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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_6042_Библиотеки_им_академика_М_И_Перельмана.pdf
99
cases of coeliac disease. Vitamin B12 levels may be reduced as they were in patients
who had gastrectomy or gastric bypass, or terminal bowel resection for Crohn’s
disease.
32.6 Prognosis
Once the diagnosis is made, copper supplementation improves the condition and
prevents deterioration of spinal cord. The degree of improvement is variable especially in the position and vibration perception. Somatosensory evoked potentials
show variable degree of central conduction improvement. Nerve conduction studies
may show improvement or may be unchanged. The chemical studies, especially
copper and zinc levels show improvement.
32.7 Management
The medical treatment for copper defi ciency is intravenous (IV) 2 mg cupric sulfate;
if there is no improvement another course of IV 2 mg/dL ceruloplasmin. Vitamin
B12 may be added if the serum level is low. Clinically, the impairment of parathesia,
perception of touch and pinprick sense of position, ataxia and gait, all seem to
improve in physical therapy and rehabilitation.
Reference
Kumar N, Crum B, Petersen RC, Vernino SA, Ahlskog JE. Copper defi ciency myelopathy. Arch
Neurol. 2004;61(5):762–6.
Reference
101
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_33
3 3
Diabetic Myelopathy
33.1 Definition
Diabetic myelopathy is a condition, which pathological changes occur in the spinal
cord as a result as a result of diabetes mellitus.
33.2 Incidence
Major long-term complications of diabetes mellitus include neuropathy, retinopathy, nephropathy, and angiopathy. Peripheral neuropathy is the commonest chronic
complication. In the CNS there is a two to sixfold incidence of cerebrovascular
disease in diabetes than non-diabetes. Stroke related morbidity and mortality are
increasing in the diabetic population. Diabetic myelopathy has not been assessed
clinically in diabetic patients.
33.3 Etiology and Pathology
The pathogenesis of peripheral neuropathy (PNP) remains poorly understood. It is
suggested to be due to metabolic changes, such as hyperglycemia and vascular
changes (micro-angiopathy). Most of the clinical research has concentrated on the
structural and functional aspects of the peripheral nerves. However, potentially
important area of research is the spinal cord. There is some evidence from autopsy
studies and neurophysiological studies that the peripheral nerves and the spinal cord
may be affected by the pathogenic factors from the generalized disease e.g. diabetes
mellitus. A common observation is that electric stimulation of the spinal cord does
not control the neuropathy. This may suggest involvement of the cord.
Collateral evidence comes from two works:
1. Autopsy studies by Slager showed: Posterior column demyelination in 27 % of
cases. She considered these changes are due to a common metabolic or toxic
effect to both the peripheral nerves and to the spinal cord. Spinal cord infarcts
Abstracted from multiple sources
102
were found in 19 % secondary to arteriopathy of the intrinsic vessels of the spinal
cord. These changes had a predilection to white matter and are commoner in
diabetics that non-diabetics and unrelated to age. The author found diabetic
myelopathy in 42 % of 37 autopsies.
2. MRI fi ndings: Eaton et al., have measured cross sectional area of these regions
of the spinal cord including the cervical and lumbar enlargements. In patients
with distal symmetrical polyneuropathy (DSP) the spinal cord cross sectional
area was signifi cantly reduced in 2 of the 3 regions compared with the controls.
From this pilot study the data were consistent with contributory spinal cord
pathology in DSP. The authors stated signifi cant differences in mean cord area
found at the levels of C4–5 and T3–4. Whether spinal cord involvement is pri-
mary or secondary event in DSP is unclear. One possibility is that damage to the
peripheral nerves causes the cord to die back. The other possibility is that the
primary damage starts in the spinal cord. However, the necropsy fi ndings show
microangiopathy in both the spinal cord as well as the peripheral nerves indicat-
ing a common pathogenic mechanism.
33.4 Clinical Picture
There is no typical picture of diabetic myelopathy since the predominant picture is
that of peripheral neuropathy, especially distal symmetrical polyneuropathy.
