Neuroradiology (1991) 33:326-330
radiology
X-linked deafness, stapes gushers and a distinctive defect
of the inner ear
P. D. Phelps 1, W. Reardon 2, M. Pembrey 2, S. Bellman 3, and L. Luxom 4
1 Royal National Throat, Nose and Ear Hospital, London, UK
2 Institute of Child Health, London, UK
3 Hospital for Sick Children, London, UK
4 National Hospital for Neurology and Neurosurgery, London, UK
Received: 30 October 1990
Smnmary. The association of X-linked mixed deafness
with stapes gusher has been recognised for 20 years, mad
imaging studies by polytomography have shown dilata-
tion of the lateral end of the internal auditory meatus
(IAM) in some cases. We have made genetic linkage
studies in 7 pedigrees in whom deafness was inherited in
an X-linked manner. All patients had a full range of
audiometric and vestibular function tests. Thin section
high resolution CT in two planes was used to assess the
state of the middle and inner ears. We found a distinctive
inner ear deformity in some of the deaf males charac-
terised not only by a wide bulbous IAM but more import-
antly, by deficient or absent bone between the lateral end
of the I A M and the basal turn of the cochlea. We believe
that this results in a communication between the sub-
arachnoid space in the I A M and the perilymph in the
cochlea, leading to perilymphatic hydrops and a "gusher"
if the stapes is disturbed. Moreover, some of the obligate
female carriers seem to have a milder form of the same
anomaly associated with slight hearing loss. Genetic
studies on some of the deaf males with apparently normal
inner ear anatomy suggest a different locus on the X chro-
mosome and hence a different pathogenesis for the deaf-
ness.
Key words: Deafness - Congenital malformation - Fis-
tula
Surgery to a congenitally fixed stapes footplate often
results in a profuse flow of perilymph or cerebrospinal
fluid (CSF): the so-called stapes gusher. Nance et al. in
1971 [1] were the first to recognise the condition of
X-linked mixed deafness with congenital stapes fixa-
tion and perilymphatic gusher, although there had been
a previous report of familial deafness and stapes gush-
ers [2] consistent with X-linked inheritance. Stapedec-
tomy was done in some cases because of the conduc-
tive component of the deafness in severely affected
Neuro--
9 Springer-Verlag 1991
males. Moderate hearing loss of variable degree was ob-
served in obligate female carriers by Nance and a uni-
form pattern, symmetrical severe mixed deafness was
noted in affected males. In our literature survey we have
identified radiological data in 17 patients with this condi-
tion.
Glasscock in 1974 [3], from the families traced by
Nance and his co-workers, was the first to describe, in
2patients, the abnormally dilated internal auditory
meatus (IAM) which could be demonstrated by coronal
section polytomography in association with X-linked
deafness and stapes gusher. Jensen et al. in 1977 [4] gave
a more complete radiological description of the ear le-
sions in three brothers. They used axial-pyramidal as
well as coronal section polytomography. These authors
found that the osseous separation of the lateral end of
the meatus and the vestibule/basal coil of the cochlea is
very thin, if present. Since then other descriptions of the
temporal bone anomalies all based on examination by
polytomography have come from Bento and Miniti [5]
(4 cases) and Cremers et al. [6] who studied eight af-
fected males in a large Dutch family. All these imaging
studies have recorded dilatation of the lateral part of the
I A M and Cremers also noted widening of the first part
of the facial canal. The cochleae have been variously re-
ported as larger or smaller than normal. There have
been, to our knowledge, no reports of CT examinations
in X-linked deafness.
We have made a comprehensive study of the genetic,
clinical and radiological features of X-linked deafness in
24 affected males and 11 obligate carrier females from
7 pedigrees. The purpose of this communication is to
define precisely the anatomical abnormalities of the
inner ear as shown by 1 mm thick high resolution CT
( H R C T ) sections in two planes. Other inner ear deform-
ities such as the Mondini defect and severe dysplasia of
the labyrinth associated with a cerebrospinal fluid fistula
which we have described before [7, 8] need to be distin-
guished from the X-linked temporal bone defect. They
are quite different and there is great confusion on this
subject in the North American literature.
 327

Fig. L a Coronal and axial

CT of the right ear show-
ing bulbous IAM and poor
or incomplete bony separ-
ation from the coils of the
cochlea (arrow). b Audio-
gram showing severe bilat-
eral mixed deafness
Fig.2. Two axial CT scans
showing a wide facial
nerve canal first (white
arrow) and second (black
arrow) parts. Canal at
these points measured
2 mm in diameter instead
of the usual 1 mm

2o :, ~ g 2o
40 -~ 40
60 r 60 - -

80 ~ 80
7- 100 -1- 100
1 2 0 ~ 120 I I!l~l
125 2501500 2000 8000 125 250 500 2000 8000
1000 4000 1000 4000
b Frequency (Hz) Frequency (Hz)

