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Show Tournai of Clinical Neuro-ophthalmology 13(2): 141-143, 1993. Optic Neuritis Associated with Familial Mediterranean Fever A. Lossos, M.D., S. Eliashiv, M.D., E. Ben-Chetrit, M.D., and A. Reches, M. D. © 1993 Raven Press, Ltd., New York Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent attacks of fever and polyserositis of unknown origin. Neuro-ophthalmologic involvement is rare. We describe a previously unreported association of FMF with optic neuritis in two patients. Key Words: Optic neuritis-Periodic disease-Familial Mediterranean fever. From the Departments of Neurology (A.L., S.E., A.R.) and Internal Medicine (E. B.-C.), Hadassah Hebrew University Hospital, Jerusalem, Israel. Address correspondence and reprint requests to Dr. A. Lossos, Department of Neurology, Hadassah University Hospital, POB 12000, Ein Karem, Jerusalem 91120, Israel. 141 Familial Mediterranean fever (FMF), also known as periodic disease or recurrent polyserositis, is an autosomal recessive disorder primarily affecting individuals of non-Ashkenazi Jewish, Armenian, Turkish, and Arab families (1). The disease usually begins with fever followed by a self-limited episode of peritonitis, pleuritis, or synovitis. Less common manifestations include skin rash, myalgia, and splenomegaly, and some patients may develop systemic amyloidosis leading to chronic renal failure. Initial attacks appear in childhood or adolescence and recur at irregular intervals thereafter. Diagnosis of FMF is based on the clinical presentation and family history, since no pathognomonic laboratory test exists (1). Treatment with colchicine has been shown to reduce the attack rate and to prevent renal amyloidosis (2). Neurologic involvement in FMF has been rarely documented (1). We describe two patients with FMF who developed optic neuritis. CASE REPORTS Patientl A 24-year-old woman of Jewish-Moroccan extraction has been evaluated for painless left monocular visual loss, which developed over a few days. She had a la-year history of FMF manifested by recurrent attacks of abdominal pain and paroxysmal right shoulder arthritis, treated sporadically with colchicine 0.5 mg/day. Her family history was negative for any neurological disease and she denied smoking, alcohol, or drug abuse, On examination, her left eye visual acuity was reduced to 20/200, and a left relative afferent pupillary defect was identified. No optic disk pallor was present on ophthalmoscopy. Visual fields examination disclosed a left paracentral scotoma. The rest of her general and neurological examination was normal. A. LaSSOS ET AL. Routine blood evaluation was normal including erythrocyte sedimentation rate, acute phase reactants, serological tests for syphilis, Rose-Waaler and latex agglutination, antinuclear antibodies, and whole-blood vitamin B12 levels. Results of chest radiographs and lumbar puncture were normal, including the absence of oligoclonal cerebrospinal fluid bands. Visual evoked potentials (VEP) were significantly prolonged over the left eye. Brainstem auditory evoked potentials (BAEP) and magnetic resonance imaging (MRI) of the brain were normal. A retrobulbar neuritis was diagnosed, and a course of oral prednisone 60 mg daily was started, tapered down over a 2-week period. Colchicine 0.5 mg b.i.d. was reintroduced. The patient's visual acuity returned to normal, and her neurological follow-up has been unremarkable during the last 2 years. Patient 2 A 28-year-old man of Jewish-Kurdish extraction with an 8-year history of FMF treated with colchicine 0.5 mg t.i.d., was evaluated for a subacute right monocular blurring of vision that occurred 1 week following an attack of fever and abdominal pain. His right eye visual acuity was reduced to 20/40 with a decreased red color perception and an abnormal light brightness comparison test. Visual fields examination disclosed a right central scotoma, but no optic disk pallor was identified. The rest of his general and neurological examination was normal. Laboratory evaluation similar to the 1st patient was unremarkable. Right eye visual evoked potentials were prolonged. Brainstem auditory evoked potentials and brain CT were normal. The patient improved spontaneously over a few months with resolution of visual field defect, save a decrease in red color perception. No neurological abnormalities recurred over a 3-year followup. As