Isolated central nervous system familial hemophagocytic lymphohistiocytosis (fHLH) presenting as a mimic of demyelination in children. (April 2022)

• Record Type: Journal Article
• Authors: Parida, Amitav; Abdel-Mannan, Omar; Mankad, Kshitij; Foster, Katharine; Ramdas, Sithara; Ram, Dipak; Eleftheriou, Despina; Hemingway, Cheryl; Hacohen, Yael; Wassmer, Evangeline
• Is Part Of: Multiple sclerosis. Volume 28:Number 4(2022)
• Page Start: 669
• Page End: 675
• Publication Date: 2022-04
• Subjects: Hemophagocytic lymphohistiocytosis -- central nervous system haemophagocytic lymphohistiocytosis -- paediatric demyelination -- multiple sclerosis mimics; Central nervous system -- Diseases -- Periodicals; Myelin sheath -- Diseases -- Periodicals; Inflammation -- Periodicals; Multiple sclerosis -- Periodicals; Central Nervous System Diseases -- Periodicals; Demyelinating Diseases -- Periodicals; Inflammation -- Periodicals; Multiple Sclerosis -- Periodicals; Système nerveux central -- Maladies -- Périodiques; Gaine de myéline -- Maladies -- Périodiques; Inflammation (Pathologie) -- Périodiques; Sclérose en plaques -- Périodiques; Electronic journals; 616.834005
• DOI: 10.1177/13524585211053565
• Languages: English
• ISSNs: 1352-4585

Abstract

Isolated central nervous system (CNS) presentations of haemophagocytic lymphohistiocytosis (HLH), traditionally a systemic inflammatory condition, have been reported in adults and children. We identified nine patients with a diagnosis of isolated CNS familial hemophagocytic lymphohistiocytosis (fHLH) with symptom onset <18 years of age, and one asymptomatic sibling. Children with atypical chronic/recurrent CNS inflammation should be considered for immunological and genetic panel testing for fHLH even in the absence of any systemic inflammatory features. Despite haematopoietic stem cell transplantation (HSCT) being a mainstay of treatment, treatment failure and high morbidity and mortality post-HSCT suggest that alternative immune therapies may be worth considering.