Pediatric Neurology Quick Talks

Ataxia
Michael Babcock
Summer 2013
Scenario
2 yo girl
Acute onset of not walking every since waking this morning
Crying and trying to be carried
No fever
No recent witnessed trauma
No erythema, no pain with palpation of extremities
Hx of normal development, walking for 8 months.
Awake and alert, but fussy
Refusal to Walk (or abnormal gait/limp)
Infections septic arthritis, osteomyelitis, discitis, myositis
Inflammatory transient synovitis
Trauma toddler's fractures, foot fracture, child abuse, contusions/bruises
Bony deformity/problem slipped epiphysis, hip dysplasia, asceptic
necrosis (legg-calve-perthes), vaso-occlusive crisis, osteochondrosis,
tumors.
Abdominal pain appendicitis, PID, abscess
Neurologic weakness (muscular dystrophy, NMJ, GBS, TM), ataxia,
infections meningitis, spinal abscess.
Psychogenic - conversion
History
When was walking last normal; onset of symptoms?
Any trauma?
Vitals? Fever?
Any LOC or abnormal movements?
nausea/vertigo/posterior fossa symptoms?
Why is walking altered? - pain, weakness, numbness, imbalance, can't
say?
Neurologic Exam walk refusal/abnormal walk
MS
CN pupils, eye movements (abnormal movements, opsoclonus), CN 8
(ear exam, tinnitus, hearing loss) peripheral vestibular
neuropathy/labrynthitis
Motor strength weakness > myopathy/NMJ/peripheral nerve/UMN
Reflexes absent? -->GBS, increased?->UMN
Sensory uncommon reason in kids B12, tabes dorsalis, diabetic
peripheral neuropathy
Cerebellar Rapid alternating movements (finger-tapping/alligator
chomp, toe-tapping), Finger-nose-finger, heel-knee-shin, other rhythmic
movements-clapping, also listen to speech.
Gait romberg, tandem think of different abnormal gait types.
This lecture is on Ataxia
Children can present with wide-based, ataxic gait OR with refusal to walk
due to sense of imbalance.
Static ataxia present in resting state
Kinetic ataxia present only with movement
Dystaxia
Dysmetria can't control distance/speed/power leads to past-
pointing
Dysdiadochokinesia can't rapidly switch/alternate movements
leads to poor rhythm (hand/foot tapping), leads to poor rapid
alternating movements.
Cerebellum
Midline vermis
Dysarthia
Truncal titubation
Gait abnormalities
Hemispheres
Double-crossed
tracts, ipsilateral
findings
Limb dysmetria
Ipsilateral veering
while walking
Tremor
hypotonia
Abnormal Gait
Spastic gait
Sensory ataxic gait wide-based, high-stepping, romberg +
Cerebellar ataxic gait titubation, wide-based
LMN distal weakness, foot drop, high-stepping, but narrow-based
Myopathic proximal weakness, difficulty rising from chair, Gower's
Movement disorder gaits adventitial movements, lurching gait
Psychogenic Astasia-abasia wide variation with complex movements,
often wide movement off vertical axis without falling.
Romberg test
-Sensory ataxia
-Pt can stand with feet together
with eyes open, but not
eyes closed.
-Cerebellar ataxia
-Pt can not stand with feet
together even with eyes
open.
-Positive romberg imbalance with
eyes closed
-Testing for sensory ataxia.
Causes of ataxia
ACUTE
Brain tumor
Neuroblastoma
Head-trauma
Vertebrobasilar dissection/stroke
ADEM
Opsoclonus-Myoclonus-Ataxia
Acute Cerebellar Ataxia
GBS
Tick paralysis
Infections encephalitis,
cerebellar abscess, ccute
labrynthitis
Toxicities alcohol, lead, AED
Conversion reaction
Intermittent
Benign paroxysmal vertigo
Seizure
Inborn Error of Metabolism
Basilar migraine
Chronic
Congenital anomaly of posterior
fossa
Dandy-walker, chiari,
cerebellar dysplasias
Hereditary ataxias
Freidrich ataxia, ataxia-
telangectasia, Roussy-Levy,
spinocerebellar ataxia,
episodic ataxias
Neurodegenerative
abetaliproteinemia, vitamin E
deficiency, Refsum,
Niemann-Pick,
Work-up for acute ataxia
Head imaging if AMS, focal neurologic signs, cranial neuropathies,
marked asymmetric ataxia, trauma, other concerns for mass lesion
posterior fossa symptoms/ elevated ICP symptoms
MRI is best, especially for posterior fossa lesions, demyelinating
CT if concern for hydrocephalus, trauma, mass lesions, unstable
Labs UDS, alcohol level, BMP (glucose), CSF if concern for infection or
GBS. Metabolic evaluation for IEM if needed
Acute Cerebellar Ataxia
Age 2-5 yo
Preceded by febrile illness 4 days to 3 weeks
Symptoms acute, maximal at onset gait disturbance is most common, can also have
motor symptoms/fine tremor, dysarthria, 50% have nystagmus
Some with vomiting and headache in older children
Should NOT have fever, meningismus, seizure, AMS, focal neurologic signs,
insiduous onset
Differential toxic/metabolic, infectiousmeningitis, encephalitis, ADEM, labrynthitis,
structural, metabolic, neurodegenerative, episodic ataxic syndrome.
Work-up: CSF if fever, meningitic signs, AMS; imaging if trauma, ICP signs, posterior
fossa signs, asymetric focal findings, ADEM
Usually resolves within 2-3 weeks; if worsening or relapse than reconsider diagnosis
Tx sometimes steroids, IVIG in severe/refractory cases
10% will have some long-term effects, but most recover completely
older age and EBV associated with worse prognosis.
Opsoclonus-Myoclonus-Ataxia Syndrome
Dancing eyes dancing feet
Mean age 2 yo.
Opsoclonus uncontrolled, frequent, conjugate, saccidic movement of eyes in all
directions.
irritability, sleep problems
Auto-immune: Paraneoplastic neuroblastoma (unknown Ab); parainfectious
Differential: other causes of myoclonus, ataxia; toxic/metabolic dz, structural
Work-up Look for neuroblastoma CAP MRI, VMA/HVA, MIBG scan. If no
neuroblastoma, then MRI brain to look for structural, toxic/metabolic, med review,
infections viral (hep C, Lyme, EBV, HIV, coxsackie, rota, mycoplasma, GAS).
Tx - Treat movements with immunosuppression- steroids, IVIG, rituximab.
Freidrich Ataxia
AR
Most common hereditary ataxia 1:50,000 Caucasian
Frataxin gene 9q13 trinculeotide repeat
Affects brain, heart, pancreas. Slow onset and progressive.
Onset before age 25 (often by age 5), ataxia of all 4 limbs, cerebellar
dysarthria, absence of LE reflexes, pyramidal signs (weakness, extensor
plantars), optic atrophy, brainstem involvement (swallowing dysfunction),
early loss of position/vibration without pain/temperature loss,
sensineuronal hearing loss
Cardiomyopathy 66% of patients hypertrophic main cause of death is
arrhythmia and heart failure
Diabetes Mellitus 33% of patients

