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Deafness in Cockayne's syndrome Morphological morphometric and quantitative study of the auditory pathway.

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Deafness in Cockayne's Syndrome:
Morphological, Morphometric, and
Quantitative Study of the Auditory Pathway
A. Gandolfi, MD,*?S§ D. Horoupian, MD,*S§ I. Rapin, MD,tS§ R. DeTeresa, BS,*S§ and V. Hyams, MDll
~
~~
The auditory pathway of a 17-year-old deaf patient with Cockayne's syndrome was examined histologically. The
cochlea showed marked atrophy of the spiral ganglion and attenuation of the cochlear division of the eighth cranial
nerve. By means of the Computer Image Analyzer, the total number of neurons in the ventral cochlear nucleus was
found to be reduced from 30,440 to 18,821. The mean diameter of the neurons in the ventral cochlear nucleus, medial
dorsal olivary nucleus, and inferior colliculus was smaller than in a control patient, whereas in the medial geniculate
nucleus and anterior transverse gyrus of Heschl, the neuronal size approximated the norm. The changes in the first
three auditory relay nuclei were considered to represent transsynaptic atrophy caused by degeneration of the spiral
ganglion and, possibly, the cochlear neuroepithelium. This histological report verifies that deafness in Cockayne's
syndrome is largely sensorineural and that degeneration of spiral ganglion in humans can lead to a chain of transsynaptic degeneration in the ventral cochlear nucleus, medial dorsal olivary nucleus, and inferior colliculus.
Gandolfi A, Horoupian D, Rapin I, DeTeresa R, Hyams V: Deafness in Cockayne's syndrome:
morphological, morphometric, and quantitative study of the auditory pathway.
Ann Neurol 15:135-143, 1984
Cockayne recognized deafness as a cardinal feature of a
syndrome that now bears his name [47. Usually, hearing impairment becomes apparent during the course of
the disease as the patient deteriorates neurologically
and cognitive functions gradually fail t5). Behavioral
studies are often unreliable, because patients are markedly disabled by the time they are tested [ 3 , 21). The
degree of hearing impairment appears to vary in Cockayne's syndrome (CS). For instance, such impairment
occurred in only one of three brothers observed by
McDonald and colleagues [17) and in two of three
siblings reported by Smits and associates [27). A 3year-old child studied by h n i n g and Simila [lS) had
only a high-frequency loss. A 7%-year-old patient of
Spark [29) was said to have a slight decrease in hearing.
Three children reported by Alton and colleagues [l)
were partially deaf. Audiograms of a patient described
by Kennedy and co-workers [ 13) revealed bilateral
sensorineural hearing loss. Hearing deterioration resulting in almost complete deafness was reported by
N e i l and Dingwall 1201 and by Paddison and colleagues [21). A patient described by Moosy r19) was
deaf and mute, a finding suggesting an early onset of
her hearing loss. In contrast, in occasional reports
deafness is not mentioned 124, 32) or is absent [26,
28). The progressive nature of the hearing loss may
account for some of the discrepancies encountered in
the various studies. It is assumed that deafness in CS is
sensorineural in origin [12), but to our knowledge this
assumption has never been verified histologically.
This report describes the histological examination of
the cochlea and the auditory pathway in a patient with
CS and its bearing on the pathogenesis of hearing dysfunction in this syndrome.
From the "Department of Neuropathology, the S a u l R. Korey Department of Neurology, and the $Rose F. Kennedy Center for Research in Mental Retardation and Human
*Iberc
Einstein College of Medicine, and the $Bronx Municipal Hospital
Center, Bronx, N Y 10461; and the IlArmed Forces Instirure of
Pathology, Washington, DC 20306.
Received Mar 23, 1983, and in revised form June 3 . Accepted for
publication June 5 , 1983.
Case Report
A 17-year-old girl had been normal at birth. Delayed motor
development had become evident at 7 months of age. She
walked at 28 months and uttered her first word at 3 years.
