Long-term visual outcomes in spasmus nutans.

BACKGROUND: The long-term visual outcomes in spasmus nutans patients is largely unknown. The purpose of this study was to characterize visual outcomes and identify comorbid ophthalmic conditions in patients with spasmus nutans. METHODS: We retrospectively reviewed the charts of consecutive patients diagnosed with spasmus nutans between 2000 and 2020. Demographic information, ophthalmic characteristics, and neuroimaging results were assessed over time. RESULTS: Of the 32 patients included in the study, 13 (41%) were female. Underlying medical conditions included a diagnosis of Trisomy 21 in 6 (19%) and prematurity in 8 (25%). Twenty-one patients (66%) self-reported as a race other than Caucasian. 18 patients (56%) had non-private health insurance and 1 (3%) was uninsured. Mean age at diagnosis and resolution were 16 months (range 45 months) and 48 months (range 114 months), respectively. All 32 patients had nystagmus, 31 (97%) had head nodding and 16 (50%) had ocular torticollis. Mean follow-up was 66 months (range 185 months). On initial presentation, 6/32 (19%) had an amblyogenic refractive error and mean best-corrected visual acuity (BCVA) in the better-seeing eye was 0.78 Logarithm of the Minimum Angle of Resolution (LogMAR) (range 1.24). In a sub-analysis that included patients with > 1 exam (n = 23), 17/20 (85%) had an amblyogenic refractive error and mean BCVA in the better-seeing eye was 0.48 LogMAR (range 1.70). At the final exam, 12 patients had measurable stereopsis, eight had strabismus, and three had undergone strabismus surgery. Eight patients required treatment for amblyopia. CONCLUSIONS: We found a high prevalence of amblyogenic refractive error, strabismus and amblyopia among patients with spasmus nutans. Children with spasmus nutans benefit from ongoing ophthalmic follow-up until they are past the amblyopic age range, even after resolution of nystagmus.

Trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia / Transient benign paroxysmal movement disorders in infancy

Introducción: Los trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia engloban un grupo de trastornos que aparecen durante el período neonatal y en los primeros años de vida, y que desaparecen espontáneamente sin dejar secuelas. El objetivo de este artículo fue revisar los principales trastornos paroxísticos del movimiento de carácter benigno y transitorio en la infancia, centrándose principalmente en el enfoque utilizado para su reconocimiento y diagnóstico. Desarrollo: En general, estos trastornos presentan entidades como temblores, mioclonías neonatales benignas del sueño, estremecimientos, mioclonías benignas de la infancia temprana, distonía transitoria idiopática del lactante, espasmo nutans, desviación tónica paroxística de la mirada hacia arriba en la infancia y tortícolis paroxística benigna. Conclusiones: Los trastornos paroxísticos del movimiento de carácter benigno y transitorio son episodios paroxísticos no epilépticos, cuyo diagnóstico es eminentemente clínico. Es crucial reconocer correctamente estas entidades para evitar los estados de ansiedad y la necesidad de realizar exámenes complementarios y tratamientos innecesarios.(AU)

Introduction: Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that spontaneously disappear without leaving consequences. This article aimed to review the main transient benign paroxysmal movement disorders in infancy, focusing on recognition and diagnostic approach. Development: Overall, it includes entities such as: jitteriness, benign neonatal sleep myoclonus, shuddering, benign myoclonus of early infancy, transient idiopathic dystonia in infancy, spasmus nutans, paroxysmal tonic upgaze of infancy, and benign paroxysmal torticollis. Conclusion: Transient benign paroxysmal movement disorders are non-epileptic paroxysmal episodes, and their diagnosis is eminently clinical. The correct recognition of these entities is crucial to avoid anxiety, unnecessary complementary exams, and treatments.(AU)

Eye oscilations with neurological implications in pediatric age.

INTRODUCTION: Eye oscillations, both nystagmic and non-nystagic, can occur from birth. Most correspond to infantile nystagmus that dubates in the first six months of life, which include idiopathic, sensory, latent, or overt latent motor nystagmus. Those associated with neurological diseases or syndromes correspond to approximately 33%, their identification and correct evaluation being important given the potential visual and vital complications. MATERIAL AND METHODS: We made a systematic review of the literature on supranuclear gaze control mechanisms and the main ocular oscillations with possible neurological implications, both in childhood. With this, we intend to assess if there are already established clinical-anatomical associations, and to propose a protocol on the complementary studies to be carried out in these cases. RESULTS: There are still anatomical pathways involved in supranuclear gaze control that are not fully clarified and understood. Besides, except in the case of nystagmus in seesaw and upbeat, we did not find anatomical explanations for their pathogenesis. The need for complete neuro-ophthalmological physical examinations and the request for additional tests in children who present ocular oscillations with neurological characteristics are clear. CONCLUSIONS: Supranuclear gaze control follows a complex neurological network that still needs to be studied better. With a better dissection of the same we could try to understand why the ocular oscillations that we studied have these specific forms of presentation. As for the complementary requests, the request for neuroimaging tests is practically constant, making the others according to the specific case before which we find ourselves.

