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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_6042_Библиотеки_им_академика_М_И_Перельмана.pdf
41
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_14
1 4
Compression Myelopathy Due to an Intramedullary Cyst Containing Ectopic Choroidal Plexus Tissue
14.1 Definition
This is a unique condition where there is ectopic choroid tissue in the spinal cord
causing pressure myelopathy.
14.2 Incidence
This is a single case reported, whereas intracranial cysts containing ectopic choroid
plexus or choroid-like tissue has been rare rarely reported (fi ve cases).
14.3 Etiology
The choroid plexus develops from the tela choroidea and projects into the lateral
ventricle on its medial aspect, roof of the third ventricles and roof of the fourth ventricle. Such tissue or tissue like it has been found in the epithelial linked noncommunicating cysts intracranially. The exact causative factor is still unknown. It is
considered as a developmental abbreviation with a theory that the same origin and
that the ectopic choroid is formed by metaplasia of the ependymal rest.
14.4 Pathology
The histopathology and the immunohistochemical exam showed a normal choroid
plexus consisting of a single layer of choroid epithelium arranged in microvillar
pattern with a microvascular core. Immunohistochemical staining showed with glia
Abstracted and reported by Dwarakanath et al. ( 2005 )
42
fi brillary acid protein and epithelial membrane architecture suggestive of a normal
choroid plexus confi rming the ectopic choroid plexus nature.
14.5 Case Report
A 30-year-old man complained of progressive descending weakness from the upper
to the lower limbs giving the neurological picture of tetraparesis.
14.6 Diagnosis
Diagnosis is based on the following criteria:
1. MRI of the spine: Expansion of the spinal canal; C6–T2 intramedullary cystic
lesion: hypointense on T1 weighted images and hyperintense on T2 weighted
images. More details show holocord syrinx.
14.7 Management
Since the patient had compression myelopathy microsurgery was through laminectomy C6–T2, the dura was expanded, opened, the cord distended, paper thin myelotomy and syringostomy through the cyst, which was dissected and removed with its
choroid content. Laminoplasty with miniplates and screws was done with uneventful post-operative course.
Reference
Dwarakanath S, Suri A, Mahapatra AK, Mehta VS, Sharma MC. Intramedullary ectopic choroid
plexus: report of a rare case. Neurosurgery. 2005;56:869.
14 Compression Myelopathy Due to an Intramedullary Cyst
43
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_15
1 5
Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome
15.1 Definition
Hunter syndrome, mucopolysaccharidosis type II, MPS-II, or iduronate-2sulphatase defi ciency is cause by defi ciency of enzyme L-iduronate-2-sulphate.
Hunter syndrome has two clinical subtypes. It shows X-linked recessive inheritance
and is the only one of mucopolysacchariodosis in which the mother alone can pass
the defective gene to the son.
Chiari malformation I (CM1) is a congenital cerebellar tonsil downward ectopically causing holocord syringomyelia.
15.2 Incidence
Hunter syndrome develops in 1:100,000 to 150,000 male births. Chiari malformation 1 (CM1) appears in 1:100 of pediatric population.
15.3 Etiology
MPS-II is an X-linked recessive lysosomal storage disorder caused by iduronate- 2sulphatase (IDS) defi ciency. The resulting lysosomal accumulation of upstream
metabolites affects a variety of organ systems, including visceral organs, skeleton,
connective tissue, and the CNS.
Abstracted from Manara et al. ( 2014 )
44
15.4 Pathology
Skeletal changes glycosaminoglycans (GAG) accumulation in the growing carti-
lage results in the dens dysplasia and atlantoaxial instability. Subsequent periodontoid fi brocartilaginous tissue deposition with upper cervical stenosis results in
compression myelopathy and holocord syringomyelia.
Other skeletal abnormalities scoliosis, kyphosis, joint stiffness
Cranial abnormalities CM1 as described in the case report
Chiari malformation Chiari malformation I is due to the underdevelopment of
mesenchymal structures forming the clivus and posterior cranial fossa bones. In
90 % of cases holocord syringomyelia there is also CM1. In CM1 there are congenital impingements of the cerebellar tonsils due to discrepancy between the
size of the posterior cranial fossa and the volume of the cerebellar structures.