She had then gradually deteriorated, and by 5 years of age
had become spastic and ataxic and had developed joint contractures. Roentgenograms at age 7 years had shown severe
demineralization of the long bones but no intracranial
calcification. At 10 years she had suffered from pigmentary
degeneration of the retina, optic atrophy, posterior nuclear
cataracts, miosis, and nystagmus, and later developed corneal
opacities. Her teeth were severely decayed. At age 15 years
she had been found to be severely dwarfed (weight, 12 kg;
height, 7 5 cm) and microcephalic (head circumference, 47
Address reprint requests to Dr Horoupian, Department of NeuroEinstein colkegeof Medicine, 3oo Morris Park
pathology,
Bronx, NY 10461,
135
cm). She had prominent nose and cheek bones with the
sunken eyes characteristic of CS. She had elevated cerebrospinal fluid protein levels (108 mgidl at age 6 years and 120
mg/dl at 10 years). Nerve conduction velocities were decreased (22 to 38 d s ) . Audiometric findings were difficult to
assess because of the severity of her mental deficiency (IQ
below 20 at age 15 years). She was not thought to be totally
deaf, but evoked potential and tympanometric studies were
not carried out. Her speech never progressed beyond a few
poorly intelligible single words. H e r response to verbal commands was questionable, and she had only a few communicative gestures. She was admitted to a residential facility and
died at age 17 years.
Both temporal bones were fixed in formalin and processed
at the Armed Forces Institute of Pathology, Washington,
DC. They were embedded in celloidin, sectioned horizontally, and stained with H&E. Only the left temporal bone was
suitable for examination, the right having been badly
damaged during its removal at postmortem examination.
The brain was fixed in 10% buffered formaldehyde for 3
weeks and cut in coronal planes. The brainstem was sectioned
perpendicular to its long axis, and the block comprising the
lower end of the pons and upper end of the medulla was
secured for morphometric and quantitative study. Every
tenth slide of the entire right ventral cochlear nucleus stained
with Nissl’s method was studied with a 720 Imanco Quantimet Image Analyzer by a method previously outlined [9,
lo]. The findings were compared with those from control
subjects aged 8 to 65 years. The study of sections through the
trapezoid bodies, dorsal olivary nuclear complex, inferior colliculi, and medial geniculate bodies was limited to a cytometric comparison of specimens from the patient and the
first control subject, an 8-year-old normal girl who had died
following a road traffic accident. The patient’s brain sections
and those from the control subject were stained with H&E,
Nissl’s method, and phosphotungstic acid-hematoxylin, and
by the Bodian and Heidenhain techniques. The right primary
auditory cortex (Heschl’s anterior transverse gyrus) and right
superior frontal and left superior parietal gyri were sectioned
in a plane perpendicular to the pial surface and stained with
Nissl’s method for Quantimet study, and adjoining blocks
were treated for examination by Golgi’s method.
The acoustic nerve was processed in epoxy resin SPURR,
and 1 j . ~sections were stained with toluidine blue.
Results
The body weighed 12.7 kg, measured 86 cm in length,
and had the typical facies of CS. The cranium was hyperostotic and slightly asymmetrical. The immediate
cause of death was bronchopneumonia. Coronary arteriosclerosis and nephrosclerosis were present.
Neuropathological Findings
The fresh brain weighed 530 gm. The dura and leptomeninges were thick. The optic and acoustic nerves
were attenuated. The lumen of the right middle cerebral artery was partially occluded by an atheromatous
plaque. There was marked hydrocephalus. The line of
Gennari was indistinct. The hemispheric white matter
136 Annals of Neurology
Vol IS
No 2 February 1984
was reduced, firm, and mottled. The corpus callosum
was thin. The subcortical nuclei were small, and the
pallida dark brown. The aqueduct of Sylvius was dilated. The brainstem was attenuated at all levels. The
cerebellum was markedly atrophic and encased in
thick, fibrotic leptomeninges. The spinal dura and leptomeninges were likewise thickened.
