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We describe the case of a young woman with longstanding systemic sclerosis (SSc), who later developed multiple sclerosis (MS), and discuss the possible explanations for this rare co-occurrence.
A 30 year old white woman was admitted to the department of neurology of our institution with 10 days' history of vertigo and diplopia. A year earlier the patient had had an episode of paraesthesiae of her right leg, which resolved spontaneously within two to three weeks. Since the age of 22, she had been under the care of the rheumatology service of the same hospital for SSc, and her condition remained stable with treatment with d-penicillamine 500 mg daily and methylprednisolone 2 mg daily.
Clinical examination showed an alert woman with normal vital signs and typical appearance of scleroderma—that is, tightness and atrophy of the skin of her face and hands with contractions of her fingers. Examination of the lungs, heart, and abdomen showed no abnormality. Fundoscopy disclosed temporal pallor bilaterally. There was vertical nystagmus on upward gaze and diplopia on looking to the right, without apparent ophthalmoplegia. Deep tendon reflexes were brisk and abdominal reflexes were absent bilaterally. An extensor plantar response was seen on the right but no muscle weakness or sensory loss.
There was no evidence for keratoconjunctivitis sicca, as Schirmer's I, rose bengal, and break up time eye tests were normal. These had been performed routinely several times previously before the present admission. Furthermore, the patient had never complained of xerostomia.
Routine blood tests were normal. Serology showed positive antinuclear antibodies at a titre of 1/640, of the fine speckled pattern, and positive anti-Scl70 antibodies. Antibodies to cardiolipin and the other extractable nuclear antigens, including Ro(SSA), La(SSB), Sm, and nRNP, were absent, as they had been on several occasions in the past.
Visual evoked potentials were abnormal bilaterally. Cerebrospinal fluid (CSF) analysis disclosed increased intrathecal IgG synthesis (IgG index 0.88, normal <0.66) and oligoclonal bands. Magnetic resonance imaging (MRI) studies showed several abnormalities of the brain and the cervical cord (fig 1).
A five day trial of intravenous methylprednisolone 500 mg/day resulted in moderate relief of her symptoms and treatment was started with interferon β to prevent progression of the neurological process. At present, the patient has been receiving interferon β for two years and there is no evidence of any further neurological compromise.
One can suggest three possibilities for the coexistence of the neurological syndrome and the SSc in this patient. Firstly, MS occurring independently from SSc might account for the neurological deficits, given the laboratory findings and the patient's sex and age, and the prevalence of MS in the general population. However, it is also possible that there is an association between the two conditions, because MS, like SSc, is also believed to be autoimmune in nature, and the pathogenetic role of T cells is crucial in both processes.1 Furthermore, MS has been increasingly reported in association with other autoimmune diseases not primarily affecting the nervous system.2 If any of the above possibilities is present, the prognosis and therapeutic approach of our patient should match those of typical MS. The coexistence of SSc and MS is rare and, as far as we know, has been described in only four patients. Rapidly progressive and finally gripping MS developed in their early twenties, whereas SSc appeared later in the course of the MS in all four patients.3–5 Interestingly, unlike these cases, our patient presented in her thirties with a mild form of MS, several years after the onset of SSc.
A third possibility exists that, the neurological manifestations of this patient might have been part of her primary disease—that is, SSc. Involvement of the central nervous system (CNS) in this disease is considered uncommon, and secondary to vasculopathic damage.5,6 The fact that our patient had prolonged visual evoked potentials, suggestive of optic neuropathy, is rather in favour of MS, although this abnormality has been reported in SSc.7 On the other hand, a significant percentage of patients with systemic lupus erythematosus may present with CNS disease and, some of them with oligoclonal banding in the CSF.8 Brain or spinal cord disease, or both, with clinical features and laboratory findings indistinguishable from MS has been reported in Sjögren's syndrome too, although CNS involvement in this syndrome has been a matter of serious debate.9,10
In the absence of guidelines for the management of such patients, we considered our patient as a case of classical MS and, therefore, she was not deprived of the possible benefit of a disease modifying treatment, such as interferon β.
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