3 year old boy with acute abnormal movements

poor sleep

Mitra Afshari, PGY3Northwestern University

Chicago, IL

HPIAbnormal Movements•During play and performing tasks, arm will suddenly stop, hand will become somewhat twisted so he is unable to move it the way he desires, it will then shake, and finally correct itself and he will continue playing.•Less frequently, one of his legs will lift up while walking, forcing him to balance on one foot. •All movements last < 10 seconds, becoming more frequent, occurring at least every few hours.•Increasingly holding his RUE away from body and his R.hand in a fist when not performing tasks. •Awake, alert, and aware of these episodes, no eye or head deviation, even becomes self-conscious when family is video-taping him and attempts to compensate with the other hand. Paroxysmal Events•Sudden fearful screaming while awake where he will run to his bed or a corner, cover himself up, and at times scream “no” and “don’t hurt me.”Disturbed Sleep•Only sleeps about 2 hours at a time, wakes up to play, and then returns to sleep, most of sleep occurring in the afternoon rather than at night.

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

PMHx•Birth history: born term, vaginal delivery, no complications•Hospitalizations: none•Development: normal•Immunizations: up to date, just no flu shot this year

Medications•None

Allergies•None

FHx•Seizures: maternal uncle with one childhood febrile seizure•Movement Disorders: none•Developmental Delay/Learning Disorders: none•Autoimmune: paternal grand uncle with juvenile arthritis•Cardiac/Hepatic/Renal: none•Miscarriages: Mother had 3 miscarriages, all <12 wks •Unexpected/Unexplained deaths: none

SHx•Lives with both parents, only child, regular diet

PEX•VS: Afebrile, 100s/50s, 100s, 18, 99-100%•General: appears well, running around room•MS: interactive, answers questions, says “I love candy,” follows commands, identifies Thomas the Engine•CNs: PERRL, EOMI, no nystagmus, VFs intact, smile symmetric, palate/tongue midline, hearing intact, •Motor: nl bulk and tone, moves all extremities spontaneously, able to climb himself up onto bed, jumps•Sensation: intact to LT•Reflexes: 2+ throughout, 2 beats of clonus bilat, toes downgoing •Coordination: nl gait, reaches for toys w/both hands, when reached to high-5, his R.hand stopped midway

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

VIDEO

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Phenomenology

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Differential Dx Investigations

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Phenomenology

Patterned focal activity

rhythmic clonic activity?

no loss of awareness?

Simple partial seizures

oscillating? Tremor

w/voluntary action? Kinetic

tremorantigravity only?

Postural tremor

+dystonia?

position-specific?

Dystonic tremor

sustained OR intermittent

muscle contractions?

worse w/voluntary

action?

+posturing?

Dystonia

purposeful but purposeless?

Stereotypy

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Phenomenology

Patterned focal activity

rhythmic clonic activity?

no loss of awareness?

Simple partial seizures

oscillating? Tremor

w/voluntary action? Kinetic

tremorantigravity only?

Postural tremor

+dystonia?

position-specific?

Dystonic tremor

sustained OR intermittent

muscle contractions?

worse w/voluntary

action?

+posturing?

Dystonia

purposeful but purposeless? 1° Motor

Stereotypy

focal exam? Structurallesion

1° Generalized Dystonia 2° Dystonia

Dopa-ResponsiveDystonia

Structurallesion

Differential Dx

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Phenomenology

Patterned focal activity

rhythmic clonic activity?

no loss of awareness?

Simple partial seizures

oscillating? Tremor

w/voluntary action? Kinetic

tremorantigravity only?

Postural tremor

+dystonia?

position-specific?

Dystonic tremor

sustained OR intermittent

muscle contractions?

worse w/voluntary

action?

+posturing?

Dystonia

purposeful but purposeless? 1° Motor

Stereotypy

focal exam? Structurallesion

1° Generalized Dystonia 2° Dystonia

Dopa-ResponsiveDystonia

Structurallesion

Differential Dx

sleep disturbance?

neuropsychiatric sx?seizures?

AutoimmuneEncephalitis

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Phenomenology

Patterned focal activity

rhythmic clonic activity?

no loss of awareness?

Simple partial seizures

oscillating? Tremor

w/voluntary action? Kinetic

tremorantigravity only?

Postural tremor

+dystonia?

position-specific?

Dystonic tremor

sustained OR intermittent

muscle contractions?

worse w/voluntary

action?

+posturing?

Dystonia

purposeful but purposeless? 1° Motor

Stereotypy

focal exam? Structurallesion

1° Generalized Dystonia 2° Dystonia

Dopa-ResponsiveDystonia

Structurallesion

Differential Dx Investigations

CSFMR Brain

EEG

sleep disturbance?

neuropsychiatric sx?seizures?

AutoimmuneEncephalitis

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Diagnosis

Presumed Autoimmune Encephalitis Manifesting as a Movement Disorder

-Hospital course c/b sinus bradycardia w/marked sinus arrhythmia, HRs to the 50s w/isolated PACs, EKG and TTE unremarkable, Cardiology consulted and requiring follow-up-Pt received 2 days of IVIG with some improvement of his sleep-wake cycle-Pt received 3 days of Solumedrol and was sent home on a 4-wk Prednisone taper -All serum and CSF autoantibodies negative so far, including NMDA studies

Patient 3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens. J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):748-55. doi: 10.1136/jnnp-2012-303807. Epub 2012 Nov 22.

Hacohen Y1, Wright S, Waters P, Agrawal S, Carr L, Cross H, De Sousa C, Devile C, Fallon P, Gupta R, Hedderly T, Hughes E, Kerr T, Lascelles K, Lin JP, Philip S, Pohl K, Prabahkar P, Smith M, Williams R, Clarke A, Hemingway C, Wassmer E, Vincent A, Lim MJ.

No significant clinical differences in the Ab-positive and Ab-negative groups

Both groups response to immunotherapy with improvement in the Modified Rankin Scores at follow-up, and complete recovery in about half of patients

Therefore, the lack of identification of a known antibody does not exclude the diagnosis and immunotherapy should still be considered

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