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Updated: May 26, 2026

Multidisciplinary Approach to Obesity Management: A Case Report

Multidisciplinary Approach to Obesity Management: A Case Report

Published on: May 30, 2025

Joubert syndrome: a case report.

Jagjit Singh¹, Geeta Gathwala, Shalini Agarwal

¹Department of Paediatrics, Pt BD Sharma Postgraduate Institute of Medical Sciences, Rohtak 124001.

Journal of the Indian Medical Association

|December 23, 2011

Summary

Joubert syndrome, a rare genetic disorder, typically presents with specific neurological and respiratory symptoms. This case highlights a rare association with epilepsy in a young child, confirmed by MRI.

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Last Updated: May 26, 2026

Multidisciplinary Approach to Obesity Management: A Case Report

Multidisciplinary Approach to Obesity Management: A Case Report

Published on: May 30, 2025

Area of Science:

Neurology
Genetics
Pediatrics

Background:

Joubert syndrome is a rare ciliopathy characterized by specific brainstem and cerebellar abnormalities.
Key features include respiratory irregularities, abnormal eye movements (saccadic), hypotonia, ataxia, and developmental delays.

Observation:

A 4-year-old male presented with global developmental delay and generalized tonic-clonic seizures.
A sibling had similar symptoms and died at 3.5 years, suggesting a familial pattern.

Findings:

Brain MRI revealed features consistent with Joubert syndrome.
The co-occurrence of epilepsy with Joubert syndrome is noted as rare in this case.

Implications:

This case underscores the importance of considering epilepsy in the differential diagnosis of Joubert syndrome.
Further research may elucidate the genetic or pathophysiological links between Joubert syndrome and epilepsy.