A Case Report on Jouberts Syndrome | Chapter 11 | Current Practice in Medical Science Vol. 3

An inherited disorder called Joubert syndrome damages the part of the brain that regulates balance and coordination. Clinical diagnosis of this illness is challenging due to its complex phenotype. Common signs and symptoms include hypotonia, odd breathing patterns, strange eye movements, ataxia, peculiar facial features, and intellectual impairments. There could also be further anomalies. The brain stem is abnormal and the cerebellar vermis of the brain is missing or undeveloped, which is indicated by a particular MRI result known as the "molar tooth sign." Joubert syndrome was discovered in a thirteen-year-old man with developmental delay, ataxia, moderate hypotonia, nystagmus, and molar tooth sign on MRI. Early diagnosis, appropriate counselling, and effective rehabilitation will all benefit from knowledge of the clinical and radiological characteristics of Joubert syndrome.

Author(s) Details:

Kapil S. Bainade,

Department of Pediatrics, School of Medicine, D. Y. Patil University, Nerul, Maharashtra, India.

Veerana A. Kotrashetti,

Department of Pediatrics, School of Medicine, D. Y. Patil University, Nerul, Maharashtra, India.

Vijay B. Sonawane,

Department of Pediatrics, School of Medicine, D. Y. Patil University, Nerul, Maharashtra, India.

Amit Vatakar,

Department of Pediatrics, School of Medicine, D. Y. Patil University, Nerul, Maharashtra, India.

Shuchi R. Bhatarkar,

Department of Pediatrics, School of Medicine, D. Y. Patil University, Nerul, Maharashtra, India.

Please see the link here: https://stm.bookpi.org/CPMS-V3/article/view/7389