Although postmortem examination was performed
10 days after the patient’s death, the tissues were surprisingly well preserved. The leptomeninges showed
dense fibrosis without cellular infiltrates. The cortical
mantle at the depth of the sulci was ofien thin ant1
contained occasional ferruginated neurons. There was
moderate proliferation of astrocytes and an increase in
microglial activity throughout the neuraxis. There were
some bizarre astrocytes with coarse chromatin and
others resembling Alzheimer type I1 glia. The white
matter showed irregular patchy loss of myelinated
fibers. There were numerous calcospherites in the basal
ganglia, particularly in the putamen. The lateral genicu,late nuclei displayed loss of neurons and gliosis of all six
layers. The optic nerves showed severe loss of myelin.ated axons and isomorphic gliosis. In the cerebellum it
few “cacti” were present in the molecular layer and
there was a moderate loss of Purkinje cells. The
granule cell layer was sparsely populated and contained
many torpedoes. There was patchy loss of myelinated
fibers with gliosis in the cerebellar white matter. The
corticospinal tracts were slightly pale.
Both corneas were vascularized, and the retinae
were converted into a thin, gliotic membrane. Cataracts
and uveitis were present. The retrobulbar optic nerves
were markedly atrophic.
The right temporal bone was more sclerotic than
normal, but the membranous labyrinth was not narrowed (Fig IA). There was acute mastoiditis with purulent exudate and resolving otitis media. The membranous labyrinth had developed normally. The maculae
and cristae were atrophic, the organ of Corti was not
visualized, and the stria vascularis was markedly attenuated in some turns and absent in others. Reissner’s
and basilar membranes were sometimes discontinuous
(Fig 1B). It was difficult to ascertain whether some of
these changes stemmed from a primary degeneration
of the cochlear neuroepithelium or were secondary to
autolysis. The osseous spiral lamina was very thin. 11:s
core of nerve fibers was severely depleted, and the
cochlear nerve in the canal of Rosenthal and its
branches supplving the maculae and cristae were also
atrophic. The spiral ganglia were represented by a
loosely reticulated matrix containing rare ganglion ceI Is
(Fig 1C).
The eighth cranial nerves were thin, because of loss
of myelinated fibers. There were an increase in endoneurial collagen and a few glial bundles. The findings
F i g 1 . (A) The patient’s cochlea is sclerotic, and the membranous
labyrinth is atrophic. (H&E: X 4.) (B) The organ of Corti is absent, the limbus laminae spiralis is atrophic, and the stria uascularis is attenuated. Note the thin, osseous spiral lamina with
almost total depletion of i t s core of nervejibers. IHCE; x 10.) (CI
Base of the modiolus, showing atrophy of the cochlear newe and
the spiral ganglion. IH&E: x 10.) (D, El Relatively normal
cochlea. (HDE: X 10.1
Gandolti et al: Deafness in Cockayne’s Syndrome
137
were somewhat similar to those described in Meniere’s
disease 1331.
The ventral cochlear nucleus (VCN) was superficially located and was diamond shaped rather than
pyriform (Fig 2A). Although some of the fundamental
features of the various classes of cells were maintained,
the cells tended to be smaller and more nearly oval
than those in the normal VCN (Fig 2D). The neuropil
was pale and spongy. The quantitative and morphometric analysis of the VCN of the patient and of
the control subjects is shown in Table 1. Analysis
showed a substantial reduction in the total volume of
the nucleus, and in the number and the mean diameter
of the cells it contained.
The dorsal cochlear nucleus was flattened rather than
crescentic and contained only a few multipolar neurons. Cytometric studies were not attempted.
The fibers of the trapezoid bodies were widely separated and coursed irregularly in the gliotic pontomedullary junction before reaching the dorsal olivary
nuclear complex. In the medial dorsal olivary nucleus,
the neurons were atrophic but had the usual spindleshaped configuration (Fig 2F). Their mean diameter
was 17.75 p, and the cell density was 218 per square
millimeter. The corresponding values in the control
brain were 20.9 p and 150 per square millimeter,
respectively.
Morphometric analysis showed the mean diameter
of the neurons in the central region of the inferior
colliculus to be 12.27 p and the cell density to be 438
per square millimeter, compared with 15.10 IJ. and 3 10
per square millimeter, respectively, in the control
specimen.
The anteroposterior diameter of the medial geniculate bodies was reduced, in keeping with the overall
attenuation of the brainstem. The subdivision into
magnocellular and principal parvocellular segments
was not well defined. There were many mineralized
neurons. The normal heterogeneity of the neuronal
classes was maintained. The mean neuronal diameter
was 15.75 p, and neuronal density was 243 per square
millimeter, compared with 15.71 p and 222 per square
millimeter, respectively, in the control specimen.
