Fellow in Advanced Training in Neuroendovascular Interventions, Department of Medical Surgical Science and Advanced Technologies "GF Ingrassia", University of Catania, Catania, Italy.
Department of Neurology, Cannizzaro Hospital, Catania, Italy.
BMC Neurol. 2020 Oct 6;20(1):366. doi: 10.1186/s12883-020-01944-5.
Sturge-Weber syndrome (SWS) is primarily diagnosed in pediatric population, but clinical presentation in late adulthood is rarely reported. Evolution of radiological findings in the adulthood variant of SWS with isolated leptomeningeal angiomatosis has never been reported to our knowledge.
We report here a case of an isolated temporo-parieto-occipital leptomeningeal angiomatosis on the right cerebral hemisphere in a sixty-two-year-old male who presented with generalized seizure, GCS score 14/15 (E4 V4 M6) with equal and reacting pupils, psychomotor slowing, left hemineglect and grade 4 power in the left upper and lower limbs. Over a period of 48 h his neurological status deteriorated, but recovered spontaneously over a week on titration with anticonvulsants. He had a prior history of treatment for focal leptomeningitis, three years ago. Cerebrospinal fluid (CSF) analysis showed glucose of 75 mg/dL, proteins of 65 mg/dL and culture grew no organisms. On follow-up, he had intermittent episodes of focal seizure for two years. Initial, computed tomography of brain showed hyperdense lesion in the parieto-occipital convexity subarachnoid space on the right cerebral hemisphere mimicking subarachnoid hemorrhage and computed tomography angiography showed no significant abnormality. Magnetic resonance imaging (MRI) of brain showed intense pial enhancement in the right temporo-parieto-occipital region with a subtle T2W hyperintense signal in the underlying subcortical white matter without edema or infarct or mass effect. Digital subtraction cerebral angiography (DSA) showed hypertrophy of the cerebral arteries, arteriolo-capillary bed and venules in the right temporo-parieto-occipital territory associated with early arterio-capillary and venous opacification. Serial MRI done after six months, one and two years showed increase in the T2W hyperintense signal in the subcortical white matter and cortical atrophy with no changes in the pial enhancement. MR perfusion imaging showed reduced cerebral blood flow (CBF) and cerebral blood volume (CBV) in the right parieto-temporo-occipital cortical and subcortical regions and increased perfusion in the leptomeninges with reduction of the NAA / Cr ratios in spectroscopy.
Conglomeration of various radiological findings in MRI, Perfusion, MRS and DSA with the clinical presentation can aid in establishing the diagnosis of this rare presentation of SWS-type 3 variant in late adulthood.
Sturge-Weber 综合征（SWS）主要在儿科人群中诊断，但在成年后期的临床表现很少有报道。据我们所知，孤立性软脑膜血管畸形的 SWS 成人变异型的放射学发现的演变从未有过报道。
我们在此报告一例 62 岁男性右侧大脑半球孤立性颞顶枕部软脑膜血管畸形病例，表现为全面性癫痫发作，GCS 评分为 14/15（E4 V4 M6），瞳孔等大且反应灵敏，精神运动迟缓，左侧忽略，左上肢和下肢肌力 4 级。在 48 小时内，他的神经状态恶化，但在抗癫痫药物滴定治疗一周后自发恢复。他有既往治疗局灶性软脑膜炎症的病史，发生在三年前。脑脊液（CSF）分析显示血糖 75mg/dL，蛋白 65mg/dL，培养无微生物生长。随访中，他有两年间歇性局灶性癫痫发作。最初，脑 CT 显示右侧大脑半球顶枕部凸面蛛网膜下腔高密度病变，类似于蛛网膜下腔出血，CT 血管造影未见明显异常。脑 MRI 显示右侧颞顶枕部脑膜明显强化，相应的皮质下白质有轻微 T2W 高信号，无水肿、梗死或肿块效应。数字减影脑血管造影（DSA）显示右侧颞顶枕部脑动脉、动静脉毛细血管床和小静脉肥大，伴早期动静脉毛细血管和静脉显影。六个月、一年和两年后的连续 MRI 显示皮质下白质 T2W 高信号增加，皮质萎缩，脑膜强化无变化。磁共振灌注成像显示右侧顶颞枕部皮质和皮质下区域脑血流（CBF）和脑血容量（CBV）减少，脑膜灌注增加，波谱 NAA/Cr 比值降低。
MRI、灌注、MRS 和 DSA 中的各种放射学发现与临床表现相结合，有助于确立这种罕见的成年后期 SWS 型 3 变异的诊断。
