EXTENSIVE STUDY ON RETT SYNDROME: A CASE REPORTAbstract
Rett Syndrome is an extremely rare, post-natal, and serious genetic neurodevelopmental syndrome that occurs mostly in female children. It occurs due to the mutations in the MeCP2 gene of the X chromosome. Children with Rett syndrome are usually diagnosed within 24 months of their age. The mutation takes place on the S421 site of the MeCP2 gene. The information for coding MeCP2 protein is obtained from the MeCP2 gene. This protein helps to silence or turn off the other genes. Thus, the mutation of the MeCP2 gene can disrupt the other genes and may interfere with the normal development of the Central Nervous System. The signs and symptoms of Rett syndrome may include slowed growth, brain growth slows after birth, loss of normal movement and coordination, loss of communication abilities, abnormal hand movements, unusual eye movements, breathing problems, irritability, crying, and other abnormal behaviors. There are 3 types of clinical criteria for the diagnosis of Rett syndrome. They are the main criteria, supportive criteria, and exclusion criteria. The doctor may recommend a genetic test to complement the diagnosis of Rett Syndrome. There is presently no cure for Rett syndrome. Symptomatic treatment with a multidisciplinary team is essential for the management of the clinical manifestations of the syndrome. With the MeCP2 gene as the target, the developing gene therapy aims to deliver a healthy copy of the mutated gene. Our study elaborates on the pathophysiology and management of Rett syndrome along with a case report.
K. Shailaja *, M. Jasper Victoria Leelarani, S. N. John Felix, S. G. Santhoshkumar, P. Bala Krishnan and R. Vigneswaran
Department of Pharmacy Practice, C. L. Baid Metha College of Pharmacy, Thoraipakkam, Tamil Nadu, India.
03 March 2022
07 May 2022
26 May 2022
01 November 2022