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5.4 Pathology
The presence of the os odontoideum is considered to be a failure of fusion of the
ossifi cation of the ossifi cation center within the odontoid process. Aplasia and clefts
of the anterior arch are very rare. Anterior midline clefts are usually associated with
posterior midline clefts. In the absence of an anterior center of ossifi cation the lateral masses do not fuse anteriorly or no fusion of the two anterior ossifi cation centers. For more details see Garg et al.
5.5 Clinical Picture
Os odontoideum may be clinically silent, may be discovered incidentally by radiography. In cases of instability from os odontoideum, neurological manifestations will
be noticed usually in the form of transitory episode of diffused paresis following
trauma. Other cases of progressive myelopathy is noted, namely weakness, ataxia,
and sensory changes due to the instability. Vascular symptoms may complicate the
picture due to vertebral artery compression.
5.6 Diagnosis
Diagnosis is based on the following criteria:
1. Clinical history
2. X-ray
3. MRI: independent ossicle rostral to the axis body in the position of the odontoid
process. T2 weighted images show aplasia of the anterior arch of the atlas and os
odontoideum. The spinal cord may show hyperintense signal at C2 suggestive of
edema of the cord.
4. CT scan: anterior arch aplasia and midline cleft of the posterior arch of the atlas.
On fl exion of the neck there is ventral displacement of CI over C2 which is
reduced on extension.
5.7 Management
Patients with bipartite atlas and os odontoideum have a potentially precarious existence due to spinal cord compression at high cervical level. In symptomatic cases
transoral odontoidectomy and posterior fi xation of occipit with C2–C3 spinous processes. Asymptomatic cases should be closely observed.
Reference
Garg A, Gaikwad SB, Gupta V, et al. Bipartite atlas with Os odontoideum. Spine.
2004;29:E35–8.
5 Anterior Arch Aplasia with OS Odontoideum
19
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_6
6
Myelopathy in Pediatric Blau Syndrome
6.1 Definition
Blau syndrome is a rare autoinfl ammatory disorder within the group of pediatric
granulomatous diseases. Mutations in nucleotide binding oligomerization domain 2
are responsible for this condition, which has an autosomal dominant pattern of
inheritance and variable expressivity.
6.2 Clinical Picture
Clinical picture includes arthritis uveitis, skin rash, and granulomatous infl ammation. CNS involvement is seldom reported. Some belated cases of seizures, neurosensorial hearing loss, and cranial nerve palsy.
6.3 Management
The management of Blau syndrome consists of NSAID, corticosteroids, immunosuppressive agents, e.g., antitumor necrosis factor α (TNF-α inhibitor). In refractory
cases immunosuppression by methotrexate, azathioprine, mycophenolate mofetil,
and interleukin-1 blockers (anakinra). Biological agents, e.g., antitumor necrosis α,
such as etanercept, infl iximab, and adalimumab.
Entanercept, a soluble recombinant dimmer of human TNF receptor protein
fused and bound to human IgG acts competitively to inhibit TNF binding itself to its
cell surface receptor. Infl iximab and adalimumab are monoclonal antibodies, the
fi rst is a murine chimeric and the latter is humanized antibody.
Adverse effects of anti-TNF-α drugs are:
Abstracted from Caraseghi et al. ( 2011 )
20
• Local infusion site and systemic reaction
• Opportunistic infections, e.g., fungi and mycobacteria
• Lymphoprolifereative disease
• Systemic lupus erythematousus like syndrome
• Demyelinating diseases, e.g., multiple sclerosis and acute transverse myelitis
6.4 Case Report
A child with Blau syndrome recovering anti-TNF-α, who developed transverse
myelitis, which was relieved when the drug was discontinued. A 13-year-old boy
presenting with paraparesis, had Blau syndrome at the age of 5 years. His mother
had rheumatoid arthritis since childhood. Her genetic study showed a dominant
autosomal mutation in the NOD2/CARD15 gene. The child was treated with cortisome and methotrexate from 8 years of age. Then he received etanercept. MRI
showed bifocal high intensity white matter lesions on T2-weighted images at C2–
C4 and at the conus medullaris L1 enhancing after gadolinium L1. Etanercept was
discontinued. Methypredinsolone was given IV 1 g/d for 5 days, followed by oral
prednisone 1 mg/kg, which was tapered in 6 weeks. He started to improve progressively so that by the end of the 4 weeks, he was almost fully recovered. After 6
weeks, MRI showed complete resolution. At 3 month follow-up, he was symptom
free. He was switched to corticosteroids and methotrexate and TNF-α inhibitor is
excluded.
