Tackling elephantiasis neuromatosa presented as filariasis in an adult – A management dilemma: A case report

Abstract

Plexiform neurofibroma is a pathognomonic manifestation of Neurofibromatosis type 1 (NF1), a rare autosomal dominant genetic disorder. Elephantiasis Neuromatosa (EN) is an uncommon presentation of plexiform neurofibroma, which leads to severe limb hypertrophy and resembles filariasis. We discuss the diagnostic challenges encountered in identifying EN, in an adult initially misdiagnosed as filariasis for 15 years. NF-1 diagnostic criteria, including characteristic MRI findings, biopsy, and genetic testing were crucial for accurate diagnosis. The patient was treated with trametinib, resulting in significant clinical improvement within one month, highlighting the potential efficacy of MEK inhibition in managing diffuse plexiform neurofibroma. This case highlights the importance of a multidisciplinary approach and prompt diagnosis in managing rare NF1 presentations like EN, addressing treatment complexities, and access challenges.