Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1712471
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Rare Neurological Presentation of Familial Hemophagocytic Lymphohistiocytosis

Vishal Patel
1  Department of Pediatric Neurology, Jaslok Hospital & Research Centre, Mumbai, Maharashtra, India
,
Anaita Udwadia-Hegde
1  Department of Pediatric Neurology, Jaslok Hospital & Research Centre, Mumbai, Maharashtra, India
,
Omkar Hajirnis
2  Synapses Child Neurology & Development Center, Thane, Maharashtra, India
,
Tarishi Nemani
1  Department of Pediatric Neurology, Jaslok Hospital & Research Centre, Mumbai, Maharashtra, India
,
Ambreen Pandrowala
3  Department of Immunology, Narayana Health SRCC Children's Hospital, Mumbai, Maharashtra, India
,
Mukesh Desai
3  Department of Immunology, Narayana Health SRCC Children's Hospital, Mumbai, Maharashtra, India
,
Thenral S. Geetha
4  Department of Genetics, MedGenome Labs Ltd, Bangalore, Karnataka, India
,
Vedam Ramprasad
4  Department of Genetics, MedGenome Labs Ltd, Bangalore, Karnataka, India
,
Ritu Kashikar
5  Department of Radiology, Jaslok Hospital & Research Centre, Mumbai, Maharashtra, India
› Author Affiliations
Funding None.
Further Information

Publication History

24 November 2019

21 April 2020

Publication Date:
29 May 2020 (online)

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.