in the first patient, no cases of optic neuritis were reported in his family. DISCUSSION Various ocular manifestations have been described in FMF, including colloidlike bodies, episcleritis, uveitis, and retinal detachment (1,3). Neurologic involvement is rare and consists of headaches, nonspecific electroencephalographic changes during attacks, and recurrent aseptic meningitis (1,4). An association with Mollaret's meningitis has been also documented (5). Since optic neuritis has not been previously reported J (1111 Nl'uro-ophlhalrnol, Vol. 13, No, 2, 1993 with FMF, and, however coincidental this association may be, it deserves some comments, FMF gene has been recently mapped to the short arm of chromosome 16 (6); however, it has not been yet cloned and its exact product is still unknown. Influx of polymorphonuclear leukocytes into the affected tissues during an attack, acute phase reactants overproduction and cutaneous vasculitis have implicated the immune system in the pathogenesis of FMF (7). In addition, relative bone marrow plasmacytosis, T-cell function abnormalities, circulating immune complexes and lymphocytotoxins have been described (7). Optic neuritis is associated with various immune-mediated disorders, such as Behcet's disease (8), Sjogren's syndrome (9), systemic lupus erythematosus, and nonspecific autoimmune abnormalities (10), This may suggest a possible link to FMF. The proximity of optic nerve involvement to a febrile attack in our second patient may either suggest a common basic disease process or represent Uhthoff's phenomenon. Colchicine has been reported to cause keratitis, peripheral neuropathy, and vacuolar myopathy (11). It may be also indirectly involved in neurological complications through an induction of vitamin B12 deficiency (12). However, no association with optic neuritis has been reported. Our patients had normal levels of whole-blood vitamin B12 and did not use any other drugs. Isolated optic neuritis may precede the development of clinically definite multiple sclerosis up to 15 years (13), and we cannot rule out this possibility, since our follow-up period is only about 3 years. Nevertheless, the lack of oligoclonal CSF bands and of additional clinical and paraclinical evidence (i.e., normal MRI in one patient and brainstem auditory evoked potentials in both) of disseminating neurological involvement does not support this diagnosis (14). REFERENCES 1. Eliakim M, Levi M, Ehrenfeld M. Recurrent polyserositis: familial Mediterranean fever, periodic disease. Amsterdam: Elsevier/North-Holland Biomedical Press: 1981. 2. Zemer D, Pras M, Sohar E, Modan M, Cabili 5, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 1986;314: 1001-5. 3. Hirsh A, Huna R, Ashkenazi I, Bartov E, Blumenthal M. Recurrent bilateral panuveitis and rhegmatogenous retinal detachment in a patient with familial Mediterranean fever. Am J OphthalmoI1990;110:702-3. 4. Schwabe AD, Monroe JB. Meningitis in familial Mediterranean fever. Am J Med 1988;85:715--17. 5. Barakat MH, Mustafa HI, Shakir RA. Mollaret's meningitis: a variant of recurrent hereditary polyserositis, both provoked by metaraminol. Arch NeuroI1988;45:926-7. OPTIC NEURITIS AND FMF 143 6. Pras E, Aksentijevich I, Gruberg L, et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 1992;326:1509-13. 7. Cook Gc. Periodic disease, recurrent polyserositis, familial Mediterranean fever, or simply "FMF." Q JMed 1986;60: 819-23. 8. Kansu T, Kirkali P, Kansu E, Zileli 1. Optic neuropathy in Behcet's disease. ! Clin Neurol Ophthalmol 1989;9:277--80. 9. Wise CM, Agudelo CA. Optic neuropathy as an initial manifestation of Sjogren's syndrome. ! Rheumatol 1988;15:799802 10. Kupersmith MJ, Burde RM, Warren FA, et al. Autoimmune optic neuropathy: evaluation and treatment. ! Neural Neurasurg Psychiatry 1988;51:1381--6. 11. Kuncl RW, Duncan G, Watson D, et al. Colchicine myopathy and neuropathy. N Engl! Med 1987;316:1562--8. 12. Palopoli JL Waxman J. Colchicine neuropathy or vitamin B12 deficiency neuropathy? N Engl! Med 1987;317:1290-1. 13. Rizzo JF, Lessell S. Risk of developing multiple sclerosis after uncomplicated optic neuritis: a long-term prospective study. Neurology 1988;38:185--90. 14. Martinelli Y, Comi G, Filippi M, et al. Paraclinical tests in acute-onset optic neuritis: basal data and results of a short follow-up. Acta Neural Scand 1991;84:231--6. / Gill Nellro-ophthalmol. Vol. 13. No.2. 1993 |
