Adv. Oto-Rhino-Laryng., vol. 19, pp.

356-366 (Karger, Basel 1973)

Vestibular Manifestations of Cerebellar Ectopia

(Sub-Group of Chiari J)

R. A. BERTRAND, S. N. MARTINEZ and FRAN<;OISE ROBERT

Department of Otorhinolaryngology, Department of Neuro-Surgery, and Department
of Pathology, Notre-Dame Hospital, Montreal

The increased interest and attention applied during the last decade to
vestibular problems has led to greater active participation by many oto-
laryngologists in the field of otoneurology. The emergence of recording of
vestibular function by the vestibulo-ocular reflex, the most universally used
technique being that of electronystagmography has enhanced the otolaryn-
gologist's interest in otoneurology.
While the primary interest consists of an evaluation of the status of the
vestibular peripheral organ, the analysis of the vestibulo-ocular reflex may
demonstrate abnormalities related to central vestibular pathways. The
otoneurologist should be cognizant of pathologic conditions which can
modify the vestibulo-ocular reflex.
It is the aim of this presentation to draw to the attention of the oto-
neurologist a condition for which patients presenting abnormal vestibular
manifestations may be referred for investigation.
MARTINEZ et al. [9], in 1967, presented their clinical and neuroradio-
logical approach, as well as the neurosurgical treatment of abnormally elonga-
ted cerebellar tonsils, which they classified as cerebellar ectopia, a sub-variety
of Chiari I syndrome. Both CHIARI, in 1891 [7] and 1895 [8], and ARNOLD
[3], in 1894, describing cranial medullar malformations, emphasized the
importance of hydrocephalus in relation to the craniomedullarmalformations.
In his original description in 1891, in relation to anomaly of the cranio-
medullar malformations associated with congenital hydrocephalus, CHIARI
[7] divided this malformation into 4 categories:
I. Type I, which showed a variable displacement of the cerebellar ton-
sils in the upper cervical canal.
2. Type II, which showed a variable displacement of the inferior vermis
of the cerebellum into the upper cervical canal, associated by a similar cau-
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dal displacement of the lower pons and medullar associated with an abnorm-
ally lowered position of the fourth ventricle.
3. Type III, which showed a downward displacement of the medulla,
with herniation of the cerebellum into a high cervical meningocele.
4. Type IV, which demonstrated hypoplasia of the cerebellum.
SCHWALBE and GREDIG [10] coined the term 'Arnold-Chiari malfor-
mation' to denote the Chiari type II anomaly. They found that this malde-
velopment was invariably associated with spina bifida. SCHWALBE and GRE-
DIG insist upon the presence of hydrocephalus. However, it can be absent,
in certain cases, as reported by ARING [2], ADAMS et al. [1], Bucy and LICH-
TENSTEIN [6] and TENG and PAPATHEODOROU [11].
While there exists some confusion as to whether cases without hydro-
cephalus correspond to an Arnold-Chiari type I syndrome, MARTINEZ et al.
[9] in their earlier publication coined the term for these abnormally elon-
gated cerebellar tonsils 'cerebellar ectopia, sub-variety of Chiari 1', for cases
in which there was no hydrocephalus.
Following the initial presentation of 11 cases by MARTINEZ et al., our
attention was drawn to patients presenting the same clinical symptoms, who
were referred for abnormal vestibular responses.
It is our intention to present to the attention of otoneurologists, our
experience involving these patients presenting abnormal vestibular respon-
ses, the clinical tableau of well-defined symptoms, their neuroradiological
investigation, their surgical management and finally the neuropathological
findings in cases presenting this syndrome.
In this series, patients are referred either for an abnormal nystagmic
manifestation, or disequilibrium problems. X-rays of the skull and cervical
spine are usually normal, with the exception of fusion, usually C 2-C 3 in
certain cases. The EEG is usually normal. The major symptom is that of
headache associated usually with normal X-rays of the cranium and cervical
spine. These patients are frequently treated as presenting a symptomatology
not related to an organic disease.

Case Histories

Patient No. 12
A. M.,female, 47 years 0/ age. This 47-years-old female was referred following invest-
igations in neurological and neurosurgical departments because of an abnormal vestibular
response. When referred, the questionnaire had demonstrated that for the last 2 years,
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 Vestibular Manifestations of Cerebellar Ectopia 357

A.M.~ ..

