Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

• Published in: Brain & development Vol. 42; no. 9; pp. 696 - 699
• Main Authors: Togashi, Noriko, Fujita, Atsushi, Shibuya, Moriei, Uneoka, Saki, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Jin, Kazutaka, Matsumoto, Naomichi, Haginoya, Kazuhiro
• Format: Report
• Language: English
• Published: 01.10.2020
• ISSN: 1872-7131
• DOI: 10.1016/j.braindev.2020.06.011

BACKGROUNDGeneralized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. CASE PRESENTATIONWe report on a long term follow-up of patient with de novo missense variant of DHDDS, who revealed non progressive nature. This 18-year-old woman presented non-progressive tremor since her early infancy. She had rare seizures. Her tremor was considered as cortical myoclonic tremor with giant somatosensory evoked potentials. CONCLUSIONIn patients with early onset, non-progressive tremor and rare generalized epilepsy phenotypes, DHDDS variants may be considered in the genetic differential diagnosis.