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Show Sneddon Syndrome Presenting With Unilateral Third Cranial Nerve Palsy David Jiménez-Gallo, MD, Cristina Albarrán-Planelles, MD, Mario Linares- Barrios, PhD, MD, Julio A. González-Fernández, PhD, MD, Raúl Espinosa-Rosso, MD, José M. Báez-Perea, PhD, MD Abstract: Sneddon syndrome is a rare systemic vasculopathy affecting the skin as livedo racemosa and the central nervous system as stroke. A 31-year-old man with a history of livedo racemosa presented with a partial left third nerve palsy. Skin biopsy showed signs of endotheliitis with obliteration of dermal blood vessels due to intimal proliferation and fibrin thrombi consistent with Sneddon syndrome. The patient was treated with platelet antiaggregant therapy with complete resolution of his third nerve palsy. Clinicians should be aware of Sneddon syndrome because prompt diagnosis and treat-ment may prevent potential morbidity and mortality. Journal of Neuro-Ophthalmology 2014;34:50-52 doi: 10.1097/WNO.0b013e3182a3060d © 2013 by North American Neuro-Ophthalmology Society Sneddon syndrome (SS) is a rare systemic vasculopathy affecting the skin as livedo racemosa (LR) and the cen-tral nervous system as stroke. It predominantly affects young women, and neurological involvement usually appears years after the appearance of skin findings (1,2). Definitive diagnosis requires correlation of clinical symp-toms with skin histopathology. It is essential to make an early diagnosis of SS and begin anticoagulant or antiplatelet treatment promptly to reduce the morbidity and mortality of this disorder (3). CASE REPORT A 31-year-old man, with an unremarkable medical history, came to the emergency department with sudden onset of left eyelid ptosis and diplopia. He denied fever, headache, and eye pain but reported purple spots on the skin of his legs and trunk of 4-year duration. Skin lesions were accompanied by ulceration in distal areas of both lower limbs. There was no family history of similar skin lesions. The patient had ptosis of the left eye and limited eye movement consistent with a third nerve palsy. Visual acuity, pupils, slit-lamp examination, and funduscopy were normal. The skin on the patient's trunk and legs showed a reticulated pattern with irregular and open trabeculae. There were ulcer-ations in the distal third of both lower limbs (Fig. 1). The remainder of the physical and neurological examinations were normal. Laboratory testing included complete blood count, serum chemistries, thyroid panel, protein immunoglobulin and complement levels, and hypercoagulability studies that were all normal. Autoimmunity studies, including antinuclear antibody, anti-neutrophil cytoplasm, cryoglobulins, anti- DNA, anti-Sm, anti-Ro, anti-La, anti-RNP, anti-citrullinated peptide, anti-mitochondrial, and anti-phospholipid antibod-ies, were negative. Serological analysis for hepatitis B virus, hepatitis C, human immunodeficiency virus, syphilis, and FIG. 1. Livedo racemosa affecting the lower limbs. Inset: cribiform ulceration in the distal third of the left leg. Departments of Dermatology (DJG, CAP, MLB), Neurology (RER), and Pathology (JMBP), Puerta del Mar University Hospital, Cadiz, Spain. The authors report no conflicts of interest. Address correspondence to David Jiménez-Gallo, MD, Department of Dermatology, Puerta del Mar University Hospital, Ana de Viya Avenue 21, Cadiz, Andalusia 11009, Spain; E-mail: davidjimenezgallo@gmail.com 50 Jiménez-Gallo et al: J Neuro-Ophthalmol 2014; 34: 50-52 Clinical Observation Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. borrelia was negative. Unremarkable imaging studies included chest x-ray, abdominal ultrasound, echocardiogra-phy, single photon emission computed tomography, and magnetic resonance angiography of the brain. Examination of the cerebrospinal fluid was normal. Skin biopsy was taken from the edge of one of the leg ulcers. Histopathological findings included signs of endotheliitis and obliteration of the lumen of dermal blood vessels due to intimal proliferation and fibrin thrombi, with no signs of vasculitis (Fig. 2). Correlating the neurological symptoms (third nerve palsy), the presence of LR, the negative studies for autoimmune and infectious causes, and pathological findings on skin biopsy, we reached the diagnosis of SS. We began treatment with acetylsalicylic acid, 300 mg/day. No new neurological symp-toms developed in 2 years of follow-up and the skin ulcerations resolved. The patient's third nerve palsy completely recovered within 3 months. DISCUSSION SS is a rare systemic, progressive, noninflammatory vascul-opathy, characterized by the presence of generalized LR and cerebrovascular symptoms due to involvement of small- and medium-sized skin and brain blood vessels (1,4). This asso-ciation was first described in a patient by Champion and Rook (5) and, in 1965, Sneddon (6) documented these find-ings in 6 additional patients. The