Turtzo L Christine, Lin Doris D M, Hartung Helge, Barker Peter B, Arceci Robert, Yohay Kaleb
Department of Neurology and Pediatric Neurology, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21287, USA.
J Child Neurol. 2007 Jul;22(7):863-8. doi: 10.1177/0883073807304203.
Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The case presented here describes an 18-month-old boy who initially presented with fever, encephalopathy, and hemiparesis. He had innumerable brain lesions visualized on magnetic resonance imaging scans. An infectious etiology was excluded, and brain, liver, and bone marrow biopsies were nonspecific but consistent with hemophagocytic lymphohistiocytosis. Cells were sent for flow cytometry perforin analysis, which demonstrated defective natural killer cell function. A diagnosis of familial hemophagocytic lymphohistiocytosis was confirmed by mutation analysis and decreased expression of the perforin gene, in the patient and immediate family members. These results showed the patient to be a compound heterozygote for perforin mutations. His case illustrates the potential for a fulminant neurological presentation of familial hemophagocytic lymphohistiocytosis with widespread lesions in the brain.
家族性噬血细胞性淋巴组织细胞增生症是一种自然杀伤细胞功能遗传性缺陷和细胞因子活性过度的疾病，主要在幼儿期发病。家族性噬血细胞性淋巴组织细胞增生症的初始症状通常不具有特异性，但可能主要表现为神经系统症状。本文介绍的病例是一名18个月大的男孩，最初表现为发热、脑病和偏瘫。磁共振成像扫描显示他有无数脑损伤。排除了感染性病因，脑、肝和骨髓活检结果不具有特异性，但与噬血细胞性淋巴组织细胞增生症相符。细胞送去进行流式细胞仪穿孔素分析，结果显示自然杀伤细胞功能缺陷。通过对患者及其直系亲属进行突变分析和穿孔素基因表达降低的检测，确诊为家族性噬血细胞性淋巴组织细胞增生症。这些结果表明该患者是穿孔素突变的复合杂合子。他的病例说明了家族性噬血细胞性淋巴组织细胞增生症可能会以暴发性神经系统症状出现，并伴有脑部广泛病变。
