Maia Luís F, Marta Mónica, Lopes Vitor, Rocha Nelson, Lopes Carlos, Martins-da-Silva Antônio, Monteiro Luís
Department of Neurological Disordes and Senses, Hospital Geral de Santo António, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal.
Arq Neuropsiquiatr. 2006 Sep;64(3B):865-8. doi: 10.1590/s0004-282x2006000500030.
Whipple disease (WD) is a rare systemic infection caused by Tropheryma whippelii. Neurological involvement has been recognised in 40% of patients, either as initial manifestations or during the course of the disease. We report on a 45 years-old man with WD with initial, persistent and irresistible episodes of daytime somnolence. The patient was HLA-DQB1*0602 positive (genetic marker for narcolepsy). WD diagnosis was suspected on clinical and MRI basis and confirmed by histological and immunohistochemical study of duodenal biopsy. Forty months later all clinical features improved, narcoleptic-like episodes disappeared and cerebral MRI and CSF normalised. Longitudinal neurophysiological studies revealed persistent sleep pattern abnormalities with sleep fragmentation, paucity of slow wave and of REM sleep. The disruption of the hypocretin circuitry in the hypothalamic - diencephalic region triggered by the infection was the probable cause of the hypersomnia and narcopleptic symptoms. WD should be added to the list of causes of secondary hypersomnia.
惠普尔病（WD）是一种由惠普尔嗜组织菌引起的罕见的全身性感染。40%的患者会出现神经受累，可表现为初始症状或在疾病过程中出现。我们报告了一名45岁患有WD的男性，其最初出现持续且无法抗拒的日间嗜睡发作。该患者HLA - DQB1*0602呈阳性（发作性睡病的基因标志物）。基于临床和磁共振成像（MRI）怀疑为WD，并通过十二指肠活检的组织学和免疫组织化学研究得以确诊。40个月后，所有临床症状均有改善，发作性睡病样发作消失，脑部MRI和脑脊液检查结果恢复正常。纵向神经生理学研究显示持续存在睡眠模式异常，包括睡眠片段化、慢波睡眠和快速眼动睡眠减少。感染引发的下丘脑 - 间脑区域下丘脑泌素神经回路破坏可能是导致发作性睡病和过度嗜睡症状的原因。WD应被列入继发性发作性睡病的病因清单中。
