A clinical case of fatal familial insomnia with a transient positive response to corticosteroids
| Autor: | Yulia A. Shpilyukova, Yury A. Seliverstov, Evgeniy P. Nuzhny |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Анналы клинической и экспериментальной неврологии, Vol 14, Iss 4, Pp 88-95 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2075-5473 2409-2533 |
| DOI: | 10.25692/ACEN.2020.4.12 |
| Popis: | Fatal familial insomnia (FFI) is a rare genetic human prion disease with an autosomal dominant pattern of inheritance caused by a D178N mutation in the PRNP gene. FFI is characterized by a variable clinical presentation and subacute manifestation. The latter prompts to consider autoimmune encephalitis as a differential diagnosis in the diagnostically challenging patients. Here, we present a clinical case of FFI that was initially misdiagnosed with autoimmune encephalitis. A 26-year-old woman presented with rapid development of diverse neurological features, autonomic and endocrine disturbances, which initially were considered as manifestations of an autoimmune disease due to the lack of clear indications of positive family history. She was started on corticosteroids with temporary stabilization and even with a mild improvement for several months. Progressive deterioration of her symptoms with development of the psychiatric and cognitive impairment, as well as subsequently received additional information regarding positive family history, prompted us to perform a PRNP gene test that revealed a D178N mutation and confirmed an FFI diagnosis. |
| Databáze: | Directory of Open Access Journals |
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