Reference
Caracseghi F, Izquierdo-blasco J, Sanchez-montanez A, Melendo-perez S, Roig-quilis M, Modesto
C. Etanercept-induced myelopathy in a pediatric case of Blau syndrome. Case Rep Rheumatol.
2011;2011:134106.
6 Myelopathy in Pediatric Blau Syndrome
21
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_7
7
Intradural Extramedullary Bronchgenic C y s t
7.1 Definition
According Baumann et al., congenital spinal cysts are of three main classes:
1. Epithelial, endodermal
2. Mesenchymal, including arachnoid cysts
3. Mixed: from multiple layers of the primary germ cell layers
Whereas arachnoid cysts are relatively common, epithelial cysts are rare and
include confusing nomenclature: entregenous, foregut cysts, and endodermal cysts.
This group is divided into epidermal and ependymal. The epithelial cysts may be
gastrointestinal, which is more common and less so are the respiratory. This is the
subject of this report.
7.2 Incidence
Neurenteric cysts account for 0.5 % of spinal cord space occupying lesions.
7.3 Etiology
Bronchogenic cysts are developmental abnormalities that may affect the CNS. Their
pathogenesis is not fully understood. According to Arnold et al., there are three
hypotheses:
Abstracted from Arnold et al. ( 2009 )
22
1. The possibility of an ectoendodermal adhesion, which results in incomplete sep-
aration of germ cell layers
2. This theory suggest that the cyst originates from ectoderm, which is capable of
producing both ectodermal and mesodermal tissues
3. The split notochord syndrome postulated by Bentley and Smith, which describes
an incomplete duplication and separation of the notochord that leads to ventral
herniation through the notochord, resulting in a fi stuala, which runs through the
future spinal cord and spine and is eventually closed off as the embryo grows.
However, a cystic lesion may remain on the ventral surface. Therefore, the cyst
is a remnant of the foregut and this can differentiate into the gut tissues or others
of the endoderm
7.4 Pathology
Bronchogenic cysts occur most commonly in the cervical spine, thoracic bronchogenic cysts are extremely rare. Ko et al., reported a case in the sacral region, a thoracolumbar case by Baumann et al. The cysts have been found attached to the
sternum, pericardium, skin, diaphragm, in addition to the spinal location.
Subdiaphragmatic locations are exceedingly rare. The cyst has a connective tissue
base lined with cerebral columnar epithelium. Associated vertebral anomalies may
coexist, e.g., spina bifi da. The cyst being limited in space grows slowly, and eventually causes compression myelopathy.
7.5 Clinical Picture
The mass of symptoms is slow. Started by pain in the back or neck, depending on
the level of cyst:
• Numbness of the lower extremities
• Muscle weakness
• Inability to walk normal, wide based gait
• Loss of sensation of variable degree
• Spasticity of the lower limbs
• Incontinence of urine and/or bowel
• Neurological exam show reduced motor power of lower limbs of variable degree.
• Hypertonicity, Babinski’s refl ex positive
• Clounus may be initiated
• Some degree of sensory loss
• Spinal bifi da or other vertebral anomaly
7 Intradural Extramedullary Bronchgenic Cyst
23
7.6 Diagnosis
Diagnosis based on:
1. Clinical picture
2. MRI shows the cyst as a an oval or spherical homogeneous swelling in contact
with the spinal canal. It is hyperintense on T2 weighted images an hypointense
on T1 weighted images. The lesion is shown intradural extramendullary
7.7 Management
Surgery consists of:
1. Through laminectomy, the dura is opened and the mass is dissected by the opera-
tive telescope. To facilitate removal aspiration may be done before resection
Reference
Arnold PM, Neff LL, Anderson KK, Reeves AR, Newell KL. Thoracic myelopathy secondary to
intradural extramedullary bronchogenic cyst. J Spinal Cord Med. 2009;32(5):595–7.
Reference
25
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_8
8
Intramedullary Capillary Hemangioma
8.1 Definition
Capillary hemangiomas are superfi cial vascular lesions which are not infrequently
seen in the subcutaneous tumors such as the scalp, face, neck, oral cavity, and the
nasal vault. They may grow internally and may involve the central nervous system.
