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.