incidence is 4 cases/ 1,000,000/y with a mortality of approximately 9.5% (3). The disease is more common in women aged 20-40 years (2) and appears spontaneously (7). When SS appears in men, it usually occurs at a later age (7). Isolated familial cases have been reported, suggesting a genetic predisposition (6). Neurological involvement typically appears after the onset of livedo racemosa. Findings include headache, dizziness, seizures, and progressive dementia (8). The most common neurological manifestations are transient ischemic attack and stroke usually affecting the middle cerebral artery. Reported ophthalmologic complications include central retinal artery occlusion, central retinal vein occlusion, retinal neovasculariza-tion, homonymous visual field defects, and internuclear ophthalmoloplegia (9-13). The pathogenesis of SS is not fully understood and its association with autoimmune disease, such as primary anti-phospholipid antibody syndrome, systemic lupus erythe-matosus, and hypercoagulable states, such as mutation in the factor V Leiden, is in dispute (1). Skin biopsy is useful for the diagnosis, although it may require multiple biopsies to reach a diagnostic yield of 80%. The biopsy should be performed in the central area of the LR reticle. Histologic findings are endotheliitis, vascular occlusion by fibrin thrombi, and the proliferation of the intima and media without evidence of vasculitis primarily involving arteries of the reticular dermis (7,14). The differ-ential diagnosis of SS includes anti-phospholipid antibody syndrome, multiple sclerosis, coagulopathy, and infectious conditions, such as syphilis and Lyme disease (3). Forty to fifty percent of patients with SS have positive anti-phospholipid antibodies (15). If they are negative, plate-let antiaggregant therapy is indicated, and if positive, the patient should be anticoagulated. Cardiovascular risk factors should be treated and the patient should avoid tobacco use and oral contraceptives (3). The efficacy of immunosuppres-sive therapy is controversial (1). Our patient with SS developed the microvascular com-plication of a third nerve palsy. It is essential that SS be recognized and treated appropriately to avoid more severe vascular involvement that can be life-threatening. REFERENCES 1. Kreuter A, Sommer A, Stucker M, Altmeyer P. Painful unusual ulcers of the ankle. Clinic Exp Dermatol. 2008;33:377-379. 2. Hannon PM, Kuo SH, Strutt AM, York MK, Kass JS. Improvement of neurological symptoms and memory and emotional status in a case of seronegative Sneddon syndrome with cyclophosphamide. Clin Neurol Neurosurg. 2010;122:544-547. 3. Wohlrab J, Francs C, Sullivan KE. Strange symptoms in Sneddons syndrome. Clin Immunol. 2006;119:13-15. FIG. 2. Histology of skin biopsy at the edge of the ulcer. A. Fibrin thrombus in a dermal blood vessel (hematoxylin and eosin, · 200). B. Endotheliitis and intimal proliferation (hematoxylin and eosin, · 600). Jiménez-Gallo et al: J Neuro-Ophthalmol 2014; 34: 50-52 51 Clinical Observation Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. 4. Cavestro C, Richetta L, Pedemonte E, Asteggiano G. Sneddons syndrome presenting with severe disabling bilateral headache. J Headache Pain. 2009;10:211-213. 5. Champion RH, Rook A. Livedo reticularis. Proc R Soc Med. 1960;53:961-962. 6. Sneddon IB. Cerebro-vascular lesions and livedo reticularis. Br J Dermatol. 1965;77:180-195. 7. Valls L, Gonzlez M, Polo I, Rivera R, Vanaclocha F. Sindrome de Sneddon. Med Cutan Iber Lat Am. 2010;38:37-40. 8. Boesch SM, Plorer AL, Aver AJ, Poewe W, Aichner FT, Felber SR, Sepp NT. The natural course of Sneddon syndrome: clinical and magnetic resonance imaging findings in a prospective six year observational study. J Neurol Neuosurg Psychiatry. 2003;75:542-544. 9. Pauranik A, Parwani S, Jain S. Simultaneous bilateral central retinal arterial occlusion in a patient with Sneddon syndrome: case history. Angiology. 1987;38:158-163. 10. Aggermann T, Haas P, Binder S. Central retinal vein occlusion as a possible presenting manifestation of Sneddon syndrome. J Neuroophthalmol. 2007;27:240-241. 11. Gobert A. Sneddons syndrome with bilateral peripheral retinal neovascularization. Bull Soc Belge Ophthalmol. 1995;255:85-90. 12. Narbay G. Sneddons syndrome in a patient with homonymous hemianopia with macular sparing. Bull Soc Belge Ophthalmol. 1996;263:103-107. 13. Rehany U, Kassif Y, Rumelt S. Sneddons syndrome: neuro-ophthalmologic manifestations in a possible autosomal recessive pattern. Neurology. 1998;51:1185-1187. 14. Gonzlez Vilas D, Garcia Gavin J, Snchez-Aguilar D, Toribio J. Valor de la biopsia cutnea en el syndrome de Sneddon. Med Clin (Barc). 2010;135:44. 15. Bayrakli F, Erkek E, Kurtuncu M, Ozgen S. Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. World Neurosurg. 2010;73:411-413. 52 Jiménez-Gallo et al: J Neuro-Ophthalmol 2014; 34: 50-52 Clinical Observation Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. |
