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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_6042_Библиотеки_им_академика_М_И_Перельмана.pdf
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107.4 Pathology
The tumor cells are poorly differentiated composed of dense and small oval cells
bearing hyperchromatic nuclei and scanty cytoplasm. In the spinal canal the tumor
forms a mass that causes compression myelopathy. The tumor may be epidural or
intradural.
107.5 Clinical Picture
In the six reported cases Chang et al., found spinal cord compression (SCC) in 4
girls and 2 boys. None of which had a family history. The age ranged from 6 months
to 4 years. SCC developed 4–12 months after enucleation. The thoracic spine is
most commonly involved, followed by the lumbar and the sacral. Two of the six
patients also had brain metastasis. The symptoms are usually weakness of the legs
(paraplegia), sensory loss, and urinary or defecative disturbances. Survival in their
two cases was 4 and 19.5 months.
107.6 Diagnosis
1. History of enucleation
2. Plain radiography for bone metastasis
3. Bone scan
4. MRI: diagnostic of the mass, brain inclusion in MRI is important
107.7 Prognosis
Survival in Chang et al., two cases was 4 and 19.5 months.
107.8 Management
• Surgical removal, laminectomy
• Dexamethasone
• Systemic and intrathecal chemotherapy: Methotrexate, cytarabine
• local irradiation over the spinal lesion
Reference
Chang CY, Hung GY, Hsu WM, Kao SC, Hwang B, Hsieh YL. Retinoblastoma with spinal recur-
rence presenting as spinal cord compression. J Formos Med Assoc. 2006;105(6):497–502.
107 Metastatic Retinoblastoma (Pediatric)
363
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_108
108
Infantile Myofibromatosis
108.1 Definition
Infantile myofi bromatosis (IMF) is a congenital disease characterized by formation
of benign tumors either single or multiple, arising form cells supporting and binding
the tissues of the body as well as smooth muscle tissues. The potentially massive
tumors arise from the skin, subcutaneous tissues, muscles, bones, and viscera.
108.2 Incidence
According to Tamburrini et al. ( 2003 ), it is the commonest fi brous disorder of
infancy and childhood. According to Wada et al. ( 1998 ), six cases of spinal canal
involvement were reported and added a case of their own. Tamburrini et al., reported
the fi rst solitary case of spinal canal IMF.
108.3 Etiology
The condition is congenital. Extensive search did not show the genetics of this
tumor.
108.4 Pathology
The tumor is benign, but it tends to be massive and has a tendency to regress with
age. It is either solitary or multicenteric. It involves many tissues e.g. skin, subcutaneous tissues, muscles, bones, central nervous system (CNS) and viscera. It is
Tamburrini et al. ( 2003 ) and Wada et al. ( 1998 )
364
encapsulated. Histologically it consists of spindle shaped cells without mitosis,
lymphocytic infi ltration, collagen bundles, and a prominent vascular pattern simulating hemangipericytoma in the central pattern. According to Wada et al., immunohistiochemistry shows immuo-reactivity for vimentin but desmin, neurofi lament,
neuron-specifi c enolase and leukocyte common antigen are negative. They report
gross necrosis hemorrhage and dystrophic calcifi cation. The paravertebral tumor, in
the case by Wada et al., extended into the spinal canal and through the intervetebral
foramen. The pelvic tumor compressed the ureter leading to hydronephrosis. There
was bone involvement. They referred to nine intracranial involvement cases usually
epidural calvarial masses causing compression. Adickes et al., 1985,reported a case
of multicenteric tumors on the spinal epidural surface and within the parenchyma of
the spinal cord.
108.5 Clinical Picture
IMF may be detected after birth (congenital) or within the fi rst few weeks during which the tumor is becoming hypertrophic or it may initially appear within
the fi rst 2 years of life. Small non-visceral tumors may be asymptomatic.
