Paraneoplastic Encephalitis Presenting as Subacute Hemidystonia, Ataxia, and Status Epilepticus in a Man with Neurodevelopmental Disorder and a Scrotal Germ Cell Tumor
Giovanni Malaty1, Kevin Dang1, Shafeeq Ladha1, Michael Robers1, Abigail Tittle1, Nassim Matin1
1Barrow Neurological Institute
Objective:
To present a case of KLHL11-Ma2/Ta Antibody Encephalitis in a man with adult-onset seizures, ataxia, subacute cognitive decline, and hemidystonia found to be antibody positive with a scrotal mixed germ-cell tumor.
Results:
A 35-year-old man with callosal dysgenesis, ventriculomegaly, cerebellar atrophy and baseline cognitive impairment presented with first-time seizures. Initial workup was significant for noninfectious, noninflammatory CSF, negative CSF HSV PCR, and brain MRI revealing known developmental structural abnormalities plus right mesial temporal, thalamic, and hypothalamic FLAIR hyper-intensities thought to represent postictal reactivity. He was diagnosed with epilepsy and discharged on maintenance levetiracetam. He later developed unilateral dystonia, neurocognitive decline, and rapidly-progressive ataxia. He presented to our facility six months later in status epilepticus which resolved with a short course of IV anesthetics. Neurologic exam was notable for right-sided hemidystonia with upper and lower extremity posturing, ataxia, and impairments in executive function and language. Basic CSF studies were noninfectious, and an autoimmune/paraneoplastic antibody panel was sent. He was empirically treated with high-dose IV methylprednisolone for presumed encephalitis. Gender-specific malignancy screening revealed a diffusely-heterogeneous cystic vascular mass of the right testicle for which he underwent right radical orchiectomy. Pathology revealed mixed germ cell tumor. Antibody testing yielded high-reactive CSF KLHL11 antibody IgG and serum Ma2/Ta antibody IgG. He was further treated for paraneoplastic encephalitis with IVIg 2g/kg, for seizures with levetiracetam, and for dystonia with baclofen and diazepam. He improved and was discharged to acute rehabilitation.
Conclusions:
Seizures and cognitive changes are known clinical manifestations of paraneoplastic encephalitides. Dystonia is often seen in anti-Ma2 encephalitis, while KLHL11 encephalitis often presents with ataxia. While congenital brain malformations often feature epilepsy, intellectual delay, gait abnormalities, and spasticity, the presentation of new-onset unilateral dystonia, cognitive and behavioral changes, and epilepsy in adolescents or adults should prompt autoimmune/paraneoplastic workup.
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