E.N.G.4184 SPONTANEOUS NYSTAGMUS

V.S,P.9o'i v.s.P.9i.
...,. ~12

..... ~11~13

hor:~13 0

...rt.~25~18

r.f.g. I./.g.

Fig. 1. With eyes open (EO) a spontaneous downward beating nystagmus is present.
With the eyes closed (EC), there is a slight increase of the frequency of the vertical nyst-
agmus and there appears a concomitant right-beating horizontal nystagmus. The spon-
taneous nystagmus for the right (RLG) and left (LLG) lateral gaze is modified, according
to the direction of the gaze and is considered abnormal.

A.M. ~4.

E.N.G.4194 SPONTANEOUS NYSTAGMUS

V.S,P.9i V.S.P.9i.

-------.!~ ------------------------ 0
u.g. d.g,

u.g. Vllrt. d.g. verI.

Fig. 2. Upward (UG) and downward (DG) vertical gaze with the eyes open demon-
strate the spontaneous downward beating nystagmus.

she presented frequent headaches in the morning upon rising, which would last for a few
hours and which would reoccur upon flexion or extension of the head. This was associated
with disequilibrium problems of rotatory and non rotatory nature. Clinical examination
demonstrated unsteadiness when walking, with the eyes closed, with marked deviation
towards the right. The Romberg test was positive. Cerebellar tests were also abnormal.
There was, with the eyes open, a downward beating nystagmus. There was abnormal pres-
sure pain in the occipital region, at the emergence of Arnold's nerve. X-rays of the skull
and cervical spine were normal.
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 BERTRAND/MARTINEZ/RoBERT 358

A.M.~48

E.N.G.4194 POSITIONAL STIMULATION

V.S.P.9i V.S.P. %

ho'.~13~11

"rl'~1.~~19
h.r, h.l.

11
~.

15

b,

Fig. 3. Positional stimulations demonstrate an abnormal response similar to the

spontaneous nystagmus with the eyes closed for the following stimulations: head turned
to the right (HR) or to the left (HL) or when the patient is lying on the right (RS) or left
(LS) side.

A.M.~48

E.N.G.4194 POSITIONAL STIMULATION

V.S.P.9-fi V.S.P.%

12
~11
22
~~31
h.h.

10

"rl~21 the the the

Fig. 4. There is no significant modification of the spontaneous response in the ventral

(V) or sitting (S) positions. The marked increase in the head-hanging position is attri-
buted to compression of the elongated ectopic cerebellar tonsils and may be, in certain
cases, the only abnormal nystagmic abnormality.

Vestibular investigation for this patient can be seen in the following diagrams
(fig. 1-5). The technique used to record the nystagmic response has already been described
by the author [4, 5].
In figure 1, we note with the eyes open, a downward beating nystagmus. It is increased
with the eyes closed and is associated with a right-beating horizontal nystagmus. There is
modification of the nystagmic response on the right and left lateral gaze, both in regards
to the (VSP) and the frequency.
Positional nystagmus, as can be seen in figures 3 and 4, demonstrates an abnormal
response, with both increase of the vertical downward nystagmus as well as the persistence
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 Vestibular Manifestations of Cerebellar Ectopia 359

of a right-beating horizontal spontaneous nystagmus. It is important to note the increase of

VSP in the head-hanging position. (fig. 4).
Caloric test demonstrates a marked directional preponderance to the right (fig. 5).
While no definite diagnostic value is given to this directional preponderance, it has fre-
quently been proven as compatible with pathology in the posterior fossa region. When
associated with other abnormal signs or symptoms, it warrants further investigation to
eliminate pathology of central origin, especially in the region of the posterior fossa.
The history, as well as the abnormal vestibular signs, led us to a diagnosis of elon-
gated cerebellar tonsils compatible with the series already reported by MARTINEZ et at [93].
This patient was referred to neurosurgery for investigation and a pneumoencephalogram
demonstrated the ectopic position of the cerebeIIar tonsils. This patient was subsequently
operated and abnormaIIy placed tonsils were found.

