Case Series Volume 14 Issue 10 - 2025

Joubert Syndrome: A Case Report of Three Patients and Review of Literature

N Seghrouchni1*, Y Fahfouhi2, A Radi1, A Laaraje1, S Babour1, A Hassani1 and R Abilkassem1

1Pediatrics Department, Mohamed V Military Hospital, Rabat, Morocco

2Pediatrics Department, Children's Hospital, CHU IBN SINA, Rabat, Morocco

*Corresponding Author: N Seghrouchni, Pediatrics Department, Mohamed V Military Hospital, Rabat, Morocco.
Received: September 01, 2025; Published: September 15, 2025



Introduction: Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder characterized by the pathognomonic “Molar Tooth Sign” (MTS) on brain MRI, resulting from cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. It is now recognized as a multisystem ciliopathy with variable neurological, ocular, renal, and hepatic involvement.

Case Presentation: We report three pediatric Moroccan cases of JS. The first was an 8-year-old girl presenting with psychomotor delay, cerebellar ataxia, nystagmus, and conjunctival telangiectasia, with MRI revealing severe vermian hypoplasia and the MTS. The second case was a 19-month-old girl, born of consanguineous parents, who presented with developmental delay, hypotonia, facial dysmorphism, and retinal abnormalities; brain MRI showed the MTS and thinning of the corpus callosum. The third case was a 2.5-year-old girl with psychomotor delay and dysmorphic features, whose MRI confirmed the MTS. In all cases, management was symptomatic and supportive, consisting of functional rehabilitation, psychomotor and speech therapy, and recommendations for specialized education.

Discussion: These cases illustrate the clinical and radiological variability of JS and emphasize the importance of recognizing the MTS as a diagnostic hallmark. Given its multisystemic nature, early diagnosis, genetic counseling, and multidisciplinary follow-up are essential for optimal outcomes.

Conclusion: Joubert syndrome remains a clinically and genetically heterogeneous ciliopathy. Our case series highlights the diagnostic value of neuroimaging and the need for comprehensive, multidisciplinary management to improve prognosis and quality of life.

 Keywords: Joubert Syndrome; Molar Tooth Sign; Case Report; Ciliopathy; Neurodevelopmental Disorder

N Seghrouchni., et al. “Joubert Syndrome: A Case Report of Three Patients and Review of Literature”. EC Paediatrics  14.10 (2025): 01-04.