ORIGINAL CONTRIBUTION Spasmus Nutans-Like Nystagmus is Often Associated With Underlying Ocular, Intracranial, or Systemic Abnormalities Gregory D. Kiblinger, MD, Billi S. Wallace, MD, Mujahid Hines, BS, and R. Michael. Siatkowski, MD Background: There is uncertainty as to whether spasmus nutans (SN) is an isolated idiopathic entity or whether there are underlying conditions that could cause or be associated with the nystagmus. We undertook this study to determine the frequency of ocular, intracranial, and systemic conditions in patients with nystagmus having characteristics of SN. Methods: We performed a chart review of 22 consecutive patients examined from 2000 through 2005 at the Dean McGee Eye Institute and Children’s Hospital of Oklahoma with nystagmus consistent with SN. We collected information related to gender, age at presentation and age at final visit, visual acuity, refractive error, laterality of nystagmus, presence of head nodding and torticollis, pattern of strabismus, neuroimaging and electroretinography results, and other associated clinical findings. Results: Visual acuity was reduced in 75% of eyes at presentation and 58% of eyes at last visit. Eight patients had significant refractive error. Seven patients had strabismus. Two patients had chiasmal gliomas. Four patients had cone or rod/cone dystrophy. Only three patients had no associated ocular, intracranial, or systemic conditions. Conclusions: A substantial proportion of patients presenting with SN-like nystagmus have important underlying ocular, intracranial, or systemic abnor- malities that may require evaluation and management. (J Neuro-Ophthalmol 2007;27:118–122) S pasmus nutans (SN) is a rare, idiopathic disorder of childhood comprising the clinical triad of nystagmus, head nodding, and torticollis. This triad classically presents in the first year of life and symptoms typically resolve by 3–6 years of age (1). Recent evidence, however, points to persistence of subclinical nystagmus as measured by eye movement recordings up to age 12 (2). The nystagmus in SN is typically horizontal and pendular, of small amplitude and high frequency, inter- mittent, and marked by asymmetry with occasional unilaterality. Eye movement recordings quantify an ampli- tude of up to 3° and a frequency of up to 15 Hz (3). Rather than being a pathologic involuntary movement, head nodding has been shown in some cases to be compensatory, with the ability to suppress nystagmus and aid vision (4,5). Simi- larly, the torticollis has been observed clinically and by electrooculography (EOG) recordings to dampen nystag- mus by a hypothesized vestibular mechanism (6). Like the nystagmus, the head nodding and torticollis may be inter- mittent as well. First described by Raudnitz (7) in 1897, SN has traditionally been considered a benign, self-limited disor- der. Early observations related SN to low socioeconomic status (7–10) inadequate light exposure (7,8), rickets (7,9, 10), syphilis (8), malnutrition (8), crowded living condi- tions (8), trauma (8), epilepsy (8), and black race. (7,9,10). Based on data derived from patient questionnaires, Wizow et al (11) reported a higher incidence of SN than of idio- pathic infantile nystagmus in African Americans, His- panics, children with decreased home luminance at birth, families of lower socioeconomic status, and patients with parental psychiatric disease. Maternal alcohol abuse (12) and child abuse/neglect (13) have also been implicated as risk factors for SN. Intracranial pathology has been reported in associ- ation with a constellation of symptoms similar to SN since Kelly (14) first reported a case of optic glioma presenting with SN-like symptoms. There have been subsequent reports of gliomas involving the optic nerve and chiasm (15–18). Other neurologic associations include a thalamic neoplasm (19), arachnoid cyst (20), opsoclonus-myoclonus Dean A. McGee Eye Institute, Oklahoma City, Oklahoma. No financial interests exist with any of the authors. This work was supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., New York, NY (to RMS). Address correspondence to R. Michael Siatkowski, MD, Dean A. McGee Eye Institute, 608 Stanton L. Young Boulevard, Oklahoma City, OK 73104; E-mail: Rmichael-siatkowski@dmei.org 118 J Neuro-Ophthalmol, Vol. 27, No. 2, 2007