Journal http://jcn.sagepub.

com/
of Child Neurology

Clinical Imitators of Infantile Spasms

Jane F. Donat and Francis S. Wright
J Child Neurol 1992 7: 395
DOI: 10.1177/088307389200700412

The online version of this article can be found at:

http://jcn.sagepub.com/content/7/4/395

Published by:

http://www.sagepublications.com

Additional services and information for Journal of Child Neurology can be found at:

Email Alerts: http://jcn.sagepub.com/cgi/alerts

Subscriptions: http://jcn.sagepub.com/subscriptions

Reprints: http://www.sagepub.com/journalsReprints.nav

Permissions: http://www.sagepub.com/journalsPermissions.nav

Citations: http://jcn.sagepub.com/content/7/4/395.refs.html

>> Version of Record - Oct 1, 1992

What is This?

Downloaded from jcn.sagepub.com at UNIV TORONTO on November 18, 2012

Clinical Imitators of
Infantile Spasms
Jane F. Donat, MD; Francis S. Wright, MD

Abstract
We report 53 infants who by clinical history were thought to have infantile spasms but who
video-electroencephalograms
showed were having other episodes that closely mimicked infantile spasms. Nine patients had other types of seizures.
Forty-five patients had episodic symptoms that were not seizures: 11 patients had spasticity, four had gastroesophageal
reflux, and the other patients had nonepileptic myoclonus, including 19 patients with benign neonatal sleep myoclonus.
Three patients had more than one type of symptom. Infantile spasms imitators occurred in neurologically normal or ab-
normal infants, in patients with normal or abnormal interictal electroencephalograms, and in patients who also had pre-
vious or current infantile spasms. Differentiation of these episodes from infantile spasms prevented the initiation or
continuation of anticonvulsant treatment appropriate for infantile spasms but inappropriate for these other behaviors. (
J
Child Neurol 1992;7:395-399).

are a particularly serious form
Infantile
of
spasms
epilepsy. They have a very high association
with underlying brain disease and mental retarda-
tion.’ Once a diagnosis of infantile spasms has been
made, a comprehensive search for underlying met-
abolic or structural brain disease is usually neces-
sary, and this is often expensive and time
consuming. Treatment of infantile spasms requires
intensive management with potentially toxic treat-
ments such as adrenocorticotropic hormone (ACTH)
or valproic acid. Infantile spasms are uncommon,
with incidence estimated at
one per 4000 to 6000 live
births.2 However, making an accurate diagnosis of
infantile spasms is of disproportionate importance
because of the serious diagnostic and prognostic
implications. In order to make an accurate diagnosis
when patients are referred to us because of possible
infantile spasms, we try to record the suspect epi-
sodes on video-electroencephalograms (EEGs). We
evaluated 53 infants who on intensive video-EEG
monitoring did not have infantile spasms. This
Received Oct 18, 1991. Received revised Feb 11, 1992. Ac-
cepted for publication Feb 13, 1992.
From the Department of Pediatrics, Children’s Hospital,
Ohio State University School of Medicine, Columbus, OH.
’1’his paper was presented at the annual meeting of the
American Epilepsy Society, San Diego, CA, November 13, 1990.
An abstract was published in Epilepsia 1990;31:647.
Address correspondence to Dr Jane Donat, Children’s Hos-
pital, 700 Children’s Drive, Columbus, OH 43205.
report describes this patient population and their
episodes, which looked very much like infantile
spasms.
Patients and Methods
We included all infants who were evaluated in the EEG
laboratory at Children’s Hospital because of a suspected
clinical diagnosis of infantile spasms and whose episodes
were recorded during video-EEG evaluations but whose
episodes were not infantile spasms. The infants were eval-
uated between May 1986 and October 1990 and were re-
ferred by their pediatricians or pediatric neurologists.
Children’s Hospital is the primary referral center for the
central Ohio area.
All infants had routine length (1- to 2-hour) video-
EEGs. Twenty-one channel Nihon-Kohden EEG machines
and recording standards of the American EEG Society were
used.’ The clinical episodes were recorded on 1/z-inch VHS
videotape that was synchronized with the EEG recording.
Additional recordings were performed in 19 infants, in-
cluding two who had 2 to 4 additional hours of similar
video-EEG recording in the laboratory and 17 who had 24-
hour 16-channel video-EEG cable telemetry recordings
(Telefactor Corp, Conshohocken, PA). All symptoms were
identified by the infants’ parents or usual caretakers by us-
ing a microphone or event marker or by writing the time
on an event log.
We defined infantile spasms by accepted clinical and
EEG criteria: brief, jerklike generalized body and extremity
movements in flexion or extension, usually occurring in se-
ries, each of which is associated with a characteristic ictal
EEG change (a generalized sharp or slow wave or decre-
ment of the cerebral activity).1-4