33.5 Diagnosis
Diagnosis is based on the following criteria:
1. History
2. Clinical picture: sensory loss of different modalities, trophic changes in the skin,
motor weakness, muscle atrophy, osteoporosis and diabetic arthropathy, and vas-
cular insuffi ciency
3. Laboratory tests: nerve induction studies, general metabolic assessment (GMA)
evoked potentials, ultrasonography, peripheral nerve biopsy
4. MRI of the spinal cord: rule out myelopathy
33.6 Management
• Medical management of diabetes
• No specifi c treatment yet available for disseminated peripheral neuropathy.
Management can be found in textbooks on diabetes and endocrinology
33 Diabetic Myelopathy
103
Suggested Reading
Meiners T. Sequelae of diabetes mellitus in the vertebral column and spinal cord. Orthopade.
2003;32(3):236–40.
Prick JJ, Prevo RL, Hoogenraad TU. Transient myelopathy of the cervical posterior columns in a
young man with recently diagnosed diabetes mellitus. Clin Neurol Neurosurg.
2001;103(4):234–7.
Selvarajah D, Wilkinson ID, Emery CJ, et al. Early involvement of the spinal cord in diabetic
peripheral neuropathy. Diabetes Care. 2006;29(12):2664–9.
Seo JH, Park SH. Diabetic cervical radiculopathy with adhesive capsulitis of the shoulder. Yonsei
Med J. 2003;44(6):1114–8.
Suggested Reading
105
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_34
3 4
Cervical Myelomalacia in Laron Syndrome
34.1 Definition
Laron Syndrome (LS) is characterized by inability to respond normally to growth
hormone of endogenous or exogenous origin (Laron et al. 1993 ). Most growth hor-
mone effects are mediated by insulin-like growth factor 1 (IGF-1), which is the
anabolic effector hormone of the pituitary growth hormone. In LS a defi cit occurs in
the growth hormone receptor gene or the post-receptor pathways, resulting in
defects in growth hormone signal transmission and thereby in a failure to generate
IGF-1 (Laron et al. 1993 ). Patients have therefore high serum growth hormone but
undetectable IFG-1.
34.2 Incidence
LS was fi rst described in 1966 and in 1968 in a group of Oriental Jewish patients.
Since then 100 of patients have been reported worldwide, mostly of Mid-Eastern
origin (Kornreich et al. 2002 , 2008 ). These authors in a study of 11 patients found
cervical focal myelomalacia at C1 in two patients, an incidence less than 20 %.
34.3 Etiology
LS is an autosomal recessive disease caused by deletions or mutations in the growth
hormone receptor gene or the post-receptor pathways resulting in defects in growth
hormone signal transmission and, thereby inability to generate IGF-1, which is
effector hormone of the pituitary growth hormone. The patients will fail to respond
to growth hormone of endogenous or exogenous source.
34.4 Pathology
The disease is due to pathophysiology, based on genetic delinquency.
Abstracted and reported by Kornreich et al. ( 2002 , 2008 ).
106
34.5 Clinical Picture
• There is a progressive dwarfi sm with fi nal stature from 3′6″ to 4′5″ in women
and 3′10″ to 4′8″ in men.
• Acromicria and organomicria
• Small genitalia and gonads
• Craniofacial abnormalties:
– Subnormal head circumference
– Underdevelopment of facial bones
– High pitched voice in children and many adults
– Adults become obese and have hypercholesteremia and insulin resistance
– Although sexual maturity is retarded they eventually have reproductive
ability
– The mediolateral diameter of the oropharynx is much smaller than the normal
and patients frequently have sleep apnea
34.6 Diagnosis
Diagnosis is based on the following criteria:
1. Morphology of the patient
2. Radiography: Cervical spine shows signifi cant narrowing of the spinal canal
associated with abnormalities of the dens, degenerative changes of the atlanto-
odontoid joint. It shows smaller dimensions of the oropharynx. Spinal stenosis is
common fi nding in the cervical spine due to retarded bone mutation, due to
growth hormone insensitivity. This syndrome places the patient at greater risk of
neurological defi cit at the occurrence of degenerative disk disease and spondy-
litic changes (Kornreich et al. 2002 , 2008 ) in one of their patients a disk bulge
with compression of the thecal sac was evident at the age of 36.
3. MRI of the spinal cord: Sagittal T2-weighted images show spinal stenosis of the
cervical spine. Multiple bulging disks may show compression of the thecal sac.
Anomalies of the dens may be seen and may be compatible with os odontoi-
deum. The atlanto-axial joint may show osteoarthritis.
