Vol. 6, Issue 2, Part A (2024)

Introduction: Oculomotor apraxia (OMA) is characterized by impaired voluntary eye movements, particularly in horizontal directions, while slow pursuit movements are retained. This study aims to investigate the clinical, laboratory, and neuroimaging features of OMA in pediatric patients, as well as its etiology, follow-up, and association with neurodevelopmental disorders. 
Methods: A retrospective analysis was conducted between January 2013 and January 2023 in a Portuguese tertiary hospital. 
Results: The sample comprised 19 patients, predominantly males (N=15; 78.9%), with onset age ranging from four months to 13 years-old (median= 23 months). Neurological changes were evident at referral, with additional alterations observed during follow-up, including ataxia and dysarthria. Analytical, metabolic, and genetic studies aided in diagnosing 12 patients, with six cases identified as idiopathic OMA. Among idiopathic OMA, familial history was present in two cases. During an average follow-up period, three patients with idiopathic OMA exhibited global developmental delay (GDD), and two had attention deficit hyperactivity disorder.
Discussion: The study highlights idiopathic OMA as a diagnosis of exclusion, often presenting with normal blood work and imaging studies. GDD is present in half of the cases, having been appropriately referenced. Familial associations, subtle MRI changes, and GDD suggest potential underlying genetic factors that warrant further investigation.