Paroxysmal eye-head movements in Glut1 deficiency syndrome
Toni S Pearson1, Roser Pons1, Kristin Engelstad2
1From the Colleen Giblin Research Laboratory (K.E., D.C.D.), Division of Pediatric Neurology, Department of Neurology (T.S.P., R.P.), Department of Ophthalmology, Edward S. Harkness Eye Institute (S.A.K.), Mahoney-Keck Center for Brain and Behavior Research (M.E.G.), Department of Neuroscience (M.E.G.), and the Departments of Neurology, Psychiatry, and Ophthalmology (M.E.G.), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (T.S.P.), Washington University School of Medicine, St. Louis, MO; First Department of Pediatrics (R.P.), National and Kapodistrian University of Athens, Aghia Sofia Hospital, Greece; Kavli Institute for Neuroscience (M.E.G.), Columbia University; and the Division of Neurobiology and Behavior (M.E.G.), New York State Psychiatric Institute, New York. tpearson@wustl.edu roserpons@med.uoa.gr.
Insights
Infants with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) can exhibit paroxysmal eye-head movements, termed aberrant gaze saccades. Early recognition of these episodes aids in diagnosing this treatable neurodevelopmental disorder.
Area of Science:
- Neurology
- Pediatric Neurology
- Neurodevelopmental Disorders
Background:
- Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) is a rare metabolic disorder affecting glucose transport into the brain.
- Infantile-onset symptoms of Glut1 DS can be diverse and challenging to diagnose.
- Characteristic paroxysmal eye-head movements in infants with Glut1 DS have not been well-described.
Observation:
- A retrospective review of 101 patients with Glut1 DS identified paroxysmal abnormal eye movements in 32% of cases.
- In 18 detailed cases, these episodes often began before 6 months of age and could precede seizures.
- Video analysis revealed rapid, multidirectional eye movements associated with same-direction head movements, consistent with aberrant gaze saccades.
Findings:
- The described eye-head movements, termed aberrant gaze saccades, are distinct from opsoclonus due to clear fixation intervals and head movement association.
- Episodes were typically brief (<5 minutes) and resolved by age 6 in most cases.
- Aberrant gaze saccades represent an early symptom of Glut1 DS in infancy.
Implications:
- Prompt recognition of aberrant gaze saccades can facilitate earlier diagnosis of Glut1 DS.
- Early diagnosis allows for timely initiation of treatment, potentially improving neurodevelopmental outcomes.
- This finding expands the clinical spectrum of early infantile symptoms associated with Glut1 DS.
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 seizures in 10/16 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 long-term course. 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 200 to 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.
Related Concept Videos
01:25Glaucoma: Overview
01:17Accessory Structures of the Eye