International Journal of Rheumatic Diseases 2014; 17: 920–922

APLAR GRAND ROUND CASE

Moyamoya syndrome or Behcßet’s disease? A 28-year-old woman presented with involuntary movements on her right arm and leg that started 4 years ago and were periodical, recurring each autumn and lasting about 10 days. Her medical history revealed that she had recurrent (4–5 times/year) painful, oral ulcers and skin lesions for the last 3 years and physical examination showed the scar of a genital ulcer (Fig. 1a). She did not report any uveitis attack. The pathergy test was negative. The only abnormality on her neurological examination was cerebellar signs on the right. Brain magnetic resonance imaging (MRI) revealed multiple hyperintense punctate lesions predominantly located at the level of the cortico-subcortical junction in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images. There also was a dense contrast enhancement in the meningo-vasculer structures (Fig. 1b,c). Digital subtraction angiography demonstrated occlusion of the bilateral distal carotid arteries and basilar artery but a large basal vascular collateral circulation resulting in the smoke-like appearance suggestive of Moyamoya disease (Fig. 1d,e). Perfusion MRI showed relative diminished perfusion of the vascular area of the right posterior cerebral artery (Fig. 1e,f). Extensive laboratory tests, including studies for hypercoagulable states and infectious diseases, anti-cardiolipin antibodies, double-stranded DNA antibodies, SM antibodies, ribonucleoprotein antibodies, Sj€ ogren’s syndrome antigen (SSA) and SSB antibodies were unremarkable. Examination of cerebrospinal fluid (CSF) was normal, including opening pressure of 18 cm H2O, CSF protein (18.9 mg/dL), CSF glucose (65 mg/dL), immunoglobulin index (0.6), CSF microscopic evaluations and CSF cultures. The patient was consulted by a rheumatologist to exclude other vasculotides and autoimmune diseases. Complement levels, erythrocyte sedimentation rate and C-reactive protein levels were also normal. Antinuclear antibodies were positive with low titration (1/100), and human leukocyte antigen (HLA)B51 was positive, consistent with Behcßet’s disease. The patient was hospitalized during the diagnostic evaluations and the neurological complaints were totally resolved after bed rest and intravenous hydration of 2500 mL/day.

WHAT IS YOUR DIAGNOSIS? Moyamoya syndrome associated with Behcßets disease As described by Takaku in the 1960s, the term ‘moya moya’ means ‘wavering puff of smoke’. Moyamoya syndrome is a phenomenon occurring in various diseases which cause oligemic states.1 The clinical outcomes of these pathologic changes are related to the reduced cerebral blood flow resulting in transient ischemic attacks and ischemic stroke. These occlusions and the resulting ischemia cause fragile collaterals which can also bleed and cause intracranial hemorrhages.2 Moyamoya has been described in association with a variety of congenital and acquired disorders.3 The congenital disorders include hemoglobulinopathies, Down syndrome, neurofibromatosis and Robinow syndrome. Acquired disorders associated with moyamoya include vascular interruption, atherosclerosis, hemolytic uremic syndrome and lupus.3–5 To our knowledge, there are two reports of Moyamoya syndrome in association with Behcßet’s disease (BD).6,7 Both of the patients reported were young and female as in our case. One of the patients was diagnosed with BD 4 years earlier and the patient had the diagnosis of Moyamoya disease associated with BD after several transient ischemic attacks.7 The other patient’s complaints were transient ischemic attacks of left hemiparesis and episodic dizziness and she had the diagnosis of Moyamoya disease associated with BD at the same time.6 Both of these patients were treated with bypass surgery and the outcomes were perfect. In our case all her neurological complaints resolved with hydration therapy and bed rest. Behcßet’s disease is an inflammatory disorder, with recurrent attacks of acute multisystem vasculitis. Although it has distinct clinical diagnostic criteria, it may involve nearly every organ system.8,9 The disease affects many organs and systems, causing mucocutaneous lesions, uveitis, nervous system involvement, major vessel diseases, musculoskeletal problems, gastrointestinal involvement and so on.6 In our case diagnosis of BD was definite with the history of recurrent oral

© 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd

Postgraduate Quiz

(b)

(c)

(a)

(d)

(d)

(d)

(e)

(e)

Figure 1 (a) Genital ulcer scar on the right groin. (b, c) Brain magnetic resonance imaging (MRI), fluid-attenuated inversion recovery sequences (b) and T1-weighted images with contrast (c). (d) Digital subtraction angiography images, Moyamoya vessels and puff-of-smoke appearance. (e) Perfusion MRI image (pathological lesions are indicated by arrows).