Oscilaciones oculares con implicaciones neurológicas en la edad infantil / Eye oscilations with neurological implications in pediatric age

Introducción Oscilaciones oculares, tanto nistágmicas como no nistágmicas, pueden ocurrir desde el nacimiento. La mayoría corresponden a nistagmos infantiles que aparecen en los seis primeros meses de vida, donde se incluyen el nistagmo motor idiopático, sensorial, latente o latente manifiesto. Aquellas asociadas con enfermedades o síndromes neurológicos corresponden aproximadamente al 33%, siendo importante su identificación y correcta valoración dadas las potenciales complicaciones tanto visuales como vitales. Material y métodos Hemos realizado una revisión sistemática de la literatura sobre los mecanismos de control supranuclear de la mirada y de las principales oscilaciones oculares con posibles implicaciones neurológicas, ambas en la edad infantil. Pretendemos con ello valorar si existen asociaciones clínico-anatómicas ya establecidas, y plantear un protocolo sobre los estudios complementarios a realizar en estos casos. Resultados Existen todavía vías anatómicas implicadas en el control supranuclear de la mirada que no están totalmente esclarecidas y entendidas. Además, salvo en el caso de los nistagmos en seesaw y en upbeat, no hemos encontrado explicaciones anatómicas sobre la patogénesis de los mismos. Sí que queda clara la necesidad de realizar exploraciones físicas neurooftalmológicas completas y la petición de pruebas complementarias en los niños que presenten oscilaciones oculares con características neurológicas. Conclusiones El control supranuclear de la mirada sigue una compleja red neurológica que aún necesita ser estudiada en mayor profundidad. Con una mejor definición de la misma podríamos intentar entender por qué las oscilaciones oculares que estudiamos tienen esas formas de presentación específicas. En cuanto a las peticiones complementarias, es prácticamente constante la solicitud de pruebas de neuroimagen, realizando las demás según el caso concreto ante el que nos econtremos. (AU)

Introduction Eye oscillations, both nystagmic and non-nystagmic, can occur from birth. Most correspond to infantile nystagmus that appears in the first six months of life, which include idiopathic, sensory, latent, or overt latent motor nystagmus. Those associated with neurological diseases or syndromes correspond to approximately 33%, their identification and correct evaluation being important given the potential visual and vital complications. Material and methods We made a systematic review of the literature on supranuclear gaze control mechanisms and the main ocular oscillations with possible neurological implications, both in childhood. With this, we intend to assess if there are already established clinical-anatomical associations, and to propose a protocol on the complementary studies to be carried out in these cases. Results There are still anatomical pathways involved in supranuclear gaze control that are not fully clarified and understood. Besides, except in the case of nystagmus in seesaw and upbeat, we did not find anatomical explanations for their pathogenesis. The need for complete neuro-ophthalmological physical examinations and the request for additional tests in children who present ocular oscillations with neurological characteristics are clear. Conclusions Supranuclear gaze control follows a complex neurological network that still needs to be studied better. With a better definition thereof we could try to understand why the ocular oscillations that we studied have these specific forms of presentation. As for the complementary requests, the request for neuroimaging tests is practically constant, making the others according to the specific case before which we find ourselves. (AU)

[Etiological assessment of a nystagmus in childhood]. / Le bilan étiologique d'un nystagmus chez l'enfant.

Apart from the latent nystagmus, which arises as a consequence of failure to develop binocular vision, every case of childhood nystagmus needs an etiological assessment. Knowledge of the pathogenesis of the various types of nystagmus guides this assessment, particularly considering the morphological characteristics of the nystagmus. The clinical ophthalmologic examination is complemented by OCT and electrophysiologic testing (ERG, VEP). If this testing is normal, an MRI and genetic assessment are required.

Long-Term Follow-up of Spasmus Nutans.

PURPOSE: Spasmus nutans is an acquired form of nystagmus that is classically associated with torticollis and titubations of the head, often presenting in the first year of life and spontaneously resolving within the next 2 years. The purpose of our study was to record and characterize the long-term prognosis of children diagnosed with spasmus nutans. METHODS: All patients under the age of 21 years with a diagnosis of spasmus nutans were included. Parameters of age, nystagmus symmetry and quality, presence of titubations, torticollis, and strabismus, and findings on CT or MRI were recorded. RESULTS: Our 22 patients had an average age of onset of 9.8 and a follow-up of 62.6 months. Nystagmus was unilateral in 5 children, asymmetric in 5, symmetric in 10, and inapparent in 2. Titubations were identified in 10 and torticollis in 7. Nystagmus persisted in 16 of 20 children, titubations in 3, and torticollis in 6. Neuroimaging, performed on 17 of the 22 children, was negative for any space-occupying lesions. CONCLUSION: In conclusion, we are reluctant to assure parents of children who have even the most typical spasmus nutans that their child will be normal after a predictable interval. Instead, we advise them that many children do well, assuming normal imaging, but that nystagmus, torticollis, and even titubations may persist. Follow-up, especially for strabismus and amblyopia, should be continued throughout childhood.

A child with benign neonatal jitteriness and spasmus nutans.

This patient, a 26-month-old girl, developed benign neonatal jitteriness soon after birth that subsequently resolved at 3 months of age. At 6 months of age, she developed spasmus nutans with left monocular nystagmus and head shaking in a "no-no" pattern. Physical examination was otherwise unremarkable. Magnetic resonance imaging (MRI) of the brain, optic nerves, and orbits was normal. The spasmus nutans also gradually resolved by 18 months of age. To our knowledge, the co-occurrence of these 2 benign movement disorders in an individual has not previously been reported. The pathogenesis of benign neonatal jitteriness and spasmus nutans is unknown. Their co-occurrence may reflect a shared underlying mechanism.