"'M.9"
E.N.G. 4I!i11C
l .E. 300C
v.s ... '"
.rrt. . . . . ..".........""''"' \I.t-....,t,
2.
R.E. lOOC

~~""-"~~"~"-"'\.-..r------+'--'''~ -5

l ,E ..c°c

~~.,~--.AIi~~.....I- ..
R.E, 44·C

IW,,'II.\" "."";'~.,-,,~'»I ~t~ j,\\\VI'\" I\;. li,II'ir,v,'!\','AW,', W,II\·,I\'IIo'oV/'' ,I\1 W,\tN~l ,'.'III',,\, I,: 58

L. E. O· C
,,\'WIo\~;Ii.Y.'~ ~\f.'~\\\\I'r,· "':''II:I:M\W.tl'~' ,\W,\\V,',\' ',\\ ililJ '111,\WIM'(,~'o\',\~,',\ ~,,·,\\\\W,~ ...
R,E. O· C
\,<w'.
, j
J,..<. ......v'>'.("""""'."'~I"\N
• I I I
....~h,..w..
-j ",'/W"'o/"r'''''''''~
" ""'''V' 2.

stimulations demonstrate

Fig. 5. Caloric stimulations at 30 and 44° C demonstrate a marked directional pre-

ponderance to the right, suggestive of central pathology. The - sign for stimulation of the
RE at 30° C indicates that the nystagmus is perverted being, however, less intense than
the spontaneous nystagmus of 12°/sec. A stronger stimulus (0° C) abolishes the spontane-
ous nystagmus and results in the expected left-beating nystagmus.

Patient No. 17
M. D.,female, 48 years 0/ age. This 48-year-old female was referred for disequili-
brium problems associated with headaches present in the morning upon rising. These
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 BERTRAND/MARTINEZ/RoBERT 360

would disappear after a few hours and would reoccur in certain positions, especially in
flexion and extension of the head. The clinical examination was normal, except for an
abnormal pressure pain in the origin of Arnold's nerve.
The vestibular investigation demonstrates, as can be seen in figure 6, an abnormal
response during positional stimulation, in the head hanging position. The clinical history
associated with the abnormal findings in the head-hanging positional stimulation was
suggestive of compression by abnormally elongated cerebellar tonsils and the patient was
referred for neuroradiological investigation. The pneumoencephalogram confirmed our
clinical impression. This patient was subsequently operated and ectopic cerebellar tonsils
were found.
This patient presents a case history somewhat similar to that reported by TENG and
PAPATHEODOROU [11] in which they report 'Arnold-Chiari malformation with normal spine
and cranium'. In the case report, these authors state that there was no nystagmus in any
direction of gaze. No mention is made of recording the vestibular response by electronyst-
agmography. However, in the case history, one reads: 'one week later, the symptoms had
largely disappeared except vertigo on extension of the neck. She was discharged on Ja-
nuary 23, 1957. No diagnosis had been made.'
Since these authors subsequently demonstrated by pneumoencephalography and
iodopentaque myelogram the presence of elongated or ectopic cerebeJiar tonsils sub-
sequently confirmed by surgery, it is most likely that the appearance of the symptom of
vertigo upon the head extension, resulted from a compression by the abnormally elon-
gated cerebeJiar tonsils. This case would be identical to the one just described, in which we
could elicit in the head hanging position, not only the symptom of vertigo, but also record,
with the eyes closed, an abnormal positional nystagmus (fig. 6).

M.D. 2 48
E.N.G.4508 SPONTANEOUS NYSTAGMUS

-\-__+--_-I-_~_\_----,-~r
v.s.p.rs
0 ~ --r-----r----r-\.---1-
t ____ i .----.-l__ v.s.P.~
I - 0

POSITIONAL STIMULATION

o
h.r,,(h.l.)(r.s.){l.s.)(v.)(s.): same as n.r.

n.h.

elicited

Fig. 6. Patient No. 17, in whom the only abnormal vestibular response is elicited in
the head-hanging position.
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 Vestibular Manifestations of Cerebellar Ectopia 361

Clinical Manifestations

To date, 17 patients have been diagnosed and treated by a neurosur-

gical approach.
Clinical manifestations, in order of importance, are as follows:
1. Headache, present on awakening and rising in the morning and local-
ized in the occipital region, accentuated by flexion and extension of the head
or by effort.
2. Abnormal vestibular manifestations with no precise pattern, which
can vary as in the first patient discussed, from abnormal spontaneous,
positional and caloric responses or, as in the second case, to the appearance
of an abnormal response only in the head-hanging position.
3. Abnormal pressure pain in the occipitocervical region, this being
attributed to stimulation of the sensory root of C 2 , already irritated, due to
increased pressure by the elongated cerebellar tonsils.
4. Abnormal cerebellar responses, involving adiodokinesia, dysmetria
and abnormal gait.
In almost all cases, numerous consultations and treatments have resul-
ted in no modification of the symptomatology.