The abnormal postion of the cerebellar tonsils interferes with cerebrospinal
fl uid dynamics at the foramen magnum is possibly the cause of spinal cord damage, leading to holocord syringomyelia, which may involve the medulla
oblongata.
Soft connective and mesenchymal tissues are affected by MPS-II leading to
abnormalities of bone growth e.g., dysostosis multiplex and possibly CM1.
15.5 Clinical Picture
Primary mesenchymal involvement of the cranio-occipital region, the coexistence of CM1 and MPS-II might not be unexpected and complicate further the
disease in these patients. Strict monitoring a prompt treatment might be of foremost importance for preventing major neurological complications. At birth the
child appears normal; gradually, the child develops morphologic changes: recurrent respiratory infections, joint stiffness and organomegaly. About 10 % of
MPS-II patients with severe upper spinal canal stenosis causing compression
myelopathy, this may require decompression surgery. The signs and symptoms
may overlap with those of other systems involved. Diagnosis and monitoring will
depend on MRI fi ndings in the craniocervical region particularly for spinal stenosis and CM1. In the cranium underdevelopment of mesenchymal structures
forming the clivus and the cranial fossa are to be observed. The onset is insidious
and slowly progresses. In CM1 there is headache, neck pain and brain stem dysfunction and syringomyelia e.g., motor and disassociate sensory impairments
and scoliosis.
15 Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome
45
15.6 Diagnosis
Diagnosis is based on the following criteria:
1. Clinical examination
2. Biochemical examination
• Urinary glycosaminoglycans are high
• L-iduronate-2-sulphatase activity of leukocytes is low
• Genetic studies reveals c.589-592 del CCTG of IDS gene
3. MRI reveals shows the J-shaped pituitary sella, enlargement of the perivascular
(Virchow-Robin) spaces in the corpus callosum and semiovale bilaterally.
Moderate ventricular enlargement. Ectopic cerebellar tonsils 6 mm below the
foramen magnum, evidence of CM1. MRI of the craniocervical region shows
dens hypoplasia with periodontoid cap leading to stenosis of the cervical spinal
canal. MRI of the brain shows cerebral atrophy. MRI of the spine shows syringo-
myelia and compression of the cord, a holocord syrinx from the cervico-medul-
lary junction to the conus medullaris.
15.7 Management
• Enzyme replacement therapy: idursulfase (Elaprase (R)) at a dose of 0.5 mg/kg
per week
• Surgical therapy:
– Decompressive suboccipital craniectomy
– C1 laminectomy
– duraplasty
The result was clinical and neurological improvement and relief from neurological symptoms and bladder and bowel incontinence and complete disappearance of
the syrinx.
In conclusion this case highlights that a cerebellar tonsils impingement in MPS-II
patients does not strictly depend on the size of the posterior cranial fossa and that a
low position of the tonsils should be noted even in the presence of an enlarged cisterna manga. The cerebellar tonsil impingement in MPS-II patients may require
very close monitoring with MPS-II myelomalacia and multi-organ involvement.
The MPS-II related instability of the atlanto-axial junction leads to spinal canal
stenosis and consequent syringomyelia. The roll of surgery is important in MPS-II
patients with syringomyelia to improve the neurological impairment.
Reference
Manara R, Concolino D, Rampazzo A, et al. Chiari 1 malformation and holocord syringomyelia in
hunter syndrome. JIMD Rep. 2014;12:31–5.
Reference
47
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_16
1 6
Myelopathy in Infantile Myofibromatosis
16.1 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.
16.2 Incidence
According to Tamburrini et al., it is the commonest fi brous disorder of infancy and
childhood. According to Wada et al., in 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.
16.3 Etiology
The condition is congenital. Extensive search did not show the genetics of this
tumor.