Ataxia-telangectasia
AR; ATM gene; 11q22.3
1:20-100,000
ATM gene involved in detecting DNA damage, plays role in cell cycle progression
Neurologic effects
Progressive cerebellar ataxia (earliest feature; children usual begin walking, then
have problems with fluid walking); articulation problems
abnormal eye movements oculmotor apraxia is earliest
Can also have dystonia, chorea, peripheral axonal neuropathy
Oculocutaneous telangectasias oculobulbar, nose, face, ear, neck. Appear age 3-5 yo.
Also can have cafe-au-lait macules.
Immune deficiency recurrent sinopulmonary infections
Pulmonary disease major cause of death recurrent infections, interstitial lung disease,
neuromuscular abnormalities (dysphagia, aspiration, resp muscle weakness)
Malignancy 10-20% will develop cancer.
PREP Question
A 4 year old boy presents to the emergency department with balance problems. He had been previously
healthy, but his walking has worsened progressively for the past 2 days, with staggering and lurching.
On PE, the boy is cooperative and alert. His muscles are not tender, and his joints are not red, swollen or
tender. His vision seems functionally normal, but there is end-gaze nystagmus in all directions. When sitting
independently, his head and trunk bob. His strength appears normal, and his reflexes are normal. When asked
to stand with his hands outstretched, a symmetric tremor is evident, and worsens as he approaches this
target on finger-to-nose testing. His gait is broad-based. A urine toxicology screen reveals normal results.
Brain magnetic resonance imaging shows no tumors or other gray or white matter lesions. Lumbar puncture
shows 3 WBCs, 2 RBCs, protein 20, glucose 50.


Of the following, you are MOST likely to advise the child's mother that:
A. Intravenous steroids significantly reduce recurrence risk
B. Neuroblastoma is a common cause of these symptoms
C. Repeat lumbar puncture is needed in 2 days
D. Symptoms may resolve in weeks to months
E. Symptoms usually resolve after antibiotic treatment
D. Symptoms may resolve in weeks to months
-Cerebellar ataxia
-Cerebellar findings on exam: Lateral end gaze nystagmus, dysmetria, ataxia,
titubation.
-Subacute onset with normal mental status suggests acute cerebellar ataxia
-Usually acquired after infection or immunization
-MRI shows lesion
-Regarding other choices:
A. Intravenous steroids significantly reduce recurrence risk: They don't
B. Neuroblastoma is a common cause of these symptoms: not as common
C. Repeat lumbar puncture is needed in 2 days: no new information
E. Symptoms usually resolve after antibiotic treatment: Not a primary infectious
process
References
-Uptodate articles
http://www.studyblue.com/notes/note/n/pnb-exam-3/deck/107773
http://www.medicinenet.com/image-
collection/ataxia_telangiectasia_ear_picture/picture.htm
-maria, b. current management in child neurology.2009
-http://www.78steps.com/examination-sequence/arm-drift.html