Primary CNS Burkitt Lymphoma Presenting as Sudden Bilateral Blindness in a Patient With Underlying Kabuki Syndrome: A Case Report

Burkitt lymphoma is an aggressive B-cell non-Hodgkin lymphoma (NHL). Primary CNS lymphoma (PCNSL) is a rare disease, and the subtype of Burkitt lymphoma presenting as a sole CNS lesion is an even rarer diagnosis. Acute sudden blindness is a rare presenting symptom of PCNSL or NHL in general. We pres...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-07, Vol.16 (7), p.e63725
Main Authors: Alghamdi, Abdulmalik H, Alzahrani, Mazen, Kamal, Yumna F, Aljehani, Reham, Ibrahim, Islam A, Alqahtani, Abdullah S
Format: Article
Language:English
Subjects:
Abdomen
Acquired immune deficiency syndrome
AIDS
Bone marrow
Case reports
Epstein-Barr virus
Intellectual disabilities
Lymphatic system
Lymphoma
Malaria
Nose
Ophthalmology
Optic nerve
Patients
Pituitary gland
Sinuses
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Summary:Burkitt lymphoma is an aggressive B-cell non-Hodgkin lymphoma (NHL). Primary CNS lymphoma (PCNSL) is a rare disease, and the subtype of Burkitt lymphoma presenting as a sole CNS lesion is an even rarer diagnosis. Acute sudden blindness is a rare presenting symptom of PCNSL or NHL in general. We present an interesting case of a four-year-old boy with dysmorphic features whose visual examination showed a sudden bilateral loss of vision. There was bilateral eye proptosis and complete ptosis. Extraocular muscles were fixed straight. The pupils were fixed and mid dilated bilaterally and there was grade 3/4 papilledema in both eyes. Neuroimaging showed a mass in the base of the skull, extending to orbits and sinuses. A cervical biopsy of the enlarged lymph nodes was taken and a histopathological diagnosis of Burkitt lymphoma was made. Genetic analysis showed a mutation, and the patient was diagnosed with Kabuki syndrome by a pediatrician, based on characteristic dysmorphic features. Treatment with steroids and chemotherapy was initiated.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.63725