16.4 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
Abstracted from Tamburrini et al. ( 2003 )
48
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. ( 1998 ),
immunohistochemistry 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 authors’ case extended into the spinal canal through the intervetebral
foramen. The pelvic tumor compressed the ureter leading to hydronephrosis. There
was bone involvement. They referred to nine intracanal involvement cases usually
epidural calvarial masses causing compression. Adickes et al., reported a case of
multicenteric tumors on the spinal epidural surface and within the parenchyma of
the spinal cord.
16.5 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 peripheral nerves or viscera. Intrapelvic
tumors give rise to pressure on ureter resulting in hyperureter and hydronephrosis.
Osseous lesions give rise to pathological fractures. Diminick 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.
16.6 Diagnosis
Diagnosis is base on:
1. Clinical history from patients
2. Neurological assessment
3. The presence of mass especially paravertebral
4. X-ray: shows extremity fractures
5. CT scan: showed paravertebral tumor invading the spinal canal
6. MRI: showed involvement of the spinal canal and rarely intraperichymatous
involvement of the spinal cord.
7. Brain studies: show epidural mass
16 Myelopathy in Infantile Myofi bromatosis
49
8. Histopathology: CT guided needle biopsy will show the pathology as mentioned
aboved.
It should be differentiated from disseminated neuroblastoma, soft tissue sarcoma, histiocytosis X, lymphangiomatosis and neurofi bromatosis.
16.7 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 may be resected if causing visceral pressure such as
hydronephrosis.
• Chemotherapy and/or radio therapy have been tried in children with unresectable
or rapidly progressive disease.
References
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.
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. Epub 2003
Apr 29.
References
51
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_17
1 7
Tetraparesis in Laurence-Moon-BiedlBardet Syndrome
17.1 Definition
Laurence-Moon-Biedl-Bardet (LMBB) syndrome is manifested by:
• Polydactyly
• Obesity
• Hypogonadism
• Retinitis pigmentosa
• Mental retardation
To diagnose the syndrome at least four of the above features must be present.
There are seven heredity syndromes related to LMBBS deafness, ataxia, diabetes
mellitus, renal involvement, quadriparesis, or paraplegia.
17.2 Incidence
The authors refer to a few cases previously reported.
17.3 Pathology
No data available. Their case had spinal stenosis causing myelopathy, which was the
fi rst case.
Nyska et al. ( 1991 )
52
17.4 Clinical Picture
A 36-year-old male presented with postataxial polydactyly, retinitis pigmentosa,
obesity, hypogonadism and borderline mental retardation. He suffered inability to
walk with micturition dysfunctions.
Neurological exam showed lead-pipe quadriplegia. Spasticity was more marked
in the lower than the upper limbs and the right side more than then left. Patellar and
ankle refl exes were brisk, with patellar and ankle clonus and had bilateral Babinki
sign. Sensory damage was bilateral hypoesthesia from C2 downwards. Hip joint
movements were limited. According to JOA score to be one point. Urodynamics
showed spastic sphincter, necessitating a sphincterotomy.
Radiography and CT scan showed cervical and lumbar stenosis. The narrowness
interpedicular distance of the cervical spine was 15 and 14 mm in the lumbar vertebrae. The smallest anteroposterior distance was 3 mm at C3 and 10 mm at L3 vetebra. There was also platyspondyly and Schmorl nodes of almost all thoracic vertebral
bodies. MRI showed almost complete block of the cervical cord with almost complete block of the cervical canal with atrophy of the cord at C3–C4 and C6. Similar
changes were seen in the lumbar spine.
17.5 Management
Laminoplasty C3–C6. Three months post-op, the cervical cord was wide; 6 months
the patient could only stand with help but still with spastic tetraparesis.
Reference
Nyska M, Mozes G, Howard C, Bar-ziv J, Dekel S. Quadriparesis in the Laurence-Moon-Biedl-
Bardet syndrome: case report. Paraplegia. 1991;29(5):350–4.
17 Tetraparesis in Laurence-Moon-Biedl-Bardet Syndrome