Pediatric Movement Disorders Flashcards
Abnormal paroxysmal movements should cause you to consider what problem?
What 4 things would lead you to think this as opposed to run of the mill movement disorder?
Consider Seizures
- Should see LOC
- EEG changes
- Possible worsening with sleep
- Less frequent than run of the mill movement disorder
What are the 5 types of childhood movement disorders?
- Chorea
- Athetosis
- Dystonia
- Dyskinesia
- Tics (motor, vocal)
What is Athetosis?
With what disease is this abnormal movement associated?
What two areas of the body are typically affected?
Abnormal muscle contractions that cause writing movements; frequent, brief, unpredictable–flow from one body part to another
Typically affect patients with CP
Will cause abnormal face and hand movements
Define opsiclonus?
“dancing eyes” –irregular bouncing movement of the eyelids
What are the four types of ataxia?
- Ocular
- Truncal
- Appendicular
- Gait
What is the triad for paraneoplastic syndrome associated with neuroblastoma?
- Opsiclonus
- Ataxia
- Myoclonus
**Kids are often irritable or encephalopathic
How do we diagnose neuroblastoma? (3)
- Nucleotide scan
- Urinalysis (VMA, HVA)
- CT scan** (most important)
How do we treat neuroblastoma? (3)
- IVIG
- ACTH
- Tumor removal if one is found
What are the common clinical findings for Familial Episodic Cerebellar Ataxia (2)?
How many variants of this disease exist?
What is the etiology of this disease?
- Dysmmetria
- Dystaticokinsia
There are two types of familial episodic cerebellar ataxia; they are channelopathies
What is one common finding in family hx of patients with familial episodic cerebellar ataxia?
Hemiplegic migraines
How do we treat familial episodic cerebellar ataxia?
Acetazolamide; has similar ADR profile to topirimate–causes metallic taste to soda
When a patient presents with unexplained chorea or athetosis, what are 4 important things to ask?
- Birth hx
- Congenital disease (heart esp.)
- Recent infection
- Stimulant med use
What are three PE tests to assess chorea or athetosis?
- Piano playing (fingers in hand)
- Milkmaid grip
- Chameleon tongue
List 8 disease presentations associated with Chorea or Athetosis:
- Juvenile onset Huntington Disease
- Sydenham’s Chorea
- Post-Pump chorea (following cardio surg.)
- CP
- Kernicterus
- Infection +/- ADEM
- Metabolic disorders
- SLE, hyperthyroidism
What is the most common cause of chorea in childhood?
Acute Rheumatic Fever (ARF)–> Sydenham’s chorea
What is the most common age range for Sydenham’s Chorea to occur?
What is the sex distribution?
What causes it?
- Ages 5-15 yoa
- 2:1 F/M ratio
Occurs avg 4 mos after GAS infection–> ARF (JONES)
How does Sydenham’s Chorea present?
What might you see on imaging?
Gradual progressive emotional lability (may begin with school difficulties) –> Choreiform movements–> waxes and wanes for mos w complete resolution
May have T2 increased signal in putamen and GP; will resolve when chorea recovers
What are the antibodies implicated in Sydenham’s chorea (2)
- ASO
- AntiDNAse B
What are treatments for Sydenham’s Chorea? (6)
- DA antagonists (Pimozide, Haloperidol)
- Antiepileptics (Carbamazepine, Valproate)
- BDZs
- Corticosteroids
- IVIG
- Penicillin
List 3 examples of secondary dystonia:
- CP
- Post trauma or stroke
- Toxin induced
What are the three types of dystonias– i.e. how might dystonia present in three ways?
- focal
- segmental
- multifocal
**Note that it may fluctuate in severity over time
What two things may stop dystonia?
- Sleep: NEVER PRESENT DURING SLEEP
- “Geste antagoniste”: suppressed by touch of a certain body part
What two things may worsen dystonia?
- Certain body movements
- Stress/ excitement/ pain
What is the most common primary dystonia of childhood?
How does it initially present and how is it treated?
Dopa-responsive dystonia
- Initially presents with foot dystonia
- Treated well with low dose levodopa
Which mutation is associated with Idiopathic Generalized Torsion Dystonia? What is the inheritance pattern?
How does the disease initially present? How long does it take to generalize?
- (AD) DYT1 mutation
- Begins in lower extremity
- Generalizes within 5 years
Gluteric Acidemia Type 1:
What is the deficient enzyme?
What three aa’s can’t be made?
What is one hallmark feature, and at what age does chorea present?
How do we treat it?
- (AR) Glutaryl-CoA Dehydrogenase
- Lysine, Hydroxylysine, Tryptophan
- Presents with macrocephaly at birth, and chorea onset by 1 yoa
- Treat with carnitine supplementation
Wilson’s Disease:
Which gene and inheritance pattern?
