Congenital ocular motor apraxia (COMA) is characterized by an inability to initiate voluntary horizontal saccades, often leading patients to compensate with characteristic head thrusts. While COMA can sometimes present as an isolated ocular finding, it is frequently a manifestation of broader neurodevelopmental disorders. We report the case of a nine-month-old female infant presenting with developmental delay and abnormal eye movements. Examination revealed marked motor developmental delay, hypertonia, truncal arching, and poor head control. Notably, oculomotor apraxia requiring compensatory head thrusts was observed, although ocular motility was otherwise unrestricted with no nystagmus or strabismus. Brain MRI demonstrated the characteristic "molar tooth sign" with cerebellar vermis hypoplasia and thickened superior cerebellar peduncles, leading to a diagnosis of Joubert syndrome. The patient was referred for multidisciplinary management, including genetic testing, physical therapy, and genetic counseling. This case emphasizes that in pediatric patients presenting with COMA, comprehensive evaluation, including neuroimaging and developmental assessment, is essential, as isolated ophthalmological assessment may delay the diagnosis of underlying neurological conditions such as Joubert syndrome. Early identification enables appropriate management, surveillance for systemic complications, and timely genetic counseling, ultimately improving patient outcomes.
Ito et al. (Thu,) studied this question.