A clinical case of fatal familial insomnia with a transient positive response to corticosteroids

Abstract

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.

About the authors

Yulia A. Shpilyukova

Research Center of Neurology, Moscow

Author for correspondence.
Email: nko@neurology.ru
Russian Federation

Yury A. Seliverstov

Research Center of Neurology, Moscow

Email: nko@neurology.ru
Russian Federation

Evgeniy P. Nuzhny

Research Center of Neurology, Moscow

Email: nko@neurology.ru
Russian Federation

References

  1. TakadaL.T., Kim M., Metcalf S.etal. Prion disease. In: Geschwind D.H., Paulson H.L., Klein C. (ed.) Handbook of Clinical Neurology, Vol. 148 (3rd series), Neurogenetics, Part II. 1st ed. Elsevier B.V., 2018: 441-464. doi: 10.1016/B978-0-444-64076-5.00029-6
  2. Cortelli P., Fabbri M., Calandra-Buonaura G. et al. Gait disorders in fatal familial insomnia. Mov Disord 2014; 29: 420–424. doi: 10.1002/mds.25786. PMID: 24375448.
  3. Brutyan A.G., Korepina O.S., Abramova A.A., Belyakova-Bodina A.I. [The role of electroencephalography in the diagnosis of Creutzfeldt-Jakob disease]. Nervnyye bolezni 2019; (4): 24–31. doi: 10.24411/2226-0757-2019-12133. (In Russ.)
  4. Meggendorfer F. Klinische und genealogische Beobachtungen bei einem Fall von spastischer Pseudosklerose Jakobs. Zeitschrift für die gesamte Neurologie und Psychiatrie 1930; 128 (1): 337–341.
  5. Kretzschmar H.A., Neumann M., Stavrou D. Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue. Acta Neuropathol 1995; 89: 96–98. doi: 10.1007/bf00294264. PMID: 7709737.
  6. Lugaresi E., Medori R., Montagna P. et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med 1986; 315: 997–1003. doi: 10.1056/NEJM198610163151605. PMID: 3762620.
  7. Medori R., Tritschler H.J., LeBlanc A. et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 1992; 326: 444–449. doi: 10.1056/NEJM199202133260704. PMID: 1346338.
  8. Kim M.O., Takada L., Wong K. et al. Genetic PrP prion diseases. Cold Spring Harbor Perspect Biol 2018; 10: a033134. doi: 10.1101/cshperspect.a033134. PMID: 28778873.
  9. Goldfarb L.G., Petersen R.B., Tabaton M. et al. Fatal familial insomnia and familial Creutsfeldt-Jakob disease: disease phenotype determined by DNA polymorphism. Science 1992; 258: 806–808. doi: 10.1126/science.1439789. PMID: 1439789.
  10. Zerr I., Giese A., Windl O. et al. Phenotypic variability in fatal familial insomnia (D178N-129M) genotype. Neurology 1998; 51: 1398–1405. doi: 10.1212/wnl.51.5.1398. PMID: 9818868.
  11. Zarranz J.J., Digon A., Atares B. et al. Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry 2005; 76: 1491–1496. doi: 10.1136/jnnp.2004.056606. PMID: 16227536.
  12. Brown P., Goldfarb L.G., Kovanen J. et al. Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation. Ann Neurol 1992; 31: 282–285. doi: 10.1002/ana.410310309. PMID: 1353342.
  13. Krasnianski A., Heinemann U., Ponto C. et al. Clinical findings and diagnosis in genetic prion diseases in Germany. Eur J Epidemiol 2016; 31: 187–196. doi: 10.1007/s10654-015-0049-y. PMID: 26076917.
  14. Gambetti P., Parchi P., Chen S.G. Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia. Clin Lab Med 2003; 23: 43–64. doi: 10.1016/S0272-2712(02)00065-3. PMID: 12733424.
  15. Guerreiro R.J., Vaskov T., Crews C. et al. A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Dis Assoc Disord 2010; 23: 415–417. doi: 10.1097/WAD.0b013e3181ae3a76. PMID: 19571725.
  16. Krasnianski A., Juan P.S., Ponto C. et al. A proposal of new diagnostic pathway for fatal familial insomnia. J Neurol Neurosurg Psychiatry 2014; 5: 654–659. doi: 10.1136/jnnp-2013-305978. PMID: 24249784.
  17. Krasnianski A., Bartl M., Sanchez Juan P. et al. Fatal familial insomnia: clinical features and early identification. Ann Neurol 2008; 63: 658–661. doi: 10.1002/ana.21358. PMID: 18360821.
  18. Collins S., McLean C.A., Masters C.L. Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies. J Clin Neurosci 2001; 8: 387–397. doi: 10.1054/jocn.2001.0919. PMID: 11535002.
  19. Wu L-Y., Zhan S-Q., Huang Z-Y. et al. Expert consensus on clinical diagnostic criteria for fatal familial insomnia. Chin Med J 2018; 131: 1613–1617. doi: 10.4103/0366-6999.235115. PMID: 29941716.
  20. Ibrahim R.B., Liu C., Cronin S.M. et al. Drug removal by plasmapheresis: an evidence‐based review. Pharmacotherapy 2007; 11: 1529–1549. doi: 10.1592/phco.27.11.1529. PMID: 17963462.
  21. Stevens J.M., Levine M.R., Constantino A.E., Motamedi G.K. Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto’s encephalopathy. BMJ Case Rep 2018; 2018: bcr-2018-225155. doi: 10.1136/bcr-2018-225155. PMID: 30012679.
  22. Jang J.W., Park S.Y., Park Y.H. et al. Symptomatic aggravation after corticosteroid pulse therapy in definite sporadic Creutzfeldt-Jakob disease with the feature of Hashimoto’s encephalopathy. BMC Neurol 2014; 14: 179. doi: 10.1186/s12883-014-0179-y. PMID: 25196053.
  23. Voigtländer T., Unterberger U., Touma C. et al. Prominent corticosteroid disturbance in experimental prion disease. Eur J Neurosci 2006; 23: 2723–2730. doi: 10.1111/j.1460-9568.2006.04801.x. PMID: 16817875.

Statistics

Views

Abstract: 444

PDF (Russian): 136

Article Metrics

Metrics Loading ...

Dimensions

PlumX


Copyright (c) 2020 Shpilyukova Y.A., Seliverstov Y.A., Nuzhny E.P.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies