EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 10 (2006) 97–99 Official Journal of the European Paediatric Neurology Society Case study Neuro-Behçet disease presenting as secondary pseudotumor syndrome: Case report Emrah Cana, Bülent Karab,*, Ayper Somera, Melike Kesera, Nuran Salmana, Işık Yalçına a Istanbul University, Faculty of medicine, Istanbul, Turkey Kocaeli University, Faculty of medicine, Kocaeli, Turkey b A R T I C L E I N F O A B S T R A C T Article history: Behçet’s disease is a multisystemic, recurrent, inflammatory disorder, which has a three- Received 10 November 2005 symptom complex comprising uveitis, oral aphtae and genital ulcerations. It is rare in Received in revised form childhood. The prevalence of neurologic involvement in BD is range of 10–49%, and shows a 8 February 2006 wide spectrum from isolated headache to subacute encephalopathy and severe psychosis. Accepted 15 February 2006 We report a 12-year-old Behçet’s disease patient with secondary pseudotumor syndrome due to cerebral vein thrombosis and aim to review the literature. Q 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. Keywords: Neuro-Behçet Pseudotumor cerebri Cerebral vein thrombosis Children 1. Introduction Behçet’s disease (BD) was first described by Turkish dermatologist Hulusi Behçet as a three-symptom complex comprising uveitis, oral aphtae and genital ulcerations.1 Today BD is known as a multisystemic, recurrent inflammatory disorder, which affects eyes, skin and mucosa, joints, vascular system (mainly the veins), lungs, gastrointestinal tract and nervous system.1 The prevalence of the disease is particularly high in a region extending from the Mediterranean basin to Japan along the Silk Route. The cause of BD is not definitely known, but various immunological abnormalities induced by particular microbial agents or other environmental factors in genetically susceptible subjects have been suggested.2 The initial symptoms usually begin in adulthood, but 3% of the patients are under 16-year-old.1 This report presents a 12-year-old BD patient with secondary pseudotumor syndrome due to cerebral vein thrombosis. We aim to discuss the diagnostic criteria, clinical findings, CNS findings, therapy and prognosis of BD. 2. Case study A 12-year-old boy was reported to the emergency department with a 1 month history of headache, dizziness and vomiting. His weight was 27 kg (3–10th percentile), height 135 cm (3rd percentile), head circumference 46 cm (50th percentile). Physical examination was normal except oral aphthous lesions and bilateral papilledema. White blood cell (WBC) count was hemoglobin 10.8 g/dL, platelet count 14,500 mm3 , 418,000/mm3, erythrocyte sedimentation rate (ESR) 20 mm/h, C-reactive protein (CRP) 3.5 mg/dL. Cranial computed * Corresponding author. Tel.: C90 216 3692466. E-mail address: bulentkara@excite.com (B. Kara). 1090-3798/$ - see front matter Q 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.ejpn.2006.02.003 98 EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY tomography imaging showed contrast involvement at right transverse sinus. CSF analysis was normal, and CSF culture was sterile. CSF pressure could not be measured. Cranial MRI and MR venography were normal. Cerebral angiography could not be done. The patient was diagnosed as secondary pseudotumor syndrome due to cerebral vein thrombosis. He was investigated for Behçet’s disease (BD) because of oral lesions. Pathergy skin hypersensitivity test was negative. There was only one major criteria for BD, so the diagnostic criteria were insufficient. After the acute problems resolved, he discharged from the hospital, but he did not come back for control examinations. After 4 months, he was reported to outpatient clinic with the complaints of fatigue, blurred vision, headache, oral aphtae and cutaneous lesions. During this period he had complained of daily headaches. Oral aphthous lesions recurred approximately once in a month and scrotal aphthous lesions were observed 1 month ago. He complained of weakness. Physical examination revealed multiple oral aphthous lesions, purple-colored erythema nodosum like cutaneous lesions on arms and legs. Bilateral papilledema were still persisted, and uveitis was diagnosed. Other system examinations were normal. Laboratory analyses on the second admission revealed a hemoglobin of 9.2 g/dl, WBC count of 10,600 mm3, platelet count of 380,000 mmK3, ESR of 45 mm/h, CRP of 72 mg/dL. Cranial MRI was normal. MR venography demonstrated inferior sagittal sinus trombosis. The values of PT, aPTT, lipid profiles, hemoglobin electrophoresis, protein-C, protein-S, anti-thrombin III were normal. Mutations of factor V Leiden, prothrombin 20210-A, MTHFR and ANA, ANCA, anticardiolipin antibodies were negative. Echocardiography was normal. Anti-thrombotic therapy was not ordered. Pathergy skin hypersensitivity test was positive. The patient was diagnosed with BD according to the criteria of International Study Group of Behçet’s disease. Colchicine 2!0.5 mg and prednisolone 2 mg/kg per day by oral route were prescribed. Due to the insufficient control of the symptoms azathioprine was added at the end of the first month of the therapy. Oral aphthous lesions, cutaneous lesions and headache disappeared with this combination; the symptoms did not recur. 