Abstracts

RATIONALE: Objective - Case description of new onset narcolepsy and epilepsy with pathology suggestive of a Rasmussen[ssquote]s syndrome variant to illustrate the possible autoimmune basis of these disorders.
METHODS: Case report
RESULTS: A 40-year-old man with no past medical history developed excessive daytime somnolence (EDS) over 2 months. He shortly developed cataplexy, hypnopompic hallucinations, and sleep paralysis. Narcolepsy was confirmed with a mean sleep latency of less than 2 minutes and 5/5 sleep onset REMs, but no evidence of sleep-disordered breathing. Brain MRI done at onset of EDS was normal. There were no other constitutional or neurologic symptoms. He denied prior history of EDS, snoring or parasomnias. He had recently traveled to Cambodia, and his EDS began while in New Zealand.
One year later he developed left temporal lobe seizures. A brain MRI showed an indistinct area of increased T2 signal with minimal contrast enhancement in the left temporal area extending into the inferior frontal and insular regions, believed initially to be an unresectable tumor. Three months later, he was hospitalized in complex partial status epilepticus. Biopsy and subsequent palliative partial resection of the anterior left temporal lobe excluded a brain tumor and was most consistent with an encephalitic process, similar to Rasmussen[ssquote]s syndrome. There were microglial nodules, acute and chronic lesions with interspersed patches of normal brain tissue, and perivascular leukocytes without vessel necrosis. The involved areas also showed disorganization of normal cortical lamination. An extensive search for infectious, autoimmune, neoplastic and paraneoplastic causes was negative.
Four years later, his stereotyped events continue. They begin with an indescribable feeling followed by a sense of tightness in his right foot, then right shoulder then hand, sometimes associated with flexion of that hand. The feeling moves to his right face and he develops hypersalivation, left eyelid twitching, dilation of the left pupil and hears a voice speaking to him in Cambodian. He can speak but has altered responsiveness and no recall of a phrase or pinch given during the event. MRIs are stable since the temporal lobectomy. EEG monitoring and ictal SPECT showed the seizure onset in the left anterior insula and mesial temporal lobe. A further surgical resection is planned this summer.
A recent lumbar puncture showed no oligoclonal bands or elevated leukocytes. He is positive for HLA-DQB1*0602 and CSF analysis found no detectable hypocretin, consistent with narcolepsy. Repeat sleep studies have shown decreased mean sleep latency and sleep-onset REM periods.
CONCLUSIONS: This case is novel because of the association of narcolepsy and Rasmussen[ssquote]s syndrome, which has not been previously described. Both disorders are postulated to have an autoimmune basis (Rogers et al., Science 1994;265:648-651 and Lin et al., Journal of Neuroimmunology 2001;117(1-2):9-20). Because our patient developed both disorders within a year, our case supports the autoimmune etiology of these disorders. The inciting trigger, viral or otherwise, of these two disorders in this patient awaits further study.