What is the problem?
How does the disease manifest (5)?
- (AR) Chromosome 13
- Defective Cu transporter
Presentation:
- Dysarthria
- Dystonia (risus sardonicus)
- Rigidity
- Gait disturbance
- Tremor
Dystonia and spasticity often occur in the same affected limb; what is the difference between the two?
What makes them both worse?
What is common amongst all affected muscles?
Dystonia: action–can’t completely relax muscle
Spasticity: felt at rest–velocity dependent tone
Both are worse with stress, excitement, pain
Affected muscles are all WEAK
List three drug classes used to treat spasticity:
- Muscle relaxants (baclofen, tizanidine) **May surgically implant intrathecally
- Anticholinergic (trihexylphenidyl)
- BDZs
Why does DBS not work for spasticity?
Circuit for “action” is interrupted; therefore it can only be used to treat dystonia
DA antagonists (antipsychotic and anti nausea meds) can cause what 4 movement disorders?
- Acute dystonic reaction
- Tardive Dyskinesia
- Parkinsonism
- Neuroleptic malignant syndrome
What are the three types of acute dystonic reaction to DA agonists?
What is the treatment?
Oculogyric crisis, torticollis, axial dystonia
Tx with IV Benadryl or Benztropine
Tics:
What constitutes transient vs. chronic?
What is required for Tourette’s Syndrome dx?
Transient tics last less than 1 year; chronic are more than 1 year
Tourettes dx must be under 18 yoa w/ both chronic vocal and motor tics
Tics usually begin by what age?
Which come first: motor or vocal?
What is one hallmark feature of tics in general?
What is the best treatment?
Begin by 6yoa–> worse by 10 yoa–> Lessen by 18 yoa
Motor tics usually happen first
**Tics change over time
Treat comorbidities first,–CBT and alpha 2 adrenergic blocker (clonidine) (if no comorbidities)
How do stereotypic movements differ from tics? (2)
What is the best treatment?
Repetitive purposeless movements that DO NOT change over time; may or may not be involuntary
Treat with SSRI, especially for anxiety
PANDAS:
What does this mean?
How does it present and at what age?
Pediatric Autoimmune Neuropsychiatric Disorders Assocated with Strep (GAS)
Presents following GAS infection w/ pre-pubertal tics and OCD exacerbations; course is episodic
Do ABX help tic exacerbations associated with GAS infection?
No; treat with ABX to prevent rheumatic fever only
What is Hartnup Disease?
Inheritance pattern and chromosome?
What problems does it cause?
How do we treat it?
AR, chromosome 5
Defective aa transporter in kidney–> Vit B3 deficiency–> Pellagra, Developmental delay, paroxysmal limb ataxia
Treat with high protein diet
What is Maple Syrup Urine Disease?
Inheritance pattern and problem?
How and at what age does it present?
What makes it worse?
How do we treat?
AR defective branched chain aa metabolism
Presents by 2 yoa with maple syrup smelling turing and paroxysmal ataxia, lethargy, irritability
Treat by restricting protein and giving thiamine supplements
What is defective in Pyruvate Dehydrogenase Deficiency?
How does this disease present?
How do we treat it (2)?
E1 component of PDH complex defective–> ^ lactate, ^ pyruvate–> paroxysmal ataxia and lethargy
Treat with acetazolamide and ketogenic diet
Episodic Ataxia Type 1:
Mutant gene?
Duration of attacks?
Treatment? (3)
- KCNA1 channel (K+)
- Brief attacks of ataxia
- Phenytoin, carbamazepine, acetazolamide
Episodic Ataxia Type 2:
Mutant gene?
Duration of attacks?
Treatment (2)?
- CACNA1A channel (Ca++ )
- Day-long attacks of ataxia
- Acetazolamide and flunarizine
For each type of ataxia, site the location of the lesion?
- Truncal
- Limbs
- Eyes
- Cerebellar vermis
- Hemispheres
- Brainstem
Infections that can cause ataxia (4)
Varicella
HSV
EVB
Mumps
Heavy metal poisons that can cause ataxia (3)
Mercury
Lead
Thallium
Three brain tumors that can cause ataxia w poor prognosis:
Meduloblastoma
Ependymoma
Pilocytic astrocytoma
Three disease states that can cause vertigo
- acoustic neuroma
- posterior fossa tumor
- demyelinating disease
Features of peripheral vertigo (4):
- episodic
- unidirectional
- +/- hearing loss
**no other neuro sx
Features of central vertigo (4):
- constant
- spinning direction varies
- NO HEARING LOSS OR TINNITUS
- CN deficit/ cerebellar disease present
