Key words anticardiolipin antibody, Down syndrome, Moyamoya disease, stroke, varicella.Moyamoya syndrome (MMS) is a chronic occlusive cerebrovascular disorder characterized by a slowly progressive occlusion of the internal carotid artery with an abnormal formation of collateral vessels; it occurs as a primary disease or in association with a variety of conditions. 1,2 The association between Down syndrome (DS) and MMS is a rare but well-established disease state. [1][2][3][4][5][6] Antiphospholipid antibodies are known to be involved in the development of stroke in patients with MMS. 2,6 There are also reports concerning the presence of antiphospholipid antibodies in patients with DS and MMS who experience a stroke. 2,3,6 Furthermore it is known that viral infections, including varicellazoster virus, frequently induce anticardiolipin antibodies, a type of antiphospholipid antibody, in children. 7 However, varicellatriggered stroke in association with DS and MMS has not been reported.We report on a patient with DS in whom a stroke occurred soon after varicella infection. Laboratory examination revealed the presence of anticardiolipin antibodies and magnetic resonance (MR) angiography showed cranial vascular changes compatible with MMS.
CaseA 2-year-old Japanese boy with DS (diagnosis of trisomy 21 confirmed by karyotype analysis: 47, XY, +21) was admitted to our hospital for left hemiparesis on 30 October 2003. Nine days before admission, systemic sparse vesicular eruptions appeared. His home doctor made the diagnosis of varicella and prescribed acyclovir therapy for 5 days. Six days later, weakness in the left limbs was apparent and the patient became unable to walk; he was thus referred to our hospital.At presentation his face showed typical DS. Varicella had cured with a scar formation. He was unable to sit and showed markedly hypotonic left limbs. Computed tomography scans showed a low-density area in the right front-parietal region extending into the cortex. MR imaging showed infarction in the watershed distribution of the right anterior and middle cerebral arteries (Fig. 1). MR angiography showed marked narrowing of the supraclinoid portions of both internal carotid arteries with marked decreased flow in the bilateral middle and anterior cerebral arteries, and formation of abnormal collateral vessels at the base of the brain producing a 'puff of smoke' appearance ( Fig. 2).Echocardiogram was normal. Results of routine laboratory blood tests were normal. Coagulation studies, including prothrombin time, partial thromboplastin time, and activities of protein C, protein S, and antithrombin III, were normal. The level of Ig (immunoglobulin) G anticardiolipin antibodies was positive (19 units/mL). Lupus anticoagulant, IgG anti-beta2-glycoprotein I antibodies, and antinuclear antibodies were negative. However, anti-double strand DNA IgG antibodies were positive (29.1 IU/ mL). A lumber puncture yielded normal cerebrospinal fluid. Lactate and pyruvate levels in the blood were normal.A diagnosis of MMS with acute cere...