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Disease Entity
Disease
Spasmus nutans syndrome is an acquired form of nystagmus that occurs in children typically within the first two years of life. It presents as a clinical triad of 1) nystagmus 2) head bobbing 3) torticollis. The current theory among researchers is that head bobbing and torticollis are compensatory mechanisms that improve vision by reducing the frequency and asymmetry of the nystagmus.
Etiology
In most cases, spasmus nutans syndrome is a benign idiopathic disorder, however studies with monozygotic twins have also revealed a possible familial component. Usually the disorder disappears by age three or four years. There are rare cases of spasmus nutan-like nystagmus that is associated with chiasmal or suprachiasmal lesions in the brain thus warranting consideration for neuroimaging on babies who present with this disorder. Furthermore, spasmus nutan-like nystagmus has also been associated with retinal dystrophies, such as congenital stationary night blindness, which can be confirmed by Electroretinography (ERG) and genetic testing, if indicated.
Diagnosis
The diagnosis of spasmus nutans syndrome is clinical can be made if all three components of the triad (head bobbing, torticollis and nystagmus) are present on exam. If there is additional concern for intracranial tumor or retinal dystrophy, neuroimaging and ERG (and/or genetic) testing can help evaluate for these potential findings.
Signs
Nystagmus in spasmus nutans syndrome, and its variant,s is usually bilateral and characterized by high frequency, small amplitude (shimmering) eye movements. This nystagmus has also been described as monocular, asymmetric, and occasionally intermittent. It can be horizontal, vertical, rotatory and variable in different gaze positions.
Some form of head bobbing and neck posturing is also present.
While it would be ideal to be able to determine whether a patient with nystagmus resembling spasmus nutans has associated intracranial abnormalities based on the eye and head movements alone, studies have indicated that there is no difference in exam findings between the patients with spasmus nutans syndrome findings with and without intracranial lesions. The differentiation must be made on the basis of neuroimaging. Clinical warning signs that warrant a more hasty referral for brain magnetic resonance imaging (MRI) include any evidence of optic nerve dysfunction such as optic disc pallor, optic disc edema or relative afferent pupillary defect.
A video demonstrating signs of spasmus nutans syndrome is shown below.
Diagnostic procedures
As previously discussed, the diagnosis of spasmus nutans syndrome is clinical but warrants consideration for other testing. MRI is generally more sensitive in revealing pathology in anterior visual pathway (i.e. optic nerve glioma) than computed tomography (CT) scan. In addition, MRI testing over CT scan removes the risk of radiation exposure to a growing child. However, general anesthesia sedation may be needed for MRI testing so it is important to counsel patients and families appropriately. ERG and/or genetic testing should be considered in children with nystagmus resembling spasmus nutans along with clinical signs of a retinal dystrophy (such as high refractive error, poor visual function, retinal abnormalities or paradoxical pupils).
Differential diagnosis
- Spasmus nutan-like nystagmus: nystagmus, head nodding and abnormal head position similar to spasmus nutans but symptoms are associated with low vision
- Optic nerve hypoplasia
- Achromatopsia
- Congenital stationary night blindness
- Bardet-Biedl syndrome
- Hypomyelination leukodystrophies
- Neurologic diseases
- Optic pathway glioma (chiasmal)
- Arachnoid cyst
- Opsoclonus-myoclonus syndrome
- Diencephalic syndrome
- Leigh syndrome
- Empty sella
- Thalamic neoplasm
- Idiopathic infantile nystagmus
Management
Aside from the aforementioned potential neuroimaging and ERG and/or genetic testing, there are no other management strategies. Spasmus nutans is typically a self-limited condition.
It is important to treat any underlying intracranial lesion if present and manage any concurrent ocular disorders like refractive error, strabismus and amblyopia.
Prognosis
The prognosis for spasmus nutans is generally very good. Long term follow up studies have shown that good visual acuity can be expected in patients with spasmus nutans syndrome. However, often subclinical nystagmus can persist until at least ages 5 to 12 years. In addition, patients with spasmus nutans syndrome have a higher incidence of amblyogenic refractive error, amblyopia, strabismus and developmental delay[1]. Close clinical monitoring is prudent to detect and manage comorbidities appropriately.
References
- Hennein L, Heidary G, Gaier ED, Gise R. Long-term visual outcomes in spasmus nutans. BMC Ophthalmol. 2024 Jun 12;24(1):253.
- Basic and Clinical Sciences Course (BCSC): Pediatric Ophthalmology and Strabismus. Childhood Nystagmus, Acquired Nystagmus: Spasmus Nutans.
- Gottlob I, Wizov SS, Reincecke RD. Spasmus nutans. A long-term follow up. Invest Ophthalmol Vis Sci. 1995;36(13): 2768-2771.
- Gottlob I, Zubcov AA, Wizov SS, Reinecke RD. Head nodding is compensatory in spasmus nutans. Ophthalmology. 1992 Jul;99(7):1024-31.
- Gottlob I, Zubcov A, Catalano RA, Reinecke RD. Koller HP, Calhoun JH, Manley DR. Signs distinguishing spasmus nutans (with and without central nervous system lesions) from infantile nystagmus. Ophthalmology. 1990 Sep;97(9):1166-75.
- Yoo TK, Han SH, Han J. RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus. J Neuroophthalmol. 2021 Mar 1;41(1):e91-e93. doi: 10.1097/WNO.0000000000000880. PMID: 31972715.
- Brodsky MC, Keating GF. Chiasmal glioma in spasmus nutans: a cautionary note. J Neuroophthalmol. 2014 Sep;34(3):274-5. doi: 10.1097/WNO.0000000000000121. PMID: 24699142.
- ↑ Hennein L, Heidary G, Gaier ED, Gise R. Long-term visual outcomes in spasmus nutans. BMC Ophthalmol. 2024 Jun 12;24(1):253.
