Neuronal Ceroid Lipofuscinosis: A Boy with Seizures and a Change in Visual Behavior

Abstract

A 7-year-old boy with a 2-year history of seizures presented 8 months after his parents noticed that he would not look directly at people, TV, books, or toys unless they were within 1–2 ft of his face. They noted that he adopted an anomalous head posture that he adjusted frequently to improve his view with eccentric fixation. These symptoms gradually worsened over the 8 months, with more trouble reading and writing in dim light, but he still recognized letters and sight words. No changes in ocular alignment or nystagmus were noted, and yearly optometry examinations had been normal over the preceding 2 years. Amblyopia was diagnosed by the optometrist 4 months after his parents first noticed his changes in visual behavior. Subsequently, two different pediatric ophthalmologists found a normal exam except for visual acuity which could not be corrected to better than 20/200–20/400 with both eyes viewing. There was no associated illness, trauma, or environmental exposure.