An infant with Joubert syndrome: A case report

Abstract

Joubert syndrome is a rare neurological and developmental malfunction represented by decreased muscle tone, ataxia, and delayed developmental milestones. Joubert syndrome-related disorders, besides central nervous system, can involve other systems and thus can lead to multi-organ malfunction. We report a case of pure Joubert syndrome who presented with developmental delay, decreased muscle tone, and ataxia. Identification of molar tooth sign on magnetic resonance imaging studies assisted to make a definitive diagnosis. Detailed examination revealed no other significant findings of any organ of the body. Patient was managed conservatively with symptomatic treatment. Although these types of cases are rarely encountered, they can lead to multiple organ disabilities. Therefore, clinicians should always keep this diagnosis in mind whenever an infant presents with the aforementioned neurodevelopmental symptoms.

Keywords

• Joubert syndrome
• Developmental milestones
• Neuropathological abnormalities