Rett syndrome in childhood: the clinical characteristics
Keywords:
Rett syndrome, childhood
Abstract
The prevalence rate of RS in various coun-tries is from 1:10,000 to 1:23,000 female live
births. RS is most often misdiagnosed as autism,
cerebral palsy, or non-specific developmental de-
lay. While many health professionals may not be
familiar with RS, it is a relatively frequent cause of
neurological dysfunction in females. There are no
biological markers for this disease, the diagno-
sis is established by history taking and clinical find-
ings. We reported two patients, both girls, with RS.
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19. Oldfors A, Sourander P, Armstrong DL, Percy AK,
Witt-Engerstrom I, Hagberg BA. Rett syndrome: cer-
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agnostic criteria for Rett syndrome. Ann Neurol
1988;23:425-8.
2. Jan MMS, Dooley JM, Gordon KE. Male Rett syndrome
variant: application of diagnostic criteria. Pediatr
Neurol 1999;20:238-40.
3. Naidu S. Rett syndrome: a disorder affecting early brain
growth. Ann Neurol 1997;42:3-9.
4. Buhler EM, Malik NJ, Alkan M. Rett syndrome and
genetic drift. Brain & Development 1999;21:175-8.
5. Rett syndrome. Description, links and books [cited
2002 Mar 8]. Available from: URL: http://www.isn.net/
-jypsy/rett.htm.
6. Singer HS, Naidu S. Rett syndrome “We’ll keep the
genes on for youâ€. Neurology 2001;56:582-5.
7. Menkes JH. Heredodegenerative disease. In: Menkes
JH, Sarnat HB, editors. Child neurology. 6 th ed.
Philadelpia: Lippincott Williams & Wilkins; 2000. p.
171-239.
8. Moser HW, Naidu S. The discovery and study of Rett
syndrome. In: Capute AJ, Accardo PJ, editors. Devel-
opmental disabilities in infancy and childhood. Balti-
more: Paul H Brookes; 1991. p. 325-33.
9. Swaiman KF, Dyken PR. Degenerative diseases prima-
rily of gray matter. In: Swaiman KF, Ashwal S, editors.
Pediatric neurology principles & practice. 3 rd ed. St
Louis: Mosby; 1999. p. 833-48.
10. Haslam RHA. The nervous system. In: Behrman RE,
Kliegman RM, Jenson HB, editors. Nelson textbook of
pediatrics. 16 th ed. WB Saunders Company: Philadel-
phia; 2000. p. 1848-5.
11. Edelson SM. Rett syndrome. Center for the Study of
Autism [cited 2002 Mar 3]. Available from: URL: http:/
/www.autism.org/rett.html.
12. Matsuishi T, Nagamitsu S, Yamashita Y, Murakami Y,
Kimura A, Sakai T, et al. Decreased cerebrospinal fluid
levels of substance P in patients with Rett syndrome.
Ann Neurol 1997;42:978-81.
13. Trevathan E, Naidu S. The clinical recognition & and
differential diagnosis of Rett syndrome. Journal of Child
Neurology 1988;3(Suppl):6-16.
14. Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neu-
ropathology of Rett syndrome. Acta Neuropathol
1988;76:142-58.
15. Hagberg G, Stenbom Y, Engerstrom IW. Head growth
in Rett syndrome. Brain & Development
2001;23(Suppl):227-9.
16. Philippart M. Rett and Angelman’s syndromes: models
of arrested development. Pediatr Neurol 2001;25:288-
94.
17. Philippart M. Handwringing in Rett syndrome: a nor-
mal developmental stage. Pediatr Neurol 1992;8:197-9.
18. Percy AK. Progressive dementia associated with other
neurologic abnormalities. In: Beng BO, editor. Principles
of child neurology. New York: Mc Graw Hill; 1996. p.
1469-93.
19. Oldfors A, Sourander P, Armstrong DL, Percy AK,
Witt-Engerstrom I, Hagberg BA. Rett syndrome: cer-
ebellar pathology. Pediatr Neurol 1990;6:310-4.
Published
2016-10-10
How to Cite
1.
Herini E, Mangunatmadja I, Solek P, Pusponegoro H. Rett syndrome in childhood: the clinical characteristics. PI [Internet]. 10Oct.2016 [cited 13Nov.2024];44(4):160-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/756
Section
Case Report
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Received 2016-09-30
Accepted 2016-09-30
Published 2016-10-10
Accepted 2016-09-30
Published 2016-10-10