Generally there is a period of rapid growth, then stabilization and then regression. Small or residual tumors may eventually regress completely. Multicenteric
progressive visceral tumors are life threatening due to complications. The spinal
cord may be involved by compression in the presence of a paravertebral tumor
or the tumor may intramedullary as in the case reported by Tamburrini et al. In
either case there is paralysis of the lower extremities and bladder dysfunction. It
may be associated with cerebral symptoms due to intracranial involvement. In
some cases peripheral nerves or viscera maybe involved. Intrapelvic tumors
give rise to pressure on ureter resulting in hyperureter and hydronephrosis.
Osseous lesions give rise to pathological fractures. Dimmick and Woods
reported a case with cervical myofi bromatosis leading to tetraparesis, at the
same patient had a parietal mass. Adickes et al, reported a case of spinal and
cerebral involvement.
108.6 Diagnosis
Diagnosis is base on:
1. Clinical history from parents
2. Neurological assessment
3. The presence of mass especially paravertebral ones
4. X-ray: may show extremity fractures
5. CT scan: shows paravertebral tumor invading the spinal canal
108 Infantile Myofi bromatosis
365
6. MRI: shows involvement of the spinal canal and rarely intraperichymatous
involvement of the spinal cord.
7. Brain studies: show epidural intracranial mass
8. Histopathology: CT guided needle biopsy will show the pathology as mentioned
above.
It should be differentiated from disseminated neuroblastoma, soft tissue sarcoma, histiocytosis X, lymphangiomatosis and neurofi bromatosis.
108.7 Management
• Small non-visceral asymptomatic masses may be left alone with frequent moni-
toring, since spontaneous regression is possible.
• Involvement of the spinal cord: in the presence of paralysis mass reduction is
indicated, the residual mass will usually regress.
• Intrapelvic mass maybe resected if causing visceral pressure such as
hydronephrosis.
• Chemotherapy and/or radiotherapy have been tried in children with unresectable
or rapidly progressive disease. (Stewart et al. 1989 ; Davies et al. 1994 ; Coffi n
et al. 1995 )
U p d a t e
Abstracted from Kim et al. 2013
Abstract
Infantile myofi bromatosis (IMF) involving the spinal cord is rarely reported. Ten
cases have been found in the literature. Three cases of the solitary form and one case
involving the spinal cord. The congenital type is extremely rare, one case has been
reported with involvement of the spinal cord. The second case is presented by the
authors: a case of paraplegia detected at birth.
The case presented an 8 month old girl, presenting with weakness of both ankles
and toes, progressing since birth with a decreased MRC Grade of 1/5. Nerve conduction studies showed no peripheral nerve involvement. MRI showed a cystic and
solid mass from the mid-thoracic to sacral region and compression of the spinal
cord. The main location of the mass was ventral to the cord and had strong wall
enhancement. Abdominal ultrasonography was negative.
Management T12-L4 laminoplastic laminotomy; the dura mater could not be
identifi ed below L1, because of the purplish mass was intermingled with it. Median
durotomy above L1 was done, a thickened pinkish membrane was found dorsal to
the cord; intermingled ventrally and caudally with the dura. The mass was solid and
Update
366
hypervascular; it was partially removed because of its adhesion to the cord and
nerve roots. Duroplasty and laminectomy ended the procedure.
Histopathology revealed the tumor sheets of monotonous primitive and abundant
collagen in the background. Focally meningothelioma-like whirling of tumor cells
were found. Melanin pigment-containing melanophages were positive for smooth
muscle cells with actin and vementin. They were negative for epithelial membrane
antigen, S100 protein, desmin, myoglobin, myogenin, CD34, CD31, and GFAP.
Followup
Paresis persisted 8 days post-op: MRI showed the residual tumor from lower thoracic to sacral level. The patient continued to be observed without adjuvant radiotherapy and chemotherapy; 19 months showed unchanged residual lesion with
decreased enhancement. At 38 months patient showed improvement MRC Grade
3/5; however she could not walk and incontinence; without kyphosis
The authors state that correct diagnosis, decompression, observation may
improve the neurological outcome.
