Early neonatal presentation of Joubert syndrome: a case report

Abstract

Introduction: Joubert syndrome (JS) is a rare genetic disorder char­acterized by a distinctive midbrain-hindbrain malformation identifiable through brain imaging. Clinically, JS manifests as hypotonia, irregular respiratory patterns, oculomotor apraxia, ataxia, and developmental delay, and it is often accompanied by multi-organ involvement. Although no definitive treatment exists, early diagnosis is crucial for timely intervention and improved outcomes. This case report describes a neonatal presentation of JS, emphasizing the importance of early recognition and radiological data.

Case report: We present the case of a female neonate born at 39 weeks and 3 days, initially diagnosed with transient respiratory distress. The infant subsequently exhibited recurrent episodes of desaturation, abnormal eye movements, and hypotonia. Magnetic resonance imaging (MRI) revealed posterior fossa malformations consistent with JS, in­cluding vermian dysplasia, the characteristic “molar tooth sign” of the mesencephalon, and a “bat-wing” morphology of the fourth ventricle. Genetic testing confirmed JS. Further evaluations showed no evidence of systemic involvement.

Discussion: JS remains a diagnostic challenge due to its broad phenotypic spectrum. Early symptoms, such as respiratory distress and oculomotor abnormalities, can be subtle or mistaken for other neonatal conditions. MRI findings play a critical role in confirming the diagnosis, while genetic testing provides valuable information for family counseling. Comprehensive and multidisciplin­ary management, including neurological, oph­thalmological, and developmental monitoring, is key for improving patient outcomes. This case highlights the importance of early diagnosis and multidisciplinary care in rare genetic disorders such as JS.