A Case Report on Jouberts Syndrome

Bainade, Kapil S. and Kotrashetti, Veerana A. and Sonawane, Vijay B. and Vatakar, Amit and Bhatarkar, Shuchi R. (2022) A Case Report on Jouberts Syndrome. In: Current Practice in Medical Science Vol. 3. B P International, pp. 107-112. ISBN 978-93-5547-541-1

Full text not available from this repository.

Abstract

Joubert syndrome is an autosomal recessive hereditary condition that affects the area of the brain that controls balance and coordination. Because of its varied phenotype, this disease is difficult to diagnose clinically. Hypotonia, irregular respiratory patterns, abnormal eye movements, ataxia, unusual facial traits, and intellectual disabilities are all common signs and symptoms. Other abnormalities could be present as well. The cerebellar vermis of the brain is absent or underdeveloped, and the brain stem is aberrant, which is characterized by a specific finding on an MRI called a "molar tooth sign. A thirteen-year-old male with developmental delay, ataxia, mild hypotonia, nystagmus, and molar tooth sign on MRI was diagnosed with Joubert syndrome. Understanding the clinical and radiological features of Joubert syndrome will aid in early diagnosis, appropriate counseling, and proper rehabilitation.

Item Type: Book Section
Subjects: Science Global Plos > Medical Science
Depositing User: Unnamed user with email support@science.globalplos.com
Date Deposited: 09 Oct 2023 06:48
Last Modified: 09 Oct 2023 06:48
URI: http://ebooks.manu2sent.com/id/eprint/1681

Actions (login required)

View Item
View Item