Mariam Tadross1, Liza Smirnoff2, Sofia Parellada1
1University of Miami, 2University of Miami Health
Objective:
To present a case of anti-Hu syndrome associated with rhabdomyosarcoma, confirmed through HuD antigen tissue staining.
Background:
A 49-year-old man with a history of depression presented with progressive body numbness and weakness. Initial symptoms included numbness in the distal lower and upper extremities, abdominal involvement, and facial numbness. Despite extensive negative imaging and diagnostic workups, including MRIs and lumbar puncture, his condition worsened, evolving to ataxia and hemiballistic movements of the upper extremities as well as mobility issues, weight loss, and progressing systemic symptoms.
Design/Methods:
A comprehensive diagnostic approach was utilized, including extensive neurologic imaging, lumbar puncture, and a full metabolic and infectious workup. A paraneoplastic panel revealed an elevated anti-Hu titer at 1:30,720. Subsequent imaging revealed enhancement of cranial nerves and swelling consistent with an inflammatory process, but initial occult malignancy workups were negative. Finally, PET-CT and biopsy confirmed the presence of rhabdomyosarcoma in the right lower extremity.
Results:
With an elevated anti-Hu titer and a confirmed rhabdomyosarcoma, in the absence of other neoplasms, HuD antigen tissue staining was performed on the rhabdomyosarcoma after surgical excision and was positive, confirming this neoplasm as the source of the patient’s anti-Hu paraneoplastic syndrome.
Conclusions:
This is the second reported case of confirmed anti-Hu paraneoplastic syndrome associated with rhabdomyosarcoma. It highlights the diagnostic challenges associated with anti-Hu syndrome, particularly when linked to non-small cell malignancies like rhabdomyosarcoma. It underscores the necessity for a thorough diagnostic approach, including paraneoplastic antibody testing and extended cancer evaluation when anti-Hu syndrome is suspected. Early recognition and treatment of the underlying malignancy are crucial for patient management.
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