A Rare Case of Spasmus Nutans in an Infant

Abstract

We report a case of an otherwise healthy 23-month-old boy who presented with nystagmus, head shaking, and
abnormal head posture suggestive of spasmus nutans. Neuro-ophthalmologic exam revealed bilateral, low-amplitude, high-frequency, horizontal, disconjugate nystagmus that was more prominent in one eye along with head shaking and a head tilt or face turn. The rest of the exam and the systemic physical examination were normal. Magnetic resonance imaging of the brain did not disclose optic pathway glioma, which has been reported to cause spasmus nutans-like disease. Electroretinogram (ERG) was also recommended to rule out occult retinopathies. However, it was not done due to unavailability of the appropriate corneal electrode for his age. Instead, close follow-up was advised to monitor spontaneous improvement or resolution, or until the child comes of age that he can undergo ERG. This case highlights the management approach and rationale of patients with presumed spasmus nutans. Recognition of the triad of spasmus nutans allows for quick diagnosis and more focused and efficient investigation.