Idiopathic spasmus nutans

Spasmus nutans is a rare, idiopathic disorder aff ecting infants and young children (mostly between 4 and 12 months of age) and it spontaneously subsides after a period of few months or years. Spasmus nutans is characterized by a clinical triad: torticollis, head nodding and nystagmus, which is generally unilateral, horizontal, extremely rapid and of small amplitude. These symptoms can be associated with serious ocular diseases such as strabismus, refractive anomalies, amblyopia, congenital idiopathic nystagmus, retinal diseases (albinism, achromatopsia, congenital idiopathic night blindness) or intracranial disorders such as optic nerve hypoplasia, optic or chiasmic glioma, craniopharyngeoma, arachnoid cyst, thalamic neoplasm, and neurodegenerative diseases of the central nervous system. On diff erential diagnosis, attention should be paid to benign paroxysmal torticollis. Therefore, diagnostic procedure is to include neuropediatric and ophthalmologic work-up, electroencephalogram, neuroimaging, as well as electrophysiological eye assessment, i.e. visual evoked potential and electroretinogram testing. This report analyzes the condition of a 22-monthold boy with a normal perinatal history and normal psychomotor development, who occasionally, since the age of 8 months, tilts his head to the right side, with horizontal nystagmus of the right eye and head nodding. Detailed diagnostic assessment excluded all possible causes of the symptomatic spasmus nutans and consequently, we have concluded that the idiopathic disorder has been the cause of the clinic triad, referring to torticollis, head nodding and nystagmus. Subsequently, the boy is to be under close surveillance and additional diagnostic assessment on clinical indication.

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