Diagnosis Procedure

As already stated, the diagnosis is established by investigation consist-

ing of humeral angiography and pneumoencephalography.
Even though pneumoencephalography by itself can confirm the diagno-
sis of elongated ectopic cerebellar tonsils, humeral angiography is also done
as a complement because of the possibility of vascular anomalies.

Treatment

Once the diagnosis is established, all cases are treated by a neurosurgi-

cal operation, consisting of a decompression of the occipitocervical region
with a suboccipital craniectomy and extensive laminectomy, according to
the inferior projection of the tonsils in the cervical region (one patient had
a projection to the level of C 3 ) (fig. 7). A tonsillectomy is not attempted. If
multiple arachnoidal adhesions are present, the adhesions must be liberated
up to the inferior level. While a few cases [6] of the first 11 in the beginning
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 BERTRA ND / MARTINEZ/ RoBERT 362

Fig. 7. Surgical aspects of a bnormally elongated tonsils.

of the series did have tonsillectomy, at the present time, we do not judge it
necessary to proceed to the removal of part of the cerebellar tonsils. The
final part of the operation consists of a diamond-shaped opening, with bila-
teral central suspension of the dura, followed by a duroplasty aponeurosis and
reconstruction of the cisterna magna. It is to be noted that of the 17 patients
operated to date, one patient had arachnoiditis and pneumonia (case No.7)
and another aseptic meningitis (case No.8). The overall results in all of the
operated patients was a marked improvement or complete disappearance
of the clinical symptoms.

Differential Diagnosis

1. Tension headache - because of its localization in the occipital region,

this major symptom frequently leads erroneously to this diagnosis. Since all
patients presented this symptom, many had been treated to no avail for this
so-called 'tension headache'. The differential diagnosis can be made by the pre-
sence of exacerbation of this symptom by flexion and extension of the head. Al-
so, the presence of headache in the morning upon rising is an important feature.
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 Vestibular Manifestations of Cerebellar Ectopia 363

2. Arnold's neuralgia differential diagnosis must be made in all cases

since pressure in the interspace of C C C 2 produces an increase of the head-
aches suggestive of Arnold's neuralgia.
3. Multiple sclerosis - the abnormal nystagmic movements, as well as
the abnormal cerebellar function test may be suggestive of this diagnosis, but
the most important symptom, headache, is lacking in multiple sclerosis.
The constant clinical tableau which we find in these patients led us
to investigate the neuropathological abnormalities which can cause this
symptom.

Neuropathological Findings

In conjunction with this clinical study of 17 cases, we have examined

the brain from 3 patients presenting abnormally elongated cerebellar tonsils
who died from systemic disease.

Fig. 8. A medial sagittal section of a 63-year-old female who died of systemic disease
with a history of headaches of long duration, associated with nystagmus. Note the com-
pression by the elongated tonsils at the level of the bulbospinal junction (arrows).
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 BERTRAND/MARTINEZ/ RoBERT 364

--~~~---------- 1
~_ _ 2

~----- 1
~---- 2

of
of

Fig. 9. Schematic reproduction of the myelin stains of the cut sections through the
medulla and inferior part of the cerebellum. a represents a normal case. There is no com-
pression of the lateral parts of the medulla. b is from an intermediate Arnold-Chiari type I
and shows minimal compression of the posterolateral parts of the medulla by the cerebellar
tonsils. c is from a full-blown Arnold-Chiari type 1. The compression of the whole lateral
parts of the medulla by the elongated tonsils is now obvious. 1 = Medial long. fasciculus;
2 = vestibular nuclei.

