosomal Recessive
• Agenesis of the Cerebellar Vermis
• Presents in infancy as hypotonia, delayed milestones, truncal ataxia and neonatal
breathing problems.
• Associated with the Molar Tooth Sign on MRI.
Arnold Chiari malformation and Dandi walker syndrome.
Ataxia
Chronic and Progressive Ataxia
Degenerative Diseases
Ataxia – Telangiectasia
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Autosomal Recessive Condition
Ataxia begins at the age of 2 years and progresses to loss of ambulation by
adolescence.
Associated with telangiectasia over the bridge of the nose and ears, reduced Ig A and
Ig G levels and increase frequency of Leukemia, Lymphomas.
Ataxia
Chronic and Progressive Ataxia
Friedreich Ataxia
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Autosomal Recessive
Onset is later than AT but usually before 10 years of age.
Explosive Dysarthric Speech and Nystagmus, Skeletal abnormalities and
Hypertrophic Cardiomyopathy.
Associated with more than 90 GAA repeat expansion in the Frataxin gene. Mutations
cause oxidative injury associated with increase iron deposits in the mitochondria.
Spinocerebellar Ataxia 1, 2, 3 and 7 area all autosomal dominant.
Ataxia
Evaluation of Ataxia should be systematic and the following points may be helpful
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Anatomical Localization : Is the problem at the level of the brain, brain stem, spinal
cord, ant horn cell, ant root, nerve, Neuromuscular Junction or the muscle?
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In Ataxia the symptoms will help us to evaluate if it is the cerebellum alone or it
involves other levels of the nervous system.
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Time course – Acute Vs Chronic and Static Vs Progressive over time.
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Identification of the inheritance pattern. Autosomal Recessive Vs Autosomal
Dominant. X inked or maternal Mitochondrial inheritance. Eg: Absence of the
autosomal dominant pattern reduces the likelihood of spino cerebellar ataxias.
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Identification of involvement of other body systems ie: Eye , Skin , Skeletal or Cardiac
findings
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Genetic testing can also be performed but Neurology consult can be less expensive
and lead to less lab/imaging evaluations.
Content Spec – Know the evaluation of Ataxia
Acute Cerebellar Ataxia
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An infectious cause for acute onset of Ataxia.
Occurs in children between 1-3 years of age.
Occurs 2 – 3 weeks after an exposure to a viral illness – varicella, coxsackie virus or
echovirus and is thought to be an auto immune type of process.
Truncal Ataxia and it can be so severe that the child is unable to stand or sit.
Horizontal nystagmus and dysarthria are present as well.
Importantly, fever, nuchal rigidity are absent. Vomiting may be present.
It is a diagnosis of exclusion and brain imaging and CSF analysis are normal. CSF
may show increasing protein on a repeat tap.
Most Importantly, the prognosis is excellent and ataxia begins to improve in a few
weeks. Recovery typically happens by 2 months.
No treatment is typically required. OT, PT may be helpful.
DDx – Acute Labyrinthitis – Associated with middle ear infections, intense vertigo,
vomiting and abnormalities in labyrinthine functions.
http://www.youtube.com/watch?v=5Dj827uCP3g
Content Spec – Know the prognosis of childhood Acute Cerebellar Ataxia
Vertigo
Vertigo is defined as any illusion or sensation of motion.
Younger children may express the dysequilibrium only by falling, stumbling or
clumsiness. Older children may describe a feeling of room spinning or turning.
Content Spec – Know the common causes of Vertigo
Question - 1
Question - 2
Transverse Myelitis
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Abrupt onset of progressive weakness and sensory disturbances in the lower
extremities.
• A history of fever and malaise is typically documented. The viruses implicated are
EBV, Herpes, Influenza, Rubella, Mumps, Varicella, HIV, Mycoplasma.
• TM can also occur with autoimmune diseases such as SLE, antiphospholipid
antibody syndrome, sarcoidosis, Sjogren syndrome, and mixed connective tissue
disease. Of patients presenting with TM, 5% to 10%develop multiple sclerosis.
• It is hypothesized that it is either a direct viral invasion, cell mediated auto immune
response or autoimmune vasculitis.
• Symptoms consist of motor , sensory symptoms depending on the level of the cord
involved. Typically they include –
Low Back Pain
Sensory – Paresthesias of the legs, Pain, Temp and Light Sensations are affected, A
sensory level is present in the mid-thoracic region. Joint position and vibration may be
preserved.
Motor – The leg muscles are weak and flaccid.
Sphincter disturbances are common.
Transverse Myelitis
WORK UP & TREATMENT OF
TM
TM
Acute treatment of TM
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High-dose pulse steroids (usually
1 g methylprednisolone IV for 5 d)
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Plasmapheresis may be used if
patients do not respond to
steroids.
