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3 year old boy with
acute abnormal movements
poor sleep
Mitra Afshari, PGY3
Northwestern University
Chicago, IL
Patient
3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep
HPI
Abnormal 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 videotaping 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
Differential Dx
Investigations
Patient
3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep
Phenomenology
rhythmic
clonic activity?
Patterned
focal activity
sustained OR
intermittent
muscle
contractions?
no loss of
awareness?
oscillating?
purposeful but
purposeless?
+posturing?
worse w/
voluntary
action?
Dystonia
Simple partial
seizures
Tremor
Stereotypy
w/voluntary
action?
antigravity
only?
Kinetic
tremor
Postural
tremor
+dystonia?
positionspecific?
Dystonic
tremor
Patient
3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep
Phenomenology
Differential Dx
rhythmic
clonic activity?
Patterned
focal activity
sustained OR
intermittent
muscle
contractions?
no loss of
awareness?
oscillating?
purposeful but
purposeless?
+posturing?
worse w/
voluntary
action?
Simple partial
seizures
Tremor
w/voluntary
action?
1° Motor
Stereotypy
Structural
lesion
Dystonia
Dopa-Responsive
Dystonia
1°
Generalized
Dystonia
2° Dystonia
focal exam?
antigravity
only?
Kinetic
tremor
Postural
tremor
+dystonia?
positionspecific?
Dystonic
tremor
Structural
lesion
Patient
3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep
Phenomenology
Differential Dx
rhythmic
clonic activity?
Patterned
focal activity
sustained OR
intermittent
muscle
contractions?
no loss of
awareness?
oscillating?
purposeful but
purposeless?
+posturing?
worse w/
voluntary
action?
Simple partial
seizures
Tremor
w/voluntary
action?
1° Motor
Stereotypy
Structural
lesion
antigravity
only?
Kinetic
tremor
Postural
tremor
positionspecific?
Dopa-Responsive
Dystonia
2° Dystonia
Structural
lesion
+dystonia?
Dystonia
1°
Generalized
Dystonia
focal exam?
sleep disturbance?
neuropsychiatric sx?
seizures?
Dystonic
tremor
Autoimmune
Encephalitis
Patient
3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep
Phenomenology
rhythmic
clonic activity?
Patterned
focal activity
sustained OR
intermittent
muscle
contractions?
no loss of
awareness?
oscillating?
purposeful but
purposeless?
+posturing?
worse w/
voluntary
action?
Investigations
Differential Dx
Simple partial
seizures
Tremor
w/voluntary
action?
1° Motor
Stereotypy
Structural
lesion
antigravity
only?
Kinetic
tremor
Postural
tremor
positionspecific?
Dopa-Responsive
Dystonia
2° Dystonia
Structural
lesion
+dystonia?
Dystonia
1°
Generalized
Dystonia
focal exam?
sleep disturbance?
neuropsychiatric sx?
seizures?
Dystonic
tremor
Autoimmune
Encephalitis
CSF
MR Brain
EEG
Patient
3 yo previously healthy boy w/2-wk h/o multifocal abnl movements and poor sleep
Investigations
4.7 \ 12.6 / 300
-----------/
\
Diff Ab lymphs 2.3 L
136 | 100 | 10 /
------------------------ 125
3.7 | 22.9 | 0.34 \
MRB
- Prominent flow-void
traversing the R.cerebellar
hemisphere w/2 adjacent
foci of gradient
susceptibility, c/w a
developmental venous
anomaly w/an associated
small cavernous
malformation
- Otherwise unremarkable
CSF:
EEG
WBC <1
- Bitemporal independent
64% lymphs, 36% monos
sharp waves and rarely
RBC <1
spikes, intermixed w/brief
Protein 13
runs of rhythmic theta
Glucose 91
activity
GS/Cx neg
- Episodes of intermittent
HSV 1&2 neg
L.hand dystonia w/o EEG
correlate
- Disturbance of normal sleep
overnight, with resumption
of sleep in the morning
hours
Additional Studies
Serum & CSF IgG
ANNA-1, -2, -3
AGNA-1, PCA-1, -2, -Tr
Amphiphysin
CRMP
 NEGATIVE
Serum Ab
Striational striated muscle
N-Type Ca Channel
AChR Ganglionic Neuronal
AChR Muscle Binding
P/Q-Type Ca Channel
Neuronal VGK Channel
 NEGATIVE
Serum Anti-thyroglobulin Ab
 NEGATIVE
Serum & CSF NMDA Ab
 NEGATIVE
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
Recent Literature
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/jnnp2012-303807. 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