Index terms:

Neurofibromatosis
Spine changes
Spine
abnormalities in neurofibromatosis

Issa Yaghmai, M.D.

The author illustrates the spinal changes of neurofibro-

matosis, distinguishing those that are primary and due to
mesodermal dysplasia from those that are secondary to
the effects of nerve sheath tumors.

THIS EXHIBIT. A SELECTION OF THE

SKELETAL AND NEURORADIOLOGY
PANELS, WAS DISPLAYED AT THE 70TH
SCIENTIFIC ASSEMBLY AND ANNUAL
MEETING OF THE RADIOLOGICAL Introduction
SOCIEW OF NORTH AMERICA
NOVEMBER 25-30, 1984.
WASHINGTON, D.C.
Neurofibromatosis is a congenital and hereditary dysplasia that is in-
henited as an autosomal dominant trait with no sex predilection. The mci-
dence of this disease is one in 3000 births, and spontaneous mutation is
seen in 50% of cases.
Tilesius, in I 793, for the first time described this dysplasia, however, the
disease was more fully described by von Recklinghausen in I 882. It was
von Recklinghausen who first associated the neural and the fibrous ele-
ments in neurofibnomatosis. This disorder was formerly considered to be a
neuroectodermal dysplasia with diffuse systemic changes, but it is now
recognized as a mesodermal dysplasia with diffuse or partial systemic
expressions.
Neurofibromatosis is characterized by a classic clinical triad of skin
lesions, mental deficiency and skeletal deformities. The spine is a primary
target for the manifestations of neurofibromatosis. The high incidence of
spinal involvement is the result of the relatively close relationship of the
nervous and skeletal systems in the spine.

From the Department of Ra-

diology, Medical College of
Virginia Hospitals, Virginia Corn-
monwealth University, Rich-
mond.
Address reprint requests to
I. Yaghmai, M.D.. Department of
Radiology, Box#{243}I5
MCV Station,
Richmond, VA 23298.

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Spine changes in neurofibromatosis Yaghmal

Material and Methods

A review of our I 65 cases of neurofibro- subclassified, and the illustrations in this exhibit are
matosis with spine changes revealed a great van- grouped according to the following classification:
ety of osseous and soft tissue lesions. The majority I. Bone Changes That Are the Result of
of our cases had the more common changes of Mesodenmal Dysplasia
neurofibromatosis such as scoliosis, scalloping of I, Hypoplastic bone changes (Figures 1-7)
vertebral bodies, lange intervertebral foramina, 2, Secondary changes such as scoliosis, lat-
intra- or extradural meningoceles, on panaverte- eral meningocele, etc. resulting from
bral masses. We also encountered some relatively hypoplastic bone changes (Figures 8-11)
rare changes, however, that are not well de- 3, Hypenplastic bone changes (Figure I 2)
scnibed in the literature and that are the subject of 4, Combined hypen- and hypoplastic bone
this presentation. changes (Figures 13 and 14)
The spine changes of neunofibromatosis may II. Bone Changes That Are the Result of Nerve
be classified as follows: Sheath Tumor Effects
I , Primary bone changes related to mesoder- I Intradural,
. extradunal and panavertebnal
mal dysplasia tumors (Figures 15-18)
2, Secondary bone changes resulting from 2. Secondary erosive bone changes (Fig-
the effects of nerve sheath tumors ures 19-22)
3, Mixed bone changes resulting from 3. Effects of fusiform enlargement of nerves
mesodermal dysplasia together with the (Figure 23)
effects of nerve sheath tumors 4. Malignant degeneration and secondary
These generic types of bone changes may be bone invasion (Figure 24)

I. Bone Changes That Result From

Mesodermal Dysplasla
HYPOPLASTIC BONE CHANGES

A B
Figure 1
AP (A) and oblique (B) views ofthe lumbar spine demonstrate absence of the
pedicle of L3 on the left.

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Figure 2
AP and lateral views of the lumbar spine show hypoplastic pedicles at multiple
levels. Note the increased interpediculate distance (A) and posterior scallop-
ing ofvertebral bodies (arrows) (B). Bilateralsymmetrical hypoplasia of the
pedicles involving more than three vertebral bodies is suggestive of mesoder-
mal dysplasia ratherthan oftumor erosion.

