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Case ConferenceCase ConferenceRuth C. Rubio, MDNovember 25, 2009
Case PresentationCase PresentationChief Complaint:
“I can’t control the muscles in my arms.”
HPI:HPI:11-year old male c/o brief
episodes of spastic movement of arms, exacerbated by running and other activities.
When he gets up suddenly or when he’s running, his arms flex and move around slowly similar to a snake.
Eyes also move funny but legs are not involved.
HPI:HPI:Usually lasts ~4 seconds.Started around a year ago but
becoming more frequent. When he thinks about the
movements, they were more likely to occur.
No altered sensorium.No other symptoms.
ROS:ROS:(+) occasional headaches(-) fever, staring spells, visual
problems(-) cough, DOB, rhinorrhea,
otorrhea(-) conjunctivitis, drooling(-) diarrhea, constipation(-) changes in UO(-) cyanosis
PMHPMHAllergic Rhinitis - on Nasonex
Mild Persistent Asthma – no ICU, no ETT, no hospitalizations, on Flovent, Claritin, Albuterol prn
Allergies: dust mites, pollen, roaches
Birth HistoryBirth HistoryBorn FT, NSVD, BW 8 lbs ½
ouncesNo complicationsUnremarkable nursery courseNegative prenatal labs/maternal
serologies
DevelopmentalDevelopmentalIn 6th grade, PS 59 Student
CouncilPlays basketball Likes Irish dancing
ImmunizationImmunizationIUTD as per mom
Social HistoryLives with momGoes to his father every weekend
Family HistoryFamily History
(+) Epilepsy – maternal great uncle
(+) ANA - mom with similar movements – started at 12 y/o, worse when dancing
Physical ExamPhysical ExamVS: WNL, alert, awake, activeNo dysmorphic features/neurocutaneous stigmata(+) bilateral nasal congestionNeuro exam: fluent, alert, interactiveCN II-XII – intact Motor – full and symmetric strength, no atrophyCerebellar – no ataxia/dysmetriaReflexes – 2+, no clonus, no BabinskiSensation – intactGait – normal Tone - normal
Labs:Labs:CBC: 8.5\13.6 / 208 /39.1\ N 43 L 36.7CMP: 139|103| 16 /63 4 | 27 | 0.6 \9.4
4.3 | 19 | 0.5 6.9 | 26 | 380U/A: WNL
LabsLabsESR – 4ANA – negativeTSH – 2.7T4 – 6.9Ceruloplasmin – 31
ImagingImagingMRI - normal
EEG - normal
OutlineOutline
I. Definition of TermsII. Review (motor systems)III. Movement DisordersIV. Case DiagnosisV. Case DiscussionVI. Videos
Definition of TermsDefinition of Terms1. Athetosis - slow writhing motions
of the arms and hands that appear to flow into one another
2. Chorea – combination of jerky, arrhythmic, "dancelike" movements that may involve the whole body
3. Ataxia - lack of coordination while performing voluntary movements
Definition of TermsDefinition of Terms
4. Dystonia - increased muscle tone with repetitive, twisting, patterned movements and distorted posturing
5. Ballismus - uncontrollable flinging movements of an arm, a leg, or both
Motor SystemsMotor Systems
Cortex
Cerebellum and the basal ganglia
Brainstem
Spinal cord
Muscles
"Movement disorders are frequently misdiagnosed because there is not enough awareness of the differences in the disorders."
- Dr. Albright
Pediatric Movement Pediatric Movement Disorders Disorders Ataxia
inability to make smooth, accurate, and coordinated movements, often due to disease of the cerebellum.
Bradykinesiaextreme slowness and stiffness of movement, often due to parkinsonian syndromes.
Pediatric Movement Pediatric Movement DisordersDisordersChorea and Choreoathetosis
syndrome of continuous random movements that usually occur at rest and may appear to be fidgety, dancing, or writhing.
Dystoniaabnormal muscle contractions that lead to twisting, jerking, spasms, or stiffening at rest or during attempts at movement.
Pediatric Movement Pediatric Movement DisordersDisordersSpasticity
an increase in muscle stiffness, worsens w/ rapid movement and may be a/w increased reflexes and weakness, often d/t cerebral palsy.
Ticsrepetitive, stereotyped, and sometimes complex involuntary movements or sounds that may appear similar to purposeful actions.
Pediatric Movement Pediatric Movement DisordersDisordersMyoclonus
a condition of very rapid and brief shock-like jerks.
Psychogenic Disordersspan the full range of possible symptoms, including tremor, dystonia, ataxia, bradykinesia, and chorea.
