19 July 2025
: Case report
Adult Hemophagocytic Lymphohistiocytosis (HLH) with Neurological Involvement: Diagnostic Complexities – A Case Report and Literature Review
Unusual clinical course, Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Michał J. Sekuła







DOI: 10.12659/AJCR.947694
Am J Case Rep 2025; 26:e947694
Abstract
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal disease that is uncommon among adults. It is characterized by proinflammatory overactivity of the immune system. In infants it is usually hereditary, whereas in adults it is secondary to infection, malignancies, or autoimmune diseases. Clinical features include fever, hepatosplenomegaly, pancytopenia, lymphadenopathy, hypertriglyceridemia, hyperferritinemia, hemophagocytosis, and, rarely in adults, CNS involvement.
CASE REPORT: We report the case of a 54-year-old man, in whom HLH has been diagnosed, manifesting mainly as neurological signs – increasing spastic paraparesis with sphincter disorder. He had a fever of unestablished etiology for about 1 year. On brain and thoracic spinal cord MRI there were multiple disseminated focal lesions suspected of being demyelination. Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis were excluded. Treatment with dexamethasone, etoposide, cyclosporine A, and intrathecal methotrexate was used. After a temporary significant improvement in his clinical condition, the patient died 18 months after diagnosis. Our literature review found 37 cases of HLH with neurological symptoms. Only 3 of these cases (and only 1 of them similar to our case) involved clinical and imaging features of demyelinating disease, as in the present case.
CONCLUSIONS: HLH mimicking demyelinating disorders is rarely encountered clinically. In such a situation, making a diagnosis is extremely difficult and the initiation of appropriate treatment may be delayed, which significantly worsens the prognosis for patients. Increased clinical awareness of HLH should be present in the non-specific course of various diseases, including those with neurological symptoms of unclear origin.
Keywords: Neuroimaging, Central Nervous System Diseases, Demyelinating Autoimmune Diseases, CNS, Hematology
In Press
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.947174
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.947246
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.948491
Case report
Am J Case Rep In Press; DOI: 10.12659/AJCR.947065
Most Viewed Current Articles
21 Jun 2024 : Case report
102,413
DOI :10.12659/AJCR.944371
Am J Case Rep 2024; 25:e944371
07 Mar 2024 : Case report
54,671
DOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
20 Nov 2023 : Case report
38,618
DOI :10.12659/AJCR.941424
Am J Case Rep 2023; 24:e941424
07 Jul 2023 : Case report
26,214
DOI :10.12659/AJCR.940200
Am J Case Rep 2023; 24:e940200