395

Downloaded from jcn.sagepub.com at UNIV TORONTO on November 18, 2012

Results
We identified 53 infants who had episodic symp-
toms that clinically mimicked infantile spasms. Nine
patients had myoclonic seizures. Forty-five patients
had nonepileptic symptoms, including 29 patients
who had nonepileptic myoclonus and 17 patients
who had other motor symptoms. Three patients had
more than one type of episode.
Mean age was 6 months, with age ranging from
1 to 24 months. (Ages were corrected for prematu-
rity, so that 1 month old means 44 weeks postcon-
ceptional age. There were eight premature infants,
whose gestational ages ranged between 27 and 36
weeks.) There were 36 boys and 17 girls.
Twenty-one of these 53 patients also had infan-
tile spasms. Ten patients were currently having in-
fantile spasms and had hypsarrhythmia or other
epileptiform activity on EEG; 11 patients had previ-
ously had infantile spasms and at the time of the
current evaluation had epileptiform or nonspecifi-
cally abnormal EEGs. These 21 patients constitute
18% of patients who had diagnoses of infantile
spasms documented by video-EEGs.
Other Seizures
Nine patients had other seizures that were not in-
fantile spasms. All of these were myoclonic seizures
(Table 1). Patients with benign myoclonic epilepsy
had generalized atypical spike-and-wave discharges
on EEG and were neurologically normal.5 Patients
with Lennox-Gastaut syndrome, including one
former infantile spasms patient, had generalized
slow spike-and-wave (1- to 2.5-Hz) discharges on
EEG.6
Nonepileptic Myoclonus
Twenty-nine patients had nonepileptic myoclonus
(Table 2). The EEG was normal at the time of these
episodes. Nineteen of these patients had rhythmic
sleep myoclonus: repeated generalized myoclonic
jerks during drowsiness and quiet sleep. This ap-
peared to be identical to what has been called benign
neonatal sleep myoclonus in previous reports. 7-10 We
TABLE 1
Myoclonic Seizures in Nine Infants
*These patients had abnormal neurologic histories and examinations and
tiform EEGs but did not have infantile spasms previously or currently.
396
Downloaded from jcn.sagepub.com at UNIV TORONTO on November 18, 2012
did not use that term because our patients were
older and because more than half of our patients
with this type of myoclonus were not normal, in-
cluding four infants who previously had infantile
spasms and four infants who currently had infantile
spasms. Our normal infants with rhythmic sleep
myoclonus were 1 to 6 months of age (mean age, 3
months), the usual age range of benign neonatal
sleep myoclonus. However, the age range of the
previous or current infantile spasm patients who
had rhythmic sleep myoclonus was 2 to 14 months
(mean age, 8 months). One of our nine normal in-
fants who had rhythmic sleep myoclonus later de-
veloped focal occipital spike discharges on EEG and
complex partial seizures. One of our two other neu-
rologically abnormal infants later developed infantile
spasms.
Other forms of myoclonus were found in 10 pa-
tients. This included physiologic nonrhythmic sleep
myoclonus11 in four infantile spasms or other abnor-
mal Wake or wake and sleep myoclonus,
patients.
which recorded in two normal infants, was both
we
rhythmic and nonrhythmic and fit descriptions of
benign myoclonus of early infancy.12,13 Various
forms of subcortical myoclonus 14 were recorded in
the remaining four patients during waking or sleep,
including one patient with marked startles and Moro
reflexes and one patient with degenerative brain dis-
ease. The latter patient has been reported previ-
ously.15
Other Motor Symptoms
Seventeen patients had motor symptoms that were
not epileptic and not myoclonic (Table 3). The EEG
showed no ictal changes concurrent with these
symptoms. One normal infant had episodic arching
of the trunk when crying; this disappeared later in
infancy. Among the ten patients who had repeated
extensor posturing due to spasticity, there was a
neurologically abnormal 12-month-old infant who
had hypsarrhythmia on EEG but no previous or sub-
sequent history of infantile spasms. One patient
with previous infantile spasms also had pathologic
subcortical myoclonus. One patient with current in-
usually had epilep-
 TABLE 2
Nonepileptic Myoclonus in 29 Infants

