Abstract

JOUBERT SYNDROME: A CASE REPORT WITH AYURVEDIC CLINICAL PERSPECTIVE

Dr. Keerthi B. S.*, Dr. Ananta S. Desai

ABSTRACT

Background: Joubert syndrome (JS) is a rare genetically heterogeneous neurodevelopmental ciliopathy characterized by developmental abnormalities of the cerebellar vermis and brainstem, with variable neurological, ocular, skeletal, renal and hepatic manifestations. The characteristic neuroimaging finding is the molar tooth sign. Case presentation: A 9-year-old boy presented with severe global developmental delay, speech impairment, altered gait, truncal instability, head titubation, bilateral ptosis, drooling, obesity, dysmorphic facies and congenital bilateral six-finger polydactyly. Developmental milestones were markedly delayed, with independent walking at 6 years and two-syllable speech at 8 years. Previous MRI had been reported as communicating hydrocephalus with prominent posterior fossa cerebrospinal-fluid spaces and molar tooth sign,while neurological reassessment in 2021 documented global developmental delay with visual impairment and polydactyly secondary to Joubert syndrome. Ayurvedic assessment and intervention: The congenital phenotype was interpreted conceptually through Beeja dushti/Garbhaja factors with predominant Vata involvement and participation of Prana, Udana and Vyana Vayu, Majja and Mamsa Dhatu and Majjavaha, Mamsavaha and Rasavaha Srotas. Sarvanga Abhyanga with Mahanarayana Taila and Ksheerabala Taila followed by Shashtikashali Pinda Sweda and Matra Basti were administered during the documented admission for their Vatara, Balya, Brimhana, Rasayana Properties and to increase quality of life of the child. Outcome: there was mild subjective increase in strength as per parents and no remarkable changes observed. Conclusion: Early recognition, appropriate neurological/genetic evaluation and multidisciplinary rehabilitation remain central to management. Ayurvedic interventions may be integrated as supportive measures aimed at Vata management, nourishment, sensory-motor stimulation functional rehabilitation and to improve quality of life.

Keywords: Joubert syndrome; developmental delay; cerebellar ataxia; polydactyly; ciliopathy; Ayurveda; Vata; Majja; Abhyanga; Basti.