The cortical laminations of the anterior transverse
gyrus of Heschl were not well demarcated, largely because of the irregular distribution of the neurons and
the presence of many astrocytes (Fig 3). The acoustic
radiation exhibited diffuse pallor and patchy demyelination with gliosis. In Golgi preparations the pyramidal
neurons in all layers exhibited significantly fewer
higher-order branches, particularly in their basilar systems. The dendrites were thin and lacked the usual
distribution of spines. The relatively few remaining
spines had short and extremely thin necks. In many
respects they resembled those of a 30-week-old preterm infant 1231.
138 Annals of Neurology
Vol 15 No 2
February 1984
The mean diameter of the neurons in cortex did riot
differ substantially from that in the control specimen.
The cell density, however, seemed to be low, particularly in the anterior transverse gyrus of Heschl (Table
2).
Discussion
Before beginning this project, we were concerned
about the long postmortem delay and its possible effects on the tissues. Organs such as pancreas and kidneys, which autolyze rapidly, were very well preserved,
however, and the granular cell layer of the cerebellum
did not display any trace of cellular dissolution. Brainstem nuclei such as the inferior olives and nucleus ambiguus were unaltered, and the size of their neurons
approximated that found in the 8-year-old control patient. We therefore were confident that the changes
seen in the afferent auditory pathway were not related
to autolysis.
The temporal bone of this 17-year-old deaf patient
with CS showed absence of the organ of Corti, degeneration of the maculae and cristae, and attenuation of
the stria vascularis. Autolytic artifact was considered as
an explanation for some of the changes in the membranous labyrinth, but genuine degeneration of the
cochlear neuroepithelium could not be ruled out, especially because optic atrophy and a severe pigmentary
degeneration of the retina were observed. The changes
in the membranous labyrinth, therefore, conceivably
represent end-organ degeneration similar to the retinal
changes.
The atrophy of the branches of the cochlear nerve in
the spiral osseous lamina and modiolus, the marked
attrition of the nerve cells in the spiral ganglion, arid
the attenuation of the eighth cranial nerve were
definitely not artifactual. These degenerative changes
are very similar to those described in the cochlea of
elderly patients [2, 7). Other findings in CS have been
interpreted to indicate premature aging; indeed, earlier
reported cases of CS were confused with progeria (201.
Premature onset of arteriosclerosis, calcific vascuSlopathy in the basal ganglia, excess accumulation of
lipofuscin in neurons, Alzheimer’s neurofibrillary degeneration, and Hirano bodies have all been described
in CS [28). Many of these findings were present in our
patient, and it is possible that the changes in her cochlea represent an acceleration in the process of aging.
Hyperostosis of the skull is a common feature in CS,
and the osseous labyrinth in this patient was quite
sclerotic; there was no indication, however, that the
cochlear nerve or its branches were compressed by
bony overgrowth. There was also no suggestion that
the cochlear nerve in the auditory canal was entrapped
by the marked fibrosis of the leptomeninges.
The attenuation of the acoustic nerve was largely
caused by a reduction in the number of myelinated
Fig 2. (A1Normal ventral cochlear nucleus (VCN)/rom an 8year-old control subject. ( B ) Patient’s V C N , markedly reduced in
size. (C) Nerve cells in a normal VCN. ( D ) VCN in Cockayne’s
syndrome, demonstratingpale. spongy neuropil with reduction in
the mean diameter of its neurons. ( E ) Normal medial dorsal ohvary nucleus. (Fi Same nucleus in Cockayne? s.yridrorne. shouirlg
atrophy of its neurons. (All Nissf stain: X 10.1
Table I , Quantitative and Morphometric Analysis of the Ventral Cochlear Nucleus in Cockayne’s Syndrome and in Normal Subjei-ts
.-
Normal”
Cockayne’s Syndrome
Cell
-
No. of % o f
Class Cells
Total Frequency Distribution
No.of F of
Cells Total
8
10
12
14
16
18
20
22
24
26
28
30
32
34
36
38
40
>40
330
839
2,504
4,250
5,258
5,402
4,590
3,383
2,028
1,078
453
224
68
26
Size
160
806
1,883
3,284
4,194
4,254
2,630
1,087
395
0.85
4.28
10.00
17.45
22.28
22.60
13.97
5.78
2.10 D
97
0.52
25
0.13
0
0.00
3
0.02
3
0.02
0
0.00
0
0.00
0
0.00
0
0.00
Total no. of cells = 18,821
Mean diameter = 15.8875
Total volume = 2.084600 mm’
No. of cells/mm3 = 9,029
.-
-Frequency Distribution
1.08 I
2.76
8.23
13.96
17.27
17.75
15.08
11.11
6.66
3.54
1.49 I
0.74
0.22
0.09
6 0.02
3
0.01
0
0.00
0
0.00
Total no. of cells = 30,440
Mean diameter = 17.6047678
Total volume = 5.431017 mm’
No. of cells/mm’ = 6,470
.-
=
-
”Mean values obtained from three normal individuals [lo].
