Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Pediatric Neurology Department, National Referral Center for Neuro-Inflammatory Diseases in Children, and University Paris Sud, Le Kremlin-Bicêtre, Paris, France.
Neurology. 2012 Apr 10;78(15):1150-6. doi: 10.1212/WNL.0b013e31824f800a. Epub 2012 Mar 14.
To differentiate onset of CNS involvement in primary hemophagocytic lymphohistiocytosis (HLH) from that of other CNS inflammatory diseases and to identify early symptoms linked to abnormal cognitive outcome.
Forty-six children with primary HLH who had neurologic evaluation within 2 weeks and brain MRI within 6 months of diagnosis were included. Initial symptoms, CSF study, brain MRI, and neurologic outcome were assessed. Brain MRIs were compared with those of 44 children with acute disseminated encephalomyelitis (ADEM).
At disease onset, 29 children (63%) had neurologic symptoms and 7 (15%) had microcephaly. Twenty-three (50%) children had abnormal CSF study, but only 15 (33%) had abnormal brain MRI. The latter showed that patients with HLH, unlike patients with ADEM, had symmetric periventricular lesions, without thalamic and brainstem involvement and with infrequent hyposignal intensity on T1. At the end of follow-up (3.6 ± 3.6 years), 17 of the 28 (61%) surviving patients had normal neurologic status, 5 (18%) had a severe neurologic outcome, and 6 (21%) had mild cognitive difficulties. Abnormal neurologic outcome was not influenced by age or type of genetic defect, but by the presence of neurologic symptoms, MRI lesions, or abnormal CSF study at onset. Early clinical and MRI symptoms may regress after treatment.
Neurologic symptoms are frequent at the onset of primary HLH and are mostly associated with abnormal CSF findings, but with normal brain MRI. In cases of abnormal brain MRI, the observed lesions differ from those of ADEM.
将原发性噬血细胞性淋巴组织细胞增多症（HLH）中枢神经系统受累的发病时间与其他中枢神经系统炎症性疾病区分开来，并确定与认知功能异常相关的早期症状。
共纳入 46 例在诊断后 2 周内接受神经评估且在 6 个月内接受脑 MRI 的原发性 HLH 患儿。评估了首发症状、CSF 研究、脑 MRI 和神经预后。将脑 MRI 与 44 例急性播散性脑脊髓炎（ADEM）患儿的脑 MRI 进行比较。
在疾病发病时，29 例（63%）患儿有神经系统症状，7 例（15%）患儿有小头畸形。23 例（50%）患儿 CSF 研究异常，但只有 15 例（33%）患儿脑 MRI 异常。HLH 患儿的脑 MRI 表现与 ADEM 患儿不同，HLH 患儿的 MRI 表现为对称性脑室周围病变，无丘脑和脑干受累，且 T1 信号强度低。在随访结束时（3.6±3.6 年），28 例存活患儿中有 17 例（61%）神经功能正常，5 例（18%）有严重的神经功能结局，6 例（21%）有轻度认知困难。神经功能不良结局不受年龄或遗传缺陷类型的影响，但与发病时的神经系统症状、MRI 病变或 CSF 研究异常有关。早期临床和 MRI 症状可能在治疗后消退。
原发性 HLH 发病时常见神经系统症状，且多与 CSF 异常发现相关，但脑 MRI 正常。在脑 MRI 异常的情况下，观察到的病变与 ADEM 不同。
