Transcript Document 7330269

Pediatric Neurology Quick Talks
Ataxia
Michael Babcock
Summer 2013
Scenario
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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)
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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
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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
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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
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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 pastpointing
– Dysdiadochokinesia – can't rapidly switch/alternate movements –
leads to poor rhythm (hand/foot tapping), leads to poor rapid
alternating movements.
Cerebellum
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Midline – vermis
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Dysarthia
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Truncal titubation
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Gait abnormalities
Hemispheres
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Double-crossed
tracts, ipsilateral
findings
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Limb dysmetria
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Ipsilateral veering
while walking
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Tremor
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hypotonia
Abnormal Gait
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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.
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Causes of ataxia
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ACUTE
– Brain tumor
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– 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, ataxiatelangectasia, Roussy-Levy,
spinocerebellar ataxia,
episodic ataxias
– Neurodegenerative
• abetaliproteinemia, vitamin E
deficiency, Refsum,
Niemann-Pick,
Work-up for acute ataxia
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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
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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, infectious—meningitis, 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
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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
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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
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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/imagecollection/ataxia_telangiectasia_ear_picture/picture.htm
-maria, b. current management in child neurology.2009
-http://www.78steps.com/examination-sequence/arm-drift.html