A Case of Infantile Nystagmus in a Child with Schizencephaly

ABSTRACT

PURPOSE: Nystagmus is a rare involuntary eye movement which has no known, specific, underlying diseases. Schizencephaly is also a rare disease. A child with generalized developmental delay came to the pediatric clinic. He showed schizencephaly on MRI, and was referred to department of rehabilitation. During rehabilitative evaluation, the patient was referred to the department of ophthalmology due to esotropia. We found that the patient had little esotropia, but did have nystagmus. Therefore, we report a case of congenital nystagmus associated with schizencephaly. METHODS: A one-year-old boy showing schizencephaly on MRI and esotropia underwent examination. RESULTS: The patient did not have a remarkable past or familial history, and didn't show any other anomaly. There were no abnormal findings on slit lamp examination, and according to strabismus studies, he showed very little esotropia. He did show nystagmus. We couldn't find any significant refractive error or ocular dysfunction on cycloplegic refraction and fundus examination, respectively. Visual evoked potential showed normal findings. On MRI, ordered by the pediatrician, open-lip type schizencephaly on the right frontal lobe and absence of septum pellucidum were seen. There was no endocrinologic abnormality. CONCLUSIONS: We report the case of a child with congenital nystagmus accompanied by schizencephaly, and present a literature review.