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Paraneoplastic cerebellitis with Kelch-like protein 11 antibodies as an initial presentation for testicular seminoma
Joshua S Mercer1, Elisha Myers2, Matthew K Labriola3
1Internal Medicine-Paediatrics, Duke University Hospital, Durham, North Carolina, USA joshua.mercer10@gmail.com.
Abstract:
A male in his 40s presented with a 3-day history of progressive difficulty with ambulation and speech. Physical examination was notable for dysmetria, horizontal and vertical nystagmus and dysdiadochokinesis. The MRI of the brain was unrevealing. Given concern for a post-infectious or paraneoplastic origin of cerebellitis, cerebrospinal fluid (CSF) was sent for infectious and autoimmune antibody testing. A CT scan of the chest, abdomen and pelvis with contrast and a testicular ultrasound were performed, which revealed right retroperitoneal lymphadenopathy and a right testicular mass. He underwent a right radical orchiectomy with a pathology report revealing a pure seminoma. The CSF autoimmune panel was negative for the typical onconeuronal proteins associated with paraneoplastic syndromes. However, on further testing, the specimen was positive for the Kelch-like protein 11 antibody, a novel biomarker for paraneoplastic syndrome associated with testicular seminoma. The patient's symptoms mildly improved following surgical resection, intravenous immunoglobulin and initiation of chemotherapy.
Insights
A rare paraneoplastic syndrome linked to testicular seminoma was identified in a patient with cerebellitis. Kelch-like protein 11 antibody confirmed the diagnosis, aiding treatment decisions for this neurological complication.
Area of Science:
- Neurology
- Oncology
- Immunology
Background:
- Cerebellitis can present with neurological deficits affecting ambulation and speech.
- Paraneoplastic syndromes, often associated with malignancies, can manifest with diverse neurological symptoms.
Purpose of the Study:
- To investigate the cause of cerebellitis in a patient with a testicular mass.
- To identify potential paraneoplastic etiologies and novel biomarkers.
Main Methods:
- Clinical presentation, neurological examination, MRI, CT scans, testicular ultrasound, cerebrospinal fluid (CSF) analysis, and orchiectomy.
- CSF testing included infectious and autoimmune antibody panels, with specific testing for Kelch-like protein 11 antibody.
Main Results:
- A pure testicular seminoma was diagnosed via orchiectomy.
- CSF analysis revealed positivity for the Kelch-like protein 11 antibody, a novel biomarker for paraneoplastic syndrome.
- Patient symptoms showed mild improvement after multimodal treatment.
Conclusions:
- Kelch-like protein 11 antibody is a significant biomarker for paraneoplastic syndrome in testicular seminoma.
- Early identification and treatment of paraneoplastic syndromes are crucial for patient outcomes.
- This case highlights the importance of comprehensive diagnostic workup for unexplained neurological symptoms.
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