20 2~ I I [ L tJ

~ eoll ? Y ill
80 ~ 80 :~ Fig.3a-e. Mother of patient Fig. 1. An obligate female carrier. Co-
ronal (a) and axial scans (b) of the petrous temporal bones show-
~- loo : ~ 1oo
~- F' ing slightly bulbous IAMs (arrows). Associated with a moderate
120 120 hearing loss (e)
125 250 500 2000 8000 125 250 500 2000 8000
1000 4000 1000 4000
C Frequency (Hz) Frequency (Hz)

Material and methods a n a l y s e d using v a r i o u s p o l y m o r p h i c m a r k e r s o n t h e

G e n e t i c l i n k a g e studies w e r e u n d e r t a k e n in seven p e d i -
grees in w h o m d e a f n e s s was i n h e r i t e d in a n X - l i n k e d m a n -
ner. H i g h m o l e c u l a r w e i g h t D N A was e x t r a c t e d f r o m lym-
p h o c y t e s of a f f e c t e d p a t i e n t s a n d t h e i r families. This was
X c h r o m o s o m e to d e t e r m i n e t h e likely l o c a t i o n of t h e
d e a f n e s s - c a u s i n g genes. T h e d e a f m a l e s a n d t h e f e m a l e
carriers s o m e of w h o m h a d a l e s s e r d e g r e e o f h e a r i n g loss
were investigated by both subjective and objective audio-
metry. P u r e t o n e a u d i o m e t r y , s t a p e d i a l reflex t h r e s h o l d s ,
328
-20 : ~ -20 L]
: i

2O i i ~ 20
v 4o ! ! -~ 40 H

2 80
.~ --- ( : k - 4 - - , L j ~ 80 Ill
n- 100 -r 100
12o I
,25 25o 500
I
2ooo 8ooo
12o , z)i 11~
125 250 500 2000 8000
1000 4000 1000 4000
a Frequency (Hz) Frequency (Hz)
1 2 3 4~ 51~ 61~ ~ ~8910 ""

VI
1 2 3 4 5 6 7
f
Fig.& A typical case of X-linked deafness with a typical family tree
and results of clinical tests of VIIIth nerve function, b Axial CT
shows basal turn of cochlea (small arrow) incompletely separated
from the fundus of the IAM (largearrow). Axial MR shows the nor-
mal VIIth and VIIIth nerves in the IAM and confirms the marrow fat
in the petrous apex (34) showing bright signal on the Tl-weighted
image. On the T2-weighted image there is bright signal from the CSF
in the fundus of the IAM (white arrow) poorly separated from the
perilymph in the basal turn of cochlea (black arrow)

standard Fitzgerald/Hallpike caloric responses, direct Results

current electronystagmography, recording of visuo-ves-
tibular responses and brain stem evoked responses were
obtained. These clinical tests will be fully described in an-
other publication which will correlate the genetic, clinical
and radiological findings. Only the latter will be described
here as they are distinctive and can be correlated with the
previously described polytomography. All patients were
examined by H R C T in the axial and coronal planes using
the b o n e algorithm and I m m contiguous sections. The
sections covered the whole of the labyrinth and I A M in
both planes. Magnetic resonance was used for one typical
severe case to confirm the relation of the perilymph to
cerebrospinal fluid and the presence of yellow bone m a r -
row in large areas of the petrous pyramid.
The patients were referred by the D e p a r t m e n t of G e n e -
tics but were seen by the Radiologist (PDP) without pedi-
gree or other information. In this way the CT scans were
read blind and their interpretation was not prejudiced by
prior knowledge of the pedigree or audiological findings.
Sixteen of the 24 affected males were found to have a char-
acteristic radiological appearance characterised by:
(1) bulbous IAMs;
(2) incomplete separation of the coils of the cochlea f r o m
the I A M (Fig. 1).
(3) Wide first and second parts of the intratemporal facial
nerve canal (Fig. 2) with a less acute angle between them.
T h r e e of the 11 obligate female carrier patients had milder
abnormalites most noticeably bulbous I A M s (Fig. 3).
The males with X-linked hearing loss all revealed pro-
found hearing impairment at all frequencies with evi-
dence of mixed loss as judged by bone conduction thre-
shold values. All revealed absent ipsilateral stapedial
reflex thresholds. Brainstem evoked responses were not
elicited in the majority of cases because of the severity of
the hearing loss. Vestibular function was markedly im-
paired in both ears in each subject as judged by both ca-

