Status dystonicus associated with CLN8 disease

YILDIRIM M., KÖSE E., Keceli A. M., Balasar O., Simsek N.

BRAIN & DEVELOPMENT, cilt.43, sa.4, ss.571-575, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 4
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.braindev.2020.12.005
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.571-575
  • Anahtar Kelimeler: CLN8, Dystonia, Neuronal ceroid lipofuscinoses, Rhabdomyolysis, Status dystonicus
  • Ankara Üniversitesi Adresli: Evet

Özet

Background: Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we report the first case of CLN8 disease in the literature presenting with status dystonicus who responded well to pharmacological intervention.