From the Department of Pediatrics (G.B., N.W., K.J., L.D.W., I.M.), Radiology (B.V.) and Laboratory Medicine (X.B., K.L.), and Center for Human Genetics (A.C.), Leuven University Hospitals; Laboratory of Inborn Errors of Immunity (G.B., I.M.), Departments of Microbiology, Immunology and Transplantation, Laboratory of Clinical Microbiology (K.L.), Department of Microbiology, Immunology and Transplantation, and Development and Regeneration (K.J., L.D.W.), KU Leuven, Belgium; Department of Pediatric Immunology (D.M.), Hematology and Rheumatology, Necker-Enfants Malades Hospital, APHP, Paris; and Imagine Institute, Inserm U1163, Université Paris Cité, France.
Neurology. 2022 Oct 11;99(15):660-664. doi: 10.1212/WNL.0000000000201124. Epub 2022 Aug 10.
Encephalitis and encephalopathy in children represent a diagnostic challenge. We describe a patient with relapsing encephalitis in whom the differential diagnosis included acute disseminated encephalomyelitis, human herpesvirus 6 encephalitis, and hemophagocytic lymphohistiocytosis (HLH). Because of its rarity, HLH is often overlooked as a differential diagnosis in encephalitis, especially in the isolated CNS forms. As this case illustrates, inborn errors of immunity can underlie isolated encephalitis and should be included in the differential diagnosis of these presentations.
儿童脑炎和脑病是一种具有挑战性的诊断。我们描述了一例复发性脑炎患者，其鉴别诊断包括急性播散性脑脊髓炎、人疱疹病毒 6 脑炎和噬血细胞性淋巴组织细胞增多症（HLH）。由于其罕见性，HLH 常被忽视为脑炎的鉴别诊断，尤其是在孤立性中枢神经系统形式中。正如本病例所示，先天性免疫缺陷可能是孤立性脑炎的基础，应包括在这些表现的鉴别诊断中。