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If TM occurs in association with
an underlying disease, other
specific
therapies
may
be
indicated.
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Acyclovir for HSV infection,
ganciclovir for CMV infection,
cyclophosphamide for SLE.
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Approximately 33% of
patients
recover with little or no sequelae,
33% suffer moderate permanent
disability, and 33% have virtually
no recovery and are left with
severe disability.
Spine MRI
Non
Compressive
Lesion
• CSF
• Viral PCR, Lyme Ab
• VDRL
• Mycoplasma Ab
• Oligoclonal Bands
Brain MRI with Gadolinium
Demyelinating lesions in
the brain - multiple
sclerosis
Compressive
Lesion
• Serological
• HIV
• Lyme titers
• Mycoplasma
• Hepatitis
• AutoimmuneANA, Rf, Anti DNA
.
Content Spec – Plan the evaluation in a patient in whom post infectious myelitis is suspected
• EMG
• Evoked
Potential
Transverse Myelitis
Acute Spinal Cord Lesion
Clinical Manifestations of Spinal Cord Injuries or Lesions(Infectious or Tumors)
• Severe cord Injury presents with spinal shock.
• Sensory – Loss of sensations below the level of the injury
• Motor – Muscle Weakness, Flaccidity, Loss of Reflexes.
• Sphincter weakness, loss of bowel and bladder control.
• Autonomic signs such as Hypotension and Bradycardia.
• Respiratory failure can occur due to high cervical spine lesions affecting the phrenic
nerve to diaphragm function.
• Recovery signs include Reflex Flexor activity followed by Reflex Extensor Activity
associated with Hyperactive Deep Tendon Reflexes, Spasticity and Automatic
Bladder.
• Mild Concussion of the cord will result in transient quadriparesis for seconds or
minutes with full recovery in 24 hours.
• Conus Medullaris Syndrome – Loss of Urinary and rectal sphincter, flaccid
weakness and sensory loss in the legs.
• Central Cord Lesion – Involves Upper extremities more than the Lower extremities.
• Anterior spinal artery stroke – Weakness in the lower ext and loss of pain and
temperature with preservation of vibratory and proprioceptive sensation.
Content Spec – Clinical manifestations of an acute spinal cord lesion, bladder An d bowel
dysfunction
Evaluation and Treatment
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Spinal Cord injury is a Neurological emergency.
The initial diagnostic emphasis should be directed toward localizing the proper level
of the nervous system: brain, brainstem/cerebellum, spinal cord, nerve, junction, or
muscle. Urgent phone or in-person consultation with a neurologist or neurosurgeon
can be useful before ordering testing.
The back pain, acute bilateral flaccid weakness, and sensory loss below the level of
the lesion localize the problem to the spinal cord.
Based on the history and examination findings, magnetic resonance imaging (MRI) of
the spine is the test of choice. This should aid in determining the specific location of
the lesion and whether emergency neurosurgery to decompress the spinal cord is
needed.
A subsequent lumbar puncture also may help identify the cause of the patient's
symptoms, but it may not be necessary and should not delay obtaining the spine
MRI. Lumbar puncture is also helpful for identifying inflammatory causes of spinal
cord disease.
Somato-sensory evoked potentials are neurophysiologic tests that document the
integrity of sensory pathways from peripheral nerves through the spinal cord to the
brain.
Content Spec – Neurodiagnostic evaluation of patient with acute spinal cord dysfunction
Down Syndrome and Neuro
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Susceptible to Atlanto – Axial Instability due to laxity of the transverse ligament.
Measurements of less than 5 mm are normal, 5 to 7 mm indicate instability, and more
than 7 mm are markedly abnormal according to AAP guidelines for DS.
Spinal cord compression may result with Sx of urinary and bowel incontinence,
weakness, spasticity, gait issues, and sensory loss.
Current Recommendations are lateral XR of the neck in neutral, flexion and extension
positions at 3- 5 years of age and at a later age if indicated as it can develop during
periods of growth.
However there is a lack of consensus - First, individuals who have DS and normal
findings on screening may have abnormal radiographic results later in childhood.
Conversely, some individuals whose study results initially are abnormal eventually
have normalized results.
Finally, several publications report that individuals who have DS and AAI and
symptoms or signs of cervical cord compression rarely present with rapid
decompensation.
Physical examination findings suggestive of spinal cord compression may be more
predictive of significant spinal cord injury than plain radiographs, and it is wise for all
individuals who have DS to undergo a careful neurologic examination prior to sports
participation.
Content Spec – Atlanto axial in Down Sundrome and Neurological Complications
Thank You