*These patients had abnormal neurologic histories and examinations and usually had epilep-
tiform EEGs but did not have infantile spasms previously or currently.

fantile spasms also had gastroesophageal reflux. Pa- entiate infantile spasms from sleep myoclonus be-
tients with gastroesophageal reflux had irregular cause it would be unusual for infantile spasms to

jerky movements, including two with respiratory
disturbances. 16 Episodic tremors affected both nor-
mal and abnormal infants.&dquo; One of the latter, a
2-month-old infant, had hypsarrhythmia on the EEG
and later developed infantile spasms.
Discussion
Infantile spasms are brief, jerklike seizures with
myoclonic or tonic properties that usually occur in
series.’ Many of the episodes in our patients oc-
curred serially (especially rhythmic sleep myoclo-
nus) or in clusters (myoclonic seizures, some
subcortical myoclonus, opisthotonic posturing due
to spasticity, or tremors), closely mimicking the
movements of infantile spasms.
Rhythmic sleep myoclonus was our most fre-
quent infantile spasm imitator. Previous reports de-
scribed rhythmic sleep myoclonus (called benign
neonatal sleep myoclonus) in normal infants .7-10 Ac-
cording to these reports, a normal interictal EEG
should differentiate these infants from patients with
infantile spasms. 18 However, we found clinically
identical rhythmic sleep myoclonus in infants who
had epileptiform activity on EEG, as well as in neu-
rologically abnormal infants, and in infants who had
previous or current infantile spasms.
A history of episodes only in sleep should differ-
occur exclusively during sleep.4
However, both in-
fantile spasms and sleep myoclonus may be acti-
vated by drowsiness. Neither infantile nor spasms 19
rhythmic sleep myoclonusl°
is common during rapid
eye movement sleep. We could accurately differenti-
ate between rhythmic sleep myoclonus and infantile
spasms only by recording the EEG during the epi-
sodes and documenting absence of the ictal EEG
changes of infantile spasms.
Nolte2° described a patient who had benign
neonatal sleep myoclonus and later developed
myoclonic-astatic epilepsy. We noted that our infan-
tile spasms patients who had rhythmic sleep myo-
clonus tended to be older than our normal patients
who had rhythmic sleep myoclonus. Rhythmic sleep
myoclonus may be exaggerated or persist to a later
age in infantile spasms or other epileptic infants,
similar to the increase in physiologic sleep
nus that occurs in some adults with
m 2~oclo-
epilepsy.2
It is common clinical practice to assume that re-
petitive motor episodes in an infant who has hypsar-
rhythmia on the interictal EEG are infantile spasms,
because hypsarrhythmia occurs in most infants who
have infantile spasms and hypsarrhythmia rarely oc-
curs on the EEGs of patients who do not have infan-
tile spasms. In spite of this, we found that the
presence of hypsarrhythmia did not insure that the

TABLE 3
Other Motor Symptoms in 17 Infants

*These patients had abnormal neurologic histories and examinations and usually had epilep-
tiform EEGs but did not have infantile spasms previously or currently.
tOne patient had spasticity and gastroesophageal reflux.

