[Spasmus nutans and vermian agenesis: case report]

Spasmus nutans is a syndrome occurring in infants comprising a symptomatic triad: torticollis, head nodding and nystagmus. Neuropediatric and ophthalmologic investigation are normal. No case of association with non-evolutive encephalopathy has been reported to date. We report on a case of spasmus nutans-associated agenesis of the median vermian cerebellum.

A 3-month-old female infant was hospitalized for head nodding lasting 1 week and nystagmus of the left eye with no other signs. A lung infection had preceded the clinical signs. The ophthalmologic examination and electroencephalography (EEG) were normal. The cerebral MRI showed an objective partial agenesis of the median vermian cerebellum. The diagnosis of spasmus nutans-associated brain malformation was retained.

The discovery of non-evolutive encephalopathy was associated with spasmus nutans. A genetic study is required.