不典型性中枢神经系统Whipple病：一例报告并文献复习

Atypical central nervous system Whipple's disease:a case report and review of the literature

目的结合文献探讨中枢神经系统Whipple病的诊断与治疗特点,以提高对该病的认识。方法回顾分析1例以头痛、左侧肢休无力,伴记忆力减退为首发症状的不典型性中枢神经系统Whipple病的临床诊断与治疗经过,并进行文献复习。结果女性患者,35岁。首发症状表现为头痛、肢体无力及记忆力减退,但不伴发热、癫癎发作。病程进展过程中相继出现阵发性四肢抽动、右侧下肢无力、小便失禁、多食、体质量增加、停经、体温波动,大剂量糖皮质激素及青露素、复方磺胺甲噁唑等抗炎药物治疗无效,随着颅内压逐渐升高,脑疝形成。腰椎穿刺脑脊液检测仅蛋广白定量显著升高。脑电图提示右侧前额颞区慢波。MRI呈以右侧大脑半球、额顶颢叶、半卵圆中心及基底节为主的大片长T_1、长T_2信号,并不均匀疏松团状强化,病灶周围水肿,占位效应明显,并累及左侧大脑半球。病理学检查呈现大片状坏死,脑组织及血管周围大量淋巴细胞和浆细胞浸润,伴大量格子细胞渗出,胞质丰富,内含大量六胺银和PAS染色阳性的细小颗粒状物质。排除中枢神经系统肿瘤、脱髓鞘病变及炎性假瘤等疾病。结论中枢神经系统Whipple病极为罕见,临床及影像学表现复杂多样,病理学检查仅能提示特殊感染,治疗困难,误诊率及病死率高。早期进行组织活检,结合临床表现及病理学特征可以明确诊断,经规范的抗生素治疗,患者可获得良好预后。

Objective To report the first ease of central nervous system Whipple＇s disease （WD） with relatively good prognosis in China and present a brief review of central nervous system WD so as to improve the understanding of the diagnosis and treatment of this rare disease. Methods The clinical data of diagnosis, treatment and prognosis of one case of 35-year-old female was analysed in detail. Results Headache, hemiplesia and dementia were the main symptoms of this case and hypereranial pressure crisis occurred. During the course of disease, the patient successively presented paroxysmal extremity convulsion, right leg weakness, urinary incontinence, overeating, body mass increase. Despite of high dose of corticosteroid, penicillin and compound sulfamethoxazole were used, no effect was seen. Along with the increasing of intracranial pressure, cerebral hernia occurred. Cerebrospinal fluid examination indicated that glucose and chloride were normal while protein was obviously increased to 1700 mg/L. Electrocardiography （EEG） showed slow wave in right frontal and temporal lobes. Serial magnetic resonance imaging （MRI） revealed mutiple long TI and long T2 signals mainly in right cerebral hemisphere, frontal parietal temporal lobes, semioval center and basal ganglion, with edema and irregular loose contrast and extended to left cerebral. Brain biopsy showed large pieces of necrosis at right fronto-temporal lobe with massive infiltration of lymphocytes and plasmocytes at perivascular and brain tissue, and exudation of glitter cells. Positive PAS and methenamine silver staining revealed bacterial particles inglitter cells. Central nervous system tumor, demyelinating disease and inflammatory pseudotumor were excluded. Both clinical symptoms and neuroimging recovered well after regular antibiotic therapy. Conclusion Central nervous system WD is a rare disease with complicated symptoms and imaging characters challenging diagnosis and treatment. The pathological findings may only indicate a special infection of central nervous system with unknown origin. The management is difficuh. The misdiagnosis rate and fatality are high. It is important for clinicians to be aware of the features of this disease and make early decision to perl＇orm brain biopsy for diagnosis. Once it is diagnosed, normalized therapy should be given.