Indian Journal of Private Psychiatry

Register      Login

VOLUME 18 , ISSUE 1 ( January-June, 2024 ) > List of Articles


A Case Report on Rett's Syndrome

Soumitra Ghosh, Jyotirmoy Sarma, Debdutta Nayak, Tanveer Dabria

Keywords : Autism spectrum disorder, Case report, Executive cognitive functioning deficits, Genetic

Citation Information : Ghosh S, Sarma J, Nayak D, Dabria T. A Case Report on Rett's Syndrome. Ind J Priv Psychiatry 2024; 18 (1):37-38.

DOI: 10.5005/jp-journals-10067-0163

License: CC BY-NC 4.0

Published Online: 03-01-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Introduction: Rett's syndrome is a neurodevelopmental disorder that occurs almost exclusively in females and has a typically deteriorating course that is mostly caused by an identifiable mutation of the MECP2 gene located in the X chromosome. The most characteristic features are loss of purposive hand movements and acquired fine motor-manipulative skills along with lack of language development, distinctive stereotyped movement, episodes of hyperventilation, etc. Case description: Here, we are presenting a case of Rett's syndrome in a girl of 4 years 10 months who had presented to the psychiatry OPD of Tezpur Medical College and Hospital on being referred from the Department of Pediatrics. There was a history of loss of hand skill and speech with purposeless stereotypic movement of hand, as a result of which she was unable to hold objects in her hand. She had broad-based gait with teeth grinding and a history of episodic hyperventilation. To our knowledge, this has been the second case of Rett's syndrome from the eastern zone of India. The first case was reported by Ghosh S et al. from a medical college in Assam. Conclusion: Rett's syndrome is a relatively rare disease with a deteriorating and progressing course without any specific treatment for it. Management plans should be focused on early detection and symptomatic treatment in the form of seizure control, behavior therapy, physiotherapy, etc., along with proper genetic counseling and parental counseling.

  1. Ghosh S, Kalita H. Rett's syndrome: A case report. Open J Psychiatry Allied Sci 2015;6:65–67.
  2. Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 1966;116(37):723–726. PMID: 5300597.
  3. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision. Washington, DC: American Psychiatric Association; 2000.
  4. American Psychiatric Association. Desk Reference to the Diagnostic Criteria from DSM-5. Arlington: American Psychiatric Association; 2016.
  5. World Health Organization. The ICD-10 classification of mental and behavioural disorders: Clinical descriptions and diagnostic guidelines, 10th Revision. Geneva: World Health Organization; 1992.
  6. International Statistical Classification of Diseases and Related Health Problems, 11th Revision, ICD-11. World Health Organization; 2021.
  7. Neul JL, Percy AK, Benke TA, et al. Trofinetide for the treatment of Rett syndrome: A randomized phase 3 study. Nat Med 2023;29(6): 1468–1475. DOI: 10.1038/s41591-023-02398-1.
  8. Ehinger Y, Matagne V, Villard L, et al. Rett syndrome from bench to bedside: Recent advances. F1000Res 2018;7:398. DOI: 10.12688/f1000research.14056.1.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.