4. Biochemical assay: There is a high serum level of growth factor and undetectable
serum IGF-1.
34.7 Management
IGF-1 replacement therapy at the early age before skeletal changes and possibly
cord compression. Subsequent changes are to be treated accordingly, e.g. orthopedic treatment.
34 Cervical Myelomalacia in Laron Syndrome
107
References
Kornreich L, Konen O, Schwarz M, et al. Abnormalities of the axial and proximal appendicular
skeleton in adults with Laron syndrome (growth hormone insensitivity). Skeletal Radiol.
2008;37(2):153–60.
Kornreich L, Horev G, Schwarz M, Karmazyn B, Laron Z. Laron syndrome abnormalities: spinal
stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oro-
pharynx. AJNR Am J Neuroradiol. 2002;23(4):625–31.
Laron Z, Klinger B, Eshet R, Kaneti H, Karasik A, Silbergeld A. Laron syndrome due to a post-
receptor defect: response to IGF-I treatment. Isr J Med Sci. 1993;29(12):757–63.
References
109
© Springer International Publishing Switzerland 2016
I.M. Eltorai, Rare Diseases and Syndromes of the Spinal Cord,
DOI 10.1007/978-3-319-45147-3_35
3 5
Compression Myelopathy due to Tophaceous Gout
35.1 Definition
This is a condition of compression myelopathy secondary to gouty tophus, usually
associated with hyperuricemia, which is uncontrolled for a long time leading supersaturation of tissue fl uids.
35.2 Incidence
The fi rst case of compression myelopathy due to gouty tophus was recorded in 1953
by Koskoff et al. Occasional similar cases have been reported since then. According
to Saketkoo et al., 125 cases have been reported.
35.3 Etiology
Although gouty polyarticular disease is not uncommon gouty spondylitis is rare and
it may be associated with intraspinal tophi. These consist of monosodium urate
crystals in chronic cases of gout with poor control of uricaemia.
35.4 Pathology
The intraspinal thophi may be extradural and rarely intradural. The crystals form a
foreign body granuloma, consisting of multinucleated (giant cells) histiocyts, and
fi broblasts surrounding an amorphous acellular material uric acid level greater than
70 mgm/L results in deposition of urate especially in cooler avascular tissues such
as tendons. With chronic hyperuricemia internal organs, especially the kidneys leading to decreased clearance, especially with chronic renal failure, leukemia, lymphoma, hemolytic uremia and high dietary purines, alcohol intake. Such conditions
may be kept in mind if a compression myelopathy is detected. Any level of the
Abstracted from Saketkoo et al. ( 2009 )
110
spinal cord may be affected, the cervical, thoracic, lumbar, including the cauda
equina and the fi lum terminale.
35.5 Clinical Picture
The patient has history of gouty arthritis either peripheral or spinal. The onset may
be fever. Back pain in the form of radiculopathy; neurological symptoms attributable to mass lesions may appear (parasethesias, anesthesia, motor weakness, paresis, paralysis, and sphincter disturbances). Peripheral arthritic thophi may be
detected (big toe, elbow, ear, etc). Occasionally, neurogenic claudication is the main
symptom.
35.6 Diagnosis
Diagnosis based on:
1. Clinical picture
2. Neurological exam
3. Laboratory studies: hyperuricemia, high ESR, elevated CRP, metabolic changes,
BUN
4. Aspiration of tophus for urate crystal CT guided
5. Gadolinium MRI amy show extradural or occasionally a calcifi ed shadow on T2
weighted images can show an enhancing lesion
Plain x-ray may be negative. Should be differentiated from other space occupying lesions, epidural abscess, hematoma, neoplasia, diskitis, osteomyelitis
35.7 Management
Surgery consists of:
1. Laminectomy with or without stabilization. However, suppression of serum
urate with allupurinal.
May arrest the pathological deposition of uric acid with possible regression of
the tophi and possible successful non-surgical treatment, but this should be not too
long to avoid further cord defi cit.
Reference
Saketkoo LA, Robertson HJ, Dyer HR, Virk ZU, Ferreyro HR, Espinoza LR. Axial gouty arthropa-
thy. Am J Med Sci. 2009;338(2):140–6.
35 Compression Myelopathy due to Tophaceous Gout
Part III
Iatrogenic