Electroencephalogram and clinical manifestations of Rett syndrome in children
Keywords:
Rett Syndrome, EEG, clinical manifestation
Abstract
Background Rett Syndrome (RS) is a severe neurodevelopmentaldisorder. Epileptic seizures occur in 80-90%; grandmal, psychomo-
tor (complex partial), and focal motor seizures have been reported.
The electroencephalogram(EEG) is almost always abnormal.
Objective This study aimed to investigate the EEG and clinical
manifestations of children with RS
Results We investigated EEG on 5 patients with RS aged 30–66
month. One patient was in clinical stage II and 4 patients in clini-
cal stage III. Four patients had history of seizures, however only
two patients suffered from epilepsy. The EEG demonstrated slow-
ing background activity in occipital region in two patients. In addi-
tion, epileptic form activities were observed in 4 of 5 patients.
Conclusion We concluded that epileptic spike discharge with or
without clinical seizures were found in almost all of our RS pa-
tients. These paroxysmal discharges suggested the process and
the sequences of cortical involvement. Compelling clinical, neuro-
physiological evidences were very important to decide the stage
of Rett disorder
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lar pathology. Pediatr Neurol, 1990;6:310-4
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& Wilkins; 1993. p. 351-71.
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Raven; 1999. p. 361-71.
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Rett Syndrome. In: Capute AJ and Accardo PJ edi-
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growth. Ann Neurol 1997;42:3-9.
2. Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N,
Scacheri C, Giron J, et al. MECP2 mutations in chil-
dren with and without the phenotype of Rett syndrome.
Neurology 2001;56:1486-95.
3. Percy A, Gillberg C, Hagberg B and Engerström IW.
Rett syndrome and the autistic disorders. In:
Budensteiner JB, editor. Neurology clinics. Philadel-
phia: W.B. Saunders Company; 1990. p. 659-76.
4. Percy AK. Progressive dementia associated with other
neurologic abnormalities. In: Beng BO, editor. Prin-
ciples of child neurology. New York: Mc Graw Hill;
1996. p. 1469-93.
5. Nomura Y. Neurophysiology of Rett Syndrome. Brain
& development 2001;23: S50-7.
6. Hahn JS, Tharp BK. Neonatal and pediatric
electroencephalography. In: Clinical neurology. New
York: Churchill Livingstone; 1999. p. 81-127.
7. Fisch BJ. Fisch Spehlmann’s EEG Primer. Basic prin-
ciples of digital and analog EEG. Amsterdam: Elsevier;
1999. p. 301-2.
8. Auranen M, Vanhala R, Vosman M, Levander M, Varilo
T, Hietala M, et al. MECP2 gene analysis in classical
Rett syndrome and in patients with Rett-like features.
Neurology 2001;56:611-7.
9. Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K,
Mano T, et al. Mutational analysis of MECP2 in Japa-
nese patients with atypical Rett syndrome. Brain &
Development 2001;23:212-5.
10. Gotoh H, Suzuki I, Maruki K, Hirasawa K, Sasaki N.
Magnetic resonance imaging and clinical findings ex-
amined in adulthood studies on three adults with Rett
syndrome. Brain & Development 2001;23:S118-21.
11. The Rett Syndrome Diagnostic Criteria Work Group.
Diagnostic criteria for Rett syndrome. Ann Neurol
1988;23:425-8.
12. Ashwal S. Congenital structural defects of the brain.
In: Levene MI, Chervenak FA, Whittle MJ, Bennett
MJ, Punt J. Fetal and neonatal neurology and neuro-
surgery. 3 rd ed. London: Churchill Livingstone; 2001.
p. 199-236.
13. Edelson SM. Rett Syndrome. Center for the Study of
Autism, Salem, Oregon. 1999 [cited 2002 March 3].
Available from: URL: http://www.autism.org/rett.html.
14. Menkes JH. Heredodegenerative disease. In: Menkes JH
and Sarnat HB editors. Child neurology 6 th ed. Philadelpia:
Lippincott Williams & Wilkins; 2000. p. 171-239.
15. Oldfors A, Sourander P, Armstrong DL, Percy AK,
Engerstrom IW, Hagberg BA. Rett Syndrome: cerebel-
lar pathology. Pediatr Neurol, 1990;6:310-4
16. Haslam RHA. The nervous system. In: Behrman RE,
Kliegman RM, Jenson HB, editors. Textbook of pedi-
atrics. Philadelphia: WB Saunders; 2000. p.1793-1866.
17. Naidu S, Niedermeyer E. Degenerative disorders of
central nervous system. In: Niedermeyer E, Silva FLD,
editors. Electroencephalography. Basic Principles, clini-
cal applications, and related fields. Baltimore: Williams
& Wilkins; 1993. p. 351-71.
18. Swaiman KF, Dyken PR. Degenerative diseases prima-
rily of gray matter. In: Swaiman KF and Ashwal S, edi-
tors. Pediatric neurology principles & practice. St Louis:
Mosby; 1999. p. 833-48.
19. Blume WT, Kaibara M. Role of the electroencephalo-
gram in some pediatric neurological problems. In:
Blume WT, Kaibara M, editors. Atlas of pediatric
electroencephalography. Philadelphia: Lippincott-
Raven; 1999. p. 361-71.
20. Moser HW and Naidu S. The discovery and study of
Rett Syndrome. In: Capute AJ and Accardo PJ edi-
tors. Developmental disabilities in infancy and child-
hood. Baltimore: Paul H Brookes; 1991. p. 325-33.
Published
2016-09-24
How to Cite
1.
Herini E, Mangunatmadja I, S P, Pusponegoro H, Sunartini S. Electroencephalogram and clinical manifestations of Rett syndrome in children. PI [Internet]. 24Sep.2016 [cited 26Apr.2024];43(4):121-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/674
Section
Case Report
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Received 2016-09-23
Accepted 2016-09-23
Published 2016-09-24
Accepted 2016-09-23
Published 2016-09-24