Figure 3
An AP view ofthe cervicodonsaljunction demon-
strates hypoplasia of the first, second and third
ribs on the right. The nighttransvense processes of
Co and C7 were also hypoplastic.

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 Spine changes in neurofibromatosis Yaghmai
(4
0
C
a
Figure 4
0 An AP view ofthe lower lumbar spine shows the
0
C pedicle andtransverse process ofL5 onthe left to
0
be hypoplastic (arrow).
U
(4
a

FIgure 5
A lateral view ofthe cervical spine shows hypo-
plasia of the vertebral bodies of C5, Co and C7.
The spinous processes ofthese segments were
also hypoplastic. Note the reverse lordosis of the
cervical spine.

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Figure
(A)A....
myelogram
scalloping Q!
bodies from L
anterior scalk
(arrows) (B)
duralsac and
goceles are II
1:
myelogram
is not a comm
neurofibromc
scalloplng It IC
hypoplasidof
the ‘ ‘

. . :

The scalloping ofvertebnal bodies shown in Figures 6 and 7 is a hypo-

plastic change. The lateral meningoceles are secondary changes dis-
cussed in more detail in the following section.

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SECONDARY CHANGES SUCH AS SCOLIOSIS,

LATERAL MENINGOCELE, ETC.
KYPHOSCOLIOSIS

Kyphoscoliosis was noted in only 2% ofthe cases reported here. Minor

and severe scoliotic curves were rarely encountered; moderate kypho-
scoliosis was a more frequent finding, however.

MENINGOCELE

A lateral meningocele is a herniation of the dural sac through an en-

langed intervertebral fonamen. Such foraminal enlargement, we believe,
is the result of hypoplastic changes produced by mesodermal dysplasia
affecting the vertebrae. We believe the primary abnormality to be the
skeletal hypoplasia which makes it possible for the dural sac, secondarily,
to herniate laterally in response to spinal fluid pressure. In our series, lateral
meningoceles were found throughout the spine.

Figure 8
(A) A frontal view ofthe lower dorsal spine shows
hypoplasia of the pedicles of T9 through TI 2. Abnon-
mal zones of hyperlucency in the bodies of T9, TI 0
and TI I are evidence of severe scalloping of the
posterior aspects ofthese vertebral bodies. (B) A lat-
eral view ofthe same vertebral segments confirms
the exceptionally marked posterior scalloping. (C) A
frontal viewfrom the myelognam ofthe same patient
atthe same level shows multiple lateral menin-
goceles filled with contrast material.

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Figure 10
Afnontal view ofthe dorsal spine illustrates a severe dorsal scoliosis. Such
severe dorsolumbar scolioses occur less often than mild or minimal
scolioses. They are, nevertheless, characteristic of neurofibromatosis.

FIgure 9
An AP projection ofthe dorsal spine shows a mild dor-
solumban scoliosis. Minimal or mild dorsolumbar
scolioses are frequently seen in cases of neurofi-
bromatosis and are the result of over- or under-
development of vertebral bodies.

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A B
Figure II
Frontal and lateral views ofthe cervical spine demonstrate a severe cer-
vical scoliosis. Note the hypoplasia and the unilateral underdevelop-
ment of several vertebral bodies.

HYPERPLASTIC BONE CHANGES

A B
Figure 12
AP and oblique views ofthe upper lumbar spine show unilateral overgrowth of
the L2 pedicle and arch (arrow) on the right.

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COMBINED HYPER - AND HYPOPLASTIC BONE CHANGES

A
Figure 14
Frontal, lateral and tomographic views ofthe upper
lumbar spine show unilateral overgrowth ofthe body
of LI . The hypenplasia affects only a single vertebra
and is associated with lateral scalloping.

Figure 13
A lateral view ofthe lower dorsal and lumbar spine
shows longitudinal overgrowth and scalloping of yen-
tebral bodies.

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II. Bone Changes That are the Result of

Nerve Sheath Tumor Effects
EFFECTS OF INTRADURAL, EXTRADURAL & PARAVERTEBRAL TUMORS

Figure 15
Extraduraltumor (A) Frontal viewfrom myelogram shows lat-
enal displacement ofthe thecal sac in the lumbar area by an
extradural tumor. Note the erosion ofthe pedicles on the left
by the tumor (arrows) (Figures 15B,C&D next page).
A

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0
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Figure 15
(B,C&D) Successively more caudal CT scans ofthe lumbar spine
again show displacementofthe opacified thecal sac to the
right by the extradural tumor on the left.

