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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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© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_18
1 8
Lymphangiomatosis
18.1 Definition
Lymphangiomatosis is a disease of childhood, although was described in adults or
elderly. It is characterized by abnormal lymph tissue in different sits of the body,
except the neural tissue. There is skeletal and visceral involvement, the former leads
to bone lysis, resulting in deformity, instability, and compression myelopathy.
18.2 Incidence
The disease is rare. The authors report 2 cases both are children.
18.3 Etiology
The disease is considered a congenital anomaly, although the neoplastic nature is
still considered. Familial cases have been described.
18.4 Pathology
The disease is multifocal collections of endothelial lined tissues containing eosinophilic stained material or lymph, this is contrast with hemangiomas in which red
blood cells are found in endothelial lined spaces and both types may be combined
to hemangiolymphogioma. Extraskeletal involvement is common 75 % in the liver,
spleen, and lungs. Skeletal involvement is up to 67 % and affects skull, ribs,
Watkins et al. ( 2003 )
54
shoulder, girdle, spine, and pelvis. Other nomenclature given to the disease depending on its pathological picture:
• Generalized lympangiectosis
• Cystic lymphangiotosis
• Diffused skeletal angiomatose
• Massive osteolysis
• Gorham’s disease or disappearing bone disease is different being unifocal and
not accompanied by extraskeletal changes.
18.5 Clinical Picture
Usually children are subjects of lyphangiomatosis, 65 % but older adults and even
elderly presented the disease. There is usually a swelling in the neck, there is pain,
spinal deformity. Different sites are involved, especially the ribs, skull, and the
spine. Cord compression is manifested by weakness, inability to walk, and sensory
changes. Chylothorax and/or chylophericardium may be seen.
18.6 Diagnosis
Diagnosis based on:
1. Clinical history, which may date to infancy
2. Physical exam: swelling
3. Deformities of the cervical and thoracic spine, possible pathological fracture
4. Neurological assessment
5. Evoked potentials
6. Radiological
18.7 Management
Surgery is indicated when lymphangiomatosis causes neural compression and instability of the spine. Surgical outcome is strongly infl uenced by extraskeletal
involvement.
Reference
Watkins RG, Reynolds RA, Mccomb JG, Tolo VT. Lymphangiomatosis of the spine: two cases
requiring surgical intervention. Spine. 2003;28(3):E45–50.
18 Lymphangiomatosis
55
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_19
1 9
Ischemic Myelopathy Due to Marfan’s Syndrome
19.1 Definition
Marfan’s syndrome (MFS) is an inherited disorder that affects the connective tissue
as an autosomal dominant disorder with muscoskeletal, ocular, and cardiovascular
manifestations. Patients usually have unusual height, large hands and feet and
involvement of the lungs.
19.2 Incidence
It affects about 1 in 5,000–10,000 individuals. There are sporadic cases of spinal
involvement, exact incidence is not known. Spinal cord infarcts are rare. Wityk
et al., in a study of 513 patients 18 patients had neurovascular diagnosis (3.5 %).
Two cases had spinal cord ischemia (0.38 %), one was an infarct and one with spinal
cord subarachnoid hemorrhage.
19.3 Etiology
Clinical expression of the genetic defects however, can be variable both within and
between families. It is one of the most common genetic disorders of connective tissue. Approximately 75 % of patients inherited the disease through family members,
and 25 % are sporadic.
Abstracted from Wityk et al. ( 2002 )
56
19.4 Pathology
In two genes FBN1 (causing MFS1) and TGFBR2 (MFS2) have been associated
with MFS. Wityk et al. have studied the neurovascular complications of MFS, which
is the principal source of this paper. We will forgo the cerebral complications and
focus on the spinal cord. In medium and large sized arteries defects in fi brillation
are associated with disruption of the elastic fi bers predisposing to arterial aneurysms and arterial dissection, which cause brain and spinal cord ischemia (10–20 %)
of patients with MFS. The possible causes of ischemia are:
• Arterial dissection reading the spinal arteries
• Hemorrhage due to anticoagulants
• Embolism from prosthetic valves and arterial fribrillation.
