Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia

Abstract

Chronic ataxia is a challenging problem in paediatric neurology. It is caused by a multitude of disorders that at least initially have similar or non-specific phenotype. Some of these disorders have associated neuroophthalmological signs (N-OS). The aims of this study are to describe the N-OS and their frequencies in general and by disease aetiology in paediatric patients with chronic ataxia. The authors identified 184 patients under age 17 years with chronic ataxia (42 months duration or recurrent) during 1991-2008 from multiple sources. Diagnoses and N-OS were ascertained following charts review. Mean age (SD) was 15 (7.7) years. Median duration of follow-up was 6.4 years. There were 214 N-OS in 115 patients (median = 2, range = 1-5 N-OS/ patient). Strabismus was present in 29.3% of patients, nystagmus 27.7%, impaired smooth pursuit 23.4%, hypometric saccades 10.3%, decreased visual acuity 9.2%, abnormal optic discs 8.7%, abnormal pupillary examination 2.7%, hypermetric saccades 2.2%, impaired ductions 1.6%, and abnormal visual fields in 1.1% of patients. N-OS were reported most commonly among patients with the following disorders (commonest N-OS): hypoxic-ischaemic encephalopathy following birth (strabismus), episodic ataxia (nystagmus), neuronal ceroid lipofuscinosis (abnormal optic discs), neuronal migration disorder (strabismus), ischaemic stroke (nystagmus), Joubert syndrome-related disorders (strabismus), leukodystrophy (nystagmus), Friedreich ataxia (hypometric saccades, impaired smooth pursuit, nystagmus), mitochondrial disease (strabismus, nystagmus), ataxia telangiectasia (impaired smooth pursuit), and Angelman syndrome (strabismus). N-OS occur commonly in children with chronic ataxia. Although non-specific, they vary with disease aetiology, potentially aiding in the assessment of these patients.

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

“…6/11 individuals of the cohort showed increased tone and/or asymmetric movement patterns that largely resolved during childhood, including significant infantile dystonia in P9. Strabismus is seen in 84% of the previously published individuals we reviewed [1e3, 7,8,10,12,13] and 82% of individuals reported in this study, whereas in a series of pediatric patients with different chronic ataxias, only 29% exhibited strabismus [23].…”

A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective

“…Oculomotor apraxia is a highly suggestive symptom of cerebellar malformation also in toddlers and older children. Saccadic initiation failure is the most common eye movement abnormality, being saccades hypometric or absent ( Tusa and Hove, 1999 ; Salman and Chodirker, 2015 ). Furthermore, more complex abilities, such as tandem gait or finger-nose and heel-shin tests, cannot be examined before 4 years of age or according to the cooperation skills of the child.…”

Review of Ocular Manifestations of Joubert Syndrome

“…Strabismus is frequent in JS, as in other diseases associated with non-progressive cerebral or cerebellar abnormalities [113], and in one small series it was the most common neuro-ophthalmologic abnormality [113]. It can present as horizontal or vertical misalignment, esotropia or exotropia, fixed or alternating, but most often it presents as elevation of the abducting eye and depression of the adducting eye in lateral gaze [8,9,10,21,76,80,95,114,115].…”

“…In a study of neuro-ophthalmological findings in pediatric patients with chronic ataxia, it was found that diseases associated with non-progressive cerebral or cerebellar abnormalities like JS and related disorders were associated with high prevalence of strabismus. Four out of five of the patients with JS surveyed displayed neuro-ophthalmologic features, the most common feature being strabismus [113].…”