Work

Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report

Year: 2025

Type: article

Abstract: Familial HLH (FHL), if untreated, has often a fatal outcome. 1 Neurological symptoms are seen in about two-thirds of FHL patients as a result of leptomeningeal and parenchymal infiltration by lymphocytes and macrophages, and suggest a poor prognosis. 2 We present the case of a four-year-old girl with familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare homozygous mutation of STX11 who was found to have leukoencephalopathy on neuroimaging. She had an unusual finding of low ferritin on initial evaluation that was misleading for the final diagnosis. CNS involvement portends a poor prognosis in HLH and must be kept in mind early in the diagnosis of FHL. Even in the presence of subtle symptoms, active investigation must be done in such cases as timely treatment is rewarded with good results.

Source: Pediatric Hematology Oncology Journal

DOI: 10.1016/j.phoj.2025.04.004

Authors: Vaishnavi Sreenivasan, Kawaldeep Kaur, Sanghamitra Ray, Amitabh Singh, Sumit Mehndiratta, Nidhi Chopra

Institutions: Safdarjang Hospital, Vardhman Mahavir Medical College & Safdarjung Hospital

Language: English

Topic: Autoimmune and Inflammatory Disorders Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600