Objective:

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Background:

Hemophagocytic lymphohistiocytosis (HLH) is a rare systemic disorder characterized by uncontrolled proliferation of lymphocytes and histiocytes in multiple organs including the central nervous system. One study evaluated ocular manifestations in 1525 patients diagnosed with HLH, 39.0% of patients had ocular abnormalities, 49.6% of whom had retinal and vitreous hemorrhages. A single case of atypical HLH has been reported in a patient with pre-existing neuromyelitis optica. We report a case of acute right optic neuritis, transverse myelitis, and left eye retinal hemorrhage in a patient who developed HLH following a mononucleosis infection.

Design/Methods:

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Results:

19-year-old male with recent mononucleosis infection presented with progressive right monocular vision loss and right hemiparesthesia. Neuroimaging showed demyelination with abnormal enhancement in the right optic nerve, multiple areas of enhancement throughout the cerebrum and pons, and T2 hyperintensity at T1. CSF analysis equivocal for oligoclonal bands. APQ4 and MOG antibodies were also negative.  Patient was treated with a 5 day course of high-dose intravenous methylprednisolone and 5 volumes of plasmapheresis. There was an improvement in paresthesia symptoms and ocular pain but visual acuity remained unchanged.

Patient was started on a single course of rituximab before being readmitted for pneumonia and neutropenic fever. Repeat imaging notable for multiple T2 hyperintensities with hemorrhagic components in the brainstem lesions. Blurry vision in the left eye was reported, with pre-retinal hemorrhages observed during ophthalmoscopy. Bone marrow biopsy revealed hemophagocytosis and a genetic panel showed heterozygous HLH carrier status. In the setting of pancytopenia, hyperferritinemia, hypofibrinogenemia, and hepatosplenomegaly, patient was started on high dose steroids, chemotherapy, with plan for hematopoietic stem cell transplant.

Conclusions:

HLH is a rare, rapidly progressive, systemic inflammatory syndrome that can present at any age with unexplained neurological symptoms. Certain genetic mutations in combination with a high index of suspicion can aid in timely diagnosis and treatment.