Joubert Syndrome: A Rare Cause of Hypotonia and Developmental Delay in Infancy and Childhood

Abstract

Pediatricians not uncommonly encounter children with
hypotonia and developmental delay. Joubert syndrome is a rare
autosomal recessive condition that is associated with
hypotonia, developmental delay, abnormal eye movement,
breathing problems and cerebellar dysfunction. Joubert
syndrome was first described by French neurologist Marie
Joubert in 1969.[1] Joubert syndrome is an autosomal recessive
disorder with significant genetic heterogeneity that is
associated with cerebellar vermis hypoplasia and the pontomesencephalic
molar tooth sign, deepening of the
interpenduncular fossa with thick and straight superior
cerebellar penduncles. It is associated with hypotonia, ataxia,
and characteristic breathing abnormalities including episodic
apnea and hyperpnea, global developmental delay, nystagmus,
strabismus and oculomoter apraxia.[2]