TremorTremor is a rhythmic back-and-forth shaking at rest or with movement.
Back to the CaseBack to the Case
What’s the diagnosis?
Familial Paroxysmal Kinesigenic Dyskinesia
ParoxysmalParoxysmal Dyskinesias Dyskinesias Paroxysmal - abnormal
movements are sudden and unpredictable, with a relatively rapid return to normal motor function and behavior
Hyperkinesias - sudden episodes of abnormal involuntary movements
ClassificationClassification
1. Paroxysmal kinesigenic dyskinesia (PKD)
2. Paroxysmal non-kinesigenic dyskinesia (PNKD)
3. Paroxysmal exertion-induced dyskinesia
4. Paroxysmal hypnogenic dyskinesia
Paroxysmal Kinesigenic Paroxysmal Kinesigenic Dyskinesia (Dyskinesia (PKD)PKD)Age of onset: typically in
childhood and adolescence, but ranges from four months to 57 years
Male predominance associated with infantile, but not
adult-onset seizures.
Paroxysmal Kinesigenic Paroxysmal Kinesigenic Dyskinesia (Dyskinesia (PKD)PKD)unilateral or bilateral involuntary
movements precipitated by other sudden
movements such as standing up from a sitting position, being startled, or changes in velocity
attacks include combinations of dystonia, choreoathetosis, and ballism
Paroxysmal Kinesigenic Paroxysmal Kinesigenic Dyskinesia (PKD)Dyskinesia (PKD)Sometimes preceded by an auraNo loss of consciousness. Can be as frequent as 100/day to
as few as 1/month. Usually a few seconds to 5
minutes in duration but can last several hours.
GeneticsGeneticsAutosomal dominant with
incomplete penetranceLocalized to chromosome 2q and
chromosome 16cen PKC and episodic ataxia type 1
with mutations of the KCNA1 gene. PKC and infantile convulsions
linked to chromosome 16cen near ion channel genes
Genetic CounselingGenetic Counseling
Risk to Family Members:Parents of a proband - > 90% of
individuals w/ an affected parentSibs of a probanddepends on the status of the
parents.f (+), risk is 50%.Asymptomatic carrierRisk is 50%
DiagnosisDiagnosisbased on the clinical findings of
attacks of dystonia, chorea, ballismus, or athetosis triggered by sudden movements that occur many times per day and can be prevented or reduced in frequency by phenytoin or carbamezepine.
EvaluationEvaluationEEGMRI
TreatmentTreatmentPhenytoin or Carbamezepine Oxcarbazepine, Ethosuximide,
Lamotrigine and Gabapentin* Lower dose than usual anti-
epileptic range, same side effects
Paroxysmal Paroxysmal Nonkinesigenic Nonkinesigenic Dyskinesia (PNKD)Dyskinesia (PNKD)nonkinesigenic - not triggered by
sudden movement1 in 5 million peopleAutosomal dominantMutations in the PNKD gene
(function of the protein is unknown)
Paroxysmal Paroxysmal Nonkinesigenic Nonkinesigenic Dyskinesia (PNKD)Dyskinesia (PNKD)NOT induced by exercise or
sudden movement and do not occur during sleep
develop without a known cause brought on by alcohol, caffeine,
stress, fatigue, menses, or excitement
Paroxysmal Paroxysmal Nonkinesigenic Nonkinesigenic Dyskinesia (PNKD)Dyskinesia (PNKD)PNKD gene - similar to a protein
that helps break down a chemical called methylglyoxal (found in alcoholic beverages, coffee, tea, and cola)
Research has demonstrated that this chemical has a toxic effect on neurons
Paroxysmal exercise-induced Paroxysmal exercise-induced dystonia (PED) dystonia (PED) Rare genetic disorderEpisodes of dystonia mostly
affecting the feet induced by continuous exercise like walking or running.
Pathophysiology is unknownAntiepileptic drugs are generally
unhelpful
Paroxysmal nocturnal Paroxysmal nocturnal dyskinesia dyskinesia May be a form of frontal lobe
epilepsyMay be familial with AD inheritanceOccurs while asleepMutations of the neuronal nicotinic
acetylcholine receptor gene (chromosome 20q and15)
clinically & genetically heterogeneous
ConclusionConclusionNo single set of tests is appropriate
for every child. Some children require extensive
testing, while others may receive a diagnosis after a single clinic visit.
Consult a neurologist to avoid unnecessary, expensive, confusing tests.
Consult other subspecialists as needed.