Sleep and Breathing Disturbance in Joubert Syndrome: A Case Report

Abstract

Joubert syndrome is a rare autosomal-recessive disease, and the description was coined by Dr. Marie Joubert in 1968 in a family presenting with breathing problems and certain central nervous system malformations in the form of hypotonia, cerebellar vermis hypoplasia, and developmental delay. There is a paucity of literature describing the clinical characteristics and types of sleep abnormalities in patients with Joubert’s syndrome. We report the case of a young child observed to have breathing difficulties since the early neonatal period. He was initially diagnosed with seizure disorder, with little improvement with antiepileptic medications. The child showed significant psychomotor retardation. Our patient continued to have breathing disorders, mainly recurrent apnoea and nocturnal hypoxemia, which further worsened the child’s development and mental status. A genetic study confirmed the diagnosis of Joubert’s syndrome, and polysomnography further confirmed the severity of sleep disorder of breathing, which included predominantly central apnoea. Bilevel positive airway pressure (BiPAP) therapy was initiated and resulted in a marked improvement in the apnoea/hypopnoea index (AHI) and sleep quality, especially in the rapid eye movement (REM) stage. As the clinical manifestations proven to be atypical, it might be very challenging for health care providers to prove the diagnosis. We highlight some difficulties faced when encountering these patients, starting from diagnostic confirmation, therapeutic intervention to the prognosis and outcome of such condition.