The child with jerking eyes and gait

Ev, Cherian; Kv, Shenoy; Shetty, Gautam M.; Nr, Ambati

doi:10.1136/bcr-2012-008236

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2022

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“…7 It consists of cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. 8,9 From a histopathologic point of view, there is a loss of Purkinje cells within deep cerebellar nuclei, faulty decussating of the superior cerebellar peduncle, and hypoplasia of the inferior olives and other brain stem nuclei. 10 The typical neurological presentation includes hypotonia, delayed developmental milestones, and breathing dysregulation (e.g., episodic tachypnea, apnea).…”

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confidence: 99%

Ophthalmological Findings in Joubert Syndrome and Related Disorders

Ceravolo

Granata

Gitto

et al. 2022

Journal of Pediatric Neurology

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Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the cerebellar vermis resulting in breathing defects, ataxia, and delayed development. Ophthalmological examination reveals eye involvement with nystagmus and retinal defects. Genetic counseling is important for the prevention of new cases. Great advances have been made in recent years. Management is symptomatic and multidisciplinary. In the present review, we discussed the most frequent ophthalmological anomalies associated with JS and speculated on the role of ciliary physiology in eye development.

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