apthous ulcers, genital ulcerations and skin lesions. Although the pathergy phenomenon was negative, this is a nonspecific hypersensitivity or hyperirritability reaction of the skin and its sensitivity varies largely between different ethnic and geographical groups, ranging between 20–80%.10 On the other hand, HLAB51, which is the most consistently reported HLA associated with BD, was positive in our case. Patients with BD may present with different neurological problems, related either directly or indirectly to the disease.6 Typical BD lesions are generally located within the brainstem, occasionally show an extension to the diencephalon and are less often within the periventricular and subcortical white matter. Arterial involvement resulting in central nervous system vascular disease is rare, consistent with systemic arterial involvement which is also infrequent in BD.2 Our patient’s cranial MRI showed hyperintense lesions which were predominantly within the cortico-subcortical junctions. This appearance is not expected to be seen in BD, and further imaging with perfusion MRI

International Journal of Rheumatic Diseases 2014; 17: 920–922

and digital subtraction angiography showed a pattern more typical for Moyamoya. According to the worldwide diagnostic criteria for Moyamoya,11 our case is not a definite case because we could not eliminate BD. So it is really hard to appoint the exact pathophysiological process in this case. To claim an incidental coexistence or an existence of similar pathology would only be a speculation. According to us, angiographic findings and clinical features are compatible with those of Moyamoya disease. In addition to this, it is well known that arterial vascular involvement of central nervous system disease in BD is very rare. Also, the absence of characteristic brain MRI findings of BD allowed us to think that this case as BD but not a neuro-BD. In conclusion, this case is the third case reporting the association between Moyamoya syndrome and Behcßet’s disease. It would be cautionary for the physician to be skeptical about other vascular pathologies in BD, especially when the clinical and radiologic findings are incompatible.

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Postgraduate Quiz

ACKNOWLEDGEMENT None. Eylem DEGIRMENCI,1 Levent Sinan BIR,1 Baki YAGCI,2 Bijen NAZLIEL3 and Aksel SIVA4 Departments of 1Neurology, 2Radiology, School of Medicine, Pamukkale University, Denizli, 3Department of Neurology, School of Medicine, Gazi University, Ankara, and 4Department of Neurology, Cerrahpasßa School of _ _ Medicine, Istanbul University, Istanbul, Turkey

REFERENCES 1 Manjunatha YC, Gupta AK (2011) Moyamoya disease. Indian J Pediatr 77, 817. 2 Calamia KT, Schirmer M, Melikoglu M (2011) Major vessel involvement in Behcßet’s disease: an update. Curr Opin Rheumatol 23, 24–31. 3 Buchbinder D, Steinberg G, Linetsky M, Casillas J (2010) Moyamoya in a child treated with interferon for recurrent osteosarcoma. J Pediatr Hematol Oncol 32, 476–8.

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4 Qaiser R, Scott RM, Smith ER (2009) Identification of an association between Robinow syndrome and moyamoya. Pediatr Neurosurg 45, 69–72. 5 Singla M, John E, Hidalgo G, Grewal D, Macmillan C (2008) Moyamoya vasculopathy in a child after hemolytic uremic syndrome: a possible etiopathogenesis. Neuropediatrics 39, 128–30. 6 Park YW, Chung JW, Yoon HJ, Yoon W, Kee SJ, Lee SS (2005) Behcet’s disease presenting with clinical manifestations of moyamoya disease. J Korean Rheum Assoc 12, 227– 30. 7 Joo SP, Kim TS, Lee JH et al. (2006) Moyamoya disease associated with Behcet’s disease. J Clin Neurosci 13, 364–7. 8 Mendoza-Pinto C, Garcıa-Carrasco M, Jimenez-Hernandez M et al. (2010) Etiopathogenesis of Behcet’s disease. Autoimmun Rev 9, 241–5. 9 International Study Group for Behcßet’s Disease (1990) Criteria for diagnosis of Behcßet’s disease. Lancet 335, 1070–80. 10 Siva A, Saip S (2009) The spectrum of nervous system involvement in Behcßet’s syndrome and its differential diagnosis. J Neurol 256, 513–29. 11 Kuroda S, Houkin K (2008) Moyamoya disease: current concepts and future perspectives. Lancet Neurol 7, 1056– 66.

International Journal of Rheumatic Diseases 2014; 17: 920–922

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Moyamoya syndrome or Behçet's disease?

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