A Case of Rett Syndrome

  • Samuel Lazuardi Department of Child Health, Universitas Indonesia Medical School/Dr. Cipto Mangunkusumo Hospital, Jakarta
  • Najib Advani Department of Child Health, Universitas Indonesia Medical School/Dr. Cipto Mangunkusumo Hospital, Jakarta
  • Sofyan Ismael Department of Child Health, Universitas Indonesia Medical School/Dr. Cipto Mangunkusumo Hospital, Jakarta
DOI: https://doi.org/10.14238/pi29.11-12.1989.241-4
Keywords: Rett syndrome; psychomotor development; behavioural regression; social regression; psychomotor regression

Abstract

A case of Rett syndrome in a-3 ½ year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand movements and gait disturbance. No laboratory test can confirm the diagnosis of Rett syndrome, therefore the diagnosis was established by virtue of history of illness and clinical manifestations. This is the first case of Rett syndrome found and reported in Indonesia.

References

1. FOSS, I.; HAGBERG, B.; TRYGSTAD, O.: Chromatographic profiles at E 280 run for urinary precipitates in morbus Rett. Brain & Development 7: 345-348 (1985).
2. HAGBERG, B.; AICARDI, J.; DIAS, K.; RAMOS, 0.: A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. An. Neurol. 14: 471-479 (1983).
3. HAGBERG, B.: Rett syndrome: Swedish approach to analysis of prevalence and cause. Brain & Development 7: 277-280 (1985).
4. HAGBERG, B.; GOTIERES, F.; HANEFELD, F.; RETT, A.; WILSON, J.: Rett syndrome: Criteria for inclusion and exclusion. Brain & Development 7: 372-373 (1985).
5. MISSLIWETZ, J.; DEPASTAS, G.: Forensic problems in Rett syndrome. Brain & Development 7: 326-328 (1985).
6. NOMURA, Y.; SEGAWA, M.; HIGURASHI, M.: Rett syndrome - An early catecholamine and indolamine deficient disorder? Brain & Development 7: 334-341 (1985).
7. RETT, A.: Ueber ien eigenartriges hirnatropisches syndrom bei hyperammoniamie in Kindesalter. Wien Med Wochenschr 116: 723-738 (1966) cited from Hagberg, B.; Aicardi, J.; Dias, K.; Ramos, 0.: A Progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. Ann. Neurol. 14: 471-479 (1983).
8. RETT, A (1987): Personal communication.
9. RIEDERER, P.; BRUCKE, T.; SOFIC, M. et al.: Neurochemical aspect of the Rett syndrome. Brain & Development 7: 351-160 (1985).
Published
2018-08-16
How to Cite
1.
Lazuardi S, Advani N, Ismael S. A Case of Rett Syndrome. PI [Internet]. 16Aug.2018 [cited 26Apr.2024];29(11-12):241-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/1951
Issue
Vol 29 No 11-12 (1989): November - December 1989
Section
Case Report

Copyright (c) 2018 Samuel Lazuardi, Najib Advani, Sofyan Ismael

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Received 2018-08-16
Published 2018-08-16