Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated Central Nervous System Inflammation

Autor: Giorgia, Bucciol, Nele, Willemyns, Benjamin, Verhaaren, Xavier, Bossuyt, Katrien, Lagrou, Anniek, Corveleyn, Despina, Moshous, Katrien, Jansen, Liesbeth, De Waele, Isabelle, Meyts
Rok vydání: 2022
Zdroj: Neurology.
ISSN: 1526-632X
Popis: 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 (ADEM), human herpesvirus 6 (HHV-6) encephalitis, and hemophagocytic lymphohistiocytosis (HLH). Because of its rarity, HLH is often overlooked as a differential diagnosis in encephalitis, especially in the isolated central nervous system (CNS) forms. As this case illustrates, inborn errors of immunity (IEIs) can underlie isolated encephalitis and should be included in the differential diagnosis of these presentations.
Databáze: OpenAIRE