Sleep-related hypermotor seizures in aspartylglucosaminuria: A case report

Giovanni Ambrosetto, Margherita Santucci

Research output: Contribution to journalArticlepeer-review

Abstract

From the age of 24 years a young man with a definitive diagnosis of aspartylglucosaminuria (AGU) presented short-lasting sleep-related paroxysmal events characterized by sudden awakening with a frightened look, hyperventilation, and complex bilateral motor activity. Nocturnal video-polysomnography recorded several events consistent with a diagnosis of hypermotor epileptic seizures. This pattern of sleep-related epileptic seizures has been reported in rare familial cases, more often in cryptogenic and symptomatic patients in the spectrum of nocturnal frontal lobe epilepsy. Epilepsy and sleep-related nonepileptic problems are common in patients with AGU, but no case of hyperkinetic nocturnal frontal lobe seizures has been reported to date. Differential diagnosis of abnormal paroxysmal motor events in sleep is frequently a challenge for the clinician: Video-polysomnographic recordings might serve to identify the possible epileptic origin of some of the excessive motor activities during sleep referred in patients with AGU.

Original languageEnglish
Pages (from-to)1638-1640
Number of pages3
JournalEpilepsia
Volume50
Issue number6
DOIs
Publication statusPublished - Jun 2009

Keywords

  • Aspartylglucosaminuria
  • Hypermotor seizures
  • Nocturnal frontal lobe epilepsy
  • Sleep

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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