Figure 16
Extradural and paravertebral schwannoma (A) Frontal radio-
graph of lower dorsal spine shows deformity ofTi 0 and lateral dis-
placement ofthe opacified thecal sac by a large extradural and
panavertebral schwannoma. (B&C) AP and lateral tomograms
show extensive destructive changes ofT9 through TI 2. (D) CT scan
atthe level of TI0 shows vertebral destruction, extradunal tumor
and a paravertebral mass.
A

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; Figure 17
Paravertebral neurofibroma with calcification
(A&B) Frontal and lateral views of the chest show
#{149}5 a large right paravertebral neurofibroma con-
. taming calcifications. Calcified nerve sheath
4) tumors are rare; only a few cases have been re-
. ported in the literature.
2
a
a.

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Ia
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Figure 18
Paravertebral neurolemmoma (A) Frontal (D
0
radiograph from a urognam shows depression of a
the left kidney by a large paraventebral neuro-
z
lemmoma in the adrenal area. (B) An angiognam 0
C
shows marked tumor hypenvasculanity.
0
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SECONDARY EROSIVE BONE CHANGES

Figure19
Tumor erosion Lateral projection ofthe cervical spine
shows unilateral lobulated tumor erosion ofthe second in-
tervertebral foramen (arrow).

Figure 20
Tumor erosion (A&B) Frontal and oblique views ofthe cer-
vical spine show unilateral lobulated tumor erosions of 04,
05 and 06 with expansion ofthe corresponding interver-
tebnal foramina. (C) Frontal view from the myelogram of
the same patientshowsthe effectofextrinsic pressure from
the tumor on the spinal canal. (D) Frontal angiogram shows
displacement ofthe vertebral artery by the tumor.

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U)

. Figure 21
( Tumor erosion (A)Lateral view ofthe cer-
C vical spine shows erosion produced by
large 01-02 neurofibroma. (B&C) AP and
lateral views from the myelogram of the
I; same patientshow compression ofthe spi-
I nal canal. (D-G) Successively more caudal
I CT scans at the level of C I and 02, with a
a myelographic agent in the subarachnoid
. space, reveal a large mass displacing the
0 cord and causing pressure erosion of the
‘ archofCl.

B C

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2 Figure 22
c Mixed type neurofibroma (A-D) Plain
radiographic examination of cervical spine
m shows erosive changes ofthe odontoid
. process and arch ofthe atlas (A) by a tumor in
01-02 region. There is posterior scalloping of
I vertebral bodies (B) with enlargement of
. foramina (C&D). Hypoplasia of the body of 02
V associated with anterior scalloping is the re-
suit of mesodermal dysplasia. (E) Lateral view
( from the myelogram of the same patient
shows a large dural sac and multiple lateral
meningoceles. The meningoceles are secon-
dary to hypoplasia of bone.

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EFFECTS OF FUSIFORM ENLARGEMENT OF NERVES

CTFINDINGS OF NEUROFIBROMATOUS TUMORS

Fusiform enlargement of nerves was fre-

quently noted during autopsies and during surgi-
cal procedures. This type of lesion was seldom in-
cluded among the radiographic findings of
neunofibromatosis before the era of computed to-
mognaphy. Only since the advent of CT scanning,
have we been able to identify these lesions reli-
ably.
Computed tomognams usually show fusiform
enlargement to involve relatively long nerve seg-
ments and to extend into their branch fibers.
Occasionally, these lesions exceeded 30 cm in
length and their extension along numerous large
and small branch fibers was occasionally seen
(Figure 23). These lesions, in general, displayed
very low attenuation. There are often areas of
greaten attenuation within them, however, and
after the injection of a contrast agent, the areas of
greaten attenuation enhance while the areas of
lower attenuation reveal little on no enhance-
ment.
Histopathologically, these tumors are myxoid
in appearance because of an endoneural
myxoid matrix beiween axons. The matrix is com-
posed of acid mucopolysacchanides similar to
cartilage but less dense. It is this matrix separating
the axons from each other that produces the
fusifonm enlangement of nerves. Schwannomas
owing to their uniform cell distribution, usually
have a more uniform CT appearance than neuro-
fibnomas.