Reference
Kim EJ, Wang KC, Lee JY et al., Congenital solitary infantile myofi bromatosis
involving the spinal cord. J Neursurg Pediatr 2013;11(1):82–6.
References
Coffi n CM, Neilson KA, Ingels S, Frank-gerszberg R, Dehner LP. Congenital generalized myofi -
bromatosis: a disseminated angiocentric myofi bromatosis. Pediatr Pathol Lab Med.
1995;15(4):571–87.
Davies RS, Carty H, Pierro A. Infantile myofi bromatosis--a review. Br J Radiol.
1994;67(799):619–23.
Stewart RE, Grossman DM, Shulkin BL, Shapiro B. Iodine-131 metaiodobenzylguanidine uptake
in infantile myofi bromatosis. Clin Nucl Med. 1989;14(5):344–6.
Tamburrini G, Gessi M, Colosimo Jr C, Lauriola L, Giangaspero F, Di Rocco C. Infantile myofi -
bromatosis of the central nervous system. Childs Nerv Syst. 2003;19(9):650–4.
Wada H, Akiyama H, Seki H, Ichihara T, Ueno K, Miyawaki T, Koizumi S. Spinal canal involve-
ment in infantile myofi bromatosis: case report and review of the literature. J Pediatr Hematol
Oncol. 1998;20(4):353–6.
108 Infantile Myofi bromatosis
367
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_109
109
Myopericytoma of the Thoracic Spine Causing Myelopathy
109.1 Definition
Myopericytoma (MPC) is a recently described tumor with perivascular myoid differentiation. It was described for the fi rst time by Granter in 1994. In 2002 the WHO
classifi ed amongst the perivascular myoma (Fletcher). This neoplasm is ubiquitous
in the skin and subcutaneous soft tissues, especially in the lower extremities.
109.2 Incidence
In 2003 Cox and Giltman reported the fi rst case of MPC in the thoracic spine causing myelopathy in a 70 year old man. In 2009, Brunschweiler et al. reported a case
of the thoracic spine causing osteomalacia, which removal cured the condition.
109.3 Etiology
There are no known causative factors.
109.4 Pathology
In the case reported by Cox and Giltman, the tumor was in the body of T3 with an
extradural to the side and surrounding the cord on the right side. Microscopic exam
of the specimen showed a concentric periluminal proliferation of bland round-toovoid cells, which lacked a clearly demarcated cell membrane. The cells showed a
myoid differentiation as demonstrated by strong smooth muscle actin
Abstracted and reported by Cox and Giltman ( 2003 )
368
immunoreactivity. Other immunostains including S-100 protein, epithelial membrane antigen, factor VIII, 1 and pancytokeratin tested negative in the lesional cells.
The lesion was considered locally destructive but not metastasizing.
According to Hunald et al. 2008: The perivascular cells are contractible with oval
eosinophilic cells, which are slow growing. Generally, the neoplasm is benign but
there are reported malignant cases (McMeanann and Fletcher).
109.5 Clinical Picture
MPC may develop at any age, most commonly in the fi fth and sixth decades. The
case of spinal MPC was a man at 70. He complained of weakness of the right lower
extremity, frequent falls, and weakness of both upper extremities, and was confi rmed by clinical exam.
109.6 Diagnosis
CT myelography diagnosed a metatstatic lesion in T3 vertebra with extradural
extension to the right and surrounding spinal cord. Myopericytoma should be differentiated from chondrosarcoma, lymphoma, chordoma, neurofi broma, and
although it has some features suggestive of hemangiopericytoma MPC is a separate
entity.
109.7 Management
Spinal cord decompression and curettage of the bone tumor. The frozen perspective
sample diagnosed as large cell carcinoma. The total specimen confi rmed the diagnosis of MPC. Recovery was attained and the patient received 45 gray radiotherapy
and physical therapy. There was follow-up every 3 months and at the end of 32
months there was no recurrence and no muscle weakness.