397

Downloaded from jcn.sagepub.com at UNIV TORONTO on November 18, 2012

episodes that occurred could be assumed to be in-
fantile spasms; two of our patients had hypsarrhyth-
mia but no infantile spasms. It is of additional
interest, however, that the younger of our two pa-
tients who had hypsarrhythmia without infantile
spasms later developed infantile spasms, and an-
other abnormal patient also later developed infantile
spasms. This experience, as well as the later devel-
opment of occipital epilepsy in another patient, em-
phasizes that documentation of infantile spasm
imitators only means that the current episodes are
not infantile spasms. It does not mean that infants
cannot develop infantile spasms or other seizures at
a later date.
No previous report has documented a series of
patients whose symptoms imitated infantile spasms.
Kellaway et al4 emphasized that it may be difficult,
using visual observation alone, to distinguish infan-
tile spasms from other normal and abnormal infant
behaviors. Review articles and monographs concern-
ing infantile spasms or early infant epilepsy have
listed differential diagnoses that include colic, exces-
sive startles, exaggerated Moro reflexes, benign my-
oclonus of early infancy, benign neonatal sleep
myoclonus, gastroesophageal reflux, benign and se-
vere myoclonic epilepsies, and the Lennox-Gastaut
syndrome.18,22-26 Individual patients with gastro-
esophageal reflux have been reported to have symp-
toms that were mistaken for infantile spasms2’ or
other seizures.28 Our series included all of these en-
tities except colic. Repetitive body arching or spastic-
ity has not previously been mentioned in the
differential diagnosis of infantile spasms; this was
the second most common type of episode in our se-
ries.
The presence of infantile spasm imitators in pa-
tients who previously had infantile spasms or were
currently having infantile spasms is worthy of spe-
cial mention. Before the video-EEGs were obtained,
parents of infantile spasms patients were unable to
differentiate true infantile spasms from imitators.
This resulted in the erroneous impression by the
parents and physicians that infantile spasms
persisting or had recurred and that medication had
failed.
The findings of these video-EEG evaluations re-
sulted in alterations in medical management in the
majority of the patients studied. This included dis-
continuation of ACTH or other anticonvulsants in
patients who were not having seizures, and initia-
tion of appropriate anticonvulsants in patients who
were found to be having myoclonic seizures.
As a result of the findings in these patients, we
398
Downloaded from jcn.sagepub.com at UNIV TORONTO on November 18, 2012
now perform video-EEG monitoring to document
the episodes in all suspected infantile spasms pa-
tients before treatment is instituted. We also per-
form video-EEGs during follow-up when parents
complain of persisting or recurrent infantile spasms
and when documentation of whether infantile
spasms persist would alter the treatment plan.
We found it useful to show our videotapes to
the parents of infantile spasms patients to help them
differentiate at home between the true infantile
spasms and the imitating events. Many parents
could be taught to distinguish tremors, tonic postur-
ing, and some myoclonic seizures from infantile
spasms. However, myoclonus, especially
some
rhythmic sleep myoclonus occurring during drowsi-
ness, could not be reliably differentiated from infan-