Figure 23
Fusiform neurofibroma (A-E) Successively more
caudal CT scans from the level of L3 (A) to the mid
thighs (E) show lucentfusiform neurofibromas ex-
tending along the nerve roots bilaterally. Note that
portions ofthe tumor show contrast enhancement.
Unenhanced areas representthe myxoid matrix
rather than tumor necrosis or cystformation. (F) His-
tologic section through the small branch of fusiform
tumor in thigh revealed rather less vascular matrix
which is commonly seen in cases of neurofibroma.
C

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Spine changes in neurofibromatosis Yaghmai

MALIGNANT DEGENERATION AND SECONDARY BONE INVASION

Figure 24
Malignant schwannoma (A) AP view ofthe pelvis shows
displacement of the urinary tract to the right by a large
malignant schwannoma that is invading the sacrum and
ilium. (B&C) CT scans of the pelvis through the level of the
lesion demonstrate bone destruction and a large intra-
pelvic soft tissue mass.

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Conclusion

Deficient growth and overgrowth of bones, as 4, Plain radiographs appear to be sufficient

well as of soft tissues are the stigmata of neurofi- for the evaluation of the wide variety of spinal
bromatosis. Therefore, neurofibromatosis patients changes. Myelography, angiography, and espe-
present a wide variety of skeletal abnormalities cially CT and MRI have, in recent years, given us a
that are readily recorded by the radiologist. Some better opportunity to investigate soft tissue tumors
manifestations of these lesions are best demon- and their relation to adjacent normal structures,
strated by newer types of imaging such as CT and including bones, arteries, veins, the spinal cord
MRI. The osseous changes of neurofibromatosis and nerves.
are mainly the result of mesodermal dysplasia, but 5, Computed tomography and MRI are the
are in part related to nerve sheath tumor erosion only imaging modes that afford visualization of
or pressure effects. Combinations of these fusiform elongated nerve sheath tumors (Figure
changes were seen in some of our cases (Figure 23).
23). The radiographic findings of spinal changes 6, The “double density” and partial en-
are well documented in the literature, however, hancement of nerve sheath tumors, especially
the following features are worth mentioning. neurofibromas, are frequently seen. We believe
I , Partial on complete overgrowth of bone is that they reflect the presence of a myxoid matrix
frequently noted in the extremities. Review of our of acid mucopolysacchanides around the axons
cases demonstrates that overgrowth occurs in the rather than cystformation or necrosis in this tumor.
spine aswell (Figures 13 and 14). 7, Finally, neurofibromatosis presents a wide
2, Lateral meningoceles were noted in I 2 variety of radiographic manifestations. Therefore,
cases in our series. The most common site for lat- if we encounter a lesion that does not fit any nec-
eral meningoceles was the cervical spine. We be- ognizable category, neurofibnomatosis should be
lieve that the primary defect in such cases is considered.
hypoplasia related to mesodenmal dysplasia; her-
niation of the dura is a secondary change.
3, Lobulated erosive bone changes, unilat-
eral erosive changes or hypoplasia of pedicles or
foramina, and deep posterior scalloping of one
or two vertebral bodies are, we believe, produced
by tumor effects rather than by mesodermal
dysplasia.

Suggested Readings

I . Klotte EC, Fronken

EA, Smith JA. The radiographic spectrum 5. Tilesius von Tilenou WG. Historia pothologica singularis cutis
in neurofibromatosis. Semin Roentgenol 1976; 1I(I):I 7-33. turpitudenius. Jo Godofredi Rheinhordi Viri 50 Annorurn,
2. Danemon A Mancer K, Sonley M. CT appearance of thick- Leipzig. S.L. Crusins.
ened nerves in neurofibromotosisAJR 1983; 141:899-900. 6. Rezoion SM. The incidence of scoliosis due to neurofi-
3. Riccordi VM. von Recklinghousen neurofibromotosis. N EngI bromotosis. Acto Orthop Scond 1976; 47:539.
JMed 1981;305(27):1617-1627. 7. HoItJF, Wright EM. Rodiologicfeotures of neurofibromotosis.
4. HoIt JF. Neurofibromatosis in children. AJR 1978; 130:615- Radiology 1948; 51 :647-663.
639.

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