Reference
Cox DP, Giltman L. Myopericytoma of the thoracic spine: a case report. Spine.
2003;28(2):E30–2.
1
Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor
(AHF).
109 Myopericytoma of the Thoracic Spine Causing Myelopathy
369
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_110
110
Natural Killer T-Cell Lymphoma of the Cauda Equina
110.1 Definition
This is a tumor of the cauda equina, consisting of nasal natural killer/T-cell lymphoma (NKTCL) of the cauda equina. According to Aozasa et al., nasal NKTCL is
an uncommon disease, but usually shows in highly aggressive clinical course. The
disease is much more common in Asian and Latin Amercan countries than in
Western countries. It is usually associated with Epstein-Barr virus (EBV) infection.
In the disease rapid destruction of the noes and midline of the face was fi rst described
by McBride in 1897.
110.2 Incidence
According to Morita et al. primary lymphoma of the cauda equina is extremely rare.
Only eight cases have been reported. The authors report the fi rst case of nasal type
NKTCL of the cauda equina, although spinal involvement in advanced malignant
lymphoma is not uncommon.
110.3 Etiology
According to Aozasa et al. epidemiological studies in Kore in the frequency of the
disease. Case studies showed that the exposure to pesticides and chemical solvents
could be causative of NKTCL. The etiological role of EBV studies showed consistent association of NKTCL with EBV. Almost all NKTCL in Korea and Japan had
type A of EBV. Type B or EBV was found in NKTCL in immunocompromised
patients. Molecular biological studies of NKTCL have been detail in this paper.
Abstracted from Morita et al. ( 2009 )
370
Analysis of gene alteration in NKTCL showed P53, K-ra, C-kit, and B-catanin (see
Aozasa). Epidemiological studies show the disease is common in Korea, Japan,
China, Indonesia, and rare in Europe and United States. Lifestyle and environmental factors the disease is more frequent in Asian countries and closely associated
with EBV. There are differences in frequencies of P53 and C-kit gene mutations in
patients with NKTCL in Japan, China, and Korea. There is one familial case of a
father and one of six children using large amount of pesticides. The use of pesticides
and organphosphates in individuals who have titres of EBV antibodies are more
susceptible. These fi ndings suggest causative role for some genetic, environment,
and lifestyle in the development of NKTCL
110.4 Pathology
The NKTCL of the cauda equina showed medium sized and large lymphoid cells
with irregular nuclei, diffused proliferation among the necrotic nerve fi bers, coagulative necrosis, angiocentric infi ltration of lymphoma cells. There are infl ammatory
cells: neutrophils, macrophages, plasma cells, and eosinophils
110.5 Immunohistochemistry
Lymphoma cells were positive for CD3 and CD56. EBV early RNA-1 was detected
in the nucleus of the lymphoma cell.
110.6 Clinical Picture
A 67-year-old man had 2 month history of severe leg pain, bowel, and bladder dysfunction, inability to walk. Neurological exam showed weakness of the distal muscles of the legs, sensory impairment of the perineal areas and loss of refl exes of both
legs.
110.7 Diagnosis
Diagnosis based on:
1. Confi rmation of clinical picture
2. MRI shows lumbar stenosis at L4 and L5, a mass occupying the entire thecal
area at L3-L4 and L5 and normal demarcation of the cauda. The mass had
marked homogenous enhancement after gadolinium injection. Myelography
showed complete block at L3-L4. The brain and the rest of the spine were
normal.
110 Natural Killer T-Cell Lymphoma of the Cauda Equina
371
110.8 Management
Bilateral laminectomy L3-L5, duratomy and the tumor was reddish-gray infi ltrating
and adherent to the canal. The tumor was removed carefully. Post-op the pain disappeared, he could walk, but sphincter disturbances persisted.
Reference
Morita M, Osawa M, Naruse H, Nakamura H. Primary NK/T-cell lymphoma of the cauda equina:
a case report and literature review. Spine. 2009;34(24):E882–5.
Reference