Τίτλος:
Paroxysmal eye-head movements in Glut1 deficiency syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objective: To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). Methods: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seiz ures in10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented longtermcourse. Episodes were brief (usually ,5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200to 800 ms. The movements were consistent with eye-head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Conclusions: Paroxysmal eye-head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder. © 2017 American Academy of Neurology.
Συγγραφείς:
Pearson, T.S.
Pons, R.
Engelstad, K.
Kane, S.A.
Goldberg, M.E.
De Vivo, D.C.
Περιοδικό:
Functional Neurology
Εκδότης:
Lippincott Williams and Wilkins
Λέξεις-κλειδιά:
glucose transporter 1; glucose transporter, age; Article; child; disease course; disease duration; disorders of carbohydrate metabolism; eye fixation; eye movement; eye movement disorder; female; gaze; glucose transporter 1 deficiency syndrome; head movement; human; infant; major clinical study; male; medical history; medical record review; metabolic encephalopathy; opsoclonus; paroxysmal eye head movement disorder; preschool child; priority journal; retrospective study; saccadic eye movement; school child; seizure; videorecording; Carbohydrate Metabolism, Inborn Errors; case report; deficiency; Dyskinesias; eye movement; head movement; pathophysiology; Seizures, Carbohydrate Metabolism, Inborn Errors; Child; Dyskinesias; Eye Movements; Female; Head Movements; Humans; Infant; Male; Monosaccharide Transport Proteins; Retrospective Studies; Seizures; Video Recording
DOI:
10.1212/WNL.0000000000003867
