A Rare Neurological Presentation of Familial Hemophagocytic Lymphohistiocytosis

Abstract

In this case report, we described a 15-year-old boy who presented with intermittent episodes of ataxia and diplopia since 6.5 years of age. Extensive workup done over several years was negative. Brain biopsy showed a neuroinflammatory disorder, and hence, differential diagnosis of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, central nervous system (CNS) lymphoma, and small vessel CNS vasculitis were considered. A final diagnosis of familial hemophagocytic lymphohistiocytosis was made when the patient developed episodes of prolonged fever with pancytopenia much later in the course of illness and genetic workup revealed pathogenic mutations in the PRF1 gene.

Keywords

pediatric CLIPPERS - familial HLH - PRF1 gene

Publikationsverlauf

Eingereicht: 24. November 2019

Angenommen: 21. April 2020

Artikel online veröffentlicht:
29. Mai 2020

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