Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS Inflammation
Giorgia Bucciol, Nele Willemyns, Benjamin F.J. Verhaaren, Xavier Bossuyt, Katrien Lagrou, Anniek Corveleyn, Despina Moshous, Katrien Jansen, Liesbeth De Waele, Isabelle Meyts
Abstract
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.