Serial sections are being done on these 3 cases. In one case, sagittal
sections of the brain-stem and cerebellum are being done. The patient is a
63-year-old female who died of a systemic disease, with a history of head-
aches of long duration associated with nystagmus (fig. 8). In the other 2
cases, the serial sections are being done in a transverse plane (fig. 9 b, c).
At the present time, our working hypothesis is the following: the ab-
normally elongated cerebellar tonsils partially or completely obstruct the
foramen magnum and thus may give rise to compression of the vestibular
nuclei and/or the vestibulospinal tract. It may further impede the function
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 Vestibular Manifestations of Cerebellar Ectopia 365

of impulses from the cerebellar area which may result in the desiquilibrium
which is noted clinically.
The abnormally elongated cerebellar tonsils may also produce a vas-
cular distortion in the territory irrigated by the postero-inferior cerebellar
artery with a subsequent ischemic reaction, capable of inducing the abnor-
mal nystagmic responses noted in our patients. The humeral angiography
has demonstrated the abnormally lateral position of the tonsillar branch of
the posteroinferior cerebellar artery. The pressure on the superior nerve
roots of C C C 2 may contribute to the abnormal pressure pain in the occipital
region, as well as changes of the cervical tonus.
Further studies are presently being carried out on our pathological ca-
ses to determine whether there could be a concomitant compression or elon-
gation of the VIIIth nerve. We have shown that there is compression on the
lateral aspect of the medulla. Abnormal pressure at the level of the vesti-
bular nuclei and the vestibular spinal tract may well contribute to this symp-
tomatology. Ischemia may also playa role in this syndrome.

Summary

In 17 patients, abnormally elongated cerebellar tonsils have been confirmed by

neurosurgery.
A constant clinical tableau of a characteristic headache, abnormal vestibular mani-
festations, exacerbated pressure pain in the occipitocervical region and cerebellar signs
are present.
Vestibular tests, as recorded by ENG, demonstrate abnormalities, especially in the
head-hanging position.
The vestibular abnormalities are attributed to compression of the vestibular nuclei
and/or vestibulospinal tract by the ectopic cerebellar tonsils.

References

D.; ADAMS, R. D.; SCHATZKI, R., and SCOVILLE, W. B.: Arnold-Chiari malformation
diagnosis demonstation by intraspinal lipiodol and successful surgical treatment.
New Eng!. J. Med. 225: 125 (1941).
2 ARING, C. D.: Cerebellar syndrome in adult with malformation of cerebellum and
brain stem (Arnold-Chiari deformity). J. Neurol. Psychiat. 1: 100 (1938).
3 ARNOLD, J.: Myelocyste, Transposition von Gewebskeimen und Sympodie. Beitr.
path. Anat. 16: 2 (1894).
4 BERTRAND, R. A. and ARBOUR, P.: Investigation clinique de l'appareil vestibulairc
par electro-nystagmographie. Un. med. Canada 95: 612-620 (1966).
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 BERTRAND/MARTINEZ/RoBERT 366

5 BERTRAND, R. A.: Nystagmography. Its use and application in a vertigo unit. Proc.
canad. Otol. Soc. 23: 46-59 (1969).
6 Bucy, P. C. and LICHTENSTEIN, B.: Arnold-Chiari malformation diagnosis. Malfor-
mation in adult without obvious cause. Arch. Neurol. Psychiat. 55: 162 (1946).
7 CHIARI,H.: UeberVeranderungen des Kleinhirns des Pons und der Medulla Oblon-
gata in Folge von congenitaler Hydrocephalie des Grosshirns. Dtsch. med. Wschr.
27: 1172 (1891).
8 CHIARI, H.: Ueber Veranderungen des Kleinhirns, des Pons und der Medulla Oblon-
gata in Folge von congenitaler Hydrocephalie des Grosshirns. Dtsch. Akad. Wiss.,
Wien 63: 71 (1895).
9 MARTINEZ, S. N.; BERTRAND, c.; LEGEk, J. L.; LANGIE, S. and MATHIEU, P. J.: Ecto-
pies Cerebelleuses (sous-groupe du Chiari I). Approche clinique et neuroradiologique.
Son traitement neuro-chirurgical. Canad. J. Surg. 13: 403-414 (1970).
10 SCHWALBE, E. and GREDIG, M.: Uber EntwicklungsstOrungen des Kleinhirns, Hirn-
stamms und Halsmarks bei Spina Bifida (Arnoldsche und Chiarische Missbildung).
Beitr. path. Anat. 40: 132 (1970).
11 TENG, P. and PAPATHEODOROU, C.: Arnold-Chiari malformation with normal spine
and cranium. Arch. Neurol., Chicago 12: 622-624 (1965).

Authors's address: Dr. ROBERT A. BERTRAND, M. D., 1560 Sherbrooke St. East,
Montreal, 133, PO (Canada)
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