8.2 Incidence
The fi rst and only case of primary intramedullary hemangioma is described by Hida
et al., in 1993, Ianelli et al. ( 2005 ), reported a case of an infant with communicating
hydrocephalus associated with an intramedullary capillary hemangioma treated by
shunting and tumor resection.
8.3 Pathology
The case described by Hida showed angiomatous nests consisting of small capillarylike vessels, telangiectatic vessels, and aggregated venules scattered in the edematous and partially necrotic parenchyma of the spinal cord which is considered to be
due to the vascular disturbances in the lesion resulting in parenchymatous damage.
Abstracted from Hida et al. ( 1993 ) and Iannelli et al. ( 2005 )
26
8.4 Clinical Picture
The patient was 50-year-old male presenting with weakness of the lower extremities, numbness in the right lower extremity, and sphincter dysfunction. The patient’s
diagnosis was erroneously labeled as syrinx for which syringosubarachnoid shunt
was done. The condition neurologically deteriorated to tetraparesis. Reoperation
was decided, the shunt was removed, posterior median myelotomy was done and
capillary vessels were noted within the cord and were biopsied. Microscopically,
they showed telangiectatic veins, engorged arterioles and venules, marked aggregation of the capillaries and vessels. Lymphocytes were perivascularly slight proliferation of astrocytes. Postoperatively slight worsening neurologically occurred, but he
went back to the preoperative status shortly afterwards.
8.5 Diagnosis
MRI showed a non-enhanced mass, hypointense in T1-weighted images and hyperintense in T2-weighted images.
8.6 Management
The case described by Ianelli et al., the intramedullary tumor was successfully
excised like other intramedullary tumors
References
Hida K, Tada M, Iwasaki Y, Abe H. Intramedullary disseminated capillary hemangioma with local-
ized spinal cord swelling: case report. Neurosurgery. 1993;33(6):1099–101.
Iannelli A, Lupi G, Castagna M, Valleriani A, Becherini F, Bacherini F. Intramedullary capillary
hemangioma associated with hydrocephalus in an infant. J Neurosurg. 2005;103(3
Suppl):272–6.
8 Intramedullary Capillary Hemangioma
Intradural Extramedullary Capillary Hemangioma
9.1 Definition
Capillary hemangiomas are reddish-purple lesions and microscopically by the lobules of capillary-sized channels that are tightly aggregated into nodules nourished
by feeding vessels.
9.2 Incidence
Capillary intradural extramedullary hemangiomas are rare. According to Kelleher
et al. (2005), fewer than 20 cases have been reported.
9
9.3 Etiology
The cause is not clear
9.4 Pathology
The feeding vessels come from:
• Nerve roots as cauda equina
• Inner surface of the dura
• Pial vessels
Abstracted from Kelleher et al. (2005)
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_9
27
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The mass is composed of capillary-sized vessels lined by flattened mature endothelial cells. The vessels masses are separated by fibrous septa. The tumor mass acts
as a space occupying lesion, which leads to myelopathy or radiculopathy. They are
subject to bleeding, which may cause subarachnoid hemorrhage and aggravate the
neural deficit.
9 Intradural Extramedullary Capillary Hemangioma
9.5 Clinical Picture
The tumor may be silent for long, until they reach such a size to cause cord compression.
The symptoms are usually pain, sensory and motor changes, depending on the size.
9.6 Diagnosis
It is not easy to predict such a rare tumor and there are external physical signs pointing to it
MRI: The signal intensity of the tumor is isointense on T1-weighted images and
hyperintense on T2-weighted images. Details can be seen in papers by Holanda
et al. (2004), Choi et al. (2001), and Shin et al. (2000).
Should be differentiated from:
1. Cavernous hemangiomas
2. Arteriovenous malformation (AVM)
3. Hemangioblastoma or angiosarcoma
4. Paraganglioma
5. Metastasis
6. Sarcoidosis
7. Lymphoma
8. Filum terminale ependymoma
9. Neurinoma
Each of these pathologies has characteristic MRI.
9.7 Management
Since the tumor leads to myelopathy and/or radiculopathy it has to be surgically
removed. Care is excised for complete hemostatis.
9.8 Updates
Miri et al. (2009)
The authors describe a case of a 20-year-old man complaining of back pain,
radiating to both legs and paresthesia of the feet, weakness of the knee flexion and