19.5 Clinical Picture
Infarction or compression of the cord results in paraplegia with sensory-motor defi cits and sphincteric dysfunction. The patient has typical MFS and most probably
family history (75 %).
19.6 Diagnosis
Diagnosis is based on the following criteria:
1. Family history
2. Clinical picture
3. Paresis and sensory defi cit
4. Cardiovascular abnormalities
Angiography should be performed if safe
19.7 Management
• Vascular management e.g., grafting for dissecting aneurysm
• Anticoagulation for embolism or thrombosis
• Spinal cord infarct is not reversible
• Compression by hematoma may need decompression
Reference
Wityk RJ, Zanferrari C, Oppenheimer S. Neurovascular complications of marfan syndrome: a
retrospective, hospital-based study. Stroke. 2002;33(3):680–4.
19 Ischemic Myelopathy Due to Marfan’s Syndrome
57
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_20
2 0
Myelopathy in Neurocutatneous Melanosis
20.1 Definition
The neural crest is the common embryonic origin of both the melanotic cells of the
skin and the leptomeninges. According to these authors neurocutaneous melanosis
(NCM) is a congenital syndrome characterized by the development of congenital
melanocytic naevi and benign or malignant melanotic tumors of the CNS. NCM is
considered a rare complication of giant congenital meano-cytic-naevus (GCMN).
20.2 Incidence
The risk of developing benign or malignant melanotic tumors in carries of GCMN
is unknown; just over 100 cases were reported (2001). Involvement of the brain will
not be discussed. Myelopathy is the subject of this presentation.
20.3 Etiology
NCM is thought to be due to an error in the embryogenesis of the embryological
neuroectoderm.
20.4 Pathology
There is melanotic pigmentation of the spinal arachnoid and adjacent leptomeninges. Cord compression is usually due to development of melanotic arachnoid cyst or
to direct infi ltration or syringomyelia. The chance of malignant progression and
Abstracted from Holmes et al. ( 2001 )
58
prognosis are unknown. Twenty percent of cases show or display widespread pigmentation and thickening of the full length of the spinal cord meninges. Malignant
transformation in the CNS is estimated to be up to 50 %.
20.5 Clinical Picture
Patients with GCMN on the extremities never develop NCM. Posterior axial nevi
are more subject to NCM. CNS involvement excluding intracranial lesions may be
asymptomatic. Cord compression or infi ltration will give the picture of myelopathy.
Radicular syndrome is also common.
20.6 Diagnosis
Diagnosis is based on:
1. Congenital nevi
2. Neurological fi ndings
3. MRI: for symptomatic patients and all asymptomatic patients with large multiple
lesions of the head and neck or lesions of the posterior midline.
20.7 Management
Close observation of these lesions regularly by the dermatologist. There is no therapy for leptomeningial melanotic changes. Space occupying lesions may be
approached neurosurgically.
Reference
Holmes G, Wines N, Ryman W. Giant congential melanocytic naevus and symptomatic thoracic
arachnoid cyst. Australas J Dermatol. 2001;42(2):124–8.
20 Myelopathy in Neurocutatneous Melanosis
59
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_21
2 1
Myelopathy in Osteogenesis Imperfecta
21.1 Definition
Osteogenesis imperfecta (OI) is heterogeneous group of congenital disorders of collagen synthesis, characterized by generalized osteoporosis and multiple fractures. It
is caused by a genetic mutation in abnormal production of type-I collagen. The
major clinical characteristics of OI:
• osteopenia
• bone fragility (fragilitas ossium)
• blue sclera
• dentinogenesis imperfecta
• short stature
• loss of hearing
There are seven major types of OI. The classifi cation is based on disease severity
and progression. However, the disease is presented as a continuum and it is hard to
put any patient in a certain category. Also patients of the same category may have
different histological pictures. Of the seven types of OI, types V, VI, and VII are not
associated with type-I collagen defects. More details about genetics can be seen in
the article by Roughley, Rauch, and Glorieux.