3. Discussion Behçet’s disease (BD) is a multisystem vasculitis of unknown origin. Recurrent oral ulcer can be found in 99% of all patients and it is the first symptom in 70% of the cases.3 Ocular 10 (2006) 97–99 compromise can be found in up to 90% of the patients, skin lesions in 85% of cases and genital ulcers in approximately 70%.3 The diagnosis of BD depends on clinical findings and there is no specific laboratory test for the diagnosis. Diagnosis of BD is based on the International Study Group for Behçet’s disease diagnostic criteria in 19904 (Table 1). Oral ulcers and two other major criteria are necessary for the diagnosis.4 The diagnostic criteria cannot be completely met on a first evaluation in up to 75% of cases, especially in children. In the first evaluation of our patient we could not diagnose BD because of having only one major criteria but in the second evaluation, we diagnosed complete BD because of having all major criteria. Idiopathic intracranial hypertension is a clinical finding in an awake and conscious case who has the symptoms of intracranial hypertension without focal neurological findings, and with normal CSF findings, normal brain imaging results and no identifiable cause of increased intracranial pressure. Our case did not meet these criteria, because measurement of the lumbar subarachnoid pressure could not be performed and cranial CT and MR venography showed cerebral vein thrombosis. So, we accepted that our case had secondary pseudotumor syndrome due to cerebral vein thrombosis. The cases with neurological involvement in BD are also named neuro-Behçet. The most common CNS symptoms are fatigue, demans, loss of vision, dyplopia, nystagmus, cranial nerve palsies, pseudobulbar palsy, pyramidal signs, cerebellar signs, sensory symptoms, speech disturbance, isolated or recurrent aseptic meningitis.1 In our case, the first presentation of BD was secondary pseudotumor syndrome, but during these days there was not any sign of systemic disease, except oral ulcers. Therefore, we were late in diagnosis and specific treatment of BD. Four months after the diagnosis of secondary pseudotumor syndrome, the clinical signs of major criteria of BD appeared. The CNS involvement in BD can be categorized in two groups except isolated headache. The first group is parenchymal involvement due to inflammation and the second group is non-parenchymal involvement due to vascular complications. Parenchymal involvement often arises in the midbrain or pons with subacute ophthalmoplegia and ataxia. MRI shows high signal intensity particularly in brainstem and capsula interna in T2-weighted images.2 Parenchymal involvement sometimes causes meningoencephalitis or recurrent aseptic meningitis. The most common CSF abnormalities are moderate pleocytosis with predominant lymphocytes, and Table 1 – International Study Group for Behçet’s disease criteria (1990) Recurrent minor or major aphthous or herpetiform ulceration of the mouth (patients who fulfil these criteria must have two or more of the features noted) Plus Recurrent genital ulceration Erythema nodosum Pseudofolliculitis Papulopustular eruption Acneiform nodules Positive pathergy test Anterior or posterior uveitis Retinal vasculitis EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY increased protein content.3 Non-parenchymal involvement is described as large artery occlusion, thrombosis of large venous sinuses, aneurysm, and hemorrhage. Intracranial hypertension due to cerebral vein thrombosis is the most common finding. CSF is generally normal. In our case, there was not any signal change of inflammation in brainstem, white and gray matter in cranial MR. CSF was normal and there were clinical findings of intracranial hypertension. For this reason, we determined the case as non-parenchymal CNS involvement. Transverse sinus thrombosis in cranial computed tomography imaging in the first evaluation, and dural venous sinus thrombosis in MR venography in the second evaluation of the case supported our diagnosis. Evidence based data related with the treatment of neurological complications in BD are insufficent.2 Corticosteroids, anticoagulant therapy, other immunosuppressant, and colchicine are tried in various studies. Corticosteroids is often helpful, but usually the other immunosuppressant drugs, such as, azathioprine, methotrexate, cyclosporine A, chlorambucil and cyclophosphamide are necessary. Because of the vasculitic process, sytemic corticosteroids combined with azathioprine for long-term immunosuppression is the most recommended therapy when there is central nervous system involvement in BD.3 Recently, interferon-a-2a and infliximab have been used with success even in patients seemingly resistant to other immunosuppressant. Treatment of cerebral vein thrombosis in BD is not standardized either.2 The use of anticoagulants in the treatment of cerebral vein thrombosis remains controversial.2 The prognosis in parenchymal nervous system involvement is related to number of attacks, the degree to which 10 (2006) 97–99 99 recovery occurs with each attack whether there is brainstem involvement and the presence of a progressive disease course.5 Fifty percent of cases have single attack and the rest of the cases have recurrent attacks or progressive course. The prognosis in non-parenchymal involvement is better.5 After the treatment of cases with isolated pseudotumor cerebri, attacks usually do not recur, but sometimes both parenchymal and non-parenchymal involvement can occur.5 Therefore, we cannot make a definite foresight about the prognosis of our case. As a result, one shall not ignore BD in cases with secondary pseudotumor syndromes due to cerebral vein thrombosis and search for cerebral venous sinus thrombosis. It is significant to realize that the major criteria of BD may not be apparent at the time of first presentation. R E F E R E N C E S 1. Akman-Demir G, Serdaroğlu P, Taşçı B, The Neuro-Behçet Study Group. Clinical patterns of neurological involvement in Behçet’s disease: evaluation of 200 patients. Brain 1999;122:2171–82. 2. Alper G, Yılmaz Y, Ekinci G, Köse Ö. Cerebral vein thrombosis in Behçet’s disease. Pediatr Neurol 2001;25:332–5. 3. Fabiani G, Monteiro de Almeida S, Germiniani FMB, et al. Neuro-Behçet: report of three clinically distinct cases. Arq Neuropsiquiatr 2001;59:250–4. 4. International Study Group for Behçet’s disease. Criteria for diagnosis of Behçet’s disease. Lancet 1990;335:1078–80. 5. Kidd D. Neurological complications of Behçet’s syndrome. ACNR 2003;3:8–10.