nerve fibers. Similar but less severe changes were observed in the vestibular division of the eighth cranial
nerve and the facial nerve during their course through
the temporal bone. Peripheral neuropathy is a common
feature of CS [ 18, 27) and was present in our patient. It
is possible, therefore, that the atrophy of the acoustic
nerves was partly a result of the diffuse process that
involved all peripheral nerves and was further aggravated by the degeneration of the neural elements in
the cochlea.
Cytometric analysis of the various relay nuclei in the
auditory pathway showed that the neurons in the
VCN, medial dorsal olivary nucleus, and inferior collicus were smaller than in the control specimens. This
phenomenon was not shared, however, by the medial
geniculate bodies and anterior transverse gyrus of
Heschl, in which neuronal size approximated that in
the control case. At the level of the VCN, the percentage of neurons with larger diameters was markedly reduced, and that of small-cell neurons increased, compared with the values found in the six control patients
previously studied. The restriction of the neuronal atrophy to the first three auditory relay stations could
best be explained on the basis of deafferentation, atrophy of spiral ganglion having caused primary an-
140 Annals of Neurology Vol 1 5
No 2 February 1984
terograde transsynaptic degeneration of the VCN [C,).
The changes in the medial dorsal olivary nucleus and
inferior collicus likely indicate secondary and tertiary
transsynaptic atrophy, respectively. The medial geniculate nucleus, which received more input fibers from
sources other chan the afferent auditory fibers, did not
manifest transsynaptic degeneration o r any resulting reduction in neuronal size. Neuronal atrophy confined to
the VCN, medial dorsal olivary nucleus, and medial
nucleus of the trapezoid was’also described by Webster
and Webster 130) in a 9-year-old deaf child with
congenital rubella syndrome. Although the temporal
bones were not available for examination in that case,
the authors speculated that the atrophy resulted from
transsynaptic degeneration caused by destruction of
the cochlea. Webster and Webster also compared their
findings in this deaf child with what they had observed
in postnatally sound-deprived mice and concluded that
the changes were similar. Powell and Erulkar [22]
showed destruction of the cochlea in the cat to cause a
statistically significant atrophy of the cells in the ipsilateral VCN and lateral superior olive. Other studies of
deaf patients, in contrast, have failed to disclose any
significant changes in these nuclei [S, 111.
In addition to neuronal atrophy, our patient showed
A
B
Fzg 3. (A!Normal anterior gyrus of Hescbl. IB) Patient’s anterior gyrus oftieschl, showing marked reduction in cell density
and disorganization of cortical cytoarcbitecture.(Both Nissl
stain; x 10.)
