Dados do Trabalho

Título

ATYPICAL PRESENTATION OF RASMUSSEN ENCEPHALITIS: A MISSING DIAGNOSIS

Apresentação dos casos

We describe three cases of atypical Rasmussen encephalitis (RE) presentations. Case 1: 6-years-old healthy girl with focal seizures characterized by visual aura followed by left motor seizures. EEG showed slow and epileptiform discharges (ED) in the right posterior region. First MRI revealed right occipital hypersignal and global cerebral atrophy; slightly more on the right hemisphere (RH). The following MRIs (1 and 2 years later) and PET demonstrated the progressive RH atrophy and the diffuse RH hypometabolism, respectively. Anti-seizure medications (ASM) were started without seizure control. She developed epilepsia partialis continua and a progressive left hemiparesis. Case 2: 3-years-old healthy boy with right hemiparesis. MRI showed white matter bilateral hypersignal suggesting a demyelinating process associated with global and asymmetric cerebral atrophy (left worsen). He was treated with methylprednisolone with partial improvement. Four months later he started right focal motor seizures. EEG showed diffuse asymmetric encephalopathy epileptic (worse on the left). Many ASM was used without success. Immunotherapy was performed with partial seizures control. After all, the left cerebral atrophy as well as the right hemiparesis progressed. He underwent left hemispherotomy (HE) with good seizure outcome. Anatomopathological study was consistent with RE. Case 3: 12-years-old healthy boy with left hemiclonic seizures and progressive left hemiparesis. Trials of ASM were used without success and he finally developed an epilepsia partialis continua. EEG evidenced lateralized right abnormalities. Four MRIs during the first 3 years of disease were unremarkable. Rheumatologic, inflammatory, metabolic and paraneoplastic work-up were negative. PET showed right lateralized abnormalities. He underwent a brain biopsy and the anatomopathological study was compatible with RE. Finally, a right HE was performed with good seizure outcome.

Discussão

RE has well-defined clinical, electrophysiological and neuroimaging characteristics. There are few case reports with an unusual presentation. Here we presented one case with occipital onset, one case mimicking demyelinating disease and another case without atrophy on MRI.

Comentários finais

HE is considered a curative treatment for RE and delay in surgery can cause long-lasting negative consequences, therefore knowledge about atypical presentations is crucial to offer the appropriate treatment in appropriate time.

Referências

Thomé U, Batista LA, Rocha RP, Terra VC, Hamad APA, Sakamoto AC, Santos AC, Santos MV, Machado HR. The Important Role of Hemispherotomy for Rasmussen Encephalitis: Clinical and Functional Outcomes. Pediatr Neurol. 2024 Jan;150:82-90. doi: 10.1016/j.pediatrneurol.2023.10.016. Epub 2023 Oct 28. PMID: 37992429.

Thomé U, Machado HR, Santos MV, Santos AC, Wichert-Ana L. Early Positive Brain 18F-FDG PET and Negative MRI in Rasmussen Encephalitis. Clin Nucl Med. 2023 Mar 1;48(3):240-241. doi: 10.1097/RLU.0000000000004521. Epub 2023 Jan 10. PMID: 36723884.

Nava BC, Costa UT, Hamad APA, Garcia CAB, Sakamoto AC, Aragon DC, Machado HR, Santos MV. Long-term seizure outcome and mobility after surgical treatment for Rasmussen encephalitis in children: A single-center experience. Epileptic Disord. 2023 Oct;25(5):749-757. doi: 10.1002/epd2.20147. Epub 2023 Aug 17. PMID: 37589547.

Varley JA, Strippel C, Handel A, Irani SR. Autoimmune encephalitis: recent clinical and biological advances. J Neurol. 2023 Aug;270(8):4118-4131. doi: 10.1007/s00415-023-11685-3. Epub 2023 Apr 28. PMID: 37115360; PMCID: PMC10345035.

Palavras Chave

Rasmussen Encephalitis; autoimmunity; epilepsy