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Video Report Nystagmus, opsoclonus and Adie's pupil in a patient with Sjögren's syndrome. Edwina L Berman, Kimberly P Tan, and Colin C ChanDepartment of Ophthalmology, Royal North Shore Hospital, St Leonards, NSW, Australia
Correspondence: Dr Edwina L Berman Date of acceptance: 14th November 2006 |
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A 30 year old female with a 6 month history of blurred vision, arthralgia, dry eyes and mouth displays abnormal eye movements. Pendular horizontal nystagmus was present as a constant component. The video demonstrates a background of nystagmus, both horizontal and upbeat with mixed bursts of large amplitude back to back saccades: short bursts are seen in this video segment but often lasted clinically for more than 10 seconds. Intermittent bursts of ocular flutter and opsoclonus were brought out by attempted accomodation on a near target. Both pupils were markedly dilated and had no reaction to light. |
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[View Video: Fast connection] Note: This video is best viewed in Quicktime Introduction Primary Sjögren's syndrome is an autoimmune epithelitis characterised by lymphocytic infiltration of exocrine glands and epithelia in multiple sites. The hallmark features of xerostomia and xerophthalmia are due to the involvement of the salivary and lacrimal glands. One third of patients present with extraglandular manifestations.[1] Autonomic nervous system involvement, such as Adie's pupil, and involvement of the central nervous system have previously been discussed as features of Sjögren's syndrome but their prevalence is currently undetermined.[2,3] In a series of 25 patients with primary Sjögren's syndrome, 17% were reported to have central neurological manifestations[2] but other reports of prevalence have ranged from 0-60%.[1] Nystagmus has rarely been described in association with Sjögren's syndrome. Opsoclonus has not been reported as an association of Sjögren's syndrome or other autoimmune diseases. We present a case of nystagmus, opsoclonus and Adie's pupils in a patient with primary Sjögren's syndromebr> Case Report A 30 year old woman presented with a 6 month history of blurred vision and episodes of abnormal eye movements. Associated symptoms over the last 6 months included dry eyes and mouth, diarrhoea, weight loss and intermittent arthralgia. On examination she was noted to have bilateral partial ptosis. Both pupils were markedly dilated and had no reaction to light. Visual acuity was 6/6 in both eyes. Pendular horizontal nystagmus was present as a constant component with mixed bursts of large amplitude back to back saccades lasting for more than10 seconds. She demonstrated intermittent bursts of ocular flutter and opsoclonus, which could also be brought out consistently with attempted accommodation on a near target. The episodes of opsoclonus could be prolonged even without an accomodating drive. Both pupils constricted to dilute 0.125% pilocarpine supporting the diagnosis of bilateral Adie's pupils. Fundoscopy and visual field examination were normal. Slit lamp examination demonstrated a dysfunctional ocular surface with punctate staining and tear deficiency. There were no vermiform movements seen. Schirmer’s test was positive at 2mm at 5 minutes confirming xerophthalmia. Xerostomia associated with the presence of dental caries was noted. Lower limb reflexes were normal. Routine haematological and biochemical tests were within the normal range. Autoantibodies against Ro (SS-A) were detected. Immunoglobulin levels were normal. Lumbar puncture and cerebral magnetic resonance imaging were normal. Electromyography and nerve conduction studies detected a mild mixed neuropathy of the right peroneal nerve. A six month trial of hydroxychloroquine was commenced. After one month's treatment the patient demonstrated a dramatic improvement in the abnormal eye movements and the xerostomia but there was no change to the Adie's pupils or xerophthalmia. Schirmer’s test was positive at 2mm and inferior punctate erosions on the cornea were present. After follow-up of 2 years, from the time of presentation, the abnormal eye movements were completely resolved, the xerostomia had greatly improved but the xerophthalmia remained unchanged. Discussion This patient fulfills the criteria for a diagnosis of primary Sjögren's syndrome. The pathogenesis of Adie's pupil in primary Sjögren's syndrome was previously thought to be due to a lymphocytic infiltration of the ciliary ganglion, however recently it has been proposed that autoantibodies act as antagonists at the M3-muscarinic receptor and interfere with parasympathetic transmission to smooth muscle.[4,5] M3-muscarinic receptors have a role in mediating the secretomotor effects of acetylcholine. Autoantibodies to the M3-muscarinic receptors have been postulated as responsible for all features of autonomic dysfunction associated with Sjögren's syndrome including Adie's pupils, blood pressure instability, anhidrosis, constipation and urinary retention.[5] In adults, acquired pendular nystagmus is a feature of brainstem disease, usually multiple sclerosis, stroke or tumour. The nystagmus noted in our patient may have represented a lesion in the brainstem but a lesion was not detected by cerebral magnetic resonance imaging. Lesions have been reported in the cerebrum, basal ganglia, cerebellum and brainstem in Sjögren's syndrome but there is often an absence of correlation between the clinical findings and the results of imaging or cerebrospinal fluid analysis. These investigations may be normal or show non-specific abnormalities in patients with clinical evidence of brain lesions.[2,3] The pathogenesis of central nervous system involvement in Sjögren's syndrome has not been well delineated. A proposed mechanism is small vessel vasculitis mediated by anti-Ro antibodies which results in brain perfusion abnormalities rather than permanent structural changes.[1] A study of 16 patients with Sjogren’s syndrome and neurological manifestations by Kao et al.[6] found abnormal results on single photon emission computed tomography (SPECT) scans in 81% despite normal brain magnetic resonance imaging. Anti-Ro antibodies were present in our patient however a SPECT scan was not performed but may have been useful. A disturbance of active saccadic suppression by the pontine omnipause neurons has been a postulated mechanism for opsoclonus. Opsoclonus has been associated with encephalitis and paraneoplastic syndromes but is previously unreported in the literature as an association of autoimmune diseases such as Sjögren's syndrome. Our patient demonstrated her ocular flutter and opsoclonus intermittently but these signs were consistently brought out with accomodation and convergence on a near target. Adie's pupils disturb accomodation at the level of the ciliary nerves. The mechanism of our patients' opsoclonus being exacerbated by fixing on a near target is not clear, but we postulate a disturbance of the midbrain input to the pontine pause neurons. Voluntary flutter is known to usually manifest with a conscious convergence effort. Hydroxychloroquine has been shown to improve the immunological markers of Sjögren's syndrome. Proposed mechanisms include interference of antigen processing, inhibition of proinflammatory cytokines and inhibtion of glandular cholinesterase activity.[7] In summary, we present a case of pendular nystagmus, opsoclonus and bilateral Adie's pupils in a patient with primary Sjögren's syndrome which adds to the knowledge about neurological involvement in Sjögren's syndrome. The prevalence and pathogenesis of central nervous system involvement is a controversial and as yet unresolved topic. This case is clinically relevant as the neurological manifestations of this disease often present before a diagnosis of Sjögren's syndrome is made. Conflict of Interest Statement There has been no financial support or relationships that may pose a conflict of interest for any of the authors.
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