21.2 Incidence
OI may affect more than 1:10,000 individuals
Abstracted from Daivajna et al. ( 2005 )
60
21.3 Etiology
The hereditary trait is usually transmitted as an autosomal dominant with variable
expressivity. As to the cause of the deformity, poor bone mass, fractures, laxity of
ligaments, microfractures of the growth plate will result in a congenital
hemi-vertebrae.
21.4 Pathology
Microscopically the cortical is thin to the point of porosity. As to the cancellous
trabeculæ, they are slender, delicate, widely separated, and few in number. Few
osteoblasts can be seen; osteocytes are crowded together by virtue of a lake of intervening matrix. The collagen fi bers of the bone are thinner than normal and the collagen bundles have different dimensions. Wedged vertebra may be associated with
disordered growth of the compressed vertebra.
21.5 Clinical Picture
Intrauterine death may occur due to fractures and hemorrhage or shortly thereafter.
Survivors have a slower rate of growth and are libel to fractures in different sites.
The picture of the patient has characteristics mentioned above; in addition, the neck
is short and the skull is deformed. The skull may be so incomplete that it is a mere
membranous bag or few boney plates; further ossifi cation may present a large number of Wormian bones. There may be hydrocephalus. Deformities of the spine are
usually are thoracolumbar kyphosis, scoliosis, cervical spondyloptosis, and rarely
cervical kyphosis or loss of the cervical lordosis. As a result of the deformities craniocervical regions deformities develop as complications, namely, basilar impression (vertebral basilar invagination), atlantoaxial dislocation, and syringomyelia
caused by obstruction of cerebral spinal fl uid (CSF) outfl ow caused by basilar
impression. The basilar impression may be caused by brainstem compression. In
some cases atlantoaxial dislocation may lead to compression myelopathy upper
motor tetraparesis. These defi cits are exaggerated by myelopathy.
21.6 Diagnosis
In some cases, an ultrasound can identify bone abnormalities at 14–18 weeks. Cells
obtained through chorionic villus sampling or amniocentesis can also be analyzed
for a genetic mutation. Diagnosing OI is primarily a clinical process. It is often diffi cult or inconclusive without a physician familiar with the disorder.
21 Myelopathy in Osteogenesis Imperfecta
61
21.7 Management
Currently, as a consequence of improved understanding of the molecular mechanisms of OI, medical treatments aimed at increasing bone mass and strength are
gaining popularity, and surgery is reserved for functional improvement. Surgery
remains a pillar of treatment for patients with OI, but it should be performed only if
it is likely to improve function and only if the treatment goals are clear. Surgical
interventions include intramedullary rod placement, surgery to manage basilar
impression, and correction of scoliosis.
Reference
Daivajna S, Jones A, Hossein Mehdian SM. Surgical management of severe cervical kyphosis with
myelopathy in osteogenesis imperfecta: a case report. Spine. 2005;30(7):E191–4.
Reference
63
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_22
2 2
Prader-Willi Syndrome
22.1 Definition
Prader-Willi syndrome (PWS) is a congenital condition due to loss of part or all of
chromosome 15; specifi cally, the chromosome 15 from the father. It is characterized
by hypotonia, hypogonadism, hypomentia, and obesity for which the acronym
HHHO is given. It is usually associated with scoliosis, rarely kyphosis and spinal
stenosis.
22.2 Incidence
Myelopathy due to PWS is very rare. Kyphosis has been described in 1991.
22.3 Etiology
PWS is a congenital condition due to partial or total loss of chromosome-15 from
the father.
22.4 Pathology
Spinal cord compression is due to kyphosis, developmental stenosis, and dynamic
factors (hypotonia or atonia) may include the etiological factors for myelopathy.
Kyphosis itself is probably due to cervical muscles hypotonic and heaviness of the
head. Hypotonia, mental retardation, and obesity may account for minor trauma,
which may trigger the myelopathy to be manifested clinically.
Abstracted and reported by Tsuji et al. ( 1991 )