Haemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome caused by deficient down-regulation of the immune response. Presence of central nervous system (CNS) involvement at diagnosis is a poor prognostic sign, and should be carefully investigated. Herein, we describe the neuroradiological findings, clinical data, and treatment outcome in 12 patients with genetic HLH and CNS complications. Neuroimaging was important in identifying CNS involvement, monitoring treatment responses, and detecting treatment complications.
- Familial haemophagocytic lymphohistiocytosis
- Genetic immune deficiency syndromes
- Magnetic resonance imaging
- Magnetic resonance spectroscopy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health