tile spasms without the EEG running.
References
1. Lacy JR, Penry JK: Infantile Spasms. New York, Raven Press,
1976.
2. Dreifuss FE: Infantile spasms, in Dreifuss FE (ed): Pediatric Ep-
ileptology. Classification and Management of Seizures in the Child.
Boston, John Wright-PSG, 1983, p 98.
3. American Electroencephalographic Society: Guidelines in
EEG, 1-7 (revised 1985).J Clin Neurophysiol 1986;3:131-168.
4. Kellaway P, Hrachovy RA, Frost JD Jr, Zion T: Precise charac-
terization and quantification of infantile spasms. Ann Neurol
1979;6:214-218.
5. Dravet C, Bureau M, Roger J: Benign myoclonic epilepsy in
infants, in Roger J, Dravet C, Bureau M, et al (eds): Epileptic
Syndromes in Infancy, Childhood and Adolescence. London, John
Libbey Eurotext, 1985, pp 51-57.
6. Blume WT, David RB, Gomez MR: Generalized sharp and
slow wave complexes—associated clinical features and long-
term follow-up. Brain 1973;96:289-306.
7. Coulter DL, Allen RJ: Benign neonatal sleep myoclonus. Arch
Neurol 1982;39:191-192.
8. Dooley JM: Myoclonus in children, letter. Arch Neurol
1984;41:138.
9. Blennow G: Benign infantile nocturnal myoclonus. Acta Paedi-
atr Scand 1985;74:505-507.
10. Resnick TJ, Moshe SL, Perotta L, Chambers HJ: Benign neo-
natal sleep myoclonus. Arch Neurol
1986;43:266-268.
11. Montagna P, Liguori R, Zucconi M, et al: Physiological hyp-
nic myoclonus. Electroencephalogr Clin Neurophysiol 1988;70:
were
172-176.
12. Dravet C, Giraud N, Bureau M, Roger J: Benign myoclonus of
early infancy or benign non-epileptic infantile spasms. Neuro-
pediatrics 1986;17:33-38.
13. Lombroso CT, Fejerman N: Benign myoclonus of early in-
fancy. Ann Neurol
1977;1:138-143.
14. Paolozzi C, Guizzaro A: Physiopathology of myoclonus: A re-
view. Acta Neurol (Napoli) 1982;37:135-145.
15. Donat JF, Wright FS: Episodic symptoms mistaken for sei-
zures in the neurologically impaired child. Neurology
1990;40:156-157.
16. Herbst JJ: Gastroesophageal reflux.J Pediatr 1981;98:859-870.
17. Rosman NP, Donnelly JH, Braun MA: The jittery new- 23. Pedley TA: Differential diagnosis of episodic symptoms. Epi-
born and infant: A review. Dev Behav Pediatr 1984; lepsia 1983;24(Suppl 1):S31-S44.
5:263- 273. 24. Cruse RP: Infantile spasms. Cleve Clin Q 1984;51:273-278.
18. Lombroso CT: Infantile spasms, in Browne TR, Feldman RG 25. Glaze DG, Zion TE: Infantile spasms, in Lockhart JD (ed):
(eds): Epilepsy. Diagnosis and Management. Boston, Little, Current Problems in Pediatrics. Chicago, Year Book Medical,
Brown, 1983, pp 95-108. 1985, pp 3-39.
19. Hrachovy RA, Frost JD Jr, Kellaway P: Hypsarrhythmia: Vari- 26. Engel J Jr: Seizures and Epilepsy. Philadelphia, FA Davis, 1989,
ations on the theme. Epilepsia 1984;25:317-325. p 202.
20. Nolte R: Neonatal sleep myoclonus followed by myoclonic- 27. Bray PF, Herbst JJ, Johnson DG, et al: Childhood gastro-
astatic epilepsy: A case report. Epilepsia 1989;30:844-850. esophageal reflux: Neurologic and psychiatric syndromes
21. Symonds CP: Nocturnal myoclonus. J Neurol Neurosurg Psy- mimicked. JAMA 1977;237:1342-1345.
chiatry 1953;16:166-171. 28. Wyllie E, Wyllie R, Rothner AD, Morris HH: Diffuse esoph-
22. Bellman M: Infantile spasms, in Pedley TA, Meldrum BS ageal spasm: A cause of paroxysmal posturing and irritability
(eds): Recent Advances in Epilepsy. New York, Churchill Living- in infants and mentally retarded children. Pediatr 1989;115:
stone, 1983, pp 113-138. 261-263.

399

Downloaded from jcn.sagepub.com at UNIV TORONTO on November 18, 2012