Table 2. Cytometric and Cell Density Quantimet Image
Analyzer Comparisons of Selected Sections of Cortex in Normal
Brain and Brain of Patient with Cockayne’s Syndrome
Comparison
Control Brain
Cockayne’s
Syndrome Brain
RIGHT GYRUS OF HESCHL
No. of cells counted
Mean diameter (k)
No. of cells/mm2
52 1
12.23
724
304
13.55
422
RIGHT FRONTAL GYRUS (SUPERIOR)
No. of cells counted
Mean diameter ( p )
No. of cells/mm2
~~
~~
381
13.81
527
307
12.71
427
~
L E F I PARIETAL (SUPERIOR LOBULE)
No. of cells counted
Mean diameter (k)
No. of cells/mm2
360
12.56
5 00
343
10.62
476
reduction in cell counts in the VCN. The estimated
total number of neurons in our patient with CS was
lower than in control patients: 18,821 versus 30,440
neurons, respectively. Patients with long-standing enucleation of the eyes have shown progressive loss of
neurons in the lateral geniculate nucleus [14). We
know of no comparable quantitative study of VCN in
patients with prolonged sensorineural deafness. Data
available on the subject are largely derived from experimental studies. Webster and Webster [30) have
demonstrated, in addition to neuronal atrophy, cell loss
in the dorsal cochlear nuclei of mice. Powell and Erulkar [22), however, found no evidence of cell loss up to
359 days after destruction of the cochlea in cats. The
age and species of the animal, the location of the nucleus, and the extent of deafferentation are among the
factors known to influence the degree of cell reaction
in transsynaptic degeneration [6}. It seems likely that
progressive deafferentation of VCN in humans over
prolonged periods diminishes the number of cells in
addition to reducing the size of surviving neurons.
The total volume of the VCN was markedly reduced
in our patient, and the cell packing density in the three
primary auditory relay nuclei was higher than normal,
particularly in the VCN (9,029 per cubic millimeter,
versus 6,470 per cubic millimeter in normal controls).
It was not measurably different in the medial geniculate
Gandolfi et al: Deafness in Cockayne’s Syndrome
141
nucleus, but was lower in the cortex, particularly in
the gyrus of Heschl. These findings suggest that the
neuropil in these three nuclei had undergone marked
atrophy and thus further support the contention that
the changes observed are a manifestation of transsynaptic degeneration.
The focal demyelination, fibrillary gliosis, bizarre astrocytes, and microglial proliferation that were evident
diffusely throughout the central nervous system were
considered to be additional factors contributing to the
morphological changes in the three primary auditory
relay nuclei [ 2 51. Experimental studies, however, suggest that the integrity of these nuclei depends less on
intracentral afferents than on extrinsic afferents from
the cochlear nerve. Extirpation of several different
parts of the brain in chick embryo above the level of
the medulla did not affect the normal development of
the VCN 1161. Because our data are derived from a
single case study of CS, their interpretation should be
considered preliminary until other cases are similarly
studied.
The process of neuronal migration does not appear
to be disturbed in CS, whereas neuronal maturation
seems to be impaired, at least in the cortex. Although
we are aware that some of the changes in our Golgi
study might have been artifacts of autolysis {311, the
dendritic branching pattern and spine structure of the
pyramidal neurons in the gyrus of Heschl suggest arrested development. Aberrant dendrogenesis, together
with the decrease in neuronal density in the cortex,
may be partly responsible for the severe cognitive
impairment in CS. Mental deficiency undoubtedly
potentiates the effects of hearing loss, and both contribute to the severe disorder of communication in this
condition.
Supported in part by Research Grant NS-03356 from the National
Institutes of Health and by Grant 6-234 from the March of Dimes
Birth Defects Foundation.
The authors acknowledge the important cooperation and helpful suggestions of Dr L. J. Graziani, The Woods Schools and Division of
Pediatric Neurology, Jefferson Medical College, Philadelphia; Dr 1.
Abir, Director, Medical Services, The Woods Schools, Langhorn,
PA; Dr P. J. Cherney, Department of Pathology, Abington Memorial Hospital, Abington, PA; Dr K. Suzuki, Department of
Neuropathology, and Dr R. J. Ruben, Department of Otorhinolaryngology, Albert Einstein College of Medicine; and Dr D. P.
Purpura, Dean, Stanford University, Stanford, CA. The authors
thank Dr R. D. Terry, Chairman, Department of Pathology, Albert
Einstein College of Medicine, for making the Quantimet facilities
available. The authors also wish to acknowledge the Kresge Foundation for providing the funds to purchase the image analyzing apparatus, and Mrs A. Geoghan and Mr P. Garcia for their secretarial
and technical help, respectively.
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