~ ~..._'
Normal X - Linked mixed deafness
9 ~,,~,~
Mondini Severe dysplasia
May be some hearing Anacusis C.S.F. leak
No leak
loric testing and impulsive rotational testing with electro-
nystagmography monitoring.
Discussion
It is only recently that H R C T has surpassed polytomo-
graphy for the demonstration of fine bone detail but the
interpretation of the conventional tomographic images
was always difficult because of poor contrast, inherent un-
sharpness and spurious shadows from structures outside
the section. The greatest advantage of H R C T for demon-
strating the cochlea, however, is the axial (base) plane
which is the natural one used in the supine position, albeit
with the base line elevated 30 ~ to lessen the radiation dose
to the eyes [9]. This plane enables the individual coils of
the cochlea to be depicted. The alternative means of dem-
onstrating the individual coils is the axial-pyramidal
(Porchl) view which is no longer required now H R C T has
replaced polytomography. We did however obtain some
axial-pyramidal views on the polytome in 2 patients to
compare the appearances with Jensen's illustrations [4]:
they were very similar. The second plane we used with
H R C T was the coronal which is the natural plane for poly-
tomography. These sections cut the cochlear coils oblique-
ly and make assessment of the relationship of the coils to
the bulbous IAM particularly difficult accounting for
much of the before mentioned confusion regarding the
size of the cochlea in these patients.
329
Fig.& Adjacent prints of the normal showing a a normal air meato-
gram, air extending to the fundus of the IAM and outlining the spiral
ganglion and bony separation from the coils of the cochlea, b An
equivalent mid-modiolar histological section showing the spiral gan-
glion (SG) and lateral end of the IAM. The arrows show the postu-
lated connection between subarachnoid and perilymphatic spaces
(P) in X-linked deafness
Fig. 6. Three different structural abnormalities of the inner ear
We believe that thin section H R C T has demonstrated a
specific anomaly of the inner ear which needs to be de-
scribed fully: Bulbous IAMs widened at the lateral end
occur as a normalvariant of no significance apart from the
need to exclude widening by a space occupying lesion such
as an acoustic neuroma. However, the IAMs are usually,
but not always symmetrical, and there is always normal
bony separation between the end of the IAM and the
basal turn of the cochlea in the normal subject. The lateral
end of the normal IAM is made up of a plate of bone
known as the lamina cribrosa which is perforated by the
vestibular nerves, the facial nerves and the small branches
of the cochlear nerve passing from the spiral ganglion to
the cochlear endorgan. This bony plate and the spiral gan-
glion separate the subarachnoid space in the IAM from
the perilymph in the basal cochlear coil (Fig. 4).
The lesions we describe in this condition lead us to con-
clude by contrast that the bony plate which separates the
subarachnoid space in the IAM from the perilymphatic
space is very thin or deficient in some patients with X-
linked deafness but the p h e n o m e n o n of partial vol-
ume averaging makes it impossible to distinguish be-
tween complete and partial deficiency. These radiological
features have been extremely helpful in distinguishing be-
tween the different forms of X-linked deafness. Seven
pedigrees were involved in the study and in four of these
the characteristic appearance was noted in all cases stu-
died (n = 16). The remaining three pedigrees among
330
w h o m we examined eight patients had normal radio-
graphs. Whereas previously X-linked deafness has been
classified based on audiological and clinical charac-
teristics [10], we now propose that a m o r e logical classifi-
cation would be into radiologically abnormal and radio-
logically normal types.
The variation in the appearance of the radiographs in
the obligate female carriers is fully in line with expecta-
tions. These females each have 2 X chromosomes, one
normal for hearing and one carrying a deafness mutation.
R a n d o m investigation of these X c h r o m o s o m e s means
that in some obligate carriers, there m a y be an imbalance
of active X favouring the mutated X and thus giving some
a b n o r m a l radiographs (3 of 11 in this series) and a variable
hearing i m p a i r m e n t as observed by Nance [1] and later by
Cremers [6]. In the main, however the radiographs of ob-
ligate carrier females are normal. Problems with histologi-
cal sectioning m a y m a k e this assessment of deficiency of
bone at the lateral end of the I A M difficult even when a
t e m p o r a l bone specimen becomes available. The cochlear
coils are in our opinion normal and of normal size but
there is no doubt that this deficiency of bone also extends
to the first and second parts of the intratemporal facial
nerve canal in some cases. These parts of the canal are
wider than normal (Fig. 2) although we have found no evi-
dence of any impairment in facial nerve function.
It had b e e n our original intention to quantatively assess
the I A M s of affected patients by measuring the vertical
diameter of the I A M and comparing with a control series
as was done by Cremers [6]. We did not do this for the fol-
lowing reasons:
(1) G r e a t experience with I A M studies over m a n y years
including m e a s u r e m e n t s of 200 normal I A M s m a d e on co-
ronal section t o m o g r a m s [12] had shown a wide range of
figures.
(2) It b e c a m e apparent at the start of this investigation
that the essential malformation was not the wide, bulbous
I A M , but the deficient b o n e at the lateral end separating it
from the coils of the cochlea. Measurements at this site
would have little meaning as the bone is curved and there
is an apparent "gap" in the normal where the spiral gan-
glion is situated in the modiolus.
T h e r e have to our knowledge been 12 probable cases of
X-linked deafness where there was surgical interference
with the stapes [2-6, 13, 14]. All patients developed severe
leakage of what m a y initially have b e e n perilymph but
which subsequently must have been CSE Our imaging
studies both by CT and M R show that there is a very close
relation between CSF in the I A M and perilymph in the
basal turn of the cochlea and we believe there is micro-
scopic communication between the two sufficient to cause
a perilymphatic hydrops, and a gusher if the stapes is dis-
turbed, but insufficient to cause a spontaneous CSF leak
or allow attacks of meningitis as occur in the severe type of
labyrinthine dysplasia. Our findings of absent stapedial
reflexes in these patients do not concur with those of Cre-
mers [6] who considered that the presence of these re-
flexes indicated that the stapes foot plate was not fixed.
Stapes gushers, spontaneous CSF leaks and meningitis do
not occur in the true Mondini defect where the subarach-
noid space in the I A M is separated from the cochlear sac
by the normal basal turn and spiral ganglion and there is
often some hearing present [15]. These three different
anomalies of the inner ear are depicted in diagrammatic
f o r m in Fig. 6.
We wish to emphasize that not all stapes gushers are due
to this p h e n o m e n o n and it applies only to cases ofgusherre-
lated X-linked deafness. Some X-linked deafness pedi-
grees are not gusher related and these have normal radio-
logical appearance of temporal bone anatomy. Stapes
gusher m a y occur in other situations for different anatomi-
cal reasons. W h a t we describe is the specific radiological
appearance when gusher and X-linked deafness overlap.
Acknowledgements. We thank the Action Research for the Crippled
Child, the Hearing Research Trust and the Royal National Institute
for the Deaf.
References
1. Nance WE, SetleffR, McLedd A, SweeneyA, Cooper C, McDon-
nell F (1971) X-linked deafness with congenital fixation of the sta-
pedial footplate and perilymphatic gusher. Birth Defects 7:64-69
2. Olson NR, Lehman RH (1968) Cerebrospinal fluid otorrhea and
the congenitally fixed stapes. Laryngoscope 78:352-359
3. Glasscock ME (1973) The stapes gusher. Arch Otolaryngol 98:
82-91
4. Jensen J, Terkildsen K, Thomsen KA (1977) Inner malformations
with oto-liquorrhea. Tomographic findings in three cases with a
mixed hearingimpairment. Arch Otorhinolaryngo1214: 271-282
5. B ento RF, Miniti A (1985) X-linked mixed hearing loss: four case
studies. Laryngoscope 95:462-468
6. Cremers CWRJ, Hombergen GCHJ, Scaf J J, Huygen PLM, Vol-
kers WS, Pinckers AJLG (1985) X-linked progressive mixed
deafness with perilymphatic gusher during stapes surgery. Arch
Otolaryngol 111:24%254
7. Phelps PD, Lloyd GAS (1978) Congenital deformity of the inter-
nal auditory meatus and labyrinth associated with cerebrospinal
fluid fistula. Adv Otorhinolaryngo124: 51-57
8. Phelps PD (1986) Congenital cerebrospinal fluid fistulae of the
petrous temporal bone. Clin Otolaryngol 11:7%92
9. Phelps PD, Lloyd GAS (1990) Diagnostic imaging of the ear.
Springer, London, pp 12-13
10. McKusick VA (1988) Mendelian inheritance in man, 3rd edn.
John Hopkins University Press, Baltimore, pp 1272-1273
11. Cremers CWRJ, Huygen PLM (1983) Clinical features of female
heterozygotes in the X-linked mixed deafness syndrome (with
perilymphatic gusher during stapes surgery). Int J Pediatr Oto-
rhinolaryngol 6:17%185
12. Phelps PD, Lloyd GAS (1990) Diagnostic imaging of the ear.
Springer, London, p 175
13. Thorpe P, Sellars S, B eighton P (1974) X-linked deafness in South
African kindred. S Afr Med J 48:587-590
14. Wallis C, Ballo R, Wallis G, Beighton R Goldblatt J (1988) X-
linked mixed deafness with stapes fixation in aMauritian kindred:
linkage to X1 Probe pDP34. Genomics 3:299-301
15. Phelps PD (1990) Mondini and "Pseudo Mondini',. Clin Oto-
laryngol 15:9%101
R D. Phelps, M.D.
The Royal National Throat,
Nose and Ear Hospital
Gray's Inn Road
London WC1X 8DA, UK