A variable presentation of Joubert syndrome: Case report and a brief review

Vinod, S.*, Ghaly, E., Cruz Soriano, P., Sampath, H., February, M., Gupta, A. | JNPM 2020;


Joubert syndrome is a rare neurological manifestation usually present in late infancy or early childhood with characteristic episodes of abnormal breathing pattern along with the neurological and other systemic involvement.We report a case of confirmed Joubert syndrome present in the immediate neonatal period with isolated spells of oxygen desaturations not accompanied by the classically described breathing pattern and absent neurological symptoms causing delay in the diagnosis. Isolated oxygen desaturation episodes could be a presenting manifestation of Joubert syndrome in a neonatal period.

*Corresponding Author: 

Suja Vinod, Division of Neonatal-Perinatal Medicine/Department of Pediatrics, Metropo-litan hospital center, 1901 1st Avenue, New York, NY, USA. Tel.: +1 646 402 3491, Fax: +1 